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Sample records for disease prenatal sonographic

  1. Prenatal sonographic detection of nasopharyngeal teratoma.

    PubMed

    Sağol, S; Itil, I M; Ozsaran, A; Oztekin, K; Ozbek, S S

    1999-10-01

    We present the case of a 34-year-old pregnant woman who had an elevated maternal serum alpha-fetoprotein level and sonographic findings of a semisolid mass protruding from the fetus's oral cavity. The large, heterogeneous mass filled the oropharynx and nasopharynx. Abnormal Doppler waveforms were detected in the umbilical artery of the fetus, who died in utero. Postmortem examination revealed a nasopharyngeal teratoma. PMID:10477890

  2. Cell-free DNA testing: an aid to prenatal sonographic diagnosis.

    PubMed

    Chitty, Lyn S

    2014-04-01

    Sonographic diagnosis of fetal abnormalities is based on the recognition of sonographic patterns associated with structural abnormalities. Although diagnosis in some situations, such as neural tube defects, gastroschisis, and omphalocoele, can be straightforward, in many situations, the constellation of fetal abnormalities suggest an underlying chromosomal or genetic cause. In these situations, invasive testing is needed to provide the information required to make a definitive diagnosis, and thus accurately counsel parents. Since the identification of cell-free fetal DNA in maternal plasma, the potential for non-invasive prenatal diagnosis is increasingly becoming possible. In this chapter, the current role and future potential of non-invasive prenatal diagnosis, combined with new molecular techniques as an aid to sonographic diagnosis, will be discussed.

  3. Association of achondroplasia with Down syndrome: difficulty in prenatal diagnosis by sonographic and 3-D helical computed tomographic analyses.

    PubMed

    Kaga, Akimune; Murotsuki, Jun; Kamimura, Miki; Kimura, Masato; Saito-Hakoda, Akiko; Kanno, Junko; Hoshi, Kazuhiko; Kure, Shigeo; Fujiwara, Ikuma

    2015-05-01

    Achondroplasia and Down syndrome are relatively common conditions individually. But co-occurrence of both conditions in the same patient is rare and there have been no reports of fetal analysis of this condition by prenatal sonographic and three-dimensional (3-D) helical computed tomography (CT). Prenatal sonographic findings seen in persons with Down syndrome, such as a thickened nuchal fold, cardiac defects, and echogenic bowel were not found in the patient. A prenatal 3-D helical CT revealed a large head with frontal bossing, metaphyseal flaring of the long bones, and small iliac wings, which suggested achondroplasia. In a case with combination of achondroplasia and Down syndrome, it may be difficult to diagnose the co-occurrence prenatally without typical markers of Down syndrome.

  4. Gallbladder wall thickness: sonographic accuracy and relation to disease.

    PubMed

    Engel, J M; Deitch, E A; Sikkema, W

    1980-05-01

    A prospective study was performed in two parts after sonographic determination of gallbladder wall thickness in 110 consecutive patients. The first part was designed to evaluate accuracy of sonographic measurements in 40 patients on whom intraoperative measurements of wall thickness were obtained. Second, the significance of wall thickness as an indicator of disease was explored by comparing the 40 surgical patients and 44 controls. Sonography was found to be accurate in determining wall thickness to within 1 mm in 93% of patients and 1.5 mm in 100%. Wall thickness greater than 3.5 mm is highly accurate in predicting disease; however, a wall thickness 3 mm or less does not rule out cholecystitis. PMID:6768264

  5. Prenatal Diagnosis and Evaluation of Sonographic Predictors for Intervention and Adverse Outcome in Congenital Pulmonary Airway Malformation

    PubMed Central

    Hellmund, Astrid; Berg, Christoph; Geipel, Annegret; Bludau, Meike; Heydweiller, Andreas; Bachour, Haitham; Müller, Andreas; Müller, Annette; Gembruch, Ulrich

    2016-01-01

    Objective To describe antenatal findings and evaluate prenatal risk parameters for adverse outcome or need for intervention in fetuses with congenital pulmonary airway malformation (CPAM). Methods In our retrospective study all fetuses with a prenatal diagnosis of CPAM detected in our tertiary referral center between 2002 and 2013 were analyzed. Sonographic findings were noted and measurements of mass-to-thorax-ratio (MTR), congenital pulmonary airway malformation volume-ratio (CVR) and observed to expected lung-to head-ratio (o/e LHR) were conducted and correlated to fetal or neonatal morbidity and mortality and/or need for prenatal intervention. Results 67 fetuses with CPAM were included in the study. Hydropic fetuses were observed in 16.4% (11/67) of cases, prenatal intervention was undertaken in 9 cases; 7 pregnancies were terminated. The survival rate of non-hydropic fetuses with conservatively managed CPAM was 98.0% (50/51), the survival rate for hydropic fetuses with intention to treat was 42.9% (3/7). 10 (18.2%) children needed respiratory assistance. Fetuses with a CVR of <0.91 were significantly less likely to experience adverse outcome or need for prenatal intervention with sensitivity, specificity and positive/negative predictive value of 0.89, 0.71, 0.62 and 0.93, respectively. A MTR (mass-to-thorax-ratio) of < 0.51 had a positive predictive value of 0.54 and a negative predictive value of 0.96 of adverse events with a sensitivity of 0.95 and a specificity of 0.63. The negative predictive value for o/e LHR of 45% was 0.84 with sensitivity, specificity and positive predictive value of 0.73, 0.68 and 0.52, respectively. Conclusions The majority of cases with CPAM have a favorable outcome. MTR and CVR are able to identify fetuses at risk, the o/e LHR is less sensitive. PMID:26978067

  6. [Prenatal sonographic diagnosis of a cystic coccygeal teratoma with retroperitoneal extension].

    PubMed

    Goldhofer, W; Merz, E; Bauer, H; Koltai, I L

    1986-02-01

    The most common teratoma of th newborn is the sacrococcygeal, which contains tissues of all three germinal layers. It is located over and under the sacrum or the coccyx and may extend in front of the sacrum into the retroperitoneal region. The teratoma can lead to compression of the ureters with resultant hydronephrosis or to obstruction of the rectum. The most important complication is the malignant change which usually occurs between the fourth month and the third year. Because of the complications early diagnosis of the teratoma is necessary and extirpation should be carried out as soon as possible. The present paper reports on the sonographic findings in a sacrococcygeal teratoma with retroperitoneal extension at 37 weeks gestation. The aetiology and pathogenesis of this malformation and the clinical findings are discussed.

  7. Prenatal diagnosis of inherited metabolic diseases.

    PubMed Central

    Diukman, R; Goldberg, J D

    1993-01-01

    Advances in the prenatal diagnosis of inherited metabolic disease have provided new reproductive options to at-risk couples. These advances have occurred in both sampling techniques and methods of analysis. In this review we present an overview of the currently available prenatal diagnostic approaches for the diagnosis of metabolic disease in a fetus. Images PMID:8236980

  8. Sonographic Findings of Common Musculoskeletal Diseases in Patients with Diabetes Mellitus

    PubMed Central

    Park, Minho; Ahn, Sung Eun; Ryu, Kyung Nam; Park, So Young; Jin, Wook

    2016-01-01

    Diabetes mellitus (DM) can accompany many musculoskeletal (MSK) diseases. It is difficult to distinguish the DM-related MSK diseases based on clinical symptoms alone. Sonography is frequently used as a first imaging study for these MSK symptoms and is helpful to differentiate the various DM-related MSK diseases. This pictorial essay focuses on sonographic findings of various MSK diseases that can occur in diabetic patients. PMID:26957910

  9. Prenatal environmental exposures, epigenetics, and disease

    PubMed Central

    Perera, Frederica; Herbstman, Julie

    2011-01-01

    This review summarizes recent evidence that prenatal exposure to diverse environmental chemicals dysregulates the fetal epigenome, with potential consequences for subsequent developmental disorders and disease manifesting in childhood, over the lifecourse, or even transgenerationally. The primordial germ cells, embryo, and fetus are highly susceptible to epigenetic dysregulation by environmental chemicals, which can thereby exert multiple adverse effects. The data reviewed here on environmental contaminants have potential implications for risk assessment although more data are needed on individual susceptibility to epigenetic alterations and their persistence before this information can be used in formal risk assessments. The findings discussed indicate that identification of environmental chemicals that dysregulate the prenatal epigenome should be a priority in health research and disease prevention. PMID:21256208

  10. Sonographic Measurement of Abdominal Esophageal Length as a Diagnostic Tool in Gastroesophageal Reflux Disease in Infants

    PubMed Central

    Dehdashti, Hamid; Dehdashtian, Masoud; Rahim, Fakher; Payvasteh, Mehrdad

    2011-01-01

    Background/Aim: This study was conducted to provide sonographic measurements of the abdominal esophagus length in neonates and infants with and without gastroesophageal reflux disease (GERD) and to investigate its diagnostic value. GERD severity was also evaluated and correlated with esophageal length. It is a prospective case-control study. Materials and Methods: This prospective case-control study comprised 235 neonates and infants (120 without reflux and 115 with reflux). There were 40 children without reflux in each of three age categories: less than 1 month, 1–6 months, and 6–12 months. Of the children with reflux, 40 were less than 1 month old; 37, 1–6 months; and 38, 6–12 months. The abdominal esophagus was measured from its entrance into the diaphragm to the base of gastric folds in fed infants. GERD was sonographically diagnosed and confirmed by a barium meal. The number of refluxes during a 10-min period were recorded. Results: Neonates and infants with reflux had a significantly shorter abdominal esophagus than subjects without reflux: the mean difference in neonates, 4.65 mm; 1–6 months, 4.57 mm; 6–12 months, 3.61 mm. Conclusions: Children with severe reflux had a shorter esophagus compared with those with mild and moderate reflux only in the neonate group. Therefore, thinking of GERD and carefully looking for its symptoms is necessary to avoid unnecessary utilization of healthcare resources in children with severe reflux. PMID:21196654

  11. Prenatal immunotoxicant exposure and postnatal autoimmune disease.

    PubMed Central

    Holladay, S D

    1999-01-01

    Reports in humans and rodents indicate that immune development may be altered following perinatal exposure to immunotoxic compounds, including chemotherapeutics, corticosteroids, polycyclic hydrocarbons, and polyhalogenated hydrocarbons. Effects from such exposure may be more dramatic or persistent than following exposure during adult life. For example, prenatal exposure to the insecticide chlordane or to the polycyclic aromatic hydrocarbon benzo[(italic)a(/italic)]pyrene produces what appears to be lifelong immunosuppression in mice. Whether prenatal immunotoxicant exposure may predispose the organism to postnatal autoimmune disease remains largely unknown. In this regard, the therapeutic immunosuppressant cyclosporin A (CsA) crosses the placenta poorly. However, lethally irradiated rodents exposed to CsA postsyngeneic bone marrow transplant (i.e., during re-establishment of the immune system) develop T-cell-mediated autoimmune disease, suggesting this drug may produce a fundamental disruption in development of self-tolerance by T cells. The environmental contaminant 2,3,7, 8-tetrachlorodibenzo-(italic)p(/italic)-dioxin (TCDD) crosses the placenta and produces fetal thymic effects (italic)in vivo(/italic) similar to effects of CsA in fetal thymic organ culture, including inhibited thymocyte maturation and reduced expression of thymic major histocompatability complex class II molecules. These observations led to the suggestion that gestational exposure to TCDD may interfere with normal development of self-tolerance. Possibly supporting this hypothesis, when mice predisposed to development of autoimmune disease were treated with TCDD during gestation, postnatal autoimmunity was exacerbated. Similar results have been reported for mice exposed to diethylstilbestrol during development. These reports suggest that prenatal exposure to certain immunotoxicants may play a role in postnatal expression of autoimmunity. PMID:10502532

  12. Huntington's disease: prenatal screening for late onset disease.

    PubMed

    Post, S G

    1992-06-01

    This article presents a set of moral arguments regarding the selective abortion of fetuses on the basis of prenatal screening for late onset genetic diseases only, and for Huntington's Disease* in particular. After discussion of human suffering, human perfection and the distinctive features of the lives of people confronting late onset genetic disease, the author concludes that selective abortion is difficult to justify ethically, although it must remain a matter of personal choice.

  13. Variation in Prenatal Diagnosis of Congenital Heart Disease in Infants

    PubMed Central

    Quartermain, Michael D.; Pasquali, Sara K.; Hill, Kevin D.; Goldberg, David J.; Huhta, James C.; Jacobs, Jeffrey P.; Jacobs, Marshall L.; Kim, Sunghee; Ungerleider, Ross M.

    2016-01-01

    Background Prenatal diagnosis allows for improved peri-operative outcomes of fetuses with certain forms of congenital heart disease (CHD). Variability in prenatal diagnosis has been demonstrated in other countries, leading to efforts to improve fetal imaging protocols and access to care, but has not been examined across the United States. Objective To evaluate national variation in prenatal detection across geographic region and defect type in neonates and infants with CHD undergoing heart surgery. Methods Cardiovascular operations performed in patients ≤ 6 months of age within the United States and included in the STS-CHS Surgical Database (2006–2012) were eligible for inclusion. Centers with >15% missing prenatal diagnosis data were excluded from the study. Prenatal diagnosis rates were compared across geographic location of residence and defect type using the Chi-square test. Results Overall, the study included 31,374 patients from 91 STS-CHS participating centers across the United States. Prenatal detection occurred in 34% and increased every year from 26% (2006) to 42% (2012). There was significant geographic variation in rates of prenatal diagnosis across states (range 11.8 – 53.4%, p < 0.0001). Significant variability by defect type was also observed with higher rates for lesions identifiable on 4-chamber view versus those requiring outflow tract visualization (57% versus 32%, p < 0.0001). Conclusions Rates of prenatal CHD detection in the United States remain low for patients undergoing surgical intervention, with significant variability between states and across defect type. Further studies are needed to identify reasons for this variation and the potential impact on patient outcomes. PMID:26216324

  14. Prenatal diagnosis of Gaucher disease using next-generation sequencing.

    PubMed

    Yoshida, Shinichiro; Kido, Jun; Matsumoto, Shirou; Momosaki, Ken; Mitsubuchi, Hiroshi; Shimazu, Tomoyuki; Sugawara, Keishin; Endo, Fumio; Nakamura, Kimitoshi

    2016-09-01

    In the prenatal diagnosis of Gaucher disease (GD), glucocerebrosidase (GBA) activity is measured with fetal cells, and gene analysis is performed when pathogenic mutations in GBA are identified in advance. Herein is described prenatal diagnosis in a family in which two children had GD. Although prior genetic information for this GD family was not obtained, next-generation sequencing (NGS) was carried out for this family because immediate prenatal diagnosis was necessary. Three mutations were identified in this GD family. The father had one mutation in intron 3 (IVS2 + 1), the mother had two mutations in exons 3 (I[-20]V) and 5 (M85T), and child 1 had all three of these mutations; child 3 had none of these mutations. On NGS the present fetus (child 3) was not a carrier of GD-related mutations. NGS may facilitate early detection and treatment before disease onset. PMID:27682613

  15. Prenatal diagnosis of Gaucher disease using next-generation sequencing.

    PubMed

    Yoshida, Shinichiro; Kido, Jun; Matsumoto, Shirou; Momosaki, Ken; Mitsubuchi, Hiroshi; Shimazu, Tomoyuki; Sugawara, Keishin; Endo, Fumio; Nakamura, Kimitoshi

    2016-09-01

    In the prenatal diagnosis of Gaucher disease (GD), glucocerebrosidase (GBA) activity is measured with fetal cells, and gene analysis is performed when pathogenic mutations in GBA are identified in advance. Herein is described prenatal diagnosis in a family in which two children had GD. Although prior genetic information for this GD family was not obtained, next-generation sequencing (NGS) was carried out for this family because immediate prenatal diagnosis was necessary. Three mutations were identified in this GD family. The father had one mutation in intron 3 (IVS2 + 1), the mother had two mutations in exons 3 (I[-20]V) and 5 (M85T), and child 1 had all three of these mutations; child 3 had none of these mutations. On NGS the present fetus (child 3) was not a carrier of GD-related mutations. NGS may facilitate early detection and treatment before disease onset.

  16. The Sonographic Features of the Thyroid Gland After Treatment with Radioiodine Therapy in Patients with Graves' Disease.

    PubMed

    English, Collette; Casey, Ruth; Bell, Marcia; Bergin, Diane; Murphy, Joseph

    2016-01-01

    The aim of the study was to describe the typical sonographic features of the thyroid gland in patients with Graves' hyperthyroidism after radioiodine therapy (RIT). Thirty patients (21 female and 9 male) with a mean age of 53 y (standard deviation [SD] ± 11.3) and with previous Graves' disease who had been successfully treated with RIT were enrolled in the study. All were hypothyroid or euthyroid after treatment. The thyroid ultrasound was carried out by a single experienced operator with an 8-MHz linear transducer. Volume, vascularity, echogenicity and echotexture of the glands were noted. The presence of nodules and lymph nodes was also documented. The mean volumes of the right lobe were 2.4 mL ± 2.9 SD (0.6-14) and the left lobe were 1.8 mL ± 1.9 SD (0.4-9.1), with a mean total volume of 4.2 mL ± 4.7 SD (1.3-19.1). Of those who had a pre-treatment ultrasound (23%), the percentage reduction in volume was 87% (p < 0.05); 93% of the glands were hypovascular, with the remaining 7% showing normal vascularity. The glands were hyperechoic and of coarse echotexture. Overall, the sonographic features of the post-RIT gland included a significantly reduced mean total volume of 4.2 mL, hypovascularity, coarse echotexture and hyperechogenicity.

  17. The Sonographic Features of the Thyroid Gland After Treatment with Radioiodine Therapy in Patients with Graves' Disease.

    PubMed

    English, Collette; Casey, Ruth; Bell, Marcia; Bergin, Diane; Murphy, Joseph

    2016-01-01

    The aim of the study was to describe the typical sonographic features of the thyroid gland in patients with Graves' hyperthyroidism after radioiodine therapy (RIT). Thirty patients (21 female and 9 male) with a mean age of 53 y (standard deviation [SD] ± 11.3) and with previous Graves' disease who had been successfully treated with RIT were enrolled in the study. All were hypothyroid or euthyroid after treatment. The thyroid ultrasound was carried out by a single experienced operator with an 8-MHz linear transducer. Volume, vascularity, echogenicity and echotexture of the glands were noted. The presence of nodules and lymph nodes was also documented. The mean volumes of the right lobe were 2.4 mL ± 2.9 SD (0.6-14) and the left lobe were 1.8 mL ± 1.9 SD (0.4-9.1), with a mean total volume of 4.2 mL ± 4.7 SD (1.3-19.1). Of those who had a pre-treatment ultrasound (23%), the percentage reduction in volume was 87% (p < 0.05); 93% of the glands were hypovascular, with the remaining 7% showing normal vascularity. The glands were hyperechoic and of coarse echotexture. Overall, the sonographic features of the post-RIT gland included a significantly reduced mean total volume of 4.2 mL, hypovascularity, coarse echotexture and hyperechogenicity. PMID:26603660

  18. Prevalence and sonographic changes compatible with fatty liver disease in patients referred for abdominal ultrasound examination in Aracaju, SE*

    PubMed Central

    Cruz, Josilda Ferreira; Cruz, Mário Augusto Ferreira; Machado Neto, José; de Santana, Demetrius Silva; Oliveira, Cristiane Costa da Cunha; Lima, Sônia Oliveira

    2016-01-01

    Objective To estimate the prevalence and evaluate sonographic findings compatible with changes consistent with hepatic steatosis in patients referred for abdominal ultrasonography at four reference centers in Aracaju, SE, Brazil. Materials and Methods Prospective, descriptive survey, with analytical and quantitative approach, comprising abdominal ultrasonography scans performed with a convex, dynamic 3.75 MHz transducer. Liver dimensions and parenchymal echotexture were evaluated, classifying hepatic steatosis into grades (1, 2 or 3). The SPSS® 22.0 software was used for statistical analysis, adopting p < 0.05 as significance level. Results A total of 800 individuals (561 women and 239 men) were evaluated. The prevalence of steatosis was 29.1%, and the male patients were most affected, presenting with more advanced grades of disease (p = 0.021), as follows: 119 grade 1 (51.0%); 94 grade 2 (40.4%); and 20 grade 3 (8.6%). The median age patients' was 46 years. Conclusion In the present study sample, the prevalence of hepatic steatosis was high, particularly in the male patients. Ultrasonography is suggested as a first choice for the diagnosis of this condition, considering its wide availability, low cost and absence of side effects or risks to the patient. PMID:26929453

  19. Fetal programming of adult disease: implications for prenatal care.

    PubMed

    Lau, Christopher; Rogers, John M; Desai, Mina; Ross, Michael G

    2011-04-01

    The obesity epidemic, including a marked increase in the prevalence of obesity among pregnant women, represents a critical public health problem in the United States and throughout the world. Over the past two decades, it has been increasingly recognized that the risk of adult health disorders, particularly metabolic syndrome, can be markedly influenced by prenatal and infant environmental exposures (ie, developmental programming). Low birth weight, together with infant catch-up growth, is associated with a significant risk of adult obesity and cardiovascular disease, as well as adverse effects on pulmonary, renal, and cerebral function. Conversely, exposure to maternal obesity or high birth weight also represents an increased risk for childhood and adult obesity. In addition, fetal exposure to select chemicals (eg, phytoestrogens) or environmental pollutants (eg, tobacco smoke) may affect the predisposition to adult disease. Animal models have confirmed human epidemiologic findings and provided insight into putative programming mechanisms, including altered organ development, cellular signaling responses, and epigenetic modifications (ie, control of gene expression without modification of DNA sequence). Prenatal care is transitioning to incorporate goals of optimizing maternal, fetal, and neonatal health to prevent or reduce adult-onset diseases. Guidelines regarding optimal pregnancy nutrition and weight gain, management of low- and high-fetal-weight pregnancies, use of maternal glucocorticoids, and newborn feeding strategies, among others, have yet to fully integrate long-term consequences on adult health.

  20. [Advances in prenatal diagnosis of congenital heart diseases].

    PubMed

    Muner-Hernando, Marta; Gil-Mira, Mar; Zapardiel, Ignacio

    2013-06-01

    Congenital heart diseases are the most frequent abnormalities at the time of delivery. Their importance lays in the fact that they represent 46% of neonatal deaths and they are cause of a high morbidity rate. However, an early diagnosis is difficult. The aim of this revision is to give an update on the advances in the prenatal diagnosis of congenital heart diseases and their advantages compared to conventional sonography. The introduction of new technology in the detection of congenital heart diseases has improved the acquisition of better images in terms of resolution and quality. However, there is a lack of large studies to prove its benefits in non-selected population, although preliminary studies seem to give faithful results.

  1. [Sonographic analyses of obstructive diseases of the salivary gland using intraductal applications of contrast agent].

    PubMed

    Zengel, P; Berghaus, A; Paprottka, P; Clevert, D A; Clevert, D M

    2011-04-01

    Obstructive diseases of the salivary glands are a common problem of the salivary glands; often based on Sialolithiasis, duct stenosis, or other rarer reasons. There exist several diagnostic features to classify the disease; however, ultrasound or conventional radiological imaging does not provide a diagnosis in 5-10% of all cases. The intraductal applied contrast-enhanced ultrasound (IA-CEUS) improves the visualization of obstructive diseases of the salivary glands; simultaneously an evaluation of the parenchyma of the glands is possible. We think IA-CEUS is a promising tool, which improved the diagnostic assessment capabilities of ultrasound and results in a better treatment for patients with obstructive salivary gland diseases.

  2. Sonographic Findings of Hydropneumothorax.

    PubMed

    Nations, Joel Anthony; Smith, Patrick; Parrish, Scott; Browning, Robert

    2016-09-01

    Ultrasound is increasingly being used in examination of the thorax. The sonographic features of normal aerated lung, abnormal lung, pneumothorax, and intrapleural fluid have been published. The sonographic features of uncommon intrathoracic syndromes are less known. Hydropneumothorax is an uncommon process in which the thoracic cavity contains both intrapleural air and water. Few published examples of the sonographic findings in hydropneumothorax exist. We present 3 illustrative cases of the sonographic features of hydropneumothorax with comparative imaging and a literature review of the topic. PMID:27556194

  3. Prenatal ultrasonic diagnosis of obstructive bowel disease: a retrospective analysis.

    PubMed

    Heydanus, R; Spaargaren, M C; Wladimiroff, J W

    1994-11-01

    Fetal obstructive bowel disease was diagnosed in 29 patients at 22-37 weeks (median 32 weeks) of gestation, seven (24 per cent) of whom also displayed other anomalies. Polyhydramnios was present in 20/29 cases (69 per cent). An abnormal karyotype existed in 7/29 cases (24 per cent), of which six were diagnosed prenatally (trisomy 21, n = 5; 69,XXX, n = 1) and one postnatally (trisomy 21). There was always an association with the ultrasonic 'double bubble' sign. Obstructive bowel disease was confirmed postnatally in 20/29 (69 per cent) cases, i.e., oesophageal atresia (n = 1), duodenal obstruction (n = 12), and small bowel obstruction (n = 7). Other anomalies existed in 6/29 (21 per cent) cases, i.e., multicystic kidney (n = 1) and multiple congenital anomalies (n = 5). The perinatal mortality rate was 35 per cent (7/20). PMID:7877951

  4. Prediction, prevention and personalisation of medication for the prenatal period: genetic prenatal tests for both rare and common diseases.

    PubMed

    Dundar, Munis; Uzak, Asli Subasioglu; Erdogan, Murat; Akbarova, Yagut

    2011-06-01

    Genetic testing usually helps physicians to determine possible genetic diseases in unborn babies, genetic disorders of patients and the carriers who might pass the mutant gene on to their children. They are performed on blood, tissues or other body fluids. In recent years, the screening tests and diagnostic tests have improved quickly and, as a result, the risks of pregnancy can be determined more commonly and physicians can diagnose several genetic disorders in the prenatal period. Detecting the abnormalities in utero enables correct management of the pregnancy, prenatal and postnatal medical care, and it is also important for making well informed decisions about continuing or terminating a pregnancy. Besides the improvements of conventional invasive diagnostic tests, the discovery of circulating cell-free foetal nucleic acids in maternal plasma has developed a new point of view for non-invasive prenatal diagnosis recently.

  5. Sonographic findings in an isolated widened fetal subarachnoid space.

    PubMed

    Tongsong, Theera; Puntachai, Pongsun; Tongprasert, Fuanglada; Srisupundit, Kasemsri; Luewan, Suchaya; Traisrisilp, Kuntharee

    2015-05-01

    The purpose of this series was to describe sonographic features of an isolated widened fetal subarachnoid space with a thin cerebral mantle and possible associations. Between January 2004 and December 2013, fetuses with a prenatal diagnosis of a widened subarachnoid space were prospectively recruited and followed. Histories of medical and familial diseases, as well as other demographic data such as drug exposure and lifestyles, were assessed and prospectively recorded. The women were investigated for possible associated factors. Ten pregnant women were recruited. Their fetuses showed various degrees of a widened subarachnoid space, ranging from 5 to 20 mm. Nearly all were diagnosed in the second half of pregnancy. Four cases had normal brain structures documented at midpregnancy anomaly screening. Only 1 case had a prenatal diagnosis of a widened subarachnoid space at 20 weeks' gestation. Two fetuses had exposure to alcohol in utero; 2 were proven to have cytomegalovirus infection; 1 had subarachnoid hemorrhage secondary to maternal use of warfarin; and 1 had a diagnosis of lissencephaly. Only 1 case in this series had normal postnatal development. A prenatal series of fetal widened subarachnoid spaces with possible associated factors is described. Although such relationships were not fully proven, they should be index cases for future studies.

  6. Sonographic assessment of carpal tunnel syndrome in rheumatoid arthritis: prevalence and correlation with disease activity.

    PubMed

    Karadag, Omer; Kalyoncu, Umut; Akdogan, Ali; Karadag, Yesim Sucullu; Bilgen, Sule Apras; Ozbakır, Senay; Filippucci, Emilio; Kiraz, Sedat; Ertenli, Ihsan; Grassi, Walter; Calgüneri, Meral

    2012-08-01

    Carpal tunnel syndrome (CTS) is one of the most frequent extra-articular manifestations of rheumatoid arthritis (RA). High frequency ultrasonography (US) is a sensitive and specific method in diagnosis of CTS. This study is aimed to: firstly assess diameter frequency of CTS in RA with US and compare with a control group; secondly, investigate relationship of CTS with disease activity. One hundred consecutive RA patients (women/men: 78/22) fulfilling ACR 1987 RA criteria and 45 healthy controls (women/control: 34/11) were enrolled into study. Disease activity parameters, RA and CTS patient global assessment and health assessment questionnaire (HAQ-DI) were recorded. Both patient and control group were questioned about secondary causes of CTS, and Katz hand diagram, Boston CTS questionnaire and Phalen ve Tinel tests were applied once for each hand. Wrist joint and carpal tunnel were assessed with US grey scale and power Doppler US, then cross-sectional area of median nerve (CSA) was calculated. Patients with median nerve CSA between 10.0 and 13.0 mm(2) were evaluated with electromyography (EMG). CTS was diagnosed if CSA of median nerve >13.0 mm(2) or CTS was shown with NCS. Although there was no difference between RA patients and controls in age, sex, history of DM (+) and goitre, CTS was more frequent in RA group (respectively, 17.0% vs. 4.4%, P = 0.038). In RA group with CTS, age, history of DM, disease duration, HAQ-DI score, CTS patient global score, Boston symptom severity and functional status scores were elevated compared to without CTS [respectively, 57 (36-73) vs. 50 (24-76), P = 0.041; 35.3% vs. 6.0%, P < 0.001; 108 (12-396) months vs. 72 (6-360) months, P = 0.036; 1.93 (0.75-2.87) vs. 1.125 (0-2.75), P = 0.013; 52 (1-97) vs. 25 (0-91), P = 0.001; 2.81 (1.18-4.17) vs. 2.0 (1.0-4.01), P = 0.01; 3.37 (1.37-5.0) vs. 2.25 (1.0-5.0), P = 0.008]. No difference was found between CTS (+) and (-) RA patients in acute phase reactants, disease activity and US findings

  7. Benign prenatal hypophosphatasia: a treatable disease not to be missed.

    PubMed

    Matsushita, Masaki; Kitoh, Hiroshi; Michigami, Toshimi; Tachikawa, Kanako; Ishiguro, Naoki

    2014-03-01

    Prenatal bowing of the long bones is often associated with severe bone dysplasias. We report a child who presented marked bowing of the long bones at birth but showed a relatively benign postnatal course with spontaneous improvement of bowing. The fetal imaging showed normal skeletal mineralization and normal chest and abdominal circumferences despite the limb bowing and shortening. Decreased serum alkaline phosphatase activity and elevated urine phosphoethanolamine was biochemically evident, and compound heterozygous mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene were identified, which confirmed the diagnosis of a benign form of prenatal hypophosphatasia. Benign prenatal hypophosphatasia should be considered in the differential diagnosis of congenital bowing of the long bones. PMID:24145968

  8. Sonographic markers for early diagnosis of fetal malformations

    PubMed Central

    Renna, Maria Daniela; Pisani, Paola; Conversano, Francesco; Perrone, Emanuele; Casciaro, Ernesto; Renzo, Gian Carlo Di; Paola, Marco Di; Perrone, Antonio; Casciaro, Sergio

    2013-01-01

    Fetal malformations are very frequent in industrialized countries. Although advanced maternal age may affect pregnancy outcome adversely, 80%-90% of fetal malformations occur in the absence of a specific risk factor for parents. The only effective approach for prenatal screening is currently represented by an ultrasound scan. However, ultrasound methods present two important limitations: the substantial absence of quantitative parameters and the dependence on the sonographer experience. In recent years, together with the improvement in transducer technology, quantitative and objective sonographic markers highly predictive of fetal malformations have been developed. These markers can be detected at early gestation (11-14 wk) and generally are not pathological in themselves but have an increased incidence in abnormal fetuses. Thus, prenatal ultrasonography during the second trimester of gestation provides a “genetic sonogram”, including, for instance, nuchal translucency, short humeral length, echogenic bowel, echogenic intracardiac focus and choroid plexus cyst, that is used to identify morphological features of fetal Down’s syndrome with a potential sensitivity of more than 90%. Other specific and sensitive markers can be seen in the case of cardiac defects and skeletal anomalies. In the future, sonographic markers could limit even more the use of invasive and dangerous techniques of prenatal diagnosis (amniocentesis, etc.). PMID:24179631

  9. Morton neuroma: sonographic evaluation.

    PubMed

    Redd, R A; Peters, V J; Emery, S F; Branch, H M; Rifkin, M D

    1989-05-01

    One hundred consecutive patients with symptoms suggestive of Morton neuroma were examined with sonography, and 134 intermetatarsal masses were demonstrated. Forty-five patients underwent surgical exploration, which revealed Morton neuromas. The typical sonographic appearance is that of an ovoid, hypoechoic mass oriented parallel to the long axis of the metatarsals. Most masses were between the second and third or third and fourth metatarsals and seemed to produce symptoms when reaching a diameter of 5 mm.

  10. Experience with carrier screening and prenatal diagnosis for 16 Ashkenazi Jewish genetic diseases.

    PubMed

    Scott, Stuart A; Edelmann, Lisa; Liu, Liu; Luo, Minjie; Desnick, Robert J; Kornreich, Ruth

    2010-11-01

    The success of prenatal carrier screening as a disease prevention strategy in the Ashkenazi Jewish (AJ) population has driven the expansion of screening panels as disease-causing founder mutations have been identified. However, the carrier frequencies of many of these mutations have not been reported in large AJ cohorts. We determined the carrier frequencies of over 100 mutations for 16 recessive disorders in the New York metropolitan area AJ population. Among the 100% AJ-descended individuals, screening for 16 disorders resulted in ∼1 in 3.3 being a carrier for one disease and ∼1 in 24 for two diseases. The carrier frequencies ranged from 0.066 (1 in 15.2; Gaucher disease) to 0.006 (1 in 168; nemaline myopathy), which averaged ∼15% higher than those for all screenees. Importantly, over 95% of screenees chose to be screened for all possible AJ diseases, including disorders with lower carrier frequencies and/or detectability. Carrier screening also identified rare individuals homozygous for disease-causing mutations who had previously unrecognized clinical manifestations. Additionally, prenatal testing results and experience for all 16 disorders (n = 574) are reported. Together, these data indicate the general acceptance, carrier frequencies, and prenatal testing results for an expanded panel of 16 diseases in the AJ population. PMID:20672374

  11. Association between sonographic diagnosis of fatty liver with histopathologic abnormalities and liver biopsy findings in middle age patient with non-alcoholic fatty liver disease

    PubMed Central

    Kalantari, Hamid; Moradi, Farhad; Hassanzade, Akbar

    2016-01-01

    Background: Liver biopsy is required to diagnose non-alcoholic steatohepatitis in patients with suspected non-alcoholic fatty liver disease (NAFLD). This study aimed to examine the relationship between sonographic diagnosis of fatty liver with histopathologic abnormalities and liver biopsy findings in patient with NAFLD. Materials and Methods: In this cross-sectional study, a total of 180 patients, with an age range of 18-60 year old, with NAFLD based on ultrasonograghic findings were evaluated. Age, sex, body mass index, diabetes mellitus, hypertension, family history of liver disease and laboratory parameters recorded for all patients. Hence, grade of steatosis and stage of fibrosis were evaluated by liver biopsy. Results: A total of 220 patients were enrolled. Liver biopsy was performed in 180 patients. Mean age was 43 ± 10.6 years old and 66% were male. Ultrasonograghic findings showed mild, moderate and severe NAFLD was define in 100 (55.5%), 72 (40%) and 8 (4.5%) of patients, respectively. Liver biopsies showed that steatosis scores of <5%, 5-33% and 33-66% was define in 56 (31%), 116 (64%) and 9 (5%) of patients, respectively. Furthermore, fibrosis was defined as follow; none 92 (51%), mild 68 (38%), moderate 11 (6%), bridging 5 (3%) and cirrhosis 3 (2%) patients. There was no statistically significant relationship between ultrasonograghic findings and steatosis scores (P = 0.44), but statistically significant relationship was found between ultrasonograghic findings and fibrosis stage (P = 0.017). Conclusion: Findings revealed that, in patients with NAFLD, ultrasonographic finding were not in associate to steatosis, but were in relation with fibrosis stage. PMID:27563632

  12. Systematic review of accuracy of prenatal diagnosis for abnormal chromosome diseases by microarray technology.

    PubMed

    Xu, H B; Yang, H; Liu, G; Chen, H

    2014-10-31

    The accuracy of prenatal diagnosis for abnormal chromosome diseases by chromosome microarray technology and karyotyping were compared. A literature search was carried out in the MEDLINE database with the keywords "chromosome" and "karyotype" and "genetic testing" and "prenatal diagnosis" and "oligonucleotide array sequence". The studies obtained were filtered by using the QUADAS tool, and studies conforming to the quality standard were fully analyzed. There was one paper conforming to the QUADAS standards including 4406 gravidas with adaptability syndromes of prenatal diagnosis including elderly parturient women, abnormal structure by type-B ultrasound, and other abnormalities. Microarray technology yielded successful diagnoses in 4340 cases (98.8%), and there was no need for tissue culture in 87.9% of the samples. All aneuploids and non-parallel translocations in 4282 cases of non-chimera identified by karyotyping could be detected using microarray analysis technology, whereas parallel translocations and fetal triploids could not be detected by microarray analysis technology. In the samples with normal karyotyping results, type-B ultrasound showed that 6% of chromosomal deficiencies or chromosome duplications could be detected by microarray technology, and the same abnormal chromosomes were detected in 1.7% of elderly parturient women and samples with positive serology screening results. In the prenatal diagnosis test, compared with karyotyping, microarray technology could identify the extra cell genetic information with clinical significance, aneuploids, and non-parallel translocations; however, its disadvantage is that it could not identify parallel translocations and triploids.

  13. The implications of sonographically identified cervical changes in patients not necessarily at risk for preterm birth.

    PubMed

    Riley, L; Frigoletto, F D; Benacerraf, B R

    1992-03-01

    Sonography of the cervix and lower uterine segment has been used in evaluating pregnancies at risk for incompetent cervix and premature labor. Shortened cervix (less than 3 cm) and open internal os with funneling of the membranes into the endocervical canal are sonographic features associated with premature delivery. We identified these sonographic signs in a group of 31 asymptomatic women who were undergoing prenatal sonography for multiple indications, not necessarily related to premature labor or cervical incompetence. Nineteen patients (61%) in this heterogeneous population had pregnancies complicated by preterm labor, clinical evidence of incompetent cervix, or preterm birth. We conclude that the presence of abnormal sonographic features of the cervix seen incidentally during prenatal sonography on asymptomatic patients warrants close clinical attention. PMID:1608077

  14. Roles of microRNAs in prenatal chondrogenesis, postnatal chondrogenesis and cartilage-related diseases.

    PubMed

    Shang, Jin; Liu, Huan; Zhou, Yue

    2013-12-01

    Cartilage has limited repair and regeneration capacity, thus damage of cartilage often results in its dysfunction and even chronic diseases like osteoarthritis (OA). Chondrogenesis induced by tissue-engineering methods is essential to treating cartilage-related diseases. MicroRNAs (miRNAs) are a class of small non-coding single-stranded RNAs which exert their biological effects by binding to the target messenger RNAs (mRNAs), resulting in decay or translation suppression of target mRNAs. There are emerging evidence indicating that miRNAs may play important roles in regulating both prenatal and postnatal chondrogenesis. During embryonic skeletal development, prenatal chondrogenesis is thought to be a precondition for formation of cartilage in developing limbs. Plenty of studies on different types of stem cells have undoubtedly proven their capacity of differentiating into chondrocytes. MiRNAs are found to comprehensively modulate these processes by establishing an interaction network with target genes, transcription factors and cytokines et al. In addition, translational application of miRNA technology has also been explored. In this review, we focus on the up-dated progress on regulatory mechanisms of miRNAs in prenatal and postnatal chondrogenesis. In addition, several miRNA target genes and roles of miRNAs in cartilage-related diseases are also discussed. This will contribute to studies of chondrogenesis mechanisms and development of new treating methods.

  15. Prenatal Tests

    MedlinePlus

    ... X Home > Pregnancy > Prenatal care > Prenatal tests Prenatal tests E-mail to a friend Please fill in ... if you’re feeling fine. What are prenatal tests? Prenatal tests are medical tests you get during ...

  16. Prenatal Care

    MedlinePlus

    ... Our ePublications > Prenatal care fact sheet ePublications Prenatal care fact sheet Print this fact sheet Health Care ... More information on prenatal care What is prenatal care? Prenatal care is the health care you get ...

  17. Prenatal diagnosis of sickle cell disease by the technique of PCR.

    PubMed

    Singh, Praneeta J; Shrivastava, A C; Shrikhande, A V

    2015-06-01

    Sickle cell disease (SCD) is prevalent in Central India and causes major morbidity and mortality. There is a lack of prenatal diagnostic facility near population affected with SCD. This is the pilot study in our region with the aim to establish prenatal diagnostic facility for the couples carrying sickle cell gene in Central India, in order to help them take an informed decision regarding fetus affected with SCD and also to calculate sensitivity of polymerase chain reaction (PCR) technique in our set up with follow up high performance liquid chromatography (HPLC) of baby's blood sample. Fetal sampling was done by chorionic villous biopsy. Extracted DNA was subjected to amplification refractory mutation system (ARMS-PCR) to detect sickle cell mutation (GAG → GTG) in the sixth codon of β globin gene. Follow-up HPLC was done to detect baby's Hb pattern. Prenatal diagnosis of sickle cell anemia was offered in total 37 cases out of which one (2.7 %) fetal sample was inadequate. Total 26 (70.27 %) fetuses had AS Hb genotype, 3 (8.11 %) had AA Hb genotype and 3 (8.11 %) had SS Hb genotype while remaining 4 (10.81 %) were given AA/AS Hb genotype. All couples with SS fetuses opted for MTP. Follow up HPLC was performed in 24 cases, out of which 18 (75 %) were correlated and 6 (25 %) were mismatched. In present study sensitivity of ARMS-PCR was 75 %. ARMS-PCR is a simple technique to be established initially for providing rapid prenatal diagnosis to the couples with known sickle cell mutation. The sensitivity of ARMS-PCR can be increased by using suitable techniques to detect maternal cell DNA contamination. PMID:25825564

  18. The Importance of Multidisciplinary Management during Prenatal Care for Cleft Lip and Palate

    PubMed Central

    Han, Hyun Ho; Choi, Eun Jeong; Kim, Ji Min; Shin, Jong Chul

    2016-01-01

    Background The prenatal ultrasound detection of cleft lip with or without cleft palate (CL/P) and its continuous management in the prenatal, perinatal, and postnatal periods using a multidisciplinary team approach can be beneficial for parents and their infants. In this report, we share our experiences with the prenatal detection of CL/P and the multidisciplinary management of this malformation in our institution's Congenital Disease Center. Methods The multidisciplinary team of the Congenital Disease Center for mothers of children with CL/P is composed of obstetricians, plastic and reconstructive surgeons, pediatricians, and psychiatrists. A total of 11 fetuses were diagnosed with CL/P from March 2009 to December 2013, and their mothers were referred to the Congenital Disease Center of our hospital. When CL/P is suspected in the prenatal ultrasound screening examination, the pregnant woman is referred to our center for further evaluation. Results The abortion rate was 28% (3/11). The concordance rate of the sonographic and final diagnoses was 100%. Ten women (91%) reported that they were satisfied with the multidisciplinary management in our center. Conclusions Although a child with a birth defect is unlikely to be received well, the women whose fetuses were diagnosed with CL/P on prenatal ultrasound screening and who underwent multidisciplinary team management were more likely to decide to continue their pregnancy. PMID:27019808

  19. Prenatal diagnosis of holoprosencephaly with ethmocephaly via 3-dimensional sonography.

    PubMed

    Lee, Gui-Se-Ra; Hur, Soo Young; Shin, Jong-Chul; Kim, Soo-Pyung; Kim, Sa Jin

    2006-01-01

    We present the prenatal 3-dimensional (3D) sonographic findings in a case of holoprosencephaly with ethmocephaly at 32 weeks' gestation. The sonographic diagnosis was based on the intracranial findings of a single ventricle and bulb-shaped appearance of the thalami and facial abnormalities, including hypotelorism with proboscis. Chromosome study of the fetus revealed a normal female karyotype (46,XX). Postmortem examination confirmed the 3D sonographic findings. This case demonstrates that the use of 3D sonography improves the imaging and the understanding of the condition of the intracranial abnormalities and the facial anomalies. PMID:16788963

  20. Maternal Choline Supplementation: A Potential Prenatal Treatment for Down Syndrome and Alzheimer's Disease.

    PubMed

    Strupp, Barbara J; Powers, Brian E; Velazquez, Ramon; Ash, Jessica A; Kelley, Christy M; Alldred, Melissa J; Strawderman, Myla; Caudill, Marie A; Mufson, Elliott J; Ginsberg, Stephen D

    2016-01-01

    Although Down syndrome (DS) can be diagnosed prenatally, currently there are no effective treatments to lessen the intellectual disability (ID) which is a hallmark of this disorder. Furthermore, starting as early as the third decade of life, DS individuals exhibit the neuropathological hallmarks of Alzheimer's disease (AD) with subsequent dementia, adding substantial emotional and financial burden to their families and society at large. A potential therapeutic strategy emerging from the study of trisomic mouse models of DS is to supplement the maternal diet with additional choline during pregnancy and lactation. Studies demonstrate that maternal choline supplementation (MCS) markedly improves spatial cognition and attentional function, as well as normalizes adult hippocampal neurogenesis and offers protection to basal forebrain cholinergic neurons (BFCNs) in the Ts65Dn mouse model of DS. These effects on neurogenesis and BFCNs correlate significantly with spatial cognition, suggesting functional relationships. In this review, we highlight some of these provocative findings, which suggest that supplementing the maternal diet with additional choline may serve as an effective and safe prenatal strategy for improving cognitive, affective, and neural functioning in DS. In light of growing evidence that all pregnancies would benefit from increased maternal choline intake, this type of recommendation could be given to all pregnant women, thereby providing a very early intervention for individuals with DS, and include babies born to mothers unaware that they are carrying a fetus with DS.

  1. Maternal Choline Supplementation: A Potential Prenatal Treatment for Down Syndrome and Alzheimer's Disease.

    PubMed

    Strupp, Barbara J; Powers, Brian E; Velazquez, Ramon; Ash, Jessica A; Kelley, Christy M; Alldred, Melissa J; Strawderman, Myla; Caudill, Marie A; Mufson, Elliott J; Ginsberg, Stephen D

    2016-01-01

    Although Down syndrome (DS) can be diagnosed prenatally, currently there are no effective treatments to lessen the intellectual disability (ID) which is a hallmark of this disorder. Furthermore, starting as early as the third decade of life, DS individuals exhibit the neuropathological hallmarks of Alzheimer's disease (AD) with subsequent dementia, adding substantial emotional and financial burden to their families and society at large. A potential therapeutic strategy emerging from the study of trisomic mouse models of DS is to supplement the maternal diet with additional choline during pregnancy and lactation. Studies demonstrate that maternal choline supplementation (MCS) markedly improves spatial cognition and attentional function, as well as normalizes adult hippocampal neurogenesis and offers protection to basal forebrain cholinergic neurons (BFCNs) in the Ts65Dn mouse model of DS. These effects on neurogenesis and BFCNs correlate significantly with spatial cognition, suggesting functional relationships. In this review, we highlight some of these provocative findings, which suggest that supplementing the maternal diet with additional choline may serve as an effective and safe prenatal strategy for improving cognitive, affective, and neural functioning in DS. In light of growing evidence that all pregnancies would benefit from increased maternal choline intake, this type of recommendation could be given to all pregnant women, thereby providing a very early intervention for individuals with DS, and include babies born to mothers unaware that they are carrying a fetus with DS. PMID:26391046

  2. Real-time three dimensional sonographic features of an early third trimester fetus with achondrogenesis.

    PubMed

    Wataganara, Tuangsit; Sutanthavibool, Anuwat; Limwongse, Chanin

    2006-10-01

    Generalized shortening of fetal long bones detected from prenatal sonographic examination usually raise a tentative diagnosis of skeletal dysplasia. Information obtained from grey-scale scan is frequently not sufficient to provide a definite diagnosis, and the images are not readily comprehensible for the parents-to-be. Lately, three-dimensional sonography has become increasing available in obstetric practice. The authors report here a rare case of fetal achondrogenesis, which is a lethal form of skeletal dysplasia, in a 30-week-old fetus using real-time three-dimensional ultrasound. The prenatal findings of fetal achondrogenesis from this technique were thoroughly described, along with postnatal radiography and autopsy results. Sonographic features from this imaging technique allow for an accurate diagnosis and better understanding of the parents. This facilitates the genetic counseling process, as well as the parental options for further care. PMID:17128855

  3. Prenatal diagnosis of foetuses with congenital abnormalities and duplication of the MECP2 region.

    PubMed

    Fu, Fang; Liu, Huan-ling; Li, Ru; Han, Jin; Yang, Xin; Min, Pan; Zhen, Li; Zhang, Yong-ling; Xie, Gui-e; Lei, Ting-ying; Li, Yan; Li, Jian; Li, Dong-zhi; Liao, Can

    2014-08-10

    MECP2 duplication results in a well-recognised syndrome in 100% of affected male children; this syndrome is characterised by severe neurodevelopmental disabilities and recurrent infections. However, no sonographic findings have been reported for affected foetuses, and prenatal molecular diagnosis has not been possible for this disease due to lack of prenatal clinical presentation. In this study, we identified a small duplication comprising the MECP2 and L1CAM genes in the Xq28 region in a patient from a family with severe X-linked mental retardation and in a prenatal foetus with brain structural abnormalities. Using high-resolution chromosome microarray analysis (CMA) to screen 108 foetuses with congenital structural abnormalities, we identified additional three foetuses with the MECP2 duplication. Our study indicates that ventriculomegaly, hydrocephalus, agenesis of the corpus callosum, choroid plexus cysts, foetal growth restriction and hydronephrosis might be common ultrasound findings in prenatal foetuses with the MECP2 duplication and provides the first set of prenatal cases with MECP2 duplication, the ultrasonographic phenotype described in these patients will help to recognise the foetuses with possible MECP2 duplication and prompt the appropriate molecular testing.

  4. Prenatal diagnosis of foetuses with congenital abnormalities and duplication of the MECP2 region.

    PubMed

    Fu, Fang; Liu, Huan-ling; Li, Ru; Han, Jin; Yang, Xin; Min, Pan; Zhen, Li; Zhang, Yong-ling; Xie, Gui-e; Lei, Ting-ying; Li, Yan; Li, Jian; Li, Dong-zhi; Liao, Can

    2014-08-10

    MECP2 duplication results in a well-recognised syndrome in 100% of affected male children; this syndrome is characterised by severe neurodevelopmental disabilities and recurrent infections. However, no sonographic findings have been reported for affected foetuses, and prenatal molecular diagnosis has not been possible for this disease due to lack of prenatal clinical presentation. In this study, we identified a small duplication comprising the MECP2 and L1CAM genes in the Xq28 region in a patient from a family with severe X-linked mental retardation and in a prenatal foetus with brain structural abnormalities. Using high-resolution chromosome microarray analysis (CMA) to screen 108 foetuses with congenital structural abnormalities, we identified additional three foetuses with the MECP2 duplication. Our study indicates that ventriculomegaly, hydrocephalus, agenesis of the corpus callosum, choroid plexus cysts, foetal growth restriction and hydronephrosis might be common ultrasound findings in prenatal foetuses with the MECP2 duplication and provides the first set of prenatal cases with MECP2 duplication, the ultrasonographic phenotype described in these patients will help to recognise the foetuses with possible MECP2 duplication and prompt the appropriate molecular testing. PMID:24914495

  5. Impact of Prenatal Risk Factors on Congenital Heart Disease in the Current Era

    PubMed Central

    Fung, Alan; Manlhiot, Cedric; Naik, Sapna; Rosenberg, Herschel; Smythe, John; Lougheed, Jane; Mondal, Tapas; Chitayat, David; McCrindle, Brian W.; Mital, Seema

    2013-01-01

    Background The healthcare burden related to congenital heart disease (CHD) is increasing with improving survival. We assessed changing trends in prenatal risk factors for CHD in the current era in a Canadian cohort. Methods and Results CHD patients <18 years old (n=2339) and controls without structural heart disease (n=199) were prospectively enrolled in an Ontario province‐wide biobank registry from 2008–2011. Family history, frequency of extra‐cardiac anomalies (ECAs), and antenatal risk factors were assessed. Temporal trends were analyzed and associations with CHD were measured using linear and logistic regression. Family history of CHD and frequency of major ECAs was higher in cases versus controls (P<0.001). Despite an increase in genetic testing in the recent era, only 9.5% of cases with CHD had a confirmed genetic diagnosis. Yield of genetic testing (ie, frequency of abnormal results) was higher in familial and syndromic cases. There was an increase in parental age at conception, maternal prepregnancy body mass index, maternal urinary tract infections, type 1 diabetes, and exposure to nonfertility medications during pregnancy from 1990–2011. Later year of birth, family history of CHD, presence of major ECAs, maternal smoking during pregnancy, and maternal medication exposure were associated with increased odds of CHD (P<0.05 for all). Advanced parental age was associated with increased odds of CHD caused by genetic abnormalities. Conclusions The increase in prenatal risk factors for CHD highlights the need for more rigorous ascertainment of genetic and environmental factors including gene‐environment interactions that contribute to CHD. PMID:23727699

  6. Prenatal Diagnosis and Postnatal Follow-up of congenitally corrected transposition of the great arteries and recurrent supraventricular tachycardia

    PubMed Central

    Kibar, AE; Hallioglu, O; Erdem, S; Celik, I

    2013-01-01

    The prenatal sonographic diagnosis of congenitally corrected transposition of the great arteries (ccTGA), a rare form of congenital heart disease is very difficult. A24-year-old woman was referred to our center at 28 weeks’ gestationbecause of suspected fetal cardiac anomalies. We report a case of ccTGA with supraventricular tachycardia, ventricular septal defect, pulmonary valve stenosis, tricuspid valvar displacement and moderate tricuspid regurgitation during her pregnancy. The combined presence of SVT and ccTGA are occasionally present in the literature. PMID:23720695

  7. Comprehensive PKD1 and PKD2 Mutation Analysis in Prenatal Autosomal Dominant Polycystic Kidney Disease.

    PubMed

    Audrézet, Marie-Pierre; Corbiere, Christine; Lebbah, Said; Morinière, Vincent; Broux, Françoise; Louillet, Ferielle; Fischbach, Michel; Zaloszyc, Ariane; Cloarec, Sylvie; Merieau, Elodie; Baudouin, Véronique; Deschênes, Georges; Roussey, Gwenaelle; Maestri, Sandrine; Visconti, Chiara; Boyer, Olivia; Abel, Carine; Lahoche, Annie; Randrianaivo, Hanitra; Bessenay, Lucie; Mekahli, Djalila; Ouertani, Ines; Decramer, Stéphane; Ryckenwaert, Amélie; Cornec-Le Gall, Emilie; Salomon, Rémi; Ferec, Claude; Heidet, Laurence

    2016-03-01

    Prenatal forms of autosomal dominant polycystic kidney disease (ADPKD) are rare but can be recurrent in some families, suggesting a common genetic modifying background. Few patients have been reported carrying, in addition to the familial mutation, variation(s) in polycystic kidney disease 1 (PKD1) or HNF1 homeobox B (HNF1B), inherited from the unaffected parent, or biallelic polycystic kidney and hepatic disease 1 (PKHD1) mutations. To assess the frequency of additional variations in PKD1, PKD2, HNF1B, and PKHD1 associated with the familial PKD mutation in early ADPKD, these four genes were screened in 42 patients with early ADPKD in 41 families. Two patients were associated with de novo PKD1 mutations. Forty patients occurred in 39 families with known ADPKD and were associated with PKD1 mutation in 36 families and with PKD2 mutation in two families (no mutation identified in one family). Additional PKD variation(s) (inherited from the unaffected parent when tested) were identified in 15 of 42 patients (37.2%), whereas these variations were observed in 25 of 174 (14.4%, P=0.001) patients with adult ADPKD. No HNF1B variations or PKHD1 biallelic mutations were identified. These results suggest that, at least in some patients, the severity of the cystic disease is inversely correlated with the level of polycystin 1 function.

  8. Sonographic features of retroperitoneal neurilemoma.

    PubMed

    Kuo, C H; Changchien, C S

    1993-06-01

    Seven cases of retroperitoneal neurilemoma confirmed by histology had an ultrasound examination. There were 5 women and 2 men with a mean age of 55. Most of the cases (5/7) had a palpable mass clinically. Of the 7 cases, 4 had a mass with cystic degeneration and internal echoes on sonogram, consistent with the macroscopic findings of tumors. The internal echoes represented blood clots and residual tissue (or septa) in cyst. Of the remaining 3 cases, one showed a confluent lobulated mass, the second had a solitary homogeneous mass with small cysts, and the third one, which was the smallest (4 cm x 4 cm x 6 cm), had a hypoechoic and homogeneous pattern. The sonograms of all 7 cases were consistent with the macroscopic features of the tumors. The sonographic pattern of tumor parenchyma is either homogenously hyperechoic or hypoechoic. Because of the cystic degeneration, hemorrhage, and residual tissue of retroperitoneal neurilemoma, the sonographic pattern was variable.

  9. Prenatal Exposure to Arsenic and Cadmium Impacts Infectious Disease-Related Genes within the Glucocorticoid Receptor Signal Transduction Pathway

    PubMed Central

    Rager, Julia E.; Yosim, Andrew; Fry, Rebecca C.

    2014-01-01

    There is increasing evidence that environmental agents mediate susceptibility to infectious disease. Studies support the impact of prenatal/early life exposure to the environmental metals inorganic arsenic (iAs) and cadmium (Cd) on increased risk for susceptibility to infection. The specific biological mechanisms that underlie such exposure-mediated effects remain understudied. This research aimed to identify key genes/signal transduction pathways that associate prenatal exposure to these toxic metals with changes in infectious disease susceptibility using a Comparative Genomic Enrichment Method (CGEM). Using CGEM an infectious disease gene (IDG) database was developed comprising 1085 genes with known roles in viral, bacterial, and parasitic disease pathways. Subsequently, datasets collected from human pregnancy cohorts exposed to iAs or Cd were examined in relationship to the IDGs, specifically focusing on data representing epigenetic modifications (5-methyl cytosine), genomic perturbations (mRNA expression), and proteomic shifts (protein expression). A set of 82 infection and exposure-related genes was identified and found to be enriched for their role in the glucocorticoid receptor signal transduction pathway. Given their common identification across numerous human cohorts and their known toxicological role in disease, the identified genes within the glucocorticoid signal transduction pathway may underlie altered infectious disease susceptibility associated with prenatal exposures to the toxic metals iAs and Cd in humans. PMID:25479081

  10. Sonographic evaluation of hindfoot disorders.

    PubMed

    Hoffman, Douglas F; Grothe, Heather L; Bianchi, Stefano

    2014-06-01

    Foot pain is a common orthopedic condition that can have an impact on health-related quality of life. The evaluation of plantar hindfoot pain begins with history and physical examination. Imaging modalities, standard radiographs, sonography, MR, CT are often utilized to clarify the diagnosis. The article is a detailed description of the sonographic evaluation of the plantar fascia and its disorders as well as the common etiologies in the differential diagnosis of plantar fasciopathy.

  11. Sonographic appearance of primary retroperitoneal cysts.

    PubMed

    Derchi, L E; Rizzatto, G; Banderali, A; Sala, P; Larghero, G C; Solbiati, L

    1989-07-01

    The sonographic findings observed in four patients with primary retroperitoneal cysts were reviewed. All lesions presented as fluid-filled masses with anechoic content and regular margins; all increased through transmission. Preoperative location of the cysts within the retroperitoneal space was possible in all cases by either real-time ultrasound (US) analysis of the different relationships of the kidneys and the cysts during respiratory movements or the anterior displacement of surrounding structures. A differential diagnosis among retroperitoneal lesions containing fluid is difficult and cannot be obtained with imaging methods alone. However, preoperative knowledge of both the retroperitoneal location of the disease process and its fluid content may help to narrow the diagnostic possibilities, thus allowing the surgeon to more accurately plan the therapeutic approach to the patient.

  12. Sonographically documented disappearance of fetal ascites.

    PubMed

    Mueller-Heubach, E; Mazer, J

    1983-02-01

    Two patients with sonographically documented fetal ascites are described. Workup for immunologic or nonimmunologic causes was negative. Subsequent sonar examinations demonstrated disappearance of fetal ascites. At delivery, previous abdominal distention was apparent. Fetal ascites of unknown etiology in the late second trimester does not necessarily have a poor prognosis. Serial sonographic examinations are indicated for follow-up of fetal ascites.

  13. Prenatal testing for hemolytic disease of the newborn and fetal neonatal alloimmune thrombocytopenia - current status.

    PubMed

    Avent, Neil D

    2014-12-01

    Incompatibility of red cell and platelet antigens can lead to maternal alloimmunization causing hemolytic disease of the fetus & newborn and fetal neonatal alloimmune thrombocytopenia respectively. As the molecular background of these polymorphisms emerged, prenatal testing using initially fetal DNA obtained from invasively obtained amniotic fluid or chorionic villus was implemented. This evolved into testing using maternal plasma as source of fetal DNA, and this is in routine use as a safe non-invasive diagnostic that has no risk to the fetus of alloimmunization or spontaneous miscarriage. These tests were initially applied to high risk pregnancies, but has been applied on a mass scale, to screen fetuses in D-negative pregnant populations as national screening programs. Fetal neonatal alloimmune thrombocytopenia management has had comparatively small take up in non-invasive testing for causative fetal platelet alleles (e.g., HPA-1A), but mass scale genotyping of mothers to identify at risk HPA-1b1b pregnancies and their treatment with prophylactic anti-HPA-1A is being considered in at least one country (Norway).

  14. The cost-effectiveness of prenatal detection for congenital heart disease using telemedicine screening.

    PubMed

    Mistry, Hema; Gardiner, Helena M

    2013-06-01

    We estimated the longer-term cost-effectiveness of using telemedicine screening for prenatal detection of congenital heart disease (CHD). One hospital in south-east England with a telemedicine service was connected to a fetal cardiology unit in London. A UK health service perspective was adopted. Evidence on costs and outcomes for standard-risk pregnant women during the antenatal period was based on patient-level data. Extrapolation beyond the end of the study (just after delivery) was carried out for the lifetime of children born with and without CHD. Expert opinion and data from published sources was used to populate a decision model. Future costs and benefits were discounted. The main outcome was quality-adjusted life years (QALYs) and results were expressed as cost per QALY gained. Various one-way sensitivity analyses were conducted. The model showed that offering telemedicine screening by specialists to all standard-risk pregnant women was the dominant strategy (i.e. cheaper and more effective). The sensitivity analyses found that the model was robust, and that telemedicine remained the most cost-effective strategy. The study showed that it would be cost-effective to provide telemedicine examinations as part of an antenatal screening programme for all standard-risk women.

  15. Noninvasive prenatal diagnosis of monogenic diseases by digital size selection and relative mutation dosage on DNA in maternal plasma.

    PubMed

    Lun, Fiona M F; Tsui, Nancy B Y; Chan, K C Allen; Leung, Tak Y; Lau, Tze K; Charoenkwan, Pimlak; Chow, Katherine C K; Lo, Wyatt Y W; Wanapirak, Chanane; Sanguansermsri, Torpong; Cantor, Charles R; Chiu, Rossa W K; Lo, Y M Dennis

    2008-12-16

    Prenatal diagnosis of monogenic diseases, such as cystic fibrosis and beta-thalassemia, is currently offered as part of public health programs. However, current methods based on chorionic villus sampling and amniocentesis for obtaining fetal genetic material pose a risk to the fetus. Since the discovery of cell-free fetal DNA in maternal plasma, the noninvasive prenatal assessment of paternally inherited traits or mutations has been achieved. Due to the presence of background maternal DNA, which interferes with the analysis of fetal DNA in maternal plasma, noninvasive prenatal diagnosis of maternally inherited mutations has not been possible. Here we describe a digital relative mutation dosage (RMD) approach that determines if the dosages of the mutant and wild-type alleles of a disease-causing gene are balanced or unbalanced in maternal plasma. When applied to the testing of women heterozygous for the CD41/42 (-CTTT) and hemoglobin E mutations on HBB, digital RMD allows the fetal genotype to be deduced. The diagnostic performance of digital RMD is dependent on interplay between the fractional fetal DNA concentration and number of DNA molecules in maternal plasma. To achieve fetal genotype diagnosis at lower volumes of maternal plasma, fetal DNA enrichment is desired. We thus developed a digital nucleic acid size selection (NASS) strategy that effectively enriches the fetal DNA without additional plasma sampling or experimental time. We show that digital NASS can work in concert with digital RMD to increase the proportion of cases with classifiable fetal genotypes and to bring noninvasive prenatal diagnosis of monogenic diseases closer to reality.

  16. Prenatal ethanol exposure programs an increased susceptibility of non-alcoholic fatty liver disease in female adult offspring rats

    SciTech Connect

    Shen, Lang; Liu, Zhongfen; Gong, Jun; Zhang, Li; Wang, Linlong; Magdalou, Jacques; Chen, Liaobin; Wang, Hui

    2014-01-15

    Prenatal ethanol exposure (PEE) induces dyslipidemia and hyperglycemia in fetus and adult offspring. However, whether PEE increases the susceptibility to non-alcoholic fatty liver disease (NAFLD) in offspring and its underlying mechanism remain unknown. This study aimed to demonstrate an increased susceptibility to high-fat diet (HFD)-induced NAFLD and its intrauterine programming mechanisms in female rat offspring with PEE. Rat model of intrauterine growth retardation (IUGR) was established by PEE, the female fetus and adult offspring that fed normal diet (ND) or HFD were sacrificed. The results showed that, in PEE + ND group, serum corticosterone (CORT) slightly decreased and insulin-like growth factor-1 (IGF-1) and glucose increased with partial catch-up growth; In PEE + HFD group, serum CORT decreased, while serum IGF-1, glucose and triglyceride (TG) increased, with notable catch-up growth, higher metabolic status and NAFLD formation. Enhanced liver expression of the IGF-1 pathway, gluconeogenesis, and lipid synthesis as well as reduced expression of lipid output were accompanied in PEE + HFD group. In PEE fetus, serum CORT increased while IGF-1 decreased, with low body weight, hyperglycemia, and hepatocyte ultrastructural changes. Hepatic IGF-1 expression as well as lipid output was down-regulated, while lipid synthesis significantly increased. Based on these findings, we propose a “two-programming” hypothesis for an increased susceptibility to HFD-induced NAFLD in female offspring of PEE. That is, the intrauterine programming of liver glucose and lipid metabolic function is “the first programming”, and postnatal adaptive catch-up growth triggered by intrauterine programming of GC-IGF1 axis acts as “the second programming”. - Highlights: • Prenatal ethanol exposure increase the susceptibility of NAFLD in female offspring. • Prenatal ethanol exposure reprograms fetal liver’s glucose and lipid metabolism . • Prenatal ethanol exposure cause

  17. Diagnostic Medical Sonographers: Seeing with Sound.

    ERIC Educational Resources Information Center

    Lacey, Alan

    2001-01-01

    Explains how diagnostic medical sonographers use special equipment to direct high frequency sound waves into areas of a patient's body. Describes specialties within the occupation, working conditions, employment and outlook, earnings, and necessary training and qualifications. (JOW)

  18. Noninvasive Prenatal Screening for Genetic Diseases Using Massively Parallel Sequencing of Maternal Plasma DNA.

    PubMed

    Chitty, Lyn S; Lo, Y M Dennis

    2015-01-01

    The identification of cell-free fetal DNA (cffDNA) in maternal plasma in 1997 heralded the most significant change in obstetric care for decades, with the advent of safer screening and diagnosis based on analysis of maternal blood. Here, we describe how the technological advances offered by next-generation sequencing have allowed for the development of a highly sensitive screening test for aneuploidies as well as definitive prenatal molecular diagnosis for some monogenic disorders. PMID:26187875

  19. PROSPECTIVE EVALUATION OF ASSOCIATIONS BETWEEN PRENATAL CORTISOL AND ADULTHOOD CORONARY HEART DISEASE RISK: THE NEW ENGLAND FAMILY STUDY

    PubMed Central

    Stinson, Lynda J.; Stroud, Laura R.; Buka, Stephen L.; Eaton, Charles B.; Lu, Bing; Niaura, Raymond; Loucks, Eric B.

    2016-01-01

    OBJECTIVE Increasing evidence suggests that early life factors may influence coronary heart disease (CHD) risk, however little is known about contributions of prenatal cortisol. Objectives were to prospectively assess associations of maternal cortisol levels during pregnancy with offspring’s 10-year CHD risk during middle-age. METHODS Participants were 262 mother-offspring dyads from the New England Family Study. Maternal free cortisol was assessed in third trimester maternal serum samples. Ten-year CHD risk was calculated in offspring at mean age 42 years, using the validated Framingham risk algorithm incorporating diabetes, systolic and diastolic blood pressure, total and HDL cholesterol, smoking, age and sex. RESULTS In multivariable-adjusted linear regression analyses adjusted for age and race/ethnicity, high vs. low maternal cortisol tertile was associated with 36.7% (95% CI: 8.4%, 72.5%) greater mean 10-year CHD risk score in females. There was no association in males (−2.8%, 95% CI: −23.8%, 24.0%). Further adjustment for in utero socioeconomic position showed 25.9% (95% CI: −1.0%, 60.0%) greater CHD risk in females. Adjustment for maternal age and size for gestational age had little effect on findings. CONCLUSIONS Maternal prenatal cortisol levels were positively associated with 10-year CHD risk among female, and not male, offspring. Adjusting for socioeconomic position during pregnancy reduced effect size in females, suggesting it may be a common prior factor in both maternal cortisol and CHD risk. These findings provide evidence that targeting mothers who have elevated prenatal cortisol levels, including elevated cortisol in the setting of low socioeconomic position, may potentially reduce long-term CHD risk in their offspring. PMID:25768844

  20. Disruption of Fetal Hormonal Programming (Prenatal Stress) Implicates Shared Risk for Sex Differences in Depression and Cardiovascular Disease

    PubMed Central

    Goldstein, JM; Handa, RJ; Tobet, SA

    2014-01-01

    Comorbidity of major depressive disorder (MDD) and cardiovascular disease (CVD) represents the fourth leading cause of morbidity and mortality worldwide, and women have a two times greater risk than men. Thus understanding the pathophysiology has widespread implications for attenuation and prevention of disease burden. We suggest that sex-dependent MDD-CVD comorbidity may result from alterations in fetal programming consequent to the prenatal maternal environments that produce excess glucocorticoids, which then drive sex-dependent developmental alterations of the fetal hypothalamic-pituitary-adrenal (HPA) axis circuitry impacting mood, stress regulation, autonomic nervous system (ANS), and the vasculature in adulthood. Evidence is consistent with the hypothesis that disruptions of pathways associated with gamma aminobutyric acid (GABA) in neuronal and vascular development and growth factors have critical roles in key developmental periods and adult responses to injury in heart and brain. Understanding the potential fetal origins of these sex differences will contribute to development of novel sex-dependent therapeutics. PMID:24355523

  1. Disruption of fetal hormonal programming (prenatal stress) implicates shared risk for sex differences in depression and cardiovascular disease.

    PubMed

    Goldstein, J M; Handa, R J; Tobet, S A

    2014-01-01

    Comorbidity of major depressive disorder (MDD) and cardiovascular disease (CVD) represents the fourth leading cause of morbidity and mortality worldwide, and women have a two times greater risk than men. Thus understanding the pathophysiology has widespread implications for attenuation and prevention of disease burden. We suggest that sex-dependent MDD-CVD comorbidity may result from alterations in fetal programming consequent to the prenatal maternal environments that produce excess glucocorticoids, which then drive sex-dependent developmental alterations of the fetal hypothalamic-pituitary-adrenal (HPA) axis circuitry impacting mood, stress regulation, autonomic nervous system (ANS), and the vasculature in adulthood. Evidence is consistent with the hypothesis that disruptions of pathways associated with gamma aminobutyric acid (GABA) in neuronal and vascular development and growth factors have critical roles in key developmental periods and adult responses to injury in heart and brain. Understanding the potential fetal origins of these sex differences will contribute to development of novel sex-dependent therapeutics. PMID:24355523

  2. Sonographic Findings in Fetal Renal Vein Thrombosis.

    PubMed

    Gerber, Rebecca E; Bromley, Bryann; Benson, Carol B; Frates, Mary C

    2015-08-01

    We present the sonographic findings of fetal renal vein thrombosis in a series of 6 patients. The mean gestational age at diagnosis was 31.2 weeks. Four cases were unilateral, and 2 were bilateral. The most common findings were renal enlargement and intrarenal vascular calcifications, followed by increased renal parenchymal echogenicity. Inferior vena cava thrombosis was found in 4 patients and common iliac vein thrombosis in 2. Fetal renal vein thrombosis is an uncommon diagnosis with characteristic sonographic findings. The presence of these findings should prompt Doppler interrogation of the renal vein and inferior vena cava to confirm the diagnosis.

  3. [Prenatal ultrasonographic diagnosis of congenital epulis--two case reports and literature review].

    PubMed

    Foryś, Sebastian; Krajewski, Jan; Krasomski, Grzegorz; Makowski, Andrzej; Zieliński, Andrzej; Kulig, Andrzej; Respondek-Liberska, Maria

    2010-06-01

    The following work presents prenatal ultrasonographic examination of two rare fetal cases of epulis, among 13 792 fetuses referred to our unit due to suspected fetal anomalies by obstetricians (estimated prevalence 1/7000 among fetuses with different anomalies). Sonographic differential diagnosis, value of fetal nasal amniotic fluid flow assessment by color Doppler and the probability of EXIT procedure have been described. PMID:20695198

  4. [Prenatal diagnosis of fetal heterotaxy syndromes: report of two cases and review of the literature].

    PubMed

    Martínez-Ceccopieri, David Alejandro; Barrios-Prieto, Ernesto; González -Gallo, Luz; Panduro-Barón, Gallo Guadalupe; Fajardo-Dueñas, Sergio

    2014-11-01

    We describe the prenatal sonographic findings in two cases of fetal heterotaxy syndrome evaluated at the Maternal Fetal Medicine Unit of a tertiary hospital over a period of one year and present a review of the literature on the subject. PMID:25826959

  5. [Differential diagnostic procedure in sonographically detected fetal cystic hygroma].

    PubMed

    Holzgreve, W

    1985-01-01

    A series of 5 consecutive cases of fetal cystic hygroma diagnosed prenatally in the second trimester by sonography within a year in an ultrasound screening program is presented. 3 fetuses had a 45,X karyotype, one fetus had a 47,XY,+21 chromosome constitution and in one case no cytogenetic abnormality could be found. Because there was a cleft palate present in this latter female fetus, it is possible that this was a case of the recently described malformation syndrome. 3 of the pregnancies with fetal cystic hygroma ended in spontaneous abortion, in the other 2 cases the parents decided after careful genetic counseling to have an elective termination of pregnancy. Although Turner syndrome is the most frequent finding in cases of nuchal hygroma detected in utero by ultrasound, careful sonographic and cytogenetic studies as well as a detailed family history have to be obtained to delineate the cause of the malformation. On autopsy in all 3 cases with 45,X karyotype there were streak gonads, in 2 cases an additional hypoplasia of the aortic arch was found. Amniotic fluid alpha-fetoprotein and acetylcholinesterase determinations did not prove to add any significant information to the ultrasound evaluation of fetal cystic hygroma.

  6. The Right to Ignore Genetic Risk in the Genomic Era - Prenatal testing for Huntington Disease as a paradigm

    PubMed Central

    Erez, Ayelet; Plunkett, Katie; Sutton, V. Reid; McGuire, Amy L

    2013-01-01

    During the last decade, the field of human genome research has gone through a phase of rapid discovery that has provided scientists and physicians with a wide variety of research tools that are applicable to important medical issues. We describe a case of familial Huntington disease (HD), where the proband at risk preferred not to know his disease status but wanted to know the status in his unborn child. Once we found the father to be negative, the case raised an important ethical question regarding the management of this as well as future pregnancies. This paper discusses the arguments for and against the right not to know of one’s carrier status, as well as professional obligations in the context of withholding unwanted information that may have direct implications not only for the patient himself but also for other family members. HD has been the gold standard for many other adult onset genetic diseases in terms of carrier testing guidelines. Hence, we feel it is time to revisit the issue of prenatal testing for HD and consider updating the current recommendations regarding the patient’s right to “genetic ignorance”, the right not to know genetic information. PMID:20583190

  7. Prenatal famine exposure and adult mortality from cancer, cardiovascular disease, and other causes through age 63 years.

    PubMed

    Ekamper, Peter; van Poppel, Frans; Stein, Aryeh D; Bijwaard, Govert E; Lumey, L H

    2015-02-15

    Nutritional conditions in early life may affect adult health, but prior studies of mortality have been limited to small samples. We evaluated the relationship between pre-/perinatal famine exposure during the Dutch Hunger Winter of 1944-1945 and mortality through age 63 years among 41,096 men born in 1944-1947 and examined at age 18 years for universal military service in the Netherlands. Of these men, 22,952 had been born around the time of the Dutch famine in 6 affected cities; the remainder served as unexposed controls. Cox proportional hazards models were used to estimate hazard ratios for death from cancer, heart disease, other natural causes, and external causes. After 1,853,023 person-years of follow-up, we recorded 1,938 deaths from cancer, 1,040 from heart disease, 1,418 from other natural causes, and 523 from external causes. We found no increase in mortality from cancer or cardiovascular disease after prenatal famine exposure. However, there were increases in mortality from other natural causes (hazard ratio = 1.24, 95% confidence interval: 1.03, 1.49) and external causes (hazard ratio = 1.46, 95% confidence interval: 1.09, 1.97) after famine exposure in the first trimester of gestation. Further follow-up of the cohort is needed to provide more accurate risk estimates of mortality from specific causes of death after nutritional disturbances during gestation and very early life.

  8. Prenatal Care

    MedlinePlus

    ... many problems and prevent others. Your doctor or midwife will give you a schedule for your prenatal ... diabetes or high blood pressure, your doctor or midwife will probably want to see you more often. ...

  9. Growth adjusted sonographic age. A simplified method.

    PubMed

    Sabbagha, R E; Hughey, M; Depp, R

    1978-03-01

    It recently has been shown that the sonar predictive accuracy of gestational age can be markedly enhanced by separating fetuses into one of three cephalic growth patterns, namely, large, average, and small. In this way it becomes possible to adjust fetal age in relation to biparietal diameter (BPD) growth. In this report we are defining the application of a growth adjusted sonographic age (GASA). Additionally, we are introducing a table which simplifies the assignment of GASA on a routine basis.

  10. Sonographic evaluations in elite college baseball athletes.

    PubMed

    Wang, Hsing-Kuo; Lin, Jau-Jia; Pan, Shin-Liang; Wang, Tyng-Guey

    2005-02-01

    This study compared the thickness of the biceps and supraspinatus tendons, the widths of the subacromial space in the frontal and scapular planes, and abnormal sonographic findings in the shoulders of injured, and uninjured elite college baseball athletes and healthy controls. This study recruited two groups of 42 and 12 athletes, with and without histories of shoulder injuries, respectively, as well as one control group of 16 college students who were matched for physical characteristics but not involved in sports. The results showed that the thickness of the biceps and supraspinatus tendons and the subacromial space widths at 0 degrees and 90 degrees shoulder abduction in the frontal plane were significantly greater in the athletes than in the controls (P-values <0.004). The occurrences of the acromioclavicular joint bulging, bicep tendon degeneration, infraspinatus tendon degeneration and infraspinatus cortical irregularity differ significantly between the injured athlete and the group of uninjured athletes and controls (P-values <0.05). However, only infraspinatus tendon degeneration corresponded to the injury histories. There was a high similarity of sonographic spectrum of abnormal findings among the groups. Longitudinal follow-ups are required to determine the clinical importance of the sonographic spectrums and the occurrences of abnormal finding in asymptomatic athletes' shoulders.

  11. Novel Mutation in the PKHD1 Gene Diagnosed Prenatally in a Fetus with Autosomal Recessive Polycystic Kidney Disease

    PubMed Central

    Thakur, Pankaj; Speer, Paul; Rajkovic, Aleksandar

    2014-01-01

    We report a 29-year-old gravida 2, para 0100, who presented at 19 weeks and 4 days of gestation for ultrasound to assess fetal anatomy. Routine midtrimester fetal anatomy ultrasound revealed enlarged, hyperechoic fetal kidneys and normal amniotic fluid index. Follow-up ultrasound at 23 weeks and 5 days revealed persistently enlarged, hyperechoic fetal kidneys. Progressive oligohydramnios was not evident until 29 weeks of gestation, with anhydramnios noted by 35 weeks of gestation. Amniocentesis was performed for karyotype and to search for mutations in the PKHD1 for the presumptive diagnosis of autosomal recessive polycystic kidney disease (ARPKD). In our patient, a maternally inherited, previously reported pathogenic missense mutation in the PKHD1 gene, c.10444C>T, was identified. A second, previously unreported de novo mutation, c.5909-2delA, was also identified. This mutation affects the canonical splice site and is most likely pathogenic. Our case highlights PKHD1 allelic heterogeneity and the importance of genetic testing in the prenatal setting where many other genetic etiologies can phenocopy ARPKD. PMID:25114813

  12. Prenatal growth restriction, retinal dystrophy, diabetes insipidus and white matter disease: expanding the spectrum of PRPS1-related disorders.

    PubMed

    Al-Maawali, Almundher; Dupuis, Lucie; Blaser, Susan; Heon, Elise; Tarnopolsky, Mark; Al-Murshedi, Fathiya; Marshall, Christian R; Paton, Tara; Scherer, Stephen W; Roelofsen, Jeroen; van Kuilenburg, André B P; Mendoza-Londono, Roberto

    2015-03-01

    PRPS1 codes for the enzyme phosphoribosyl pyrophosphate synthetase-1 (PRS-1). The spectrum of PRPS1-related disorders associated with reduced activity includes Arts syndrome, Charcot-Marie-Tooth disease-5 (CMTX5) and X-linked non-syndromic sensorineural deafness (DFN2). We describe a novel phenotype associated with decreased PRS-1 function in two affected male siblings. Using whole exome and Sanger sequencing techniques, we identified a novel missense mutation in PRPS1. The clinical phenotype in our patients is characterized by high prenatal maternal α-fetoprotein, intrauterine growth restriction, dysmorphic facial features, severe intellectual disability and spastic quadraparesis. Additional phenotypic features include macular coloboma-like lesions with retinal dystrophy, severe short stature and diabetes insipidus. Exome sequencing of the two affected male siblings identified a shared putative pathogenic mutation c.586C>T p.(Arg196Trp) in the PRPS1 gene that was maternally inherited. Follow-up testing showed normal levels of hypoxanthine in urine samples and uric acid levels in blood serum. The PRS activity was significantly reduced in erythrocytes of the two patients. Nucleotide analysis in erythrocytes revealed abnormally low guanosine triphosphate and guanosine diphosphate. This presentation is the most severe form of PRPS1-deficiency syndrome described to date and expands the spectrum of PRPS1-related disorders.

  13. Prenatal diagnosis and management of fetal goiter caused by maternal Grave's disease.

    PubMed

    Hadi, H A; Strickland, D

    1995-07-01

    We present a case of maternal Grave's disease associated with fetal goitrous hyperthyroidism. Fetal goiter was diagnosed by ultrasound and diagnosis of fetal hyperthyroidism was established by umbilical blood sampling. Fetus was successfully treated by increasing maternal propylthiouracil dosage. Fetal thyroid status was normal at birth. Role of sonography and umbilical blood sampling in management of fetal goiter complicated with maternal Grave's disease is discussed. PMID:7575824

  14. Prenatal diagnosis of Smith-Lemli-Opitz syndrome, type II.

    PubMed

    Johnson, J A; Aughton, D J; Comstock, C H; von Oeyen, P T; Higgins, J V; Schulz, R

    1994-01-15

    Smith-Lemli-Opitz syndrome, type II (SLOS-II) is a severe autosomal recessive disorder characterized by a distinctive face, unusual cleft palate, postaxial polydactyly, congenital heart defects, renal anomalies, and male pseudohermaphroditism. We present the first report of prenatal diagnosis of SLOS-II, as well as an additional report of prenatal detection of multiple anomalies, in which a positive diagnosis of SLOS II was made postnatally. In neither case was the pregnancy known prospectively to be at risk for SLOS-II. In the former case, targeted sonographic examination at 31 weeks of gestation showed intrauterine growth retardation, atrioventricular septal defect, mesomelic shortening of the arms, small kidneys, overlapping fingers, and female external genitalia; a 46,XY chromosome constitution had been ascertained previously. A provisional diagnosis of SLOS-II was made prenatally. In the latter case, targeted sonographic examination at 18 weeks of gestation showed severe oligohydramnios, atrioventricular septal defect, and Dandy-Walker malformation. The kidneys and bladder were not visualized. The chromosome constitution was 46,XX. The diagnosis of SLOS-II was made postnatally. In both cases, additional findings compatible with SLOS-II were noted postnatally. Prenatal detection of congenital heart defects and renal abnormalities, in combination with certain additional findings (most notably, female external genitalia in the presence of a 46,XY karyotype, polydactyly, disproportionately short limbs, or intrauterine growth retardation) and a normal karyotype, suggests the diagnosis of SLOS-II, and warrants further investigation.

  15. Prenatal stress, development, health and disease risk: A psychobiological perspective-2015 Curt Richter Award Paper.

    PubMed

    Entringer, Sonja; Buss, Claudia; Wadhwa, Pathik D

    2015-12-01

    The long-term consequences of exposure to excess stress, particularly during sensitive developmental windows, on the initiation and progression of many complex, common physical and mental disorders that confer a major global burden of disease are well established. The period of intrauterine life represents among the most sensitive of these windows, at which time the effects of stress may be transmitted inter-generationally from a mother to her as-yet-unborn child. As explicated by the concept of fetal or developmental programming of health and disease susceptibility, a growing body of evidence supports the notion that health and disease susceptibility is determined by the dynamic interplay between genetic makeup and environment, particularly during intrauterine and early postnatal life. Except in extreme cases, an adverse intrauterine exposure may not, per se, 'cause' disease, but, instead, may determine propensity for disease(s) in later life (by shaping phenotypic responsivity to endogenous and exogenous disease-related risk conditions). Accumulating evidence suggests that maternal psychological and social stress during pregnancy represents one such condition that may adversely affect the developing child, with important implications for a diverse range of physical and mental health outcomes. In this paper we review primarily our own contributions to the field of maternal stress during pregnancy and child mental and physical health-related outcomes. We present findings on stress-related maternal-placental-fetal endocrine and immune/inflammatory processes that may mediate the effects of various adverse conditions during pregnancy on the developing human embryo and fetus. We enunciate conceptual and methodological issues related to the assessment of stress during pregnancy and discuss potential mechanisms of intergenerational transmission of the effects of stress. Lastly, we describe on-going research and some future directions of our program. PMID:26372770

  16. Prenatal stress, development, health and disease risk: A psychobiological perspective-2015 Curt Richter Award Paper.

    PubMed

    Entringer, Sonja; Buss, Claudia; Wadhwa, Pathik D

    2015-12-01

    The long-term consequences of exposure to excess stress, particularly during sensitive developmental windows, on the initiation and progression of many complex, common physical and mental disorders that confer a major global burden of disease are well established. The period of intrauterine life represents among the most sensitive of these windows, at which time the effects of stress may be transmitted inter-generationally from a mother to her as-yet-unborn child. As explicated by the concept of fetal or developmental programming of health and disease susceptibility, a growing body of evidence supports the notion that health and disease susceptibility is determined by the dynamic interplay between genetic makeup and environment, particularly during intrauterine and early postnatal life. Except in extreme cases, an adverse intrauterine exposure may not, per se, 'cause' disease, but, instead, may determine propensity for disease(s) in later life (by shaping phenotypic responsivity to endogenous and exogenous disease-related risk conditions). Accumulating evidence suggests that maternal psychological and social stress during pregnancy represents one such condition that may adversely affect the developing child, with important implications for a diverse range of physical and mental health outcomes. In this paper we review primarily our own contributions to the field of maternal stress during pregnancy and child mental and physical health-related outcomes. We present findings on stress-related maternal-placental-fetal endocrine and immune/inflammatory processes that may mediate the effects of various adverse conditions during pregnancy on the developing human embryo and fetus. We enunciate conceptual and methodological issues related to the assessment of stress during pregnancy and discuss potential mechanisms of intergenerational transmission of the effects of stress. Lastly, we describe on-going research and some future directions of our program.

  17. The right to ignore genetic status of late onset genetic disease in the genomic era; Prenatal testing for Huntington disease as a paradigm.

    PubMed

    Erez, A; Plunkett, K; Sutton, V R; McGuire, A L

    2010-07-01

    During the last decade, the field of human genome research has gone through a phase of rapid discovery that has provided scientists and physicians with a wide variety of research tools that are applicable to important medical issues. We describe a true case of familial Huntington disease (HD) in which we modified personal details to protect patient's privacy, where the proband at risk preferred not to know his disease status but wanted to know the status in his unborn child. Once we found the father to be negative, the case raised an important ethical question regarding the management of this as well as future pregnancies. This article discusses the arguments for and against the right not to know of one's carrier status, as well as professional obligations in the context of withholding unwanted information that may have direct implications not only for the patient himself but also for other family members. HD has served as a model for many other adult onset genetic diseases in terms of carrier testing guidelines. Hence, we feel it is time to revisit the issue of prenatal testing for HD and consider updating the current recommendations regarding the patient's right to "genetic ignorance", or the right not to know genetic information.

  18. Induced pluripotent stem cells offer new approach to therapy in thalassemia and sickle cell anemia and option in prenatal diagnosis in genetic diseases

    PubMed Central

    Ye, Lin; Chang, Judy C.; Lin, Chin; Sun, Xiaofang; Yu, Jingwei; Kan, Yuet Wai

    2009-01-01

    The innovation of reprogramming somatic cells to induced pluripotent stem cells provides a possible new approach to treat β-thalassemia and other genetic diseases such as sickle cell anemia. Induced pluripotent stem (iPS) cells can be made from these patients' somatic cells and the mutation in the β-globin gene corrected by gene targeting, and the cells differentiated into hematopoietic cells to be returned to the patient. In this study, we reprogrammed the skin fibroblasts of a patient with homozygous β0 thalassemia into iPS cells, and showed that the iPS cells could be differentiated into hematopoietic cells that synthesized hemoglobin. Prenatal diagnosis and selective abortion have been effective in decreasing the number of β-thalassemia births in some countries that have instituted carrier screening and genetic counseling. To make use of the cells from the amniotic fluid or chorionic villus sampling that are used for prenatal diagnosis, we also showed that these cells could be reprogrammed into iPS cells. This raises the possibility of providing a new option following prenatal diagnosis of a fetus affected by a severe illness. Currently, the parents would choose either to terminate the pregnancy or continue it and take care of the sick child after birth. The cells for prenatal diagnosis can be converted into iPS cells for treatment in the perinatal periods. Early treatment has the advantage of requiring much fewer cells than adult treatment, and can also prevent organ damage in those diseases in which damage can begin in utero or at an early age. PMID:19482945

  19. Prenatal Care.

    ERIC Educational Resources Information Center

    Office of Child Development (DHEW), Washington, DC.

    Initially published by the Children's Bureau in 1913, this pamphlet has been revised frequently. Its purpose is to point out the importance of medical care during pregnancy. Comfortable pregnancies, easy labor, and better care for their new infants are the usual concerns of prospective mothers. Consequently, this 1962 edition of "Prenatal Care"…

  20. Prenatal Care.

    ERIC Educational Resources Information Center

    Health Resources and Services Administration (DHHS/PHS), Rockville, MD. Office for Maternal and Child Health Services.

    This booklet is the first in a series of publications designed to provide parents with useful information about childrearing. Contents are organized into three parts. Part I focuses on the pregnancy, prenatal care, development of the baby, pregnant lifestyles, nutrition, common discomforts, and problems of pregnancy. Part II provides information…

  1. Prenatal ethanol exposure programs an increased susceptibility of non-alcoholic fatty liver disease in female adult offspring rats.

    PubMed

    Shen, Lang; Liu, Zhongfen; Gong, Jun; Zhang, Li; Wang, Linlong; Magdalou, Jacques; Chen, Liaobin; Wang, Hui

    2014-01-15

    Prenatal ethanol exposure (PEE) induces dyslipidemia and hyperglycemia in fetus and adult offspring. However, whether PEE increases the susceptibility to non-alcoholic fatty liver disease (NAFLD) in offspring and its underlying mechanism remain unknown. This study aimed to demonstrate an increased susceptibility to high-fat diet (HFD)-induced NAFLD and its intrauterine programming mechanisms in female rat offspring with PEE. Rat model of intrauterine growth retardation (IUGR) was established by PEE, the female fetus and adult offspring that fed normal diet (ND) or HFD were sacrificed. The results showed that, in PEE+ND group, serum corticosterone (CORT) slightly decreased and insulin-like growth factor-1 (IGF-1) and glucose increased with partial catch-up growth; In PEE+HFD group, serum CORT decreased, while serum IGF-1, glucose and triglyceride (TG) increased, with notable catch-up growth, higher metabolic status and NAFLD formation. Enhanced liver expression of the IGF-1 pathway, gluconeogenesis, and lipid synthesis as well as reduced expression of lipid output were accompanied in PEE+HFD group. In PEE fetus, serum CORT increased while IGF-1 decreased, with low body weight, hyperglycemia, and hepatocyte ultrastructural changes. Hepatic IGF-1 expression as well as lipid output was down-regulated, while lipid synthesis significantly increased. Based on these findings, we propose a "two-programming" hypothesis for an increased susceptibility to HFD-induced NAFLD in female offspring of PEE. That is, the intrauterine programming of liver glucose and lipid metabolic function is "the first programming", and postnatal adaptive catch-up growth triggered by intrauterine programming of GC-IGF1 axis acts as "the second programming".

  2. Identification of mutations, genotype-phenotype correlation and prenatal diagnosis of maple syrup urine disease in Indian patients.

    PubMed

    Gupta, Deepti; Bijarnia-Mahay, Sunita; Saxena, Renu; Kohli, Sudha; Dua-Puri, Ratna; Verma, Jyotsna; Thomas, E; Shigematsu, Yosuke; Yamaguchi, Seiji; Deb, Roumi; Verma, Ishwar Chander

    2015-09-01

    Maple syrup urine disease (MSUD) is caused by mutations in genes BCKDHA, BCKDHB, DBT encoding E1α, E1β, and E2 subunits of enzyme complex, branched-chain alpha-ketoacid dehydrogenase (BCKDH). BCKDH participates in catabolism of branched-chain amino acids (BCAAs) - leucine, isoleucine and valine in the energy production pathway. Deficiency or defect in the enzyme complex causes accumulation of BCAAs and keto-acids leading to toxicity. Twenty-four patients with MSUD were enrolled in the study for molecular characterization and genotype-phenotype correlation. Molecular studies were carried out by sequencing of the 3 genes by Sanger method. Bioinformatics tools were employed to classify novel variations into pathogenic or benign. The predicted effects of novel changes on protein structure were elucidated by 3D modeling. Mutations were detected in 22 of 24 patients (11, 7 and 4 in BCKDHB, BCKDHA and DBT genes, respectively). Twenty mutations including 11 novel mutations were identified. Protein modeling in novel mutations showed alteration of structure and function of these subunits. Mutations, c.1065 delT (BCKDHB gene) and c.939G > C (DBT gene) were noted to be recurrent, identified in 6 of 22 alleles and 5 of 8 alleles, respectively. Two-third patients were of neonatal classical phenotype (16 of 24). BCKDHB gene mutations were present in 10 of these 16 patients. Prenatal diagnoses were performed in 4 families. Consanguinity was noted in 37.5% families. Although no obvious genotype-phenotype correlation could be found in our study, most cases with mutation in BCKDHB gene presented in neonatal period. Large number of novel mutations underlines the heterogeneity and distinctness of gene pool from India. PMID:26257134

  3. Prenatal Treatment of Mosaic Mice (Atp7a mo-ms) Mouse Model for Menkes Disease, with Copper Combined by Dimethyldithiocarbamate (DMDTC)

    PubMed Central

    Lenartowicz, Małgorzata; Krzeptowski, Wojciech; Koteja, Paweł; Chrząścik, Katarzyna; Møller, Lisbeth Birk

    2012-01-01

    Menkes disease is a fatal neurodegenerative disorder in infants caused by mutations in the gene ATP7A which encodes a copper (Cu) transporter. Defects in ATP7A lead to accumulated copper in the small intestine and kidneys and to copper deficiencies in the brain and the liver. The copper level in the kidney in postnatal copper-treated Menkes patients may reach toxic levels. The mouse model, mosaic Atp7a mo-ms recapitulates the Menkes phenotype and die about 15.75±1.5 days of age. In the present study we found that prenatal treatment of mosaic murine fetuses throughout gestation days 7, 11, 15 and 18 with a combination of CuCl2 (50 mg/kg) and dimethyldithiocarbamate (DMDTC) (280 mg/kg) leads to an increase in survival to about 76±25.3 days, whereas treatment with CuCl2 alone (50 mg/kg) only leads to survival for about 21 days ±5 days. These copper-DMDTC treated mutants showed an improved locomotor activity performance and a gain in body mass. In contrast to treatment with CuCl2 alone, a significant increase in the amount of copper was observed in the brain after prenatal copper-DMDTC treatment as well as a decrease in the amount of accumulated copper in the kidney, both leading towards a normalization of the copper level. Although copper-DMDTC prenatal treatment only leads to a small increase in the sub-normal copper concentration in the liver and to an increase of copper in the already overloaded small intestine, the combined results suggest that prenatal copper-DMDTC treatment also should be considered for humans. PMID:22815746

  4. Prenatal treatment of mosaic mice (Atp7a mo-ms) mouse model for Menkes disease, with copper combined by dimethyldithiocarbamate (DMDTC).

    PubMed

    Lenartowicz, Małgorzata; Krzeptowski, Wojciech; Koteja, Paweł; Chrząścik, Katarzyna; Møller, Lisbeth Birk

    2012-01-01

    Menkes disease is a fatal neurodegenerative disorder in infants caused by mutations in the gene ATP7A which encodes a copper (Cu) transporter. Defects in ATP7A lead to accumulated copper in the small intestine and kidneys and to copper deficiencies in the brain and the liver. The copper level in the kidney in postnatal copper-treated Menkes patients may reach toxic levels. The mouse model, mosaic Atp7a (mo-ms) recapitulates the Menkes phenotype and die about 15.75±1.5 days of age. In the present study we found that prenatal treatment of mosaic murine fetuses throughout gestation days 7, 11, 15 and 18 with a combination of CuCl(2) (50 mg/kg) and dimethyldithiocarbamate (DMDTC) (280 mg/kg) leads to an increase in survival to about 76±25.3 days, whereas treatment with CuCl(2) alone (50 mg/kg) only leads to survival for about 21 days ±5 days. These copper-DMDTC treated mutants showed an improved locomotor activity performance and a gain in body mass. In contrast to treatment with CuCl(2) alone, a significant increase in the amount of copper was observed in the brain after prenatal copper-DMDTC treatment as well as a decrease in the amount of accumulated copper in the kidney, both leading towards a normalization of the copper level. Although copper-DMDTC prenatal treatment only leads to a small increase in the sub-normal copper concentration in the liver and to an increase of copper in the already overloaded small intestine, the combined results suggest that prenatal copper-DMDTC treatment also should be considered for humans. PMID:22815746

  5. Prenatal sex determination in suspicious cases of X-linked recessive diseases by the amelogenin gene

    PubMed Central

    Rahimi, Amir Abbas; Shahhosseiny, Mohammad Hassan; Ahangari, Ghasem; Izadi Mobarakeh, Jalal

    2014-01-01

    Objective(s): To determine the fetal discernment in suspected cases of sex linked recessive disease in the first trimester of pregnancy. Materials and Methods: After collection of 100 Chorionic Villi samples, the DNAs were extracted and baby gender was determined. Meanwhile, after increasing the sensitivity, the system was able to detect the sex of each cell which was obtained by biopsy. Results: Early fetal gender of 100 Chorionic Villi samples were assessed by PCR. After increasing sensitivity of the assay, the sexes in 13 fetuses that were in different cellular stages were detected. Morover, sexes were detected in two unfertilized and one fertilized ovum but without any division. Conclusion: Sex detection of fetus before delivery in the first trimester of pregnancy, will prevent babies with abnormalities being born. It can also be used in detection of recessive sex related diseases in In Vitro Fertilization cases for sex detection and to transfer female fetus to the mother. Our optimized molecular detection system was designed on the basis of amelogenin gene, which can determine the sex in blood, chorionic villi, and single cell in vitro fertilization with high sensitivity and specificity. PMID:24711898

  6. Sonographic patterns of ribs with tumor involvement.

    PubMed

    Yang, G G; Wu, H D; Yang, P C; Kuo, S H; Luh, K T

    1991-02-01

    We analyzed the sonographic appearance of the ribs when there was tumor involvement in 16 patients (12 men and 4 women). The tumors included 11 carcinomas, 3 nonepithelial malignancies and 2 benign tumors. Three sonographic patterns on the cross section of abnormal ribs were identified. Pattern I was an eccentrical hyperechoic plate-like shadow inside a hypoechoic tumor. Pattern II was a round hyperechoic shadow or ring in the center of a hypoechoic tumor. Pattern III was a hypoechoic tumor only. The Pancoast tumor manifested pattern I. Metastatic cancer, mostly squamous cell carcinoma, manifested pattern II, and both malignant and benign tumors could manifest pattern III. In sonography, the margin and shape of the tumors, the change in the acoustic shadow of the rib and the pleural line did not differentiate the malignant tumors from benign tumors. When we routinely took a biopsy of these tumors under sonar guidance, the diagnostic yield was 100% without any complications. We conclude that the rib should be evaluated in chest sonography, and that pattern recognition and biopsy under sonar guidance are most useful.

  7. Ethical issues in prenatal testing.

    PubMed

    Burgess, M M

    1994-04-01

    Many ethical concerns raised by prenatal testing are based on the use and effects of genetic information in nonclinical contexts. Correct or incorrect beliefs about social uses of genetic information may limit the voluntariness of informed consent to prenatal testing. A qualitative study of persons predictively tested for Huntington's disease illustrates how the social context, in this case the family history of being at risk, affects the interpretation of the genetic information and alters relationships. This constitutes a risk of genetic testing. Prenatal testing also requires ethical analysis based on careful understanding of how social attitudes and nonclinical uses affect voluntariness and potential harm and benefits of testing. Investigators conducting research on prenatal tests share the responsibility to evaluate social attitudes toward at-risk persons, nonclinical uses of genetic information, and the social benefits and harm of such uses.

  8. The "dark tendon sign" (DTS): a sonographic indicator for idiopathic trigger finger.

    PubMed

    Gruber, Hannes; Peer, Siegfried; Loizides, Alexander

    2011-05-01

    Although the diagnosis of "idiopathic trigger finger" (stenosing tenovaginitis) is normally based on clinical examination alone, to date there is no reliable evaluation defining this idiopathic disease beyond an exclusion of secondary causes or an unnecessary sonographic certification of high-grade impairment. By standardized assessment of 32 patients who retrospectively fulfilled the study inclusion criteria and their comparison to a matched group of volunteers, we defined the diagnostic efficiency of the here newly proposed sonographic dark tendon sign (DTS) alone, of impaired tendon gliding alone and the combination of these two features. Pulley thickness in patients and volunteers was significantly different. The combination of clinically impaired tendon gliding plus the DTS reached a sensitivity and diagnostic efficiency of 100%. We propose this diagnostic combination as the new first line assessment features for the quick definition of idiopathic stenosing tendovaginitis during daily routine PMID:21458147

  9. The relationship between prenatal exposure to BP-3 and Hirschsprung's disease.

    PubMed

    Huo, Weiwei; Cai, Peng; Chen, Minjian; Li, Hongxing; Tang, Junwei; Xu, Chao; Zhu, Dongmei; Tang, Weibing; Xia, Yankai

    2016-02-01

    Hirschsprung's disease (HSCR) is neonatal intestinal abnormality which derived from the faliure of enteric neural crest cells migration to hindgut during embryogenesis from 5 to 12 weeks. Currenly, the knowledge of environmental factors contributing to HSCR is still scarce. Benzophenone-3 (BP-3) is one of the most widely used UV filters, and has weak estrogen and strong anti-androgenic effects. In order to examine the effect of maternal BP-3 exposure on development of offspring and explore the potential mechanism, we conducted case and control study and in vitro study. In this work, BP-3 concertrations in maternal urine was detected by ultra-high performance liquid chromatography. Besides, we investigated the cytotoxicity and receptor tyrosine kinase (RET) expression in cells exposed to BP-3. The results showed that maternal BP-3 exposure was associated with offspring's HSCR in the population as well as inhibited migration of 293T and SH-SY5Y cells. What's more, we discovered dose-response relationship between RET expression and BP-3 exposure dose, and miR-218 and some other genes involved in SLIT2/ROBO1-miR-218-RET/PLAG1 pathway were also related to BP-3 exposure. Therefore, we deduced that BP-3 influenced cell migration via SLIT2/ROBO1-miR-218-RET/PLAG1 pathway. Our study firstly revealed the relationship between maternal BP-3 exposure and HSCR as well as its potential mechanism.

  10. Prenatal factors and infant feeding in relation to risk of benign breast disease in young women.

    PubMed

    Berkey, Catherine S; Rosner, Bernard; Willett, Walter C; Tamimi, Rulla M; Lindsay Frazier, A; Colditz, Graham A

    2015-12-01

    Benign breast disease (BBD) is a well-established risk factor for breast cancer, but little work has considered a girl's early life and her risk for BBD in adulthood. We investigated factors, from pre-conception through infant feeding practices, in relation to subsequent BBD risk in young women. The Growing Up Today Study (GUTS) includes 9032 females, born 1980-1987, who completed questionnaires annually from 1996 through 2001, then 2003, 2005, 2007, 2010, and 2013. In 1996, their mothers provided each participant's birth weight and length, gestational age, biological father's height, and infant feeding factors (e.g., breast-fed, type of formula). In 1999, their mothers reported maternal pre-pregnancy weight and weight gain during index pregnancy. Beginning in 2005, daughters (18 years+) reported whether they had ever been diagnosed with biopsy-confirmed BBD (n = 142 cases, through 2013). Logistic regression estimated associations between early life factors and biopsy-confirmed BBD. Girls whose mother's BMI prior to pregnancy was 20-25 kg/m(2) were at lower risk of BBD as young women (OR = 0.66, p = 0.04, vs. maternal pre-pregnancy BMI < 20). Girls whose mothers gained 20 + pounds (vs. <20 pounds) during pregnancy were at lower risk (among full-term singleton births: OR = 0.48, p = 0.007, if mother gained 20-35 pounds). However, neither birth weight nor BMI at birth were associated with subsequent BBD risk. We found no evidence that infant feeding practices were linked to BBD. A healthy maternal BMI before pregnancy and sufficient weight gain during pregnancy may produce daughters at lower risk for BBD as young women. Further examination of these findings is needed.

  11. Prenatal factors and infant feeding in relation to risk of benign breast disease in young women.

    PubMed

    Berkey, Catherine S; Rosner, Bernard; Willett, Walter C; Tamimi, Rulla M; Lindsay Frazier, A; Colditz, Graham A

    2015-12-01

    Benign breast disease (BBD) is a well-established risk factor for breast cancer, but little work has considered a girl's early life and her risk for BBD in adulthood. We investigated factors, from pre-conception through infant feeding practices, in relation to subsequent BBD risk in young women. The Growing Up Today Study (GUTS) includes 9032 females, born 1980-1987, who completed questionnaires annually from 1996 through 2001, then 2003, 2005, 2007, 2010, and 2013. In 1996, their mothers provided each participant's birth weight and length, gestational age, biological father's height, and infant feeding factors (e.g., breast-fed, type of formula). In 1999, their mothers reported maternal pre-pregnancy weight and weight gain during index pregnancy. Beginning in 2005, daughters (18 years+) reported whether they had ever been diagnosed with biopsy-confirmed BBD (n = 142 cases, through 2013). Logistic regression estimated associations between early life factors and biopsy-confirmed BBD. Girls whose mother's BMI prior to pregnancy was 20-25 kg/m(2) were at lower risk of BBD as young women (OR = 0.66, p = 0.04, vs. maternal pre-pregnancy BMI < 20). Girls whose mothers gained 20 + pounds (vs. <20 pounds) during pregnancy were at lower risk (among full-term singleton births: OR = 0.48, p = 0.007, if mother gained 20-35 pounds). However, neither birth weight nor BMI at birth were associated with subsequent BBD risk. We found no evidence that infant feeding practices were linked to BBD. A healthy maternal BMI before pregnancy and sufficient weight gain during pregnancy may produce daughters at lower risk for BBD as young women. Further examination of these findings is needed. PMID:26582399

  12. Pelizaeus-Merzbacher disease: detection of mutations Thr181----Pro and Leu223----Pro in the proteolipid protein gene, and prenatal diagnosis.

    PubMed Central

    Strautnieks, S; Rutland, P; Winter, R M; Baraitser, M; Malcolm, S

    1992-01-01

    A family with an apparent history of X-linked Pelizaeus-Merzbacher disease presented for genetic counseling, requesting carrier detection and prenatal diagnosis. RFLP analysis using the proteolipid protein (PLP) gene probe was uninformative in this family. A prenatal diagnosis on a chorionic villus sample (CVS) was carried out using single-strand conformation polymorphism (SSCP) analysis of a variant in exon 4 of the PLP gene. The fetus was predicted to be unaffected. Sequencing of the exon from the CVS, the predicted-carrier mother, and the obligate-carrier grandmother revealed an A-to-C change at nucleotide 541 in the two women but not in the fetus. As this change results in a Thr-to-Pro change at amino acid 181 in a region of the gene predicted to be part of a transmembrane segment, it was concluded that this was the mutation causing the disease in this family. In addition, in a second family, an exon 5 variant band pattern on SSCP analysis was shown by sequencing to be due to a T-to-C change at nucleotide 668. This results in a Leu-to-Pro change in a carrier mother and in her two affected sons. These results provide further examples of mutations in PLP that cause Pelizaeus-Merzbacher disease and illustrate the value of SSCP in genetic analysis. Images Figure 2 Figure 3 Figure 4 Figure 5 Figure 6 PMID:1384324

  13. Prenatal diagnosis and management in fetuses with cystic hygromata colli.

    PubMed

    Gembruch, U; Hansmann, M; Bald, R; Zerres, K; Schwanitz, G; Födisch, H J

    1988-12-01

    We report on 45 fetuses with prenatally diagnosed bilateral cystic hygromata colli by ultrasound. Two of the 45 cases involved a twin pregnancy with only one fetus showing hygromata colli. In 2 cases there was only isolated hygromata colli. The other 43 cases showed the signs of non-immune hydrops fetalis. The cytogenetic findings were: 9 fetuses with Turner syndrome, 1 fetus with Turner mosaicism, 1 fetus with trisomy 18, 6 fetuses with trisomy 21, 12 fetuses with normal karyotype, and 16 fetuses with a failed chromosome culture. In fetuses with Turner syndrome and normal karyotype the sonographic findings were similar: massive bilateral hygromata colli, substantial fluid accumulations in skin and body cavities, oligohydramnios and intra-uterine growth retardation. In the cases with trisomy 21, the relative size of the hygromata colli was smaller. Intra-uterine growth retardation and oligohydramnios were not observed. The sole survivor of our group (elective pregnancy interruption: 30 cases; intra-uterine death: 14 cases) (karyotype: 46,XY) presented sonographically with massive ascites, a moderate cystic hygroma, and appropriate fetal development, and a normal amniotic fluid quantity. These findings are analysed in order to provide recommendations for prenatal diagnosis, prenatal management and genetic counselling of the couples concerned.

  14. Sonographic surface localization of subcutaneous foreign bodies and masses.

    PubMed

    Creel, Stephanie A; Girish, Gandikota; Jamadar, David A; Morag, Yoav; Jacobson, Jon A

    2009-01-01

    We report a sonographic technique of skin marking of the projection of nonpalpable subcutaneous foreign bodies and masses using a paperclip. Localization and marking of the overlying skin assists in preoperative planning and further management.

  15. Sonographic Findings of Subcutaneous Sarcoidosis in 3 Cases.

    PubMed

    Tada, Saori; Watanabe, Tsuneo; Suzuki, Chigusa; Nohisa, Yuzuru; Shinoda, Koichi; Furuta, Nobuyuki; Ito, Hiroyasu; Okumura, Yoko; Shu, En; Seishima, Mariko

    2015-08-01

    Subcutaneous sarcoidosis occurs infrequently among cases of cutaneous sarcoidosis. To our knowledge, few studies have described the sonographic characteristics of subcutaneous sarcoidosis. Here we report the sonographic characteristics of 3 cases of this condition. Our results revealed 4 features: (1) an irregular hypoechoic appearance, (2) heterogeneous echogenicity, (3) perilesional hyperechoic changes, and (4) abnormal Doppler signals. Sonography is a rapid, simple, and noninvasive procedure that is useful for initial evaluation of granulomatous lesions such as subcutaneous sarcoidosis.

  16. Sonographic investigations of the gastrointestinal tract of granivorous birds.

    PubMed

    Krautwald-Junghanns, Maria-Elisabeth; Stahl, Anja; Pees, Michael; Enders, Frank; Bartels, Thomas

    2002-01-01

    This article describes the sonographic examination of the normal gastrointestinal tract of granivorous birds. Preliminary tests with dead birds were performed to get an idea of the sonographic echotexture of the avian gastrointestinal tract. Later, clinically healthy seedeaters of different weights were examined sonographically. As equipment a convex microcurved scanner with a particularly small coupling surface and an adjustable frequency from 5.5-7.5 MHz was used. For the investigation of the gastrointestinal tract, six sonographic approaches are described. After a starving time of 18 hours in the granivorous birds and water input, the best sonographic image quality could be obtained. Using this method, the crop, ventriculus, intestines, and cloaca could be demonstrated sonographically; whereas, it was not possible to visualize the normal proventriculus in granivorous birds. In contrast to mammals, the different layers of the wall of the gastrointestinal tract could not be visualized with the equipment used. Motility of individual parts of the gastrointestinal tract (GI tract), however, could be well demonstrated.

  17. Low utilization of prenatal and pre-implantation genetic diagnosis in Huntington disease - risk discounting in preventive genetics.

    PubMed

    Schulman, J D; Stern, H J

    2015-09-01

    Huntington disease (HD) is a late-onset, fatal neurodegenerative disorder caused by a (CAG) triplet repeat expansion in the Huntingtin gene that enlarges during male meiosis. In 1996 in this journal, one of us (J. D. S.) presented a methodology to perform pre-implantation genetic diagnosis in families at-risk for HD without revealing the genetic status of the at-risk parent. Despite the introduction of accurate prenatal and pre-implantation genetic testing which can prevent transmission of the abnormal HD gene in the family permanently, utilization of these options is extremely low. In this article, we examine the decision-making process regarding genetic testing in families with HD and discuss the possible reasons for the low uptake among this group.

  18. Niemann-Pick disease type B: first-trimester prenatal diagnosis on chorionic villi and biochemical study of a foetus at 12 weeks of development.

    PubMed

    Vanier, M T; Boue, J; Dumez, Y

    1985-10-01

    First-trimester prenatal diagnosis of Niemann-Pick disease type B was successfully achieved by sphingomyelinase assay on chorionic villi, performed directly and after 3 weeks' culture. Cultured chorionic cells were normally found to exhibit sphingomyelinase activities 3 times higher than seen in the solid biopsy, and showed a lower residual activity in the affected foetus. Their study may thus prove helpful in dubious cases. Enzyme activities and lipid patterns were studied in several organs of the aborted foetus. Lysosomal sphingomyelinase was deficient in all tissues. The lipid pattern of the brain was normal for the age, but a 4-fold sphingomyelin storage had already taken place in the liver (2.5-fold in the spleen) of this 12-gestational week foetus.

  19. The importance of an ergonomic workstation to practicing sonographers.

    PubMed

    Baker, Joan P; Coffin, Carolyn T

    2013-08-01

    Musculoskeletal disorders have been described in a number of professions over the years. They are defined as injuries that are caused by or aggravated by workplace activities, and they account for up to 60% of all workplace illnesses. They are known by different names, such as musculoskeletal disorder, repetitive strain injury, cumulative trauma disorder, and repetitive motion injury. Musculoskeletal disorders have only been identified in sonographers since 1997 but are increasing in incidence. Surveys done among American and Canadian sonographers in 1997 showed an 84% incidence; however, this incidence had increased to 90% by 2008. Understanding the importance of optimal body mechanics and how to maintain neutral postures will enable sonographers to reduce the risk factors associated with their profession. Even with the most advanced equipment, an ergonomic workstation is only as effective as the person using it.

  20. Alterations in glucocorticoid negative feedback following maternal Pb, prenatal stress and the combination: A potential biological unifying mechanism for their corresponding disease profiles

    SciTech Connect

    Rossi-George, A.; Virgolini, M.B.; Weston, D.; Cory-Slechta, D.A.

    2009-01-01

    Combined exposures to maternal lead (Pb) and prenatal stress (PS) can act synergistically to enhance behavioral and neurochemical toxicity in offspring. Maternal Pb itself causes permanent dysfunction of the body's major stress system, the hypothalamic pituitary adrenal (HPA) axis. The current study sought to determine the potential involvement of altered negative glucocorticoid feedback as a mechanistic basis of the effects in rats of maternal Pb (0, 50 or 150 ppm in drinking water beginning 2 mo prior to breeding), prenatal stress (PS; restraint on gestational days 16-17) and combined maternal Pb + PS in 8 mo old male and female offspring. Corticosterone changes were measured over 24 h following an i.p. injection stress containing vehicle or 100 or 300 {mu}g/kg (females) or 100 or 150 {mu}g/kg (males) dexamethasone (DEX). Both Pb and PS prolonged the time course of corticosterone reduction following vehicle injection stress. Pb effects were non-monotonic, with a greater impact at 50 vs. 150 ppm, particularly in males, where further enhancement occurred with PS. In accord with these findings, the efficacy of DEX in suppressing corticosterone was reduced by Pb and Pb + PS in both genders, with Pb efficacy enhanced by PS in females, over the first 6 h post-administration. A marked prolongation of DEX effects was found in males. Thus, Pb, PS and Pb + PS, sometimes additively, produced hypercortisolism in both genders, followed by hypocortisolism in males, consistent with HPA axis dysfunction. These findings may provide a plausible unifying biological mechanism for the reported links between Pb exposure and stress-associated diseases and disorders mediated via the HPA axis, including obesity, hypertension, diabetes, anxiety, schizophrenia and depression. They also suggest broadening of Pb screening programs to pregnant women in high stress environments.

  1. Positive predictive value and completeness of prenatally assigned International Classification of Disease-10 kidney anomaly diagnoses in the Danish National Patient Registry

    PubMed Central

    Rasmussen, Maria; Olsen, Morten Smærup; Sunde, Lone; Pedersen, Lars; Petersen, Olav Bjørn

    2016-01-01

    Objective Restricting studies of severe congenital malformations to live-born children may introduce substantial bias. In this study, we estimated the attendance to the second-trimester fetal malformation screening program. We also estimated the positive predictive value (PPV) of prenatally assigned International Classification of Disease-10 diagnoses recorded in the Danish National Patient Registry (DNPR) and the completeness of case registration. We used kidney anomalies as an example. Methods We identified the proportion of all Danish live-born children from January 1, 2007 to December 31, 2012, who were scanned during the second trimester using the DNPR and the Civil Registration System. Details of all fetuses with specific kidney anomaly diagnoses according to the DNPR were retrieved. The PPV was estimated using the nationwide Astraia database of pregnancy medical charts or traditional medical charts, as gold standard. The completeness was assessed using the total number of cases estimated by the capture–recapture method. Results Of 372,263 live born infants, 97.3% were scanned during the second trimester. We identified 172 fetuses in the DNPR. Of these, 149 had kidney anomalies according to Astraia or medical chart review, corresponding to a PPV of 87% (95% CI: 81%–91%). The estimated completeness was 43% (95% CI: 38%–49%) for the DNPR and 75% (95% CI: 70%–79%) for Astraia. Conclusion Almost all live-born children were scanned during the second trimester in Denmark. However, low completeness may hamper the use of the DNPR for studies of prenatally detected severe malformations, and use of the Astraia database may preferably be considered. PMID:26855599

  2. Prenatal and Perinatal Determinants of Lung Health and Disease in Early Life: A National Heart, Lung, and Blood Institute Workshop Report.

    PubMed

    Manuck, Tracy A; Levy, Philip T; Gyamfi-Bannerman, Cynthia; Jobe, Alan H; Blaisdell, Carol J

    2016-05-01

    Human lung growth and development begins with preconception exposures and continues through conception and childhood into early adulthood. Numerous environmental exposures (both positive and negative) can affect lung health and disease throughout life. Infant lung health correlates with adult lung function, but significant knowledge gaps exist regarding the influence of preconception, perinatal, and postnatal exposures on general lung health throughout life. On October 1 and 2, 2015, the National Heart, Lung, and Blood Institute convened a group of extramural investigators to develop their recommendations for the direction(s) for future research in prenatal and perinatal determinants of lung health and disease in early life and to identify opportunities for scientific advancement. They identified that future investigations will need not only to examine abnormal lung development, but also to use developing technology and resources to better define normal and/or enhanced lung health. Birth cohort studies offer key opportunities to capture the important influence of preconception and obstetric risk factors on lung health, development, and disease. These studies should include well-characterized obstetrical data and comprehensive plans for prospective follow-up. The importance of continued basic science, translational, and animal studies for providing mechanisms to explain causality using new methods cannot be overemphasized. Multidisciplinary approaches involving obstetricians, neonatologists, pediatric and adult pulmonologists, and basic scientists should be encouraged to design and conduct comprehensive and impactful research on the early stages of normal and abnormal human lung growth that influence adult outcome. PMID:26953657

  3. Sonographer registration in the United Kingdom - a review of the current situation.

    PubMed

    Thomson, Nigel; Paterson, Audrey

    2014-02-01

    There is no statutory registration as a sonographer available in the United Kingdom (UK) and the titles of 'sonographer' and 'ultrasonographer' are not legally protected. The majority of sonographers are statutorily registered with the Health and Care Professions Council or Nursing and Midwifery Council as they have a professional background as a radiographer, clinical scientist, nurse, physiotherapist or midwife that allows this, but this registration is not as a sonographer. For otherwise well-qualified and experienced sonographers, statutory registration is impossible to achieve at the present time and they have no statutory regulatory home. This can lead to problems for the sonographers themselves, for the patients and public in terms of protection and for employers when selecting staff. This paper discusses the complex registration situation for sonographers in the UK and includes reference to the alternative voluntary registers and their possible accreditation by the Professional Standards Authority. PMID:27433193

  4. Sonographic training in rheumatology: a self teaching approach

    PubMed Central

    Filippucci, E; Unlu, Z; Farina, A; Grassi, W

    2003-01-01

    Methods: The novice was given short general training (two hours) by an experienced sonographer focusing on the approach to the ultrasound equipment, and asked to obtain the best sonographic images of different anatomical areas as similar as possible to the "gold standard" pictures in the online version of the guidelines for musculoskeletal ultrasonography in rheumatology (free access at http://www.sameint.it/eular/ultrasound). At the end of each scanning session, both novice and tutor scored "blindly" all the images from 0 (the lowest quality) to 10 (the highest quality), with a minimum quality score of 6 considered acceptable for standard clinical use. The tutor then explained how to improve the quality of the pictures. Fourteen consecutive inpatients (seven with rheumatoid arthritis, three with psoriatic arthritis, two with reactive arthritis, and two with osteoarthritis) and five healthy subjects were examined. Ultrasound examinations were performed with a Diasus (Dynamic Imaging Ltd, Livingston, Scotland, UK) using two broadband linear probes of 5–10 and 8–16 MHz frequency. Results: Sonographic training lasted one month and included 30 scanning sessions (24 hours of active scanning). 243 images were taken of the selected anatomical areas. The mean time required to produce each image was 6 minutes (SD 4.2; range 1–30). At the end of the training, the novice scored ⩾6 for each standard scan. Conclusion: A novice can obtain acceptable sonographic images in 24 non-consecutive hours of active scanning after an intensive self teaching programme. PMID:12759296

  5. Length to width ratio of the ductus venosus in simple screening for fetal congenital heart diseases in the second trimester.

    PubMed

    Chiu, Wei-Hsiu; Lee, Shy-Ming; Tung, Tao-Hsin; Tang, Xiao-Mei; Liu, Ren-Shyan; Chen, Ran-Chou

    2016-09-01

    Antenatal diagnosis of congenital heart disease (CHD) is still low even though screening was first introduced over 25 years ago. The purpose of our study was to determine the efficacy of a second-trimester prenatal ultrasonographic method of screening for CHD.From September 2012 to September 2013, the length and width of the fetal ductus venosus were measured sonographically in 1006 singleton fetuses, and the ratio of length to width was calculated. The accuracy of each fetal measurement and Doppler ultrasonography were determined. The standard fetal echocardiographic evaluations including 2-dimensional gray-scale imaging, color, and Doppler color flow mapping were performed. The transducer was aligned to the long axis of the fetal trunk to view the ductus venosus in its full length, including the inlet (isthmus) and outlet portions of the vessel. The diameters of the vessel inner wall and mid-point of the ductus venosus were measured using calipers. All scans and fetal measurements were conducted by a registered sonographer with more than 20 years of perinatal ultrasound screening experience.Of the 1006 singleton fetuses between 19 and 28 weeks' gestation, 36 had CHD. The ductus venosus length/width ratio (DVR) for the first CHD screening was extremely sensitive at 88.90%, with a specificity of 99.10% for the cardiac abnormalities included in this study. Chromosomal anomalies accompanied CHD in 0.4% (4/1006) of all cases and 11.11% (4/36) of the CHD cases.The DVR differed significantly between fetuses with CHD and normal fetuses during the second trimester. Careful assessment of the ratio should be a part of the sonographic examination of every fetus. In the case of a small DVR, advanced echocardiography and karyotype analysis should be performed. The ratio is a helpful tool for screening CHD abnormalities prenatally in the Chinese population. PMID:27684831

  6. Gaucher disease with prenatal onset and perinatal death due to compound heterozygosity for the missense R131C and null Rec Nci I GBA mutations.

    PubMed

    Goebl, April; Ferrier, Raechel A; Ferreira, Patrick; Pinto-Rojas, Alfredo; Matshes, Evan; Choy, Francis Y M

    2011-01-01

    Gaucher disease is an autosomal recessive disorder resulting from deficient activity of the lysosomal enzyme glucocerebrosidase (GBA, E.C.3.2.1.45). Three clinical forms of Gaucher disease have been described: type 1, nonneuronopathic; type 2, acute neuronopathic; and type 3, subacute neuronopathic (OMIM 230800, 230900, 231000). Over the past decade, recognition of a distinct, perinatal lethal form of Gaucher disease (PLGD) has led researchers and clinicians to evaluate Gaucher disease in the differential diagnosis of congenital ichthyosis and nonimmune hydrops fetalis. To date, more than 30 cases of PLGD have been genotyped and reported. It has been observed that homozygosity for recombinant GBA alleles, which are fundamentally null alleles, leads to early lethality, usually in utero or during the 1st few days of life, whereas genotypes involving a recombinant allele and a missense mutation may be less detrimental. Here, we report a case of Gaucher disease with prenatal onset and death within hours of birth, likely due to compound heterozygosity for the GBA Rec Nci I null allele and a R131C missense mutation. In view of the patient's severe clinical course, and based on reviews of other PLGD cases, we postulate that a missense mutation that abruptly disrupts the structure/function of GBA, in combination with a null allele, may result in early lethality in patients with PLGD. We also speculate that R131C is an extremely severe mutation that has occurred more than once in different populations and, in either the homozygous form or heterozygous with another severe mutation, will result in a poor prognosis.

  7. Prenatal Programming and Toxicity (PPTOX) Introduction.

    PubMed

    Birnbaum, Linda S; Miller, Mark F

    2015-10-01

    The developmental origin of health and disease hypothesis posits that early-life exposures, including prenatal, can influence disease outcomes throughout the entire lifespan of an organism. Over the past 30 years, scientific researchers have compiled robust epidemiological and mechanistic data showing the effects of early-life nutrition, chemical exposures, and stress on prenatal programing and toxicity. Using novel techniques in genomics and epigenetics, science is now establishing strong links between low-level early-life environmental exposures and the later development of noncommunicable diseases, such as cardiovascular disease, obesity, diabetes, neurodevelopmental and neurodegenerative disease, reproductive effects, immune system function and cancer. Now scientists must engage with communities, industry, policy makers, and clinicians to leverage our newfound understanding of prenatal programing and toxicity into better health outcomes across the lifespan. PMID:26241073

  8. Prenatal Programming and Toxicity (PPTOX) Introduction.

    PubMed

    Birnbaum, Linda S; Miller, Mark F

    2015-10-01

    The developmental origin of health and disease hypothesis posits that early-life exposures, including prenatal, can influence disease outcomes throughout the entire lifespan of an organism. Over the past 30 years, scientific researchers have compiled robust epidemiological and mechanistic data showing the effects of early-life nutrition, chemical exposures, and stress on prenatal programing and toxicity. Using novel techniques in genomics and epigenetics, science is now establishing strong links between low-level early-life environmental exposures and the later development of noncommunicable diseases, such as cardiovascular disease, obesity, diabetes, neurodevelopmental and neurodegenerative disease, reproductive effects, immune system function and cancer. Now scientists must engage with communities, industry, policy makers, and clinicians to leverage our newfound understanding of prenatal programing and toxicity into better health outcomes across the lifespan.

  9. Prenatal diagnosis of two different unbalanced forms of an inherited (Y;12) translocation.

    PubMed

    Mademont-Soler, Irene; Morales, Carme; Madrigal, Irene; Margarit, Ester; Bruguera, Jordi; Clusellas, Núria; Martínez, José M; Borrell, Antoni; Sánchez, Aurora; Soler, Anna

    2009-12-01

    The identification of an unexpected structural chromosome rearrangement at prenatal diagnosis can be problematic and raises unique genetic counseling issues. We describe two consecutive prenatal cases within a family with an inherited unbalanced (Y;12) translocation and discuss the genotype-phenotype correlation. The first fetus presented with 12qter monosomy and pseudoautosomal region 2 trisomy, while the second fetus had the alternative unbalanced state. Although the first fetus had a structural heart defect, such small imbalances might not give sonographic findings, making their prenatal diagnosis difficult. However, congenital abnormalities are expected in both unbalanced forms of the translocation, including mental retardation, which could be explained by the gene dosage variation of P2RX2. To our knowledge, these are the first published cases reporting this subtype of (Y;12) translocation, in both balanced and unbalanced states. PMID:19921651

  10. ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of Eastern European Jewish descent.

    PubMed

    2009-10-01

    Certain autosomal recessive disease conditions are more prevalent in individuals of Eastern European Jewish (Ashkenazi) descent. Previously, the American College of Obstetricians and Gynecologists recommended that individuals of Eastern European Jewish ancestry be offered carrier screening for Tay-Sachs disease, Canavan disease, and cystic fibrosis as part of routine obstetric care. Based on the criteria used to justify offering carrier screening for Tay-Sachs disease, Canavan disease, and cystic fibrosis, the American College of Obstetricians and Gynecologists' Committee on Genetics recommends that couples of Ashkenazi Jewish ancestry also should be offered carrier screening for familial dysautonomia. Individuals of Ashkenazi Jewish descent may inquire about the availability of carrier screening for other disorders. Carrier screening is available for mucolipidosis IV, Niemann-Pick disease type A, Fanconi anemia group C, Bloom syndrome, and Gaucher disease. PMID:19888064

  11. Intrauterine metabolic programming alteration increased susceptibility to non-alcoholic adult fatty liver disease in prenatal caffeine-exposed rat offspring.

    PubMed

    Wang, Linlong; Shen, Lang; Ping, Jie; Zhang, Li; Liu, Zhongfen; Wu, Yong; Liu, Yansong; Huang, Hegui; Chen, Liaobin; Wang, Hui

    2014-01-30

    An increase in susceptibility to metabolic syndromes (MetS) in rat offspring that experienced prenatal caffeine exposure (PCE) has been previously demonstrated. The present study aimed to clarify this increased susceptibility and elucidate the mechanism of foetal origin that causes or contributes to adult non-alcoholic fatty liver disease (NAFLD) as a result of PCE. Based on the results from both foetal and adult studies of rats that experienced PCE (120 mg/kgd), the foetal weight and serum triglyceride levels decreased significantly and hepatocellular ultrastructure was altered. Foetal livers exhibited inhibited insulin-like growth factor-1 (IGF-1), enhanced lipogenesis and reduced lipid output. In adult female offspring of PCE+lab chow, lipid synthesis, oxidation and output were enhanced, whereas lipogenesis was inhibited in their male conterparters. Furthermore, in adult offspring of PCE+ high-fat diet, catch-up growth appeared obvious with enhanced hepatic IGF-1, especially in females. Both males and females showed increased lipid synthesis and reduced output, which were accompanied by elevated serum triglyceride. Severe NAFLD appeared with higher Kleiner scores. Gluconeogenesis was continuously enhanced in females. Therefore, increased susceptibility to diet-induced NAFLD in PCE offspring was confirmed, and it appears to be mediated by intrauterine glucose and alterations in lipid metabolic programming. This altered programming enhanced foetal hepatic lipogenesis and reduced lipid output in utero, which continued into the postnatal phase and reappeared in adulthood with the introduction of a high-fat diet, thereby aggravating hepatic lipid accumulation and causing NAFLD.

  12. Pancreatic changes in cystic fibrosis: CT and sonographic appearances

    SciTech Connect

    Daneman, A.; Gaskin, K.; Martin, D.J.; Cutz, E.

    1983-10-01

    The computed tomographic (CT) and sonographic appearances of the late stages of pancreatic damage in three patients with cystic fibrosis are illustrated. All three had severe exocrine pancreatic insufficiency with steatorrhea. In two patients CT revealed complete fatty replacement of the entire pancreas. In the third, increased echogenicity of the pancreas on sonography and the inhomogeneous attenuation on CT were interpreted as being the result of a combination of fibrosis, fatty replacement, calcification, and probable cyst formation.

  13. Prenatal stress due to a natural disaster predicts insulin secretion in adolescence.

    PubMed

    Dancause, Kelsey N; Veru, Franz; Andersen, Ross E; Laplante, David P; King, Suzanne

    2013-09-01

    Prenatal stress might increase cardiometabolic disease risk. We measured prenatal stress due to an ice storm in 1998, and measured glucose tolerance among a subsample of 32 exposed adolescents in 2011. Severity of stress was positively associated with insulin secretion, suggesting that prenatal stress independently predicts metabolic outcomes in adolescence.

  14. Sonographic and cytopathologic correlation of papillary thyroid carcinoma variants.

    PubMed

    Lee, Ji Hyun; Shin, Jung Hee; Lee, Hyun-Woo; Oh, Young Lyun; Hahn, Soo Yeon; Ko, Eun Young

    2015-01-01

    Papillary thyroid carcinoma (PTC) is the most common thyroid cancer and constitutes more than 70% of thyroid malignancies. Although TNM staging is the most widely used parameter for determination of therapeutic plans, recent studies have suggested that different histopathologic variants of PTC can also have different clinical courses and patient prognoses. Sonographic criteria for PTC are well established and include a taller-than-wide shape, an irregular margin, microcalcifications, and marked hypoechogenicity. The role of sonography has expanded to enable the characterization of PTC variants based on their sonographic features. Tall cell and diffuse sclerosing variants appear to have more aggressive clinical courses with unfavorable prognoses, whereas the more recently described cribriform-morular and Warthin-like variants have relatively indolent clinical courses. The prognoses of patients with follicular, solid, columnar cell, and oncocytic variants are still controversial and may be similar to the prognosis of conventional PTC. Understanding the sonographic characteristics of PTC variants with clinicopathologic correlation may be helpful for suggesting an appropriate treatment plan.

  15. [Massive increase of foetal abdominal circumference due to hereditary polycystic kidney disease].

    PubMed

    Dukic, L; Schaffelder, R; Schaible, T; Sütterlin, M; Siemer, J

    2010-06-01

    Autosomal recessive polycystic kidney disease (ARPKD) is a rare condition with a poor prognosis. We report on a 30-year-old primagravid woman in the 34th) week of gestation who was admitted to our hospital. ARPKD of the foetus had been sonographically suspected since the 26th week of gestation. Ultrasound examination showed big polycystic kidneys on both sides. The non-consanguineous parents wanted a maximum therapy for the infant. Foetal digitalisation because of heart insufficiency and prophylactic lung maturation was started. In the further course, Doppler sonographic values worsened and a Caesarean section was performed in the 34th week of gestation at the demand of the parents and due to the expected problems in case of a vaginal delivery. The weight of the newborn was 3,780 g and the abdominal circumference was 50 cm. The newborn was intubated immediately after birth and artificial ventilation was performed. Extracorporeal membrane oxygenation was not possible due to the bad cardial condition. The boy died 16 h after delivery. The parents refused genetic examination and autopsy of the newborn. ARPKD is a severe disease that may have obstetric relevance, due to the massively increased abdominal circumference. Therefore, termination of pregnancy or preterm induction of labor should be considered in order to avoid Caesarean section. Additionally, early prenatal diagnosis with genetic analysis of PRKD1 in cases of suspected ARPKD can be helpful. PMID:20574939

  16. Terms, definitions and measurements to describe sonographic features of myometrium and uterine masses: a consensus opinion from the Morphological Uterus Sonographic Assessment (MUSA) group.

    PubMed

    Van den Bosch, T; Dueholm, M; Leone, F P G; Valentin, L; Rasmussen, C K; Votino, A; Van Schoubroeck, D; Landolfo, C; Installé, A J F; Guerriero, S; Exacoustos, C; Gordts, S; Benacerraf, B; D'Hooghe, T; De Moor, B; Brölmann, H; Goldstein, S; Epstein, E; Bourne, T; Timmerman, D

    2015-09-01

    The MUSA (Morphological Uterus Sonographic Assessment) statement is a consensus statement on terms, definitions and measurements that may be used to describe and report the sonographic features of the myometrium using gray-scale sonography, color/power Doppler and three-dimensional ultrasound imaging. The terms and definitions described may form the basis for prospective studies to predict the risk of different myometrial pathologies, based on their ultrasound appearance, and thus should be relevant for the clinician in daily practice and for clinical research. The sonographic features and use of terminology for describing the two most common myometrial lesions (fibroids and adenomyosis) and uterine smooth muscle tumors are presented.

  17. Prenatal diagnosis of a bronchogenic cyst in an unusual site.

    PubMed

    Bagolan, P; Bilancioni, E; Nahom, A; Trucchi, A; Inserra, A; Neri, M; Spina, V; Giorlandino, C

    2000-01-01

    We report a rare case of a subdiaphragmatic cyst, diagnosed prenatally during routine ultrasound screening at 25 weeks' gestation. Serial ultrasonographic evaluation demonstrated a slight increase in the size of the cyst during pregnancy. On the basis of the anatomic site and the sonographic features of the lesion, four diagnostic hypotheses were postulated: cystic neuroblastoma, adrenal hemorrhage, duplication of the inferior third of the esophagus and retroperitoneal cystic lymphangioma. A healthy baby, weighing 3300 g and with Apgar scores of 8 and 9, was delivered vaginally at term. He underwent successful surgery at the age of 3 months. The post-operative course was uneventful and the baby is currently doing well. Histology revealed a bronchogenic cyst.

  18. Postnatal donor lymphocytes enhance prenatally-created chimerism at the risk of graft-versus-host disease.

    PubMed

    Chen, Jeng-Chang; Ou, Liang-Shiou; Yu, Hsiu-Yueh; Kuo, Ming-Ling; Chang, Pei-Yeh; Chang, Hsueh-Ling

    2015-01-01

    The major barrier to clinical application of in utero hematopoietic stem cell transplantation is insufficient chimerism for phenotypic correction of target diseases or induction of graft tolerance. Postnatal donor lymphocyte infusion (DLI) may enhance donor cell levels so as to further facilitate tolerance induction. We created murine mixed chimeras in utero. Chimeras with <10% donor cells were subjected to postnatal DLI to evaluate the effects of DLI on chimerism augmentation and skin tolerance induction. Within one day after DLI, recipients experienced a transient peaking of donor chimerism, which could be as high as 20~40%. However, the transient chimerism peaking didn't benefit donor skin survivals despite immediate skin placement after DLI. In case of fruitful DLI, chimerism augmentation was usually observed after a latent period of 2~4 weeks. Otherwise, chimerism would return to around pre-DLI levels by days 7~14. Peripheral chimerism of >3% could be consistently boosted up to >10%, whereas chimerism of <0.2% hardly showed any significant enhancement. As for chimerism levels of 0.2~3%, chimerism augmentation up to >10% succeeded in 3(15%) of 20 recipients. Notably, chimerism augmentation by postnatal DLI was often associated with unexpected death or graft-versus-host disease (GVHD). In conclusion, transient chimerism augmentation by DLI played no role in facilitating graft tolerance. Substantial augmentation by DLI demanded a threshold chimerism level and posed a serious risk of GVHD to the recipients. It raised the concern about using postnatal DLI to broaden therapeutic horizons of in utero hematopoietic stem cell transplantation.

  19. Prenatal Evaluation of MicroRNA Expressions in Pregnancies with Down Syndrome

    PubMed Central

    Erturk, Biray; Karaca, Emin; Guler, Ahmet; Buke, Baris; Yeniel, Ahmet Ozgur; Ozkinay, Ferda; Ozeren, Mehmet; Kazandi, Mert; Akercan, Fuat; Sagol, Sermet; Gunduz, Cumhur

    2016-01-01

    Background. Currently, the data available on the utility of miRNAs in noninvasive prenatal testing is insufficient in the literature. We evaluated the expression levels of 14 miRNAs located on chromosome 21 in maternal plasma and their utility in noninvasive prenatal testing of Down Syndrome. Method. A total of 56 patients underwent invasive prenatal testing; 23 cases were carrying Down Syndrome affected fetuses, and 33 control cases carrying unaffected, normal karyotype fetuses were included for comparison. Indications for invasive prenatal testing were advanced maternal age, increased risk of Down Syndrome in screening tests, and abnormal finding in the sonographic examination. In both the study and control groups, all the pregnant women were at 17th and 18th week of gestation. miRNA expression levels were measured using real-time RT-PCR. Results. Significantly increased maternal plasma levels of miR-3156 and miR-99a were found in the women carrying a fetus with Down Syndrome. Conclusion. Our results provide a basis for multicenter studies with larger sample groups and microRNA profiles, particularly with the microRNAs which were found to be variably expressed in our study. Through this clinical research, the utility of microRNAs in noninvasive prenatal testing can be better explored in future studies. PMID:27110565

  20. The student's dilemma, liver edition: incorporating the sonographer's language into clinical anatomy education.

    PubMed

    Hall, M Kennedy; Mirjalili, S Ali; Moore, Christopher L; Rizzolo, Lawrence J

    2015-01-01

    Anatomy students are often confused by multiple names ascribed to the same structure by different clinical disciplines. Increasingly, sonography is being incorporated into clinical anatomical education, but ultrasound textbooks often use names unfamiliar to the anatomist. Confusion is worsened when ultrasound names ascribed to the same structure actually refer to different structures. Consider the sonographic main lobar fissure (MLF). The sonographic MLF is a hyper-echoic landmark used by sonographers of the right upper quadrant. Found in approximately 70% of people, there is little consensus on what the sonographic MLF is anatomically. This structure appears to be related to the main portal fissure (aka principal plane of the liver or principal hepatic fissure), initially described by anatomists and surgeons as in intrahepatic division along the middle hepatic vein which in essence divides the territories of the left and right hepatic arteries and biliary systems. By exploring the relationship between the main portal fissure and the sonographic MLF in cadaveric livers ex vivo, the data suggest the sonographic MLF is actually an extrahepatic structure that parallels the rim of the main portal fissure. The authors recommend that this structure be renamed the "sonographic cystic pedicle," which includes the cystic duct and ensheathing fat and blood vessels. In the context of the redefined underlying anatomy, the absence of the sonographic cystic pedicle due to anatomic variation may serve an important clinical role in predicting complications from difficult laparoscopic cholecystectomies and is deserving of future study.

  1. Sonographers' Complex Communication during the Obstetric Sonogram Exam: An Interview Study

    ERIC Educational Resources Information Center

    Brasseur, Lee

    2012-01-01

    A study of the oral communication experiences and training of obstetric sonographers can provide insight into the complex expectations these medical professionals face as they complete their technical tasks and communicate with patients. Unlike other diagnostic medical professionals, obstetric sonographers are expected to provide detailed…

  2. Prenatal testing for genetic disorders among Arabs.

    PubMed

    Zlotogora, J; Reshef, N

    1998-03-01

    Since, at least in the near future, prenatal testing and abortion of affected fetuses will remain the main way of the prevention of genetic diseases, knowledge about the way of its acceptance in different cultures is important. The Israeli population includes two major groups: Jewish and Arabs, but while there is wide experience about the Jewish population and its attitude towards prenatal testing, little is known about the Arab population. This knowledge is particularly important, since genetic disorders are relatively frequent in the Arab world (Teebi and Farag, 1997). From 1992 to 1996, 816 prenatal tests were performed in our department on Arab women [143 chorionic villus sampling (CVS) procedures and 673 amniocenteses]. The indication for an early prenatal test was a high risk for a monogenic disorder in 140 out of the 146 tests performed (143 CVS procedures and three early amniocenteses). In 26 cases, the fetus was found to be affected and early abortion was chosen by the couple in 25 cases (96 per cent). The 670 late prenatal tests were done for various reasons including monogenic disorders (13 per cent), increased risk because of a previous child affected with Down syndrome or a neural tube defect (4.8 per cent), and an increased risk for a chromosomal aberration (78 per cent). In 31 cases of a late prenatal test, the fetus was found to be affected and only 21 couples (70 per cent) opted for an abortion. The major reason for this observation is probably related to religious and cultural factors. Since Arab women do not wish to have prenatal testing for only knowledge or reassurance, these factors should be taken into consideration during pre-amniocentesis counselling. PMID:9556038

  3. Prenatal diagnosis of achondrogenesis.

    PubMed

    Golbus, M S; Hall, B D; Filly, R A; Poskanzer, L B

    1977-09-01

    Severe rhizomelic and mesomelic dwarfism was demonstrated in a 20-week gestation fetus by amniography. A systematic progressive approach to prenatal diagnosis in the absence of a definitive diagnosis and the use of contrast radiography is discussed. PMID:894421

  4. Invasive Prenatal Testing

    PubMed Central

    Hunter, A.

    1988-01-01

    Invasive prenatal diagnosis is a major diagnostic tool which is used in modern obstetrical care. A synopsis of these techniques is provided to assist the family practitioner in providing this information to his patients. PMID:21253097

  5. Sonographic assessment of renal length in children: a reappraisal.

    PubMed

    Zerin, J M; Blane, C E

    1994-01-01

    Ultrasonography (US) has largely replaced the intravenous urogram as the first modality for the evaluation of the kidneys in children suspected of having urinary tract abnormalities. Because many renal disorders are associated with changes in the sizes of the kidneys, normative standards for assessing renal size have been developed. These standards rely upon comparison of the renal lengths or calculated volumes or both, with various assessments of overall body size, including body surface area, weight, height, and chronological age. We discuss some of the limitations of US in assessing renal size in children. Practical recommendations are offered for optimizing the measurement and interpretation of sonographic renal sizes in children.

  6. Sonographically guided cryoneurolysis: preliminary experience and clinical outcomes.

    PubMed

    Friedman, Talia; Richman, Daniel; Adler, Ronald

    2012-12-01

    Chronic peripheral nerve pain is a common problem that can arise from numerous causes, for which neurolysis is a therapeutic option. It is postulated that cryotherapy will have less adverse events than other methods of nerve ablation. A retrospective case series review was performed in patients who had undergone sonographically guided cryoneurolysis for Morton neuromas, postsurgical and posttraumatic neuromas, and idiopathic neuralgia. Fifteen of 20 patients had a positive response to cryoneurolysis, as did 2 of 4 patients with borderline symptoms for chronic regional pain syndrome. In view of our positive results, we believe that cryoneurolysis should be considered a reasonable option in performing neurolytic therapy.

  7. Increased Burden of Respiratory Disease in the First Six Months of Life Due to Prenatal Environmental Tobacco Smoke: Krakow Birth Cohort Study

    ERIC Educational Resources Information Center

    Jedrychowski, Wieslaw; Galas, Alek Sander; Flak, Elzbieta; Jacek, Ryszard; Penar, Agnieszka; Spengler, John; Perera, Frederica P.

    2007-01-01

    The main purpose of our study was to assess the effects of prenatal tobacco smoke on respiratory symptoms and on doctor consultations in a birth cohort of 445 infants who had no smoking mothers and who had no postnatal exposure to environmental tobacco smoke (ETS). Before and after delivery, questionnaires and interviews with mothers were…

  8. Pelizaeus-Merzbacher disease: Detection of mutations Thr[sup 181][yields]Pro and Leu[sup 223][yields]Pro in the proteolipid protein gene, and prenatal diagnosis

    SciTech Connect

    Strautnieks, S.; Rutland, P.; Malcolm, S.; Baraitser, M. ); Winter, R.M. )

    1992-10-01

    A family with an apparent history of X-linked Pelizaeus-Merzbacher disease presented for genetic counseling, requesting carrier detection and prenatal diagnosis. RFLP analysis using the proteolipid protein (PLP) gene probe was uninformative in this family. A prenatal diagnosis on a chorionic villus sample (CVS) was carried out using single-strand conformation polymorphism (SSC) analysis of a variant in exon 4 of the PLP gene. The fetus was predicted to be unaffected. Sequencing of the exon from the CVS, the predicted-carrier mother, and the obligate-carrier grandmother revealed an A-to-C change at nucleotide 541 in the two women but not in the fetus. As this change results in a Thr-to-Pro change at amino acid 181 in a region of the gene predicted to be part of a transmembrane segment, it was concluded that this was the mutation causing the disease in this family. In addition, in a second family, an exon 5 variant band pattern on SSCP analysis was shown by sequencing to be due to a T-to-C change at nucleotide 668. This results in a Leu-to-Pro change in a carrier mother and in her two affected sons. These results provide further examples of mutations in PLP that cause Pelizaeus-Merzbacher disease and illustrate the value of SSCP in genetic analysis. 17 refs., 6 figs., 1 tab.

  9. Prenatal diagnosis of osteochondrodysplasias in high risk pregnancy.

    PubMed

    Gordienko IYu; Grechanina EYa; Sopko, N I; Tarapurova, E N; Mikchailets, L P

    1996-05-01

    We collected data on 39 prenatally diagnosed osteochondrodysplasias. We detected 30 (76.9%) cases in the first and second trimesters, including 18 (46.2%) with two twins before the 24th week of gestation. Of 39 cases 11 (28.2%) had osteogenesis imperfecta (OI) type II. Verification of the prenatal diagnosis was attempted in 26 cases on the basis of the data obtained from ultrasonographs, radiographs, external examination, and autopsy protocols. The prenatal diagnosis was confirmed in 19 (73%) fetuses. In 13 cases verification was not possible because one or several investigations could not be performed. Counselling followed all identified cases with osteochondrodysplasia. We present the pedigree of two families indicating the possibility of early prenatal diagnosis of achondrogenesis type I and metatropic dysplasia. We propose indications for ultrasonographic anatomical screening with subsequent phenotype analysis in high risk pregnancy to provide for the prenatal detection of malformations and hereditary diseases. PMID:8723093

  10. Clinical, pathological and sonographic characteristics of unexpected gallbladder carcinoma

    PubMed Central

    Wang, Jin-Huan; Liu, Bo-Ji; Xu, Hui-Xiong; Sun, Li-Ping; Li, Dan-Dan; Guo, Le-Hang; Liu, Lin-Na; Xu, Xiao-Hong

    2015-01-01

    Objectives: To investigate the clinical, pathological, and sonographic characteristics of unexpected gallbladder carcinoma (UGC). Methods: Of 5424 patients who had undergone cholecystectomy from December 2006 to October 2013, 54 patients with primary gallbladder carcinomas confirmed by pathological diagnosis were identified. The patients were divided into two groups: diagnosed before operation (n=34) and UGC groups (n=20), of whom the clinical, pathological, and sonographic characteristics were compared. Results: No significant differences in age, gender, location of lesion, histological type, length of the gallbladder, existence of biliary sludge, and intestinal gas interference between the two groups were found (all P>0.05). The clinical symptoms, laboratory abnormalities, tumor markers, coexisting gallbladder stones, lesion size, lesion type, degree of differentiation, and tumor staging showed statistically significant differences between the two groups (all P<0.05). On ultrasound, the width of the gallbladder, gallbladder wall thickness, vascularity on color Doppler ultrasound, and bile volume in the gallbladder showed significant differences (all P<0.05). Conclusions: UGCs are commonly found at an early stage, often well-differentiated, wall thickened, and are generally accompanied with cholelithiasis. UGCs should be taken into consideration in cases with cholelithiasis or small gallbladder on ultrasound. PMID:26379911

  11. Intravesical oxybutinin chloride in children with intermittent catheterization: sonographic findings.

    PubMed

    Zerin, J M; DiPietro, M A; Ritchey, M L; Bloom, D A

    1994-01-01

    The sonographic findings in the bladder are presented in four children with myelomeningocele and neurogenic dysfunction of the bladder, who were treated with intermittent self-catheterization and intravesical oxybutinin chloride. All were referred for routine sonography of the urinary tract. Each had infused a crushed tablet of oxybutinin chloride intravesically 30-120 min before the examination. In two children, brightly echogenic, non-shadowing particles were suspended in the bladder urine. In one of these, the particles swirled giving the impression of a "snowstorm"; in the other, most of the particles gradually settled forming an irregular clump on the bladder base. In the remaining two children, the urine appeared diffusely hazy with innumerable tiny particles giving the impression of a fine mist filling the bladder. The sonographic appearance of the urine in the bladder after intravesical instillation of crushed tablets can be dramatic and can simulate pus, blood, fungus, or other debris in the bladder lumen. In the absence of clinical symptoms or hematuria, a history of recent infusion of medication into the bladder should be sought. PMID:7824373

  12. Intravesical oxybutinin chloride in children with intermittent catheterization: sonographic findings.

    PubMed

    Zerin, J M; DiPietro, M A; Ritchey, M L; Bloom, D A

    1994-01-01

    The sonographic findings in the bladder are presented in four children with myelomeningocele and neurogenic dysfunction of the bladder, who were treated with intermittent self-catheterization and intravesical oxybutinin chloride. All were referred for routine sonography of the urinary tract. Each had infused a crushed tablet of oxybutinin chloride intravesically 30-120 min before the examination. In two children, brightly echogenic, non-shadowing particles were suspended in the bladder urine. In one of these, the particles swirled giving the impression of a "snowstorm"; in the other, most of the particles gradually settled forming an irregular clump on the bladder base. In the remaining two children, the urine appeared diffusely hazy with innumerable tiny particles giving the impression of a fine mist filling the bladder. The sonographic appearance of the urine in the bladder after intravesical instillation of crushed tablets can be dramatic and can simulate pus, blood, fungus, or other debris in the bladder lumen. In the absence of clinical symptoms or hematuria, a history of recent infusion of medication into the bladder should be sought.

  13. Testicular epidermoid cysts: sonographic features with histopathologic correlation.

    PubMed

    Dogra, V S; Gottlieb, R H; Rubens, D J; Oka, M; Di Sant Agnese, A P

    2001-01-01

    Testicular epidermoid cysts are rare, accounting for 1% of all testicular tumors. We present the sonographic appearances of epidermoid cysts in 3 cases, together with the histopathologic correlation. In case 1, sonography showed an intratesticular hypoechoic mass with a well-defined echogenic rim; the mass measured 1.8 x 1.5 x 1.5 cm, and there was no evidence of calcification. In case 2, sonography showed a well-circumscribed mass measuring 1.3 x 1.3 x 1.0 cm, with alternating hypoechoic and hyperechoic rings (onion-ring appearance) and no calcifications. In case 3, sonography showed a 2.4- x 2.3- x 2.3-cm, well-circumscribed, oval mass with a heterogeneous echotexture and an outer hypoechoic halo. The mass contained plaque-like regions of increased echogenicity, with peripheral acoustic shadowing from refraction artifact. Hypoechoic clefts were visualized posterior to the plaque-like areas. The triad of findings-sonographic appearance of an onion ring, avascularity on Doppler sonography, and negative results of tumor marker studies-is highly suggestive of an epidermoid cyst. PMID:11329161

  14. Endorectal sonography in the evaluation of rectal and perirectal disease.

    PubMed

    St Ville, E W; Jafri, S Z; Madrazo, B L; Mezwa, D G; Bree, R L; Rosenberg, B F

    1991-09-01

    Endorectal sonography initially was developed for evaluation of the prostate and now has been adapted for evaluation of rectal and perirectal disease. We used endorectal sonography to evaluate a spectrum of diseases, including primary and recurrent rectal carcinoma, metastases, villous adenoma, leiomyosarcoma, endometriosis, sacrococcygeal teratoma, chordoma, retroperitoneal cystic hamartoma, pelvic lipomatosis, diverticulitis, and perirectal abscess. The technique has been useful in localization of perirectal abscesses and in sonographically guided biopsy of perirectal masses. Knowledge of normal sonographic anatomy of the rectum is essential in the evaluation of rectal and perirectal disease. In this essay, we describe the technique of endorectal sonography and illustrate the sonographic findings in a variety of diseases.

  15. Prenatal Influences on the Brain.

    ERIC Educational Resources Information Center

    Eliot, Lise

    2002-01-01

    Gives an overview of embryology and prenatal brain, sensory, and motor development. Includes discussion of maternal nutrition, chemical exposure, prenatal drug and alcohol hazards, cigarette smoking, and some causes of neural tube defects and premature birth. (Author/KB)

  16. Prenatal Genetic Counseling (For Parents)

    MedlinePlus

    ... 5 Things to Know About Zika & Pregnancy Prenatal Genetic Counseling KidsHealth > For Parents > Prenatal Genetic Counseling Print ... how can they help your family? What Is Genetic Counseling? Genetic counseling is the process of: evaluating ...

  17. Your First Prenatal Care Checkup

    MedlinePlus

    ... Prenatal Providers project include HRSA, March of Dimes Foundation, National Coalition for Health Professional Education in Genetics, Genetic ... Prenatal Providers project include HRSA, March of Dimes Foundation, National Coalition for Health Professional Education in Genetics, Genetic ...

  18. Educating the future sonographic workforce: membership survey report from the British Medical Ultrasound Society.

    PubMed

    Parker, P C; Harrison, G

    2015-11-01

    The British Medical Ultrasound Society (BMUS), the Consortium for the Accreditation of Sonographic Education (CASE), education providers and the NHS are working together to review how best to develop education for the future sonographic workforce. There is currently a national vacancy rate of approximately 12% across NHS Trusts. Education course placements are often limited to the number of clinical training places available within departments, resulting in a disparity between vacancies and the numbers of qualified sonographers graduating. Clearly there is a need for education to match the service demand. A term often used as a solution to the workforce problem is 'direct entry' ultrasound education. Anecdotally this term has caused confusion amongst health care professionals and as such the aim of this work was to gain an understanding of the views and opinions of BMUS members and interested professionals about direct entry training and subsequent development of any future training programmes. BMUS undertook an online survey with 286 responses. The survey provided insight into the opinions of ultrasound practitioners and the complexities of developing a relevant educational programme for the future sonographer workforce. The results suggested a number of concerns with direct entry ultrasound programmes, including insufficient training places, lack of health care background knowledge, lack of imaging knowledge and no state registration specific to sonographers. Benefits of direct entry to ultrasound training were perceived to be increasing the number of sonographers trained each year, whilst training people in their first choice profession with skills developed specific to the sonographer role. Support for direct entry ultrasound training was limited to 51% of respondents who would advocate this form of ultrasound training if it led to qualified sonographers with the same skills as sonographers exiting from current CASE accredited programmes.

  19. Educating the future sonographic workforce: membership survey report from the British Medical Ultrasound Society.

    PubMed

    Parker, P C; Harrison, G

    2015-11-01

    The British Medical Ultrasound Society (BMUS), the Consortium for the Accreditation of Sonographic Education (CASE), education providers and the NHS are working together to review how best to develop education for the future sonographic workforce. There is currently a national vacancy rate of approximately 12% across NHS Trusts. Education course placements are often limited to the number of clinical training places available within departments, resulting in a disparity between vacancies and the numbers of qualified sonographers graduating. Clearly there is a need for education to match the service demand. A term often used as a solution to the workforce problem is 'direct entry' ultrasound education. Anecdotally this term has caused confusion amongst health care professionals and as such the aim of this work was to gain an understanding of the views and opinions of BMUS members and interested professionals about direct entry training and subsequent development of any future training programmes. BMUS undertook an online survey with 286 responses. The survey provided insight into the opinions of ultrasound practitioners and the complexities of developing a relevant educational programme for the future sonographer workforce. The results suggested a number of concerns with direct entry ultrasound programmes, including insufficient training places, lack of health care background knowledge, lack of imaging knowledge and no state registration specific to sonographers. Benefits of direct entry to ultrasound training were perceived to be increasing the number of sonographers trained each year, whilst training people in their first choice profession with skills developed specific to the sonographer role. Support for direct entry ultrasound training was limited to 51% of respondents who would advocate this form of ultrasound training if it led to qualified sonographers with the same skills as sonographers exiting from current CASE accredited programmes. PMID:27433263

  20. [Osteochondrodysplasias. Prenatal diagnosis and pathological-anatomic findings].

    PubMed

    Tennstedt, C; Bartho, S; Bollmann, R; Schwenke, A; Nitz, I; Rothe, K

    1993-03-01

    Prenatal sonographic investigations were applied for malformations to 7,194 foetuses, between October 1985 and April 1992, with 28 cases of osteochondrodysplasia (OCD) and one case of dysostosis being dissected. Included were 20 cases of lethal osteochondrodysplasia, among them two cases of lethal hypophosphatasia, five cases of thanatophoric dysplasia, one case each of Type II shortrib (polydactyly) syndrome (VERMA-NAUMOFF) and metatropic dysplasia, three cases of campomelic dysplasia and eight cases of Type II A imperfect osteogenesis. Also observed were eight cases of nonlethal OCD, among them three cases of diastrophic dysplasia and five of achondroplasia. Dysostosis was recorded from one case and was diagnosed as Type V acrocephalosyndactyly (Pfeiffer). Identification of a specific OCD proved to be difficult in the second or third trimenon. Hence, the form of OCD was prenatally diagnosed only in ten of all cases investigated. Tentative diagnosis was first established from the postmortem radiograph. Additional malformations and other abnormalities then were detected by complementary pathologico-anatomic processing of findings. The final diagnosis was derived from radiological, pathologico-anatomic and histological findings. Diagnosis of this constitutional osteopathy is quite difficult and calls for interdisciplinary cooperation between gynaecologists, neonatologists, paediatric surgeons, radiologists, geneticists and pathologists. More effective counselling of affected families is the major purpose of all the efforts involved. PMID:8499423

  1. Sonographic appearance of angioedema in local allergic reactions to insect bites and stings.

    PubMed

    Tay, Ee Tein; Tsung, James W

    2014-09-01

    Soft tissue infections and angioedema from insect bites and stings may be difficult to differentiate by inspection. We present sonographic findings of 4 cases of soft tissue swelling from insect bites and stings suggestive of angioedema. Sonographic features of soft tissue angioedema consist of thickened subcutaneous tissue layers with multiple linear, horizontal, striated, and hypoechoic lines following the tissue planes between soft tissue layers. In addition to the history and physical examination, sonographic findings may assist in differentiating between local allergic reactions and cellulitis in patients with insect bites and stings. Further study is warranted for clinical application.

  2. Human prenatal diagnosis

    SciTech Connect

    Filkins, K.; Russo, J.F.

    1985-01-01

    Advances in the field of prenatal diagnosis have been rapid during the past decade. Moreover, liberal use of birth control methods and restriction of family size have placed greater emphasis on optimum outcome of each pregnancy. There are many prenatal diagnostic techniques of proven value; the risks, including false negatives and false positives, are known. With the rapid proliferation of new and experimental techniques, many disorders are potential diagnosable or even treatable; however, risk factors are unknown and issues relating to quality control have not been resolved. These problems are readily appreciated in the dramatic new techniques involving recombinant DNA, chorion villus sampling, and fetal surgery. Unfortunately, clinicians may not appreciate the difficulties that may also be encountered in the more mundane prenatal diagnostic tests such as ultrasonography or enzymatic testing. The aim of this volume is to clarify and rationalize certain aspects of diagnosis, genetic counseling, and intervention. New and experimental techniques are presented in the light of current knowledge.

  3. [Reverse genetics and prenatal diagnosis].

    PubMed

    Plauchu, H

    1988-05-01

    "Reverse" genetics is a research process consisting in finding the gene of a disease, then in "descending" toward the final product that it codes. This reasoning is the reverse of the one normally used which "ascends from the protein to the gene" and can be applied to the discovery of the pathogenic mechanism of a disease. There are numerous spin-offs of this new type of approach for prenatal diagnosis (PND). Thus, the discovery of polymorphic tracers surrounding the gene enables an indirect PND in informative families. Reliability is great if we have many probes at our disposal. Then, discovery of the gene itself permits a direct PND with the use of intragenic probes and synthetic oligonucleotides.

  4. Axillary lymph nodes in breast cancer patients: sonographic evaluation.

    PubMed

    Pinheiro, Denise Joffily Pereira da Costa; Elias, Simone; Nazário, Afonso Celso Pinto

    2014-01-01

    Axillary staging of patients with early-stage breast cancer is essential in the treatment planning. Currently such staging is intraoperatively performed, but there is a tendency to seek a preoperative and less invasive technique to detect lymph node metastasis. Ultrasonography is widely utilized for this purpose, many times in association with fine-needle aspiration biopsy or core needle biopsy. However, the sonographic criteria for determining malignancy in axillary lymph nodes do not present significant predictive values, producing discrepant results in studies evaluating the sensitivity and specificity of this method. The present study was aimed at reviewing the literature approaching the utilization of ultrasonography in the axillary staging as well as the main morphological features of metastatic lymph nodes.

  5. Axillary lymph nodes in breast cancer patients: sonographic evaluation*

    PubMed Central

    Pinheiro, Denise Joffily Pereira da Costa; Elias, Simone; Nazário, Afonso Celso Pinto

    2014-01-01

    Axillary staging of patients with early-stage breast cancer is essential in the treatment planning. Currently such staging is intraoperatively performed, but there is a tendency to seek a preoperative and less invasive technique to detect lymph node metastasis. Ultrasonography is widely utilized for this purpose, many times in association with fine-needle aspiration biopsy or core needle biopsy. However, the sonographic criteria for determining malignancy in axillary lymph nodes do not present significant predictive values, producing discrepant results in studies evaluating the sensitivity and specificity of this method. The present study was aimed at reviewing the literature approaching the utilization of ultrasonography in the axillary staging as well as the main morphological features of metastatic lymph nodes. PMID:25741091

  6. Segmental testicular infarction: sonographic findings and pathologic correlation.

    PubMed

    Aquino, Michael; Nghiem, Hanh; Jafri, Syed Zafar; Schwartz, John; Malhotra, Rajwant; Amin, Mitual

    2013-02-01

    Segmental testicular infarction can mimic testicular carcinoma on sonography and can lead to unnecessary orchiectomy. This case series describes and correlates sonographic and histologic findings of 7 pathologically proven segmental testicular infarction cases. Segmental testicular infarction should be suspected on sonography when a geographic lesion with low or mixed echogenicity has absent or near-absent flow in a patient with scrotal pain. A hyperechoic rim and peripheral hyperemia correspond to interstitial hemorrhage and inflammatory changes. As an infarct evolves, it becomes more discrete and hypoechoic as ghost outlines replace seminiferous tubules. Follow-up or contrast-enhanced magnetic resonance imaging or sonography can increase diagnostic confidence in suspected cases and prevent unnecessary orchiectomy.

  7. Segmental testicular infarction: sonographic findings and pathologic correlation.

    PubMed

    Aquino, Michael; Nghiem, Hanh; Jafri, Syed Zafar; Schwartz, John; Malhotra, Rajwant; Amin, Mitual

    2013-02-01

    Segmental testicular infarction can mimic testicular carcinoma on sonography and can lead to unnecessary orchiectomy. This case series describes and correlates sonographic and histologic findings of 7 pathologically proven segmental testicular infarction cases. Segmental testicular infarction should be suspected on sonography when a geographic lesion with low or mixed echogenicity has absent or near-absent flow in a patient with scrotal pain. A hyperechoic rim and peripheral hyperemia correspond to interstitial hemorrhage and inflammatory changes. As an infarct evolves, it becomes more discrete and hypoechoic as ghost outlines replace seminiferous tubules. Follow-up or contrast-enhanced magnetic resonance imaging or sonography can increase diagnostic confidence in suspected cases and prevent unnecessary orchiectomy. PMID:23341396

  8. Prenatal Stress, Prematurity, and Asthma.

    PubMed

    Medsker, Brock; Forno, Erick; Simhan, Hyagriv; Celedón, Juan C

    2015-12-01

    Asthma is the most common chronic disease of childhood, affecting millions of children in the United States and worldwide. Prematurity is a risk factor for asthma, and certain ethnic or racial minorities such as Puerto Ricans and non-Hispanic blacks are disproportionately affected by both prematurity and asthma. In this review, we examine current evidence to support maternal psychosocial stress as a putative link between prematurity and asthma, while also focusing on disruption of the hypothalamic-pituitary-adrenal (HPA) axis and immune responses as potential underlying mechanisms for stress-induced "premature asthma." Prenatal stress may cause not only abnormalities in the HPA axis but also epigenetic changes in the fetal glucocorticoid receptor gene (NR3C1), leading to impaired glucocorticoid metabolism. Moreover, maternal stress can alter fetal cytokine balance, favoring TH2 (allergic) immune responses characteristic of atopic asthma: interleukin 6 (IL-6), which has been associated with premature labor, can promote TH2 responses by stimulating production of IL-4 and IL-13. Given a link among stress, prematurity, and asthma, future research should include birth cohorts aimed at confirming and better characterizing "premature asthma." If confirmed, clinical trials of prenatal maternal stress reduction would be warranted to reduce the burden of these common comorbidities. While awaiting the results of such studies, sound policies to prevent domestic and community violence (eg, from firearms) are justified, not only by public safety but also by growing evidence of detrimental effects of violence-induced stress on psychiatric and somatic health. PMID:26676148

  9. Prenatal Stress, Prematurity, and Asthma.

    PubMed

    Medsker, Brock; Forno, Erick; Simhan, Hyagriv; Celedón, Juan C

    2015-12-01

    Asthma is the most common chronic disease of childhood, affecting millions of children in the United States and worldwide. Prematurity is a risk factor for asthma, and certain ethnic or racial minorities such as Puerto Ricans and non-Hispanic blacks are disproportionately affected by both prematurity and asthma. In this review, we examine current evidence to support maternal psychosocial stress as a putative link between prematurity and asthma, while also focusing on disruption of the hypothalamic-pituitary-adrenal (HPA) axis and immune responses as potential underlying mechanisms for stress-induced "premature asthma." Prenatal stress may cause not only abnormalities in the HPA axis but also epigenetic changes in the fetal glucocorticoid receptor gene (NR3C1), leading to impaired glucocorticoid metabolism. Moreover, maternal stress can alter fetal cytokine balance, favoring TH2 (allergic) immune responses characteristic of atopic asthma: interleukin 6 (IL-6), which has been associated with premature labor, can promote TH2 responses by stimulating production of IL-4 and IL-13. Given a link among stress, prematurity, and asthma, future research should include birth cohorts aimed at confirming and better characterizing "premature asthma." If confirmed, clinical trials of prenatal maternal stress reduction would be warranted to reduce the burden of these common comorbidities. While awaiting the results of such studies, sound policies to prevent domestic and community violence (eg, from firearms) are justified, not only by public safety but also by growing evidence of detrimental effects of violence-induced stress on psychiatric and somatic health.

  10. No correlation between sonographic and electrophysiological parameters in carpal tunnel syndrome.

    PubMed

    Żyluk, A; Walaszek, I; Szlosser, Z

    2014-02-01

    A prospective study was carried out to investigate any correlation between electrophysiological and sonographic findings in patients with a clinical diagnosis of carpal tunnel syndrome. A total of 113 patients (113 wrists) in 90 women and 23 men, with a mean age of 60 years, underwent sonographic and electrophysiological examination. Fifty-five patients (48%) had mild, 43 (38%) moderate and 12 (11%) had severe conduction disturbances and three patients had normal conduction. Sonographic measurements showed a cross-sectional area of the median nerve of 9.9 mm(2) at the forearm and 17.8 mm(2) at the tunnel inlet. The mean anteroposterior diameter (height) of the nerve at the tunnel inlet was 2.7 mm, and the lowest height inside the tunnel was 1.8 mm. No correlation was found between sonographic and electrophysiological parameters.

  11. Prenatal Care Training.

    ERIC Educational Resources Information Center

    Hagen, Michael

    Described is the development and evaluation of a prenatal instructional program designed to prevent birth defects. It is explained that the program, composed of five slide tape units on such topics as nutrition and environmental factors, was field tested and found effective with 97 participants (pregnant high school students, nursing students, and…

  12. Prenatal diagnosis: whose right?

    PubMed

    Heyd, D

    1995-10-01

    The question who is the subject of the right to prenatal diagnosis may be answered in four ways: the parents, the child, society, or no one. This article investigates the philosophical issues involved in each of these answers, which touch upon the conditions of personal identity, the principle of privacy, the scope of social responsibility, and the debate about impersonalism in ethics.

  13. Correlation Between Sonographic and In Vivo Measurement of A1 Pulleys in Trigger Fingers.

    PubMed

    Spirig, Andres; Juon, Bettina; Banz, Yara; Rieben, Robert; Vögelin, Esther

    2016-07-01

    The thickness of 210 A1 pulleys of 21 male and female healthy volunteers in two different age groups (20-35 y and 50-70 y) were measured by ultrasound. In a second group, the thickness of 15 diseased A1 pulleys and 15 A1 pulleys of the corresponding other hand of 10 patients with the clinical diagnosis of trigger finger were measured by ultrasound. During open trigger finger release, a strip of A1 pulley was excised and immediately measured using an electronic caliper. The average pulley thickness of healthy volunteers was 0.43-0.47 mm, compared to 0.77-0.79 mm in patients with trigger finger. Based on the receiver operating characteristic (ROC) curve, a diagnostic cut-off value of the pulley thickness at 0.62 mm was defined in order to differ a trigger finger from a healthy finger (sensitivity and specificity of 85%). The correlation between sonographic and effective intra-operative measurements of pulley thickness was linear and very strong (Pearson coefficient 0.86-0.90). In order to distinguish between healthy and diseased A1 pulleys, 0.62 mm is a simple value to use, which can be applied regardless of age, sex, body mass index (BMI) and height in adults. PMID:27126241

  14. Prenatal programming: adverse cardiac programming by gestational testosterone excess.

    PubMed

    Vyas, Arpita K; Hoang, Vanessa; Padmanabhan, Vasantha; Gilbreath, Ebony; Mietelka, Kristy A

    2016-01-01

    Adverse events during the prenatal and early postnatal period of life are associated with development of cardiovascular disease in adulthood. Prenatal exposure to excess testosterone (T) in sheep induces adverse reproductive and metabolic programming leading to polycystic ovarian syndrome, insulin resistance and hypertension in the female offspring. We hypothesized that prenatal T excess disrupts insulin signaling in the cardiac left ventricle leading to adverse cardiac programming. Left ventricular tissues were obtained from 2-year-old female sheep treated prenatally with T or oil (control) from days 30-90 of gestation. Molecular markers of insulin signaling and cardiac hypertrophy were analyzed. Prenatal T excess increased the gene expression of molecular markers involved in insulin signaling and those associated with cardiac hypertrophy and stress including insulin receptor substrate-1 (IRS-1), phosphatidyl inositol-3 kinase (PI3K), Mammalian target of rapamycin complex 1 (mTORC1), nuclear factor of activated T cells -c3 (NFATc3), and brain natriuretic peptide (BNP) compared to controls. Furthermore, prenatal T excess increased the phosphorylation of PI3K, AKT and mTOR. Myocardial disarray (multifocal) and increase in cardiomyocyte diameter was evident on histological investigation in T-treated females. These findings support adverse left ventricular remodeling by prenatal T excess.

  15. Prenatal programming: adverse cardiac programming by gestational testosterone excess.

    PubMed

    Vyas, Arpita K; Hoang, Vanessa; Padmanabhan, Vasantha; Gilbreath, Ebony; Mietelka, Kristy A

    2016-01-01

    Adverse events during the prenatal and early postnatal period of life are associated with development of cardiovascular disease in adulthood. Prenatal exposure to excess testosterone (T) in sheep induces adverse reproductive and metabolic programming leading to polycystic ovarian syndrome, insulin resistance and hypertension in the female offspring. We hypothesized that prenatal T excess disrupts insulin signaling in the cardiac left ventricle leading to adverse cardiac programming. Left ventricular tissues were obtained from 2-year-old female sheep treated prenatally with T or oil (control) from days 30-90 of gestation. Molecular markers of insulin signaling and cardiac hypertrophy were analyzed. Prenatal T excess increased the gene expression of molecular markers involved in insulin signaling and those associated with cardiac hypertrophy and stress including insulin receptor substrate-1 (IRS-1), phosphatidyl inositol-3 kinase (PI3K), Mammalian target of rapamycin complex 1 (mTORC1), nuclear factor of activated T cells -c3 (NFATc3), and brain natriuretic peptide (BNP) compared to controls. Furthermore, prenatal T excess increased the phosphorylation of PI3K, AKT and mTOR. Myocardial disarray (multifocal) and increase in cardiomyocyte diameter was evident on histological investigation in T-treated females. These findings support adverse left ventricular remodeling by prenatal T excess. PMID:27328820

  16. Prenatal programming: adverse cardiac programming by gestational testosterone excess

    PubMed Central

    Vyas, Arpita K.; Hoang, Vanessa; Padmanabhan, Vasantha; Gilbreath, Ebony; Mietelka, Kristy A.

    2016-01-01

    Adverse events during the prenatal and early postnatal period of life are associated with development of cardiovascular disease in adulthood. Prenatal exposure to excess testosterone (T) in sheep induces adverse reproductive and metabolic programming leading to polycystic ovarian syndrome, insulin resistance and hypertension in the female offspring. We hypothesized that prenatal T excess disrupts insulin signaling in the cardiac left ventricle leading to adverse cardiac programming. Left ventricular tissues were obtained from 2-year-old female sheep treated prenatally with T or oil (control) from days 30–90 of gestation. Molecular markers of insulin signaling and cardiac hypertrophy were analyzed. Prenatal T excess increased the gene expression of molecular markers involved in insulin signaling and those associated with cardiac hypertrophy and stress including insulin receptor substrate-1 (IRS-1), phosphatidyl inositol-3 kinase (PI3K), Mammalian target of rapamycin complex 1 (mTORC1), nuclear factor of activated T cells –c3 (NFATc3), and brain natriuretic peptide (BNP) compared to controls. Furthermore, prenatal T excess increased the phosphorylation of PI3K, AKT and mTOR. Myocardial disarray (multifocal) and increase in cardiomyocyte diameter was evident on histological investigation in T-treated females. These findings support adverse left ventricular remodeling by prenatal T excess. PMID:27328820

  17. The Prenatal Care at School Program

    ERIC Educational Resources Information Center

    Griswold, Carol H.; Nasso, Jacqueline T.; Swider, Susan; Ellison, Brenda R.; Griswold, Daniel L.; Brooks, Marilyn

    2013-01-01

    School absenteeism and poor compliance with prenatal appointments are concerns for pregnant teens. The Prenatal Care at School (PAS) program is a new model of prenatal care involving local health care providers and school personnel to reduce the need for students to leave school for prenatal care. The program combines prenatal care and education…

  18. [Prenatal care in Latin America].

    PubMed

    Buekens, P; Hernández, P; Infante, C

    1990-01-01

    Available data on the coverage of prenatal care in Latin America were reviewed. In recent years, only Bolivia had a coverage of prenatal care of less than 50 per cent. More than 90 per cent of pregnant women received prenatal care in Chile, Cuba, the Dominican Republic, and Puerto Rico. Prenatal care increased between the 1970 and 1980 in the Dominican Republic, Ecuador, Guatemala, Honduras, Mexico, and Peru. The coverage of prenatal care decreased in Bolivia and Colombia. The mean number of visits increased in Cuba and Puerto Rico. The increase of prenatal care in Guatemala and Honduras is due to increased care by traditional birth attendants, compared to the role of health care institutions. We compared the more recent data on tetanus immunization of pregnant women to the more recent data on prenatal care. The rates of tetanus immunization are always lower than the rates of prenatal care attendance, except in Costa Rica. The rates of tetanus immunization was less than half as compared to the rates of prenatal care in Bolivia, Guatemala, and Peru. To improve the content of prenatal care should be an objective complementary to the increase of the number of attending women.

  19. Prenatal diagnosis of Wolf-Hirschhorn syndrome (4p-) in association with congenital hypospadias and foot deformity

    PubMed Central

    Aslan, Halil; Karaca, Nilay; Basaran, Seher; Ermis, Hayri; Ceylan, Yavuz

    2003-01-01

    Background Wolf-Hirschhorn syndrome is caused by distal deletion of the short arm of chromosome 4 (4p-). We report a case in which intrauterine growth restriction, hypospadias and foot deformity were detected by prenatal ultrasound examination at 29 weeks of gestation. Case Presentation A 31-year-old gravida 2 partus 1 woman was referred at 29 weeks' gestation with suspicion of intrauterine growth restriction. Sonographic examination revealed deformity of the right lower limb and undescended testes with an irregular distal penis. A cordocentesis was performed and chromosome analysis revealed a 46,XY,del(4)(p14) karyotype. Conclusion The prenatal detection of intrauterine growth restriction, hypospadias and foot deformity should lead doctors to suspect the presence of Wolf-Hirschhorn syndrome. PMID:12546710

  20. Prenatal Surgery: Helping Babies Before Birth

    MedlinePlus

    ... About Zika & Pregnancy Prenatal Surgery: Helping Babies Before Birth KidsHealth > For Parents > Prenatal Surgery: Helping Babies Before ... A Text Size Prenatal Surgery: Helping Babies Before Birth Operating on a baby before birth may seem ...

  1. Human prenatal diagnosis

    SciTech Connect

    Filkins, K.; Russo, R.J.

    1985-01-01

    The multiauthor text is written as a ''guide to rationalize and clarify certain aspects of diagnosis, general counseling and intervention'' for ''health professionals who provide care to pregnant women.'' The text is not aimed at the ultrasonographer but rather at the physicians who are clinically responsible for patient management. Chapters of relevance to radiologists include an overview of prenatal screening and counseling, diagnosis of neural tube defects, ultrasonographic (US) scanning of fetal disorders in the first and second trimesters of pregnancy, US scanning in the third trimester, multiple gestation and selective termination, fetal echo and Doppler studies, and fetal therapy. Also included are overviews of virtually all currently utilized prenatal diagnostic techniques including amniocentesis, fetal blood sampling, fetoscopy, recombinant DNA detection of hemoglobinopathies, chorionic villus sampling, embryoscopy, legal issues, and diagnosis of Mendelian disorders by DNA analysis.

  2. Prenatal diagnosis of colobomatous microphthalmos.

    PubMed

    Dar, Suhail A; Johal, Sheila C; Marino, Meghan J; Singh, Arun D

    2015-04-30

    Optic nerve coloboma and microphthalmos with colobomatous cyst are rare congenital anomalies that are difficult to detect on prenatal ultrasonography and magnetic resonance imaging. Only four cases of optic nerve coloboma and two cases of microphthalmos with colobomatous cyst have been detected on prenatal imaging. The authors report a case of a fetus initially suspected to have retinoblastoma of the right eye on prenatal ultrasonography who was later diagnosed as having microphthalmos on fetal magnetic resonance imaging. Following delivery, she was noted to have microphthalmos with colobomatous cyst of the right eye and optic nerve coloboma of the left eye. The authors also review the prenatal ocular imaging findings of the differential diagnosis.

  3. Lateral cervical sinus: specific sonographic findings in two pediatric cases.

    PubMed

    Hosokawa, Takahiro; Yamada, Yoshitake; Sato, Yumiko; Tanami, Yutaka; Amano, Hizuru; Fujiogi, Michimasa; Kawashima, Hiroshi; Oguma, Eiji

    2015-10-01

    A lateral cervical sinus, also known as a second pharyngeal or branchial cleft fistula/sinus, occurs when the second pharyngeal arch fails to grow caudally over the third and fourth arches, leaving remnants of the second branchial clefts in contact with the surface of the neck via a narrow canal. This type of sinus is detected on the lateral aspect of the neck directly anterior to the sternocleidomastoid muscle. We report two pediatric cases with lateral cervical sinus, and pathognomonic sonographic findings to confirm the diagnosis. The first case involved a 3-month-old boy with a sinus on the lateral neck and occasional drainage from a cervical sinus opening. Sonography revealed that the sinus tract extended between the external and internal carotid arteries. In case two, a 1-month-old girl presented with a sinus on the lateral neck and signs of acute infection at the site of a pinpoint opening. Sonography revealed an oval-shaped cystic lesion and sinus tract extending between the external and internal carotid arteries. Sonography does not require radiation or sedation for children. The best choice for the first examination for lateral cervical sinus is sonography, rather than CT, MRI, or contrast fistulograms. PMID:26576989

  4. Dependence of Thyroid Sonographic Markers of Malignancy and Its Influence on the Diagnostic Value of Sonographic Findings

    PubMed Central

    Woliński, Kosma; Stangierski, Adam; Szczepanek-Parulska, Ewelina; Gurgul, Edyta; Ruchała, Marek

    2015-01-01

    Introduction. Thyroid nodules constitute frequent medical condition. Ultrasonographic (US) examination remains the basis in the diagnostics of nodular goiter and selection of the suspected ones requiring fine-needle aspiration biopsy (FNAB). The aim of this study was to evaluate if the features so far considered to be US malignancy markers are dependent or independent variables and to check if these data are clinically relevant. Materials and Methods. Patients with diagnosed thyroid nodular goiter admitted for thyroidectomy, irrespectively of the indications for surgery, were involved. The following parameters were assessed: echogenicity, the presence of calcifications, presence of halo, shape, margins, structure (solid, partially or pure cystic), and elasticity of the nodules (assessed quantitatively). Results. 122 consecutive patients with 393 thyroid nodules were included. There were significant associations between halo absence and irregular borders, micro- and macrocalcifications, taller-than-wide feature and macrocalcifications, irregular margins and macrocalcifications, and also decreased elasticity of nodules and several attributes (partially cystic character, micro- and macrocalcifications). Conclusions. Not only diagnostic value of particular sonographic features but also data about cooccurrence and associations between them are clinically relevant. Although most of these features turned out to be independent, omitting significant association can lead to incorrect assessment of the risk of malignancy. PMID:25688363

  5. [Prenatal exposure to androgens as a factor of fetal programming].

    PubMed

    Recabarren, Sergio E; Sir-Petermann, Teresa; Maliqueo, Manuel; Lobos, Alejandro; Rojas-García, Pedro

    2006-01-01

    Both epidemiological and clinical evidence suggest a relationship between the prenatal environment and the risk of developing diseases during adulthood. The first observations about this relationship showed that prenatal growth retardation or stress conditions during fetal life were associated to cardiovascular, metabolic and other diseases in later life. However, not only those conditions may have lasting effects after birth. Growing evidence suggests that prenatal exposure to steroids (either of fetal or maternal origin) could be another source of prenatal programming with detrimental consequences during adulthood. We have recently demonstrated that pregnant women with polycystic ovary syndrome exhibit elevated androgen levels compared to normal pregnant women, which could provide an androgen excess for both female or male fetuses. We have further tested this hypothesis in an animal model of prenatal androgenization, finding that females born from androgenized mothers have a low birth weight and high insulin resistance, that starts at an early age. On the other hand, males have low testosterone and LH secretion in response to a GnRH analogue test compared to control males and alterations in seminal parameters. We therefore propose that our efforts should be directed to modify the hyperandrogenic intrauterine environment to reduce the potential development of reproductive and metabolic diseases during adulthood.

  6. [Prenatal diagnosis of thanatophoric dwarfism].

    PubMed

    Gerihäuser, H; Schuster, C; Immervoll, H; Sochor, G

    1992-02-01

    Thanatophoric dwarfism is a rare malformation, occurring in less than 1:10,000 pregnancies. It can be discovered by standard ultrasound examination, but other skeletal dysplasias such as achondroplasia, achondrogenesis and polydactyly syndromes must be taken into consideration. Sonographic findings are polyhydramnia, narrow chest, symmetric tetramicromelia and macrocephaly. Macrocephaly might cause a problem for vaginal delivery. The narrow chest with secondary lung hypoplasia determines the infaust prognosis. PMID:1585160

  7. Appendiceal phlegmon mimicking intussusception on ultrasound: correspondence between sonographic and operative findings.

    PubMed

    Mentessidou, Anastasia; Mirilas, Petros

    2015-07-01

    Little is known about the possibility that ruptured appendicitis may produce a false sonographic appearance of intussusception. We present here a case of a periappendiceal phlegmon mimicking ileocolic intussusception on ultrasound in a 3.5-year-old girl and provide a surgico-anatomic explanation on the basis of the intraoperative findings for the false sonographic image. CT imaging was used to make the diagnosis. Intraoperatively, it was revealed that the cecum and sigmoid, which were adherent to each other with pseudomembranes, formed an intestinal mass around the appendix. Accordingly, the appendicolith at the center of the phlegmon was responsible for the central echogenicity, and the surrounding cecum and sigmoid for the external hypoechoic and hyperechoic rings of the target-sign appearing mass on the preoperative ultrasound. Such an understanding of the etiology of the false sonographic image may help to increase awareness and avoid misdiagnosis.

  8. Three-dimensional sonographic imaging of the equine superficial digital flexor tendon.

    PubMed

    Wood, A K; Sehgal, C M; Reef, V B

    1994-11-01

    In a feasability study, a technique for constructing 3-dimensional sonographic images of the superficial digital flexor tendon (SDFT) was established in 6 clinically normal horses and applied to 7 horses with injured SDFT. Two-dimensional B-mode sonographic images were recorded on videotape as the sonographic transducer was manually moved along the palmar aspect of the metacarpal region. Selected videofields were digitized, and 3-dimensional images were constructed, using a computer work station and dedicated software program. The 3-dimensional images were of high quality and presented qualitative clinical information in unique fashion. Indication of the extent of SDFT injuries was excellent. Such 3-dimensional images would be especially useful in explaining to owners and trainers the importance of the injury to their horse and would have a role in monitoring tendon healing and in the assessment of various treatments.

  9. Ethics of prenatal ultrasound.

    PubMed

    Howe, David

    2014-04-01

    Prenatal ultrasound has opened new opportunities to examine, diagnose and treat the fetus, but these advances bring with them ethical dilemmas. In this chapter, I address the ethical principles that need to be considered when treating both mother and fetus as patients, and how these can be applied in practice. In particular, ultrasound practitioners have an ethical duty to maintain their theoretical knowledge and practical skills to ensure they advise parents correctly. I also discuss the ethical issues in carrying out intrauterine therapy, ultrasound-related research, and termination of pregnancy for fetal abnormality.

  10. Sonographic evaluation of fetal cerebral structures correlated with histological aspects.

    PubMed

    Comănescu, Alexandru Cristian; Cernea, Nicolae; Tica, Oana Sorina; Comănescu, Maria Victoria; Niculescu, Elena Carmen; Florou, Charoula; Grosu, Florin

    2015-01-01

    Prenatal development of the human brain from undifferentiated neuroepithelium, crosses numerous steps towards primordial organization and subsequent cytoarchitectural layering, ascending and progressive from the lower cortical layers to the superior ones. Our study represents a systematic, comparative assessment of imaging studies and the histological evaluation of the prenatal development of the human brain. We evaluated 232 cases using 3D ultrasound. Histological study was performed on 17 cases aged between 8 and 32 weeks pregnancy and compared with imaging results. For the ultrasound study, we chose five anatomical landmarks: the choroid plexus, thalamus, cerebellum, hippocampus and island (Sylvian fissure). The histological study was performed on dissected brain specimens preserved in formaldehyde and was followed by immunohistochemical determination in order to complete the picture of the morphological evolution of the structures evaluated. We analyzed the accuracy of the description of marker elements (choroid plexus, thalamus, cerebellum, hippocampus and Sylvian fissure) in three-dimensional ultrasound evaluation. This showed a good correlation with the morphological evaluation as well as with the dimensional descriptions from the literature. Histological and immunohistochemical assessment helped complete the picture of the central nervous system development. Highlighting fetal cerebral structures by three-dimensional ultrasound, together with morphological examination helped us create a dynamic array of the central nervous system development.

  11. Sonographically-Guided Hydrodissection and Corticosteroid Injection for Scleroderma Hand

    PubMed Central

    DeLea, Suzanne L.; Chavez-Chiang, Natalia R.; Poole, Janet L.; Norton, Hillary E.; Sibbitt, Wilmer L.; Bankhurst, Arthur D.

    2013-01-01

    Objective Scleroderma is associated with intractable hand pain from vasospasm, digital ischemia, tenosynovitis, and nerve entrapment. This study investigated the effect of hydrodissection of the carpal tunnel followed by corticosteroid injection for the painful scleroderma hand. Methods 26 consecutive subjects (12 with painful scleroderma hand and 14 with rheumatoid arthritis and carpal tunnel syndrome (RA/CTS) underwent sonographically-observed carpal tunnel hydrodissection with 3 mls of 1% lidocaine administered with a 25 gauge 1 inch needle on a 3 ml RPD mechanical syringe (reciprocating procedure device). After hydrodissection a syringe exchange was performed and 80 mg of triamcinolone acetonide was injected. Baseline pain, procedural pain, pain at outcome, responders, therapeutic duration, and reinjection interval were determined. Results Hydrodissection and injection with corticosteroid significantly reduced pain scores by 67% in scleroderma (p<0.001) and by 47% in RA/CT (p <0.001). Scleroderma and RA/CTS were similar in outcome measures: injection pain (p=0.47), pain scores at outcome (p = 0.13), responders (Scleroderma: 83.3%, RA/CTS: 57.1%, p = 0.15), pain at 6 months (p =0.15), and therapeutic duration (p=0.07). Scleroderma patients responded better in time to next injection (Scleroderma: 8.5±3.0 months; RA/CTS: 5.2±3.1 months, p = 0.03). Reduced Raynaud’s attacks and healing of digital ulcers occurred in 83% of subjects. There were no complications. Conclusion Hydrodissection with lidocaine followed by injection of triamcinolone reduces pain and vasomotor changes in the scleroderma hand. The mechanism may be a combination of hydrodissection-mediated mechanical freeing of entrapped arteries, nerves, and tendinous structures and corticosteroid-induced reduction of inflammatory vasospasm. PMID:21234632

  12. Prenatal vitamins: what is in the bottle?

    PubMed

    Duerbeck, Norman B; Dowling, David D; Duerbeck, Jillinda M

    2014-12-01

    Nearly all obstetricians routinely prescribe prenatal vitamins to their pregnant patients at the time of the first prenatal visit. Many times, patients' understanding of the health benefits of prenatal vitamins differs substantially from that of the prescribing physician. The following is a review of the most common ingredients found in prenatal vitamins and their purported health benefits.

  13. Spontaneous Shrinkage of a Suprasellar Arachnoid Cyst Diagnosed with Prenatal Sonography and Fetal Magnetic Resonance Imaging: Case Report and Review of the Literature.

    PubMed

    Goksu, Ethem; Kazan, Saim

    2015-01-01

    Arachnoid cysts (AC's) are congenital anomalies that occur within the cerebrospinal fluid (CSF) cisterns and major cerebral fissures. Suprasellar AC's comprise 5-12.5% of all the lesions. Despite being commonly reported, their etiology and pathogenesis still remain unclear. In this report, we presented an unusual case of spontaneous shrinkage of a suprasellar AC that had been incidentally diagnosed during a routine prenatal sonographic examination. To our knowledge, only three cases of spontaneous shrinkage of suprasellar AC have been reported in the literature. In detail of the manuscript, fetal and postnatal radiological images were presented and the possible mechanisms were discussed with a review of the literature. PMID:26242350

  14. Sonographic diagnosis of a viable abdominal pregnancy with planned delivery after fetal lung maturation.

    PubMed

    Kim, Mi Ju; Bae, Jin Young; Seong, Won Joon; Lee, Yoon Soon

    2013-01-01

    We report a case of a viable abdominal pregnancy with successful outpatient management until fetal lung maturation and planned delivery. Advanced abdominal pregnancy is a very rare extrauterine pregnancy, which results in serious maternal and fetal morbidity. A 28-year-old nullipara was referred from the local clinic to our tertiary center at 18 weeks' gestation. We diagnosed an extrauterine fetus on sonographic examination. The patient had weekly antenatal sonographic examinations. We performed a planned laparotomy at 34 weeks' gestation, and a female baby weighing 2,100 g was delivered. The placenta was completely removed and the uterus was preserved. Both the mother and the baby had no postoperative morbidity.

  15. Prenatal nutrition: special considerations.

    PubMed

    Cox, J T; Phelan, S T

    2009-10-01

    Awareness of the importance of nutrition during pregnancy has increased in recent years.Pregnancy outcomes vary by prepregnant weight as well as gestational weight gain. Inappropriate gain may have both short- and long-term consequences for mother and infant. This review article includes the newly released US Institute of Medicine prenatal weight gain guidelines, as well as the Dietary Reference Intakes for the US and selected European societies.Food safety topics are discussed including Listeria, Toxoplasma, peanuts, mercury and other contaminants. Preconceptual nutrition is discussed, as are specific at-risk prenatal nutrients, including folic acid, choline, vitamin B12, omega-3 fatty acids, iodine, calcium, vitamin D, and iron. Current controversies are discussed and practical suggestions are given to safely optimize nutrient intake. As part of the medical team, a local Registered Dietitian or other nutrition professional can give much more detailed guidance and support for a pregnant woman given her particular risk factors, including her pre-existing medical conditions and cultural concerns, and will emphasize nutritional quality rather than just pounds gained. PMID:19749670

  16. Sonographic Evaluation and Sonographic-Guided Therapeutic Options of Lateral Ankle Pain: Peroneal Tendon Pathology Associated with the Presence of an Os Peroneum

    PubMed Central

    Adler, Ronald S.; Saboeiro, Gregory R.; Pavlov, Helene

    2010-01-01

    Clinical implications of acute injuries of the os peroneum have been described, with the recommendation in some cases being the excision of the bone fragments. We describe the spectrum of sonographic appearances associated with pain in the region of the os peroneum, document associated peroneal tendon pathology, and describe the use of sonography to direct and guide therapeutic and/or diagnostic injections. All sonographic examinations in our ultrasound database from Jan 1, 2001–Jan 30, 2007 with the words “os peroneum” were reviewed. Patients were cross-referenced in our radiology database to find relevant foot or ankle radiographs for correlation. There were 47 patients (18 men and 29 women, age range 16 to 83) referred for sonographic evaluation of lateral foot and/or ankle pain who had an os peroneum identified during the sonographic evaluation. Eighteen patients were referred specifically for targeted injection of the lateral ankle, including peroneal tendon sheath injections (N = 10), calcaneocuboid joint injections (N = 1), and injections around symptomatic os peroneum (N = 7). All 47 patients had tendinosis of the peroneus longus, in varying degrees of severity. Radiographs were available for correlation in 28 patients. The causes of lateral ankle pain with a co-existent os peroneum are multifactorial and may not directly relate to the presence of an os peroneum. Ultrasound can be of value in separating out the specific etiology for pain, as well as provide a method for problem solving by the performance of targeted diagnostic or therapeutic injections in the lateral ankle. PMID:21886533

  17. Eugenics and prenatal testing.

    PubMed

    Hubbard, R

    1986-01-01

    Prejudices against people with disabilities, poor people, and immigrants during the nineteenth century generated a science of "race improvement" called eugenics. In the United States, a number of eugenic measures were enacted early in this century, but it was in Nazi Germany that eugenics flourished under the name of racial hygiene (Rassenhygiene). In the guise of furthering the health of the German people, German scientists and physicians initially designed programs of sterilization. Next came euthanasia and finally mass extermination of "lives not worth living." Remembering this history, many German women oppose the new technical developments in prenatal diagnosis because they see them as yet another way to specify what kinds of people are and are not fit to inhabit the world. This paper tries to place the new technologies in the context of eugenics and to point out some of the ways in which the new, supposedly liberating, choices in fact limit women's control over our lives.

  18. Prenatal features of Pena-Shokeir sequence with atypical response to acoustic stimulation.

    PubMed

    Pittyanont, Sirida; Jatavan, Phudit; Suwansirikul, Songkiat; Tongsong, Theera

    2016-09-01

    A fetal sonographic screening examination performed at 23 weeks showed polyhydramnios, micrognathia, fixed postures of all long bones, but no movement and no breathing. The fetus showed fetal heart rate acceleration but no movement when acoustic stimulation was applied with artificial larynx. All these findings persisted on serial examinations. The neonate was stillborn at 37 weeks and a final diagnosis of Pena-Shokeir sequence was made. In addition to typical sonographic features of Pena-Shokeir sequence, fetal heart rate accelerations with no movement in response to acoustic stimulation suggests that peripheral myopathy may possibly play an important role in the pathogenesis of the disease. © 2016 Wiley Periodicals, Inc. J Clin Ultrasound 44:459-462, 2016. PMID:27312123

  19. Urethral length measurement in women during sonographic urethrocystography – an analysis of repeatability and reproducibility

    PubMed Central

    Kociszewski, Jacek; Suzin, Jacek; Dresler, Maria; Surkont, Grzegorz

    2016-01-01

    There has been a rise in the use of sonographic urethrocystography in patients with a full bladder. So far, no publications have been made on the analysis of repeatability and reproducibility of the measurements performed during this procedure. Aim An assessment of repeatability and reproducibility of urethral length measurements during sonographic urethrocystography in females with a full bladder in the introital approach, using real-time two-dimensional transvaginal ultrasound. Material and methods The ultrasound was performed in accordance with a standardized technique in female patients with a full bladder containing 200–300 mL of liquid. A total of 92 patients were included in the analysis. Results The Intraclass Correlation Coefficient for repeatability and reproducibility of urethral length measurements in sonographic urethrocystography ranged between 0.9217 and 0.9873 (p = 0.0000). The analysis of ultrasound urethral length measurements taken by two different physicians at an interval of several months confirmed their very high compatibility (ICC = 0.81, p = 0.000). Conclusions Very good repeatability and reproducibility of urethral length findings during sonographic urethrocystography performed in accordance with the presented technique support the possible use of this type of examination in both clinical practice and research. PMID:27104000

  20. Prenatal diagnosis of colobomatous microphthalmos.

    PubMed

    Dar, Suhail A; Johal, Sheila C; Marino, Meghan J; Singh, Arun D

    2015-01-01

    Optic nerve coloboma and microphthalmos with colobomatous cyst are rare congenital anomalies that are difficult to detect on prenatal ultrasonography and magnetic resonance imaging. Only four cases of optic nerve coloboma and two cases of microphthalmos with colobomatous cyst have been detected on prenatal imaging. The authors report a case of a fetus initially suspected to have retinoblastoma of the right eye on prenatal ultrasonography who was later diagnosed as having microphthalmos on fetal magnetic resonance imaging. Following delivery, she was noted to have microphthalmos with colobomatous cyst of the right eye and optic nerve coloboma of the left eye. The authors also review the prenatal ocular imaging findings of the differential diagnosis. PMID:25942066

  1. Prenatal meditation influences infant behaviors.

    PubMed

    Chan, Ka Po

    2014-11-01

    Meditation is important in facilitating health. Pregnancy health has been shown to have significant consequences for infant behaviors. In view of limited studies on meditation and infant temperament, this study aims to explore the effects of prenatal meditation on these aspects. The conceptual framework was based on the postulation of positive relationships between prenatal meditation and infant health. A randomized control quantitative study was carried out at Obstetric Unit, Queen Elizabeth Hospital in Hong Kong. 64 pregnant Chinese women were recruited for intervention and 59 were for control. Outcome measures were cord blood cortisol, infant salivary cortisol, and Carey Infant Temperament Questionnaire. Cord blood cortisol level of babies was higher in the intervention group (p<0.01) indicates positive health status of the newborns verifies that prenatal meditation can influence fetal health. Carey Infant Temperament Questionnaire showed that the infants of intervention group have better temperament (p<0.05) at fifth month reflects the importance of prenatal meditation in relation to child health. Present study concludes the positive effects of prenatal meditation on infant behaviors and recommends that pregnancy care providers should provide prenatal meditation to pregnant women.

  2. Prenatal Depression Restricts Fetal Growth

    PubMed Central

    Diego, Miguel A.; Field, Tiffany; Hernandez-Reif, Maria; Schanberg, Saul; Kuhn, Cynthia; Gonzalez-Quintero, Victor Hugo

    2009-01-01

    Objective To identify whether prenatal depression is a risk factor for fetal growth restriction. Methods Midgestation (18-20 weeks GA) estimated fetal weight and urine cortisol and birth weight and gestational age at birth data were collected on a sample of 40 depressed and 40 non-depressed women. Estimated fetal weight and birthweight data were then used to compute fetal growth rates. Results Depressed women had a 13% greater incidence of premature delivery (Odds Ratio (OR) = 2.61) and 15% greater incidence of low birthweight (OR = 4.75) than non-depressed women. Depressed women also had elevated prenatal cortisol levels (p = .006) and fetuses who were smaller (p = .001) and who showed slower fetal growth rates (p = .011) and lower birthweights (p = .008). Mediation analyses further revealed that prenatal maternal cortisol levels were a potential mediator for the relationship between maternal symptoms of depression and both gestational age at birth and the rate of fetal growth. After controlling for maternal demographic variables, prenatal maternal cortisol levels were associated with 30% of the variance in gestational age at birth and 14% of the variance in the rate of fetal growth. Conclusion Prenatal depression was associated with adverse perinatal outcomes, including premature delivery and slower fetal growth rates. Prenatal maternal cortisol levels appear to play a role in mediating these outcomes. PMID:18723301

  3. Fractalkine Attenuates Microglial Cell Activation Induced by Prenatal Stress

    PubMed Central

    Ślusarczyk, Joanna; Trojan, Ewa; Głombik, Katarzyna; Chamera, Katarzyna; Roman, Adam; Budziszewska, Bogusława; Basta-Kaim, Agnieszka

    2016-01-01

    The potential contribution of inflammation to the development of neuropsychiatric diseases has recently received substantial attention. In the brain, the main immune cells are the microglia. As they are the main source of inflammatory factors, it is plausible that the regulation of their activation may be a potential therapeutic target. Fractalkine (CX3CL1) and its receptor CX3CR1 play a crucial role in the control of the biological activity of the microglia. In the present study, using microglial cultures we investigated whether fractalkine is able to reverse changes in microglia caused by a prenatal stress procedure. Our study found that the microglia do not express fractalkine. Prenatal stress decreases the expression of the fractalkine receptor, which in turn is enhanced by the administration of exogenous fractalkine. Moreover, treatment with fractalkine diminishes the prenatal stress-induced overproduction of proinflammatory factors such as IL-1β, IL-18, IL-6, TNF-α, CCL2, or NO in the microglial cells derived from prenatally stressed newborns. In conclusion, the present results revealed that the pathological activation of microglia in prenatally stressed newborns may be attenuated by fractalkine administration. Therefore, understanding of the role of the CX3CL1-CX3CR1 system may help to elucidate the mechanisms underlying the neuron-microglia interaction and its role in pathological conditions in the brain. PMID:27239349

  4. Prenatal triclosan exposure and cord blood immune system biomarkers.

    PubMed

    Ashley-Martin, Jillian; Dodds, Linda; Arbuckle, Tye E; Marshall, Jean

    2016-07-01

    Triclosan is widely used as an antimicrobial agent and preservative that has been hypothesized to play a role in asthma and allergic disease. The limited body of literature regarding the allergenicity of triclosan has not evaluated prenatal exposure and subsequent potential effects on the developing immune system. The objective of the present study was to determine the association between prenatal urinary triclosan concentrations and cord blood immune system biomarker concentrations. Umbilical cord blood samples were obtained from the Maternal-Infant Research on Environmental Chemicals (MIREC) Biobank and were tested for three immune system biomarkers: immunoglobulin E (IgE), thymic stromal lymphopoietin (TSLP), and interleukin-33 (IL-33). Triclosan concentrations were measured in urine at 6-13 weeks gestation. No statistically significant associations were observed between prenatal triclosan concentrations and elevated concentrations of any immune system biomarker (n=1219 participants). Longitudinal studies are necessary to determine how the observed findings at birth translate into childhood.

  5. Cardiac size during prenatal development.

    PubMed

    Jordaan, H V

    1987-06-01

    In this study, the cardiac circumference as measured in a four-chamber view was analyzed to determine its relationship to three linear, sonar measurements--biparietal diameter, femoral length, and abdominal circumference--and two sonographically derived fetal parameters--gestational age and estimated fetal weight. The results showed that the cardiac circumference correlates significantly with these direct and derived variables. It is recommended that the magnitude of the cardiac circumference as a function of any or all of these variables be used as an index of organ size when assessing fetuses at risk for anomalous cardiac development.

  6. Presence of an epigenetic signature of prenatal cigarette smoke exposure in childhood.

    PubMed

    Ladd-Acosta, Christine; Shu, Chang; Lee, Brian K; Gidaya, Nicole; Singer, Alison; Schieve, Laura A; Schendel, Diana E; Jones, Nicole; Daniels, Julie L; Windham, Gayle C; Newschaffer, Craig J; Croen, Lisa A; Feinberg, Andrew P; Daniele Fallin, M

    2016-01-01

    Prenatal exposure to tobacco smoke has lifelong health consequences. Epigenetic signatures such as differences in DNA methylation (DNAm) may be a biomarker of exposure and, further, might have functional significance for how in utero tobacco exposure may influence disease risk. Differences in infant DNAm associated with maternal smoking during pregnancy have been identified. Here we assessed whether these infant DNAm patterns are detectible in early childhood, whether they are specific to smoking, and whether childhood DNAm can classify prenatal smoke exposure status. Using the Infinium 450K array, we measured methylation at 26 CpG loci that were previously associated with prenatal smoking in infant cord blood from 572 children, aged 3-5, with differing prenatal exposure to cigarette smoke in the Study to Explore Early Development (SEED). Striking concordance was found between the pattern of prenatal smoking associated DNAm among preschool aged children in SEED and those observed at birth in other studies. These DNAm changes appear to be tobacco-specific. Support vector machine classification models and 10-fold cross-validation were applied to show classification accuracy for childhood DNAm at these 26 sites as a biomarker of prenatal smoking exposure. Classification models showed prenatal exposure to smoking can be assigned with 81% accuracy using childhood DNAm patterns at these 26 loci. These findings support the potential for blood-derived DNAm measurements to serve as biomarkers for prenatal exposure.

  7. The next generation of disease risk: are the effects of prenatal nutrition transmitted across generations? Evidence from animal and human studies.

    PubMed

    Roseboom, T J; Watson, E D

    2012-11-01

    Suboptimal intrauterine conditions, including poor nutrition, during critical periods of growth may lead to lifelong changes in the body's organs and tissues, thus providing a physiological basis for adult-onset disease. Remarkably, recent evidence suggests that the long-term consequences of adverse conditions during early development may not be limited to one generation, but may lead to poor health in the generations to follow, even if these individuals develop in normal conditions themselves. For example, the diet of a pregnant mother may affect the development and disease risk of her children and even her grandchildren. There is limited evidence for this in humans since studies of multiple generations are difficult to maintain. However, recent animal models have been generated to investigate this phenomenon and will be instrumental in the future for assessing the underlying mechanisms of intergenerational and transgenerational transmission of disease. These mechanisms remain unclear, though environmental, metabolic and epigenetic factors are likely involved. Researchers have begun to address how changes in metabolism and epigenetic regulation of gene expression caused by poor nutrition can be passed from one generation to the next. Ultimately, these findings will shed light on the transmission of diabetes, obesity and cardiovascular disease that are rapidly expanding in Western countries. Public health strategies that focus on improved maternal nutrition may provide a means of promoting cardiovascular and metabolic health. However, the full impact of these strategies may not be apparent for decades.

  8. Prenatal exercise research.

    PubMed

    Field, Tiffany

    2012-06-01

    In this review of recent research on prenatal exercise, studies from several different countries suggest that only approximately 40% of pregnant women exercise, even though about 92% are encouraged by their physicians to exercise, albeit with some 69% of the women being advised to limit their exercise. A moderate exercise regime reputedly increases infant birthweight to within the normal range, but only if exercise is decreased in late pregnancy. Lower intensity exercise such as water aerobics has decreased low back pain more than land-based physical exercise. Heart rate and blood pressure have been lower following yoga than walking, and complications like pregnancy-induced hypertension with associated intrauterine growth retardation and prematurity have been less frequent following yoga. No studies could be found on tai chi with pregnant women even though balance and the risk of falling are great concerns during pregnancy, and tai chi is one of the most effective forms of exercise for balance. Potential underlying mechanisms for exercise effects are that stimulating pressure receptors during exercise increases vagal activity which, in turn, decreases cortisol, increases serotonin and decreases substance P, leading to decreased pain. Decreased cortisol is particularly important inasmuch as cortisol negatively affects immune function and is a significant predictor of prematurity. Larger, more controlled trials are needed before recommendations can be made about the type and amount of pregnancy exercise.

  9. Prenatal exercise research.

    PubMed

    Field, Tiffany

    2012-06-01

    In this review of recent research on prenatal exercise, studies from several different countries suggest that only approximately 40% of pregnant women exercise, even though about 92% are encouraged by their physicians to exercise, albeit with some 69% of the women being advised to limit their exercise. A moderate exercise regime reputedly increases infant birthweight to within the normal range, but only if exercise is decreased in late pregnancy. Lower intensity exercise such as water aerobics has decreased low back pain more than land-based physical exercise. Heart rate and blood pressure have been lower following yoga than walking, and complications like pregnancy-induced hypertension with associated intrauterine growth retardation and prematurity have been less frequent following yoga. No studies could be found on tai chi with pregnant women even though balance and the risk of falling are great concerns during pregnancy, and tai chi is one of the most effective forms of exercise for balance. Potential underlying mechanisms for exercise effects are that stimulating pressure receptors during exercise increases vagal activity which, in turn, decreases cortisol, increases serotonin and decreases substance P, leading to decreased pain. Decreased cortisol is particularly important inasmuch as cortisol negatively affects immune function and is a significant predictor of prematurity. Larger, more controlled trials are needed before recommendations can be made about the type and amount of pregnancy exercise. PMID:22721740

  10. Genetic counseling and prenatal diagnosis (image)

    MedlinePlus

    Genetic counseling (and prenatal diagnosis) provides parents with the knowledge to make intelligent, informed decisions regarding possible pregnancy and its outcome. If a pregnancy occurs the couple may want to evaluate the fetus by prenatal diagnosis.

  11. Prenatal diagnosis of congenital myopathies and muscular dystrophies.

    PubMed

    Massalska, D; Zimowski, J G; Bijok, J; Kucińska-Chahwan, A; Łusakowska, A; Jakiel, G; Roszkowski, T

    2016-09-01

    Congenital myopathies and muscular dystrophies constitute a genetically and phenotypically heterogeneous group of rare inherited diseases characterized by muscle weakness and atrophy, motor delay and respiratory insufficiency. To date, curative care is not available for these diseases, which may severely affect both life-span and quality of life. We discuss prenatal diagnosis and genetic counseling for families at risk, as well as diagnostic possibilities in sporadic cases. PMID:27197572

  12. Subclinical carotid atherosclerosis in elderly patients with primary Sjögren syndrome: a duplex Doppler sonographic study.

    PubMed

    Zardi, E M; Sambataro, G; Basta, F; Margiotta, D P E; Afeltra, A M V

    2014-01-01

    A growing body of evidence presents a link between chronic inflammatory rheumatic diseases and atherosclerosis. To evaluate subclinical carotid atherosclerosis in an elderly group of patients with primary Sjögren syndrome compared with a control group matched for age, sex, ethnicity and cardiovascular risk factors, we enrolled 18 patients with Primary Sjögren Syndrome (mean age 65 ± 5.93 SD) and 18 mild Ostheoarthritic patients (mean age 66 ± 5.94 SD) from the outpatient department of Rheumatology, University “Campus Bio-Medico, Rome, Italy, matched for age, sex, ethnicity and cardiovascular risk factors. A duplex Doppler sonographic study of carotids was performed in order to evaluate intima-media thickness (IMT), stiffness and haemodynamic parameters [resistivity and pulsatility indices (RI and PI, respectively)]. No significant difference was found between primary Sjögren syndrome and control patients in IMT, stiffness and haemodynamic parameters. The lack of significant difference in subclinical atherosclerosis between elderly primary Sjögren syndrome and control matched patients, indicates that traditional cardiovascular risk factors, immunologic alterations and chronic inflammation do not influence the progression of vascular damage in the carotid circulation of patients with median disease duration of 6.5 years.

  13. Difficult prenatal diagnosis: fetal coarctation

    PubMed Central

    Buyens, A.; Gyselaers, W.; Coumans, A.; Al Nasiry, S.; Willekes, C.; Boshoff, D.; Frijns, J.-P.; Witters, I.

    2012-01-01

    The prenatal diagnosis of fetal coarctation is still challenging. It is mainly suspected by ventricular disproportion (smaller left ventricle than right ventricle). The sensitivity of ventricular discrepancy is however moderate for the diagnosis of coarctation and there is a high false positive rate. Prenatal diagnosis of coarctation is important because the delivery can be arranged in a centre with a pediatric cardiac intensive careand this reduces postnatal complications and longterm morbidity. For many years the prenatal diagnosis of coarctation has been investigated to improve specificity and sensitivity by several of measurements. This article reviews all relevant articles from 2000 until 2011 searching pubmed and the reference list of interesting articles. An overview of specific measurements and techniques that can improve the diagnosis of coarctation has been made, such as the isthmus diameter, ductal diameter, isthmus/ductal ratio, z-scores derived from measurements of the distal aortic isthmus and arterial duct, the presence of a shelf andisthmal flow disturbance. Also 3-dimensional (3D) and 4-dimensional (4D) imaging with or without STIC has been suggested to be used as newer techniques to improve diagnosis of coarctation in fetal life. Although more methods regarding prenatal diagnosis of coarctationare being investigated, the ultrasound specialist remains challenged to correctly diagnose this cardiac anomaly in prenatal life. PMID:24753914

  14. Hemifacial microsomia with spinal and rib anomalies: prenatal diagnosis and postmortem confirmation using 3-D computed tomography reconstruction.

    PubMed

    Haratz, Karina; Vinkler, Chana; Lev, Dorit; Schreiber, Letizia; Malinger, Gustavo

    2011-01-01

    Hemifacial microsomia (OMIM164210) is a condition featuring unilateral ear anomalies and ocular epibulbar dermoids associated with unilateral underdevelopment of the craniofacial bony structures. Other associated anomalies have also been described, especially spinal malformations, and the term oculoauriculovertebral dysplasia spectrum (OVAS) was suggested to include the three predominant systems involved. Both genetic and environmental causes are implied in the pathogenesis of the syndrome, with a 3% recurrence rate according to reports of both vertical transmission and affected siblings. No specific gene was identified, albeit mutations in chromosome 10 and deficiencies of genes in the endothelin pathway in mice exhibited the same clinical features. We hereby describe the first case of prenatal diagnosis of spinal and rib malformations associated to hemifacial microsomia by means of 2-D and 3-D ultrasound in a 23-week fetus. The sonographic study depicted fetal scoliosis due to the presence of hemivertebrae, Sprengel's deformity of the left shoulder, ribs fusion, asymmetric ears with unilateral microtia, mandible unilateral hypoplasia as well as single umbilical artery and a 'golf ball' sign in the left ventricle of the heart. The diagnosis of OVAS was suggested and the family received proper genetic consultation. After termination of the pregnancy, the syndrome was confirmed by postmortem 3-D computed tomography study. In view of the grim outcome, prenatal death rate and high mortality and morbidity when three or more systems are involved, prenatal diagnosis and appropriate counseling are warranted.

  15. Update on prenatal care.

    PubMed

    Zolotor, Adam J; Carlough, Martha C

    2014-02-01

    Many elements of routine prenatal care are based on tradition and lack a firm evidence base; however, some elements are supported by more rigorous studies. Correct dating of the pregnancy is critical to prevent unnecessary inductions and to allow for accurate treatment of preterm labor. Physicians should recommend folic acid supplementation to all women as early as possible, preferably before conception, to reduce the risk of neural tube defects. Administration of Rho(D) immune globulin markedly decreases the risk of alloimmunization in an RhD-negative woman carrying an RhD-positive fetus. Screening and treatment for iron deficiency anemia can reduce the risks of preterm labor, intrauterine growth retardation, and perinatal depression. Testing for aneuploidy and neural tube defects should be offered to all pregnant women with a discussion of the risks and benefits. Specific genetic testing should be based on the family histories of the patient and her partner. Physicians should recommend that pregnant women receive a vaccination for influenza, be screened for asymptomatic bacteriuria, and be tested for sexually transmitted infections. Testing for group B streptococcus should be performed between 35 and 37 weeks' gestation. If test results are positive or the patient has a history of group B streptococcus bacteriuria during pregnancy, intrapartum antibiotic prophylaxis should be administered to reduce the risk of infection in the infant. Intramuscular or vaginal progesterone should be considered in women with a history of spontaneous preterm labor, preterm premature rupture of membranes, or shortened cervical length (less than 2.5 cm). Screening for diabetes should be offered using a universal or a risk-based approach. Women at risk of preeclampsia should be offered low-dose aspirin prophylaxis, as well as calcium supplementation if dietary calcium intake is low. Induction of labor may be considered between 41 and 42 weeks' gestation. PMID:24506122

  16. BMUS guidelines for the regular quality assurance testing of ultrasound scanners by sonographers

    PubMed Central

    Russell, Stephen; Ward, Barry; Hoskins, Peter

    2013-01-01

    Quality Assurance of ultrasound systems is necessary to ensure the reliability of results and to check for deterioration in performance; a number of bodies have produced guidelines. Testing has traditionally been the responsibility of Medical Physics Departments but the important role of sonographers has been recognised and recent publications have included tests to be performed by ultrasound users. Since there are differences in approach between these publications the BMUS QA Working Party was established to provide a consistent set of guidelines specifically for sonographers. Three levels of testing are recommended, to include infection control and inspections for scanner and probe damage, basic display checks and further tests to assess drop-out, sensitivity and noise. These tests should form part of a programme that includes more comprehensive testing at longer intervals, perhaps by a Medical Physics Department. PMID:27433187

  17. Sonographic findings in horses with mediastinal lymphosarcoma: 13 cases (1985-1992).

    PubMed

    Garber, J L; Reef, V B; Reimer, J M

    1994-11-15

    Sonographic findings correlated with necropsy findings in 8 of 9 horses in which the cranial portion of the mediastinum was evaluated by use of both methods. Cranial mediastinal masses were imaged as multilobular and homogeneously hypoechoic; a complex echogenic pattern was observed with necrosis within the mass. Pleural effusion was a common finding in horses with mediastinal lymphosarcoma. Cytologic evaluation of pleural fluid samples was useful in diagnosis of lymphosarcoma in 10 of 12 horses that had thoracentesis. Sonographic examination of the thorax and cranial portion of the mediastinum can aid in the diagnosis of mediastinal lymphosarcoma in horses. Such examination should be performed in horses with clinical signs of cranial vena cava obstruction in which pleural effusion is detected, or when thoracic lymphosarcoma is suspected. PMID:7698925

  18. Sonographic findings during and after Platelet Rich Plasma injections in tendons

    PubMed Central

    Abate, Michele; Verna, Sandra; Di Gregorio, Patrizia; Salini, Vincenzo; Schiavone, Cosima

    2014-01-01

    Summary Platelet rich plasma has been used in the treatment of tendinopathies, but the sonographic modifications of tendons have received less attention. In this paper we report the results of an ultrasound evaluation, performed during and after plasma injection, in patients with tendinopathy. The sonographic abnormalities and neovascularization were registered in twenty tendons. Three plasma injections (once a week) were performed, and a rehabilitation program was recommended. Pain and patients’ satisfaction were evaluated. During the injections plasma spread along the collagen fibers, and an intratendineous cleft produced by the injected volume was observed. At 12 months two tendons regained a normal echotexture, while neovessels were absent in seven. The remaining tendons showed less abnormalities and neovascularization in comparison with baseline. The clinical improvement was earlier and more consistent. The discrepancy between the ultrasound and clinical results may be explained by the peculiar modalities of tendon healing induced by plasma administration. PMID:24932444

  19. Licensure of the cardiac sonographer: an overview of issues and activities.

    PubMed

    Rosenbloom, J; Dempsey, A L; Gillam, L D; Davis, C L; Gresser, C; Kraft, C D; McIlwain, E F; Rutlege, S A; Waggoner, A D

    2001-12-01

    The impact of echocardiography on the continuum of cardiovascular health care is well established. Ongoing concerns regarding costs, accessibility, quality, and appropriateness of services rendered by practitioners of echocardiography have prompted various legislative proposals and regulatory policies from government, medical professional groups, and health plans. Specifically, there continues to be a drive to enact law for licensure of sonographers. These activities require continuing advocacy for the profession with active leadership. As part of its mission statement, the American Society of Echocardiography (ASE) states, "ASE strives to be a leader in public policy in order to create a favorable environment for excellence in the practice of echocardiography." As such, the ASE is committed to an increase in their interaction with legislators, payers, and policy makers. This article describes the historical perspective of state, federal, and provincial sonographer licensure issues to provide an understanding of the political perspectives. PMID:11734789

  20. Neck and upper extremity pain in sonographers - Associations with occupational factors.

    PubMed

    Gremark Simonsen, Jenny; Axmon, Anna; Nordander, Catarina; Arvidsson, Inger

    2017-01-01

    Sonographers have a high risk of musculoskeletal disorders. This study explores the associations between working conditions and musculoskeletal pain based on the frequency and intensity of pain in the neck and upper extremities. A questionnaire was answered by 291 female sonographers. High prevalence of neck/shoulder pain was associated with eye complaints and headache related to work on the computer, dissatisfaction with the computer workstation, high mechanical exposure index (MEI) and high demands. The possibility to adjust the keyboard and chair, and adequately corrected eyesight were positive factors. High prevalence of elbow/hand pain was associated with performing echocardiography, computer-related eye complaints, high MEI and high job and sensory demands. In echocardiography, working with a straight wrist and holding the transducer with a two-handed grip or alternating hands was associated with a low prevalence of elbow/hand pain. Thus, further improvements in the working conditions are possible and are recommended. PMID:27633219

  1. Hepatobiliary and pancreatic ascariasis-sonographic pictorial essay on four pediatric cases with acute biliary colic.

    PubMed

    Lynser, Donboklang; Marbaniang, Evarisalin

    2016-04-01

    Hepatobiliary and pancreatic ascariasis occur due to migration of the round worm ascaris lumbricoides through the bile duct orifice finally reaching the common bile duct, main pancreatic duct, intrahepatic ducts or gallbladder. These resulted in acute epigastric and right hypochondriac region colicky pain. Ultrasound is the investigation of choice in hepatobiliary ascariasis. We present here sonographic images on four pediatric patients with acute biliary colic. PMID:26690772

  2. Comparative Study of Clinical and Sonographic Estimation of Foetal Weight at Term.

    PubMed

    Bakshi, L; Begum, H A; Khan, I; Dey, S K; Bhattacharjee, M; Bakshi, M K; Dey, S; Habib, A; Barman, K K

    2015-07-01

    A cross sectional comparative study was conducted at Dhaka National Medical College, Dhaka from January to June 2012, to observe the accuracy of clinical and ultrasonographic estimation of foetal weight at term in our environment. Seventy five pregnant women who fulfilled the inclusion criteria had their foetal weight estimated independently using clinical and ultrasonographic methods. Accuracy was determined by percentage error, absolute percentage error and proportion of estimates within 10% of actual birth weight (birth weight fetus of +10%). Statistical analysis was done using the paired t-test, the Wilcoxon signed-rank test, and the chi-square test. The study sample had an actual average birth weight of 2989.60 ± 408.76 (range 2310-4000 gm). Overall, the clinical method overestimated birth-weight, while ultrasound underestimated it. The mean absolute percentage error of the clinical method was more than that of the sonographic method, and the number of estimates within 10% of actual birth weight for the clinical method (41.3%) was less than for the sonographic method (57.3%); the difference was not statistically significant. In the low birth-weight (<2,500 gm) group, the mean absolute percentage error of sonographic estimates were significantly smaller. Significantly more sonographic estimates (75%) were within 10% of actual birth-weight than those of the clinical method (0%). No statistically significant difference was observed in all the measures of accuracy for the normal birth-weight range of 2,500-<4,000 gm and in the macrosomic group (≥ 4,000 gm). Clinical estimation of birth-weight is as accurate as routine ultrasonographic estimation, except in low-birth-weight babies.

  3. Prenatal Detection of Congenital Heart Diseases: One-Year Survey Performing a Screening Protocol in a Single Reference Center in Brazil

    PubMed Central

    Rocha, Luciane Alves; Rolo, Liliam Cristine; Barros, Fernanda Silveira Bello; da Silva, Karina Peres; Leslie, Ana Teresa Figueiredo Stochero; Nardozza, Luciano Marcondes Machado; Moron, Antonio Fernandes

    2014-01-01

    Objective. To describe the experience of a tertiary center in Brazil to which patients are referred whose fetuses are at increased risk for congenital heart diseases (CHDs). Methods. This was a cross-sectional observational study. The data was collected prospectively, during the year 2012, through a screening protocol of the fetal heart adapted from the International Society of Ultrasound in Obstetrics and Gynecology (ISUOG) guideline. We performed a fetal echocardiogram screening for all pregnant women who were referred to the fetal cardiology outpatient obstetrics clinic of a university hospital. The exams were classified as normal or abnormal. The cases considered abnormal were undergone to a postnatal echocardiogram. We categorized the abnormal fetal heart according to severity in “complex,” “significant,” “minor,” and “others.” Results. We performed 271 fetal heart screening. The incidence of abnormal screenings was 9.96% (27 fetuses). The structural CHD when categorized due to severity showed 48.1% (n = 13) of “complex” cases, 18.5% (n = 5) “significant” cases, and 7.4% (n = 2) “minor” cases. The most common referral reason was by maternal causes (67%) followed by fetal causes (33%). The main referral indication was maternal metabolic disease (30%), but there was just one fetus with CHD in such cases (1.2%). CHDs were found in 19/29 fetuses with suspicion of some cardiac abnormality by obstetrician (65.5%). Conclusion. We observed a high rate of CHD in our population. We also found that there was higher incidence of complex cases. PMID:24523982

  4. What If the Prenatal Diagnosis of a Lethal Anomaly Turns Out to Be Wrong?

    PubMed

    Kidszun, André; Linebarger, Jennifer; Walter, Jennifer K; Paul, Norbert W; Fruth, Anja; Mildenberger, Eva; Lantos, John D

    2016-05-01

    Advances in prenatal diagnosis create a unique set of clinical ethics dilemmas. Doctors routinely obtain genetic screening, radiologic images, and biophysical profiling. These allow more accurate diagnosis and prognosis than has ever before been possible. However, they also reveal a wider range of disease manifestations than were apparent when prenatal diagnosis was less sophisticated. Sometimes, the best estimates of prognosis turn out to be wrong. The infant's symptoms may be less severe or more severe than anticipated based on prenatal assessment. We present a case in which a prenatal diagnosis was made of severe osteogenesis imperfecta, leading to a decision to induce delivery at 31 weeks. On postnatal evaluation, the infant's disease did not appear to be as bad as had been anticipated. We discuss the ethical implications of such diagnostic and prognostic errors. PMID:27244824

  5. [Noninvasive prenatal genetic diagnosis: a bioethical reflection on the use of noninvasive prenatal diagnosis from the analysis of nucleic acids present in maternal peripheral blood].

    PubMed

    González-Melado, Fermín J; Di Pietro, Maria Luisa

    2011-01-01

    The use of techniques that analyse the fetal nucleic acids present in maternal peripheral blood for the preparation of non-invasive prenatal genetic diagnosis, is a clinical reality in the case of certain diseases. In the coming years, it will become part of the routine monitoring for fetal diagnosis. This study analyzes the current status of these techniques as well as the major ethical issues arising from the relationship between - prenatal diagnosis and eugenic abortion, and the specific problems posed by - prenatal genetic diagnosis based an analysis of the nucleic acids present in maternal peripheral blood. Among the conclusions are the following: we make a positive ethical evaluation of the technique when it is aimed at pregnant women who are in a situation of high risk, defined on the basis of medical standards and ethics, without compromising the integrity of the fetus. We make a negative ethical evaluation when non-invasive prenatal genetic diagnosis has a eugenic purpose and will establish a connection between prenatal diagnosis and eugenic abortion in case of a positive result. Non-invasive prenatal diagnosis increases the image of the disabled person as an individual that has to be excluded from society. The widespread use of non-invasive prenatal diagnosis will decrease the autonomy of women / couples when it comes to making decisions. Health authorities may use non-invasive prenatal diagnosis as a way of ″preventing″ genetic diseases, since it will lower costs, increase the number of malformed fetuses detected and a decrease the number of indirect abortions involving invasive techniques. PMID:21692554

  6. Retrospective study of sonographic findings in bone involvement associated with rotator cuff calcific tendinopathy: preliminary results of a case series*

    PubMed Central

    Nogueira-Barbosa, Marcello H.; Gregio-Junior, Everaldo; Lorenzato, Mario Muller

    2015-01-01

    Objective The present study was aimed at investigating bone involvement secondary to rotator cuff calcific tendonitis at ultrasonography. Materials and Methods Retrospective study of a case series. The authors reviewed shoulder ultrasonography reports of 141 patients diagnosed with rotator cuff calcific tendonitis, collected from the computer-based data records of their institution over a four-year period. Imaging findings were retrospectively and consensually analyzed by two experienced musculoskeletal radiologists looking for bone involvement associated with calcific tendonitis. Only the cases confirmed by computed tomography were considered for descriptive analysis. Results Sonographic findings of calcific tendinopathy with bone involvement were observed in 7/141 (~ 5%) patients (mean age, 50.9 years; age range, 42-58 years; 42% female). Cortical bone erosion adjacent to tendon calcification was the most common finding, observed in 7/7 cases. Signs of intraosseous migration were found in 3/7 cases, and subcortical cysts in 2/7 cases. The findings were confirmed by computed tomography. Calcifications associated with bone abnormalities showed no acoustic shadowing at ultrasonography, favoring the hypothesis of resorption phase of the disease. Conclusion Preliminary results of the present study suggest that ultrasonography can identify bone abnormalities secondary to rotator cuff calcific tendinopathy, particularly the presence of cortical bone erosion. PMID:26811551

  7. Prenatal Nutrition and Later Education

    ERIC Educational Resources Information Center

    Evans, T. N.

    1972-01-01

    Text of an affidavit in the case, Kennedy v. Detroit Board of Education. Reports on a study which established that prenatal nutrition is directly related to brain size and volume determined at 48 hours of infancy and at eight months of age. Pinpoints the relationship between inadequate nutrition in pregnancy, infant brain size, and intellectual…

  8. Prenatal diagnosis of 47,XXX.

    PubMed

    Khoury-Collado, Fady; Wehbeh, Ammar N; Fisher, Allan J; Bombard, Allan T; Weiner, Zeev

    2005-05-01

    We report 2 cases of 47,XXX that were diagnosed prenatally and were screened positive for trisomy 21 by biochemical and ultrasound markers. These cases underline the importance of discussing the sex chromosome abnormalities during the genetic counseling after an abnormal triple screen test or ultrasound examination.

  9. Prenatal exposure to dexamethasone disturbs sex-determining gene expression and fetal testosterone production in male embryos.

    PubMed

    Yun, Hyo Jung; Lee, Ji-Yeon; Kim, Myoung Hee

    2016-02-26

    Prenatal stress is known to cause intrauterine fetal growth retardation, and is also associated with various long-term effects in the form of metabolic and neurodevelopmental diseases in adults. Many of the diseases associated with prenatal stress exhibit a sex bias. Perturbations and vulnerability to prenatal stress are often more profound in males, but the mechanisms responsible for this relationship are not clear. We have previously shown that administration of the synthetic glucocorticoid, dexamethasone (Dex), at embryonic days 7.5, 8.5, and 9.5, induces embryonic growth restriction in a sex-dependent manner in a mouse model. Here we examined the effect of prenatal exposure to Dex on gonadal development. During male gonadal development, sex-determining genes, such as Sry, Sox9, and other downstream genes, were found to be dysregulated in response to prenatal Dex, whereas the genes for the ovarian pathway were affected to a lesser degree in females. In addition, fetal testosterone concentrations were decreased by prenatal exposure to Dex, in parallel with reduced numbers of 3β-hydroxysteroid dehydrogenase (3β-HSD)-positive cells in the embryonic testis. These results show that prenatal exposure to Dex differentially influences male versus female on the gene expression and hormone production during sex determination. We believe these studies provide valuable insights into possible mechanisms responsible for sex-specific responses to prenatal stress.

  10. Prenatal exposure to dexamethasone disturbs sex-determining gene expression and fetal testosterone production in male embryos.

    PubMed

    Yun, Hyo Jung; Lee, Ji-Yeon; Kim, Myoung Hee

    2016-02-26

    Prenatal stress is known to cause intrauterine fetal growth retardation, and is also associated with various long-term effects in the form of metabolic and neurodevelopmental diseases in adults. Many of the diseases associated with prenatal stress exhibit a sex bias. Perturbations and vulnerability to prenatal stress are often more profound in males, but the mechanisms responsible for this relationship are not clear. We have previously shown that administration of the synthetic glucocorticoid, dexamethasone (Dex), at embryonic days 7.5, 8.5, and 9.5, induces embryonic growth restriction in a sex-dependent manner in a mouse model. Here we examined the effect of prenatal exposure to Dex on gonadal development. During male gonadal development, sex-determining genes, such as Sry, Sox9, and other downstream genes, were found to be dysregulated in response to prenatal Dex, whereas the genes for the ovarian pathway were affected to a lesser degree in females. In addition, fetal testosterone concentrations were decreased by prenatal exposure to Dex, in parallel with reduced numbers of 3β-hydroxysteroid dehydrogenase (3β-HSD)-positive cells in the embryonic testis. These results show that prenatal exposure to Dex differentially influences male versus female on the gene expression and hormone production during sex determination. We believe these studies provide valuable insights into possible mechanisms responsible for sex-specific responses to prenatal stress. PMID:26827828

  11. Prenatal Screening, Reproductive Choice, and Public Health

    PubMed Central

    Wilkinson, Stephen

    2015-01-01

    One widely held view of prenatal screening (PNS) is that its foremost aim is, or should be, to enable reproductive choice; this is the Pure Choice view. The article critiques this position by comparing it with an alternative: Public Health Pluralism. It is argued that there are good reasons to prefer the latter, including the following. (1) Public Health Pluralism does not, as is often supposed, render PNS more vulnerable to eugenics-objections. (2) The Pure Choice view, if followed through to its logical conclusions, may have unpalatable implications, such as extending choice well beyond health screening. (3) Any sensible version of Public Health Pluralism will be capable of taking on board the moral seriousness of abortion and will advocate, where practicable, alternative means of reducing the prevalence of disease and disability. (4) Public Health Pluralism is at least as well-equipped as the Pure Choice model to deal with autonomy and consent issues. PMID:25521971

  12. Prenatal screening, reproductive choice, and public health.

    PubMed

    Wilkinson, Stephen

    2015-01-01

    One widely held view of prenatal screening (PNS) is that its foremost aim is, or should be, to enable reproductive choice; this is the Pure Choice view. The article critiques this position by comparing it with an alternative: Public Health Pluralism. It is argued that there are good reasons to prefer the latter, including the following. (1) Public Health Pluralism does not, as is often supposed, render PNS more vulnerable to eugenics-objections. (2) The Pure Choice view, if followed through to its logical conclusions, may have unpalatable implications, such as extending choice well beyond health screening. (3) Any sensible version of Public Health Pluralism will be capable of taking on board the moral seriousness of abortion and will advocate, where practicable, alternative means of reducing the prevalence of disease and disability. (4) Public Health Pluralism is at least as well-equipped as the Pure Choice model to deal with autonomy and consent issues.

  13. Trogocytosis as a mechanistic link between chimerism and prenatal tolerance.

    PubMed

    Alhajjat, Amir M; Strong, Beverly S; Durkin, Emily T; Turner, Lucas E; Wadhwani, Ram K; Midura, Emily F; Keswani, Sundeep G; Shaaban, Aimen F

    2013-01-01

    In utero hematopoietic cellular transplantation (IUHCT) holds great promise for the treatment of congenital diseases of cellular dysfunction such as sickle cell disease, immunodeficiency disorders and inherited metabolic disorders. However, repeated failures in clinical cases of IUHCT that do not involve an immunodeficiency disease force a closer examination of the fetal immune system. While the mechanisms regulating T cell tolerance have been previously studied, the educational mechanisms leading to NK cell tolerance in prenatal chimeras remain unknown. As a low level of donor cells (1.8%) is required to induce and maintain this tolerance, it is likely that these mechanisms employ indirect host-donor interaction. This report examines donor-to-host MHC transfer (trogocytosis) as an intrinsic mechanism regulating the development and maintenance of NK cell tolerance in prenatal chimeras. The findings demonstrate that phenotypically tolerant host NK cells express low levels of transferred donor MHC antigens during development and later as mature cytotoxic lymphocytes. Further study is needed to understand how the cis-recognition of transferred donor MHC ligand influences the selection and maintenance of tolerant NK cells in prenatal chimeras.

  14. Prenatal assessment of fetal chromosomal and genetic disorders through maternal plasma DNA analysis.

    PubMed

    Liao, Gary J W; Chiu, Rossa W K; Lo, Y M Dennis

    2012-02-01

    The existence of cell free DNA derived from the fetus in the plasma of pregnant women was first demonstrated in 1997. This discovery offered the possibility of non-invasive sampling of fetal genetic material simply through the collection of a maternal blood sample. Such cell free fetal DNA molecules in the maternal circulation have subsequently been shown to originate from the placenta and could be detected from about 7 weeks of gestation. It has been shown that cell free fetal DNA analysis could offer highly accurate assessment of fetal genotype and chromosomal makeup for some applications. Thus, cell free fetal DNA analysis has been incorporated as a part of prenatal screening programs for the prenatal management of sex-linked and sex-associated diseases, rhesus D incompatibility as well as the prenatal detection of Down's syndrome.Cell free fetal DNA analysis may lead to a change in the way prenatal assessments are made.

  15. Mutation-based prenatal diagnosis of Herlitz junctional epidermolysis bullosa.

    PubMed

    Christiano, A M; Pulkkinen, L; McGrath, J A; Uitto, J

    1997-04-01

    Epidermolysis bullosa (EB) is a group of heritable diseases which manifest with blistering and erosions of the skin and mucous membranes. Due of life-threatening complications and significant long-term morbidity associated with the severe, neonatal lethal (Herlitz) form of junctional EB (H-JEB), there has been a demand for prenatal diagnosis from families at risk for recurrence. Previously, the only reliable method of prenatal diagnosis of EB was a fetal skin biopsy performed at 16-20 weeks' gestation and analysed by electron microscopy. Recently, the genes LAMA3, LAMB3, and LAMC2, encoding the polypeptide subunits of laminin 5, an anchoring filament protein, have been shown to contain mutations in H-JEB. In this study, direct detection of pathogenetic mutations in the laminin 5 genes was used to perform polymerase chain reaction (PCR)-based prenatal testing. DNA was obtained by chorionic villus sampling (CVS) at 10-15 weeks or amniocentesis at 12-19 weeks' gestation in 15 families at risk for recurrence of JEB. In 13 cases, the fetus was predicted to be either genetically normal or a clinically unaffected carrier of a mutation in one allele. These predictions have been validated in all cases by the birth of a healthy child. In two cases, an affected fetus was predicted, and the diagnosis was confirmed by subsequent fetal skin biopsy. These results demonstrate that DNA-based prenatal testing offers an early, expedient, and accurate method of prenatal diagnosis or an exclusion of Herlitz JEB. PMID:9160387

  16. Non-invasive prenatal testing: ethical issues explored.

    PubMed

    de Jong, Antina; Dondorp, Wybo J; de Die-Smulders, Christine E M; Frints, Suzanne G M; de Wert, Guido M W R

    2010-03-01

    This paper explores the ethical implications of introducing non-invasive prenatal diagnostic tests (NIPD tests) in prenatal screening for foetal abnormalities. NIPD tests are easy and safe and can be performed early in pregnancy. Precisely because of these features, it is feared that informed consent may become more difficult, that both testing and selective abortion will become 'normalized', and that there will be a trend towards accepting testing for minor abnormalities and non-medical traits as well. In our view, however, the real moral challenge of NIPD testing consists in the possibility of linking up a technique with these features (easy, safe and early) with new genomic technologies that allow prenatal diagnostic testing for a much broader range of abnormalities than is the case in current procedures. An increase in uptake and more selective abortions need not in itself be taken to signal a thoughtless acceptance of these procedures. However, combining this with considerably enlarging the scope of NIPD testing will indeed make informed consent more difficult and challenge the notion of prenatal screening as serving reproductive autonomy. If broad NIPD testing includes later-onset diseases, the 'right not to know' of the future child will become a new issue in the debate about prenatal screening. With regard to the controversial issue of selective abortion, it may make a morally relevant difference that after NIPD testing, abortion can be done early. A lower moral status may be attributed to the foetus at that moment, given the dominant opinion that the moral status of the foetus progressively increases with its development. PMID:19953123

  17. Prenatal diagnosis of achondrogenesis.

    PubMed

    Anteby, S O; Aviad, I; Weinstein, D

    1977-01-01

    An achondrogenic fetus, in whom the diagnosis was made prior to delivery by plain abdominal X-rays, is presented. The intrauterine characteristic roentgenographic manifestations are the short dense tubular bones of the extremities. An early diagnosis in fetuses with this disease can be made on a plain abdominal X-ray in the 22nd-24th week of gestation. PMID:300166

  18. A Population-Based Study of the Association of Prenatal Diagnosis With Survival Rate for Infants With Congenital Heart Defects

    PubMed Central

    Oster, Matthew E.; Kim, Christopher H.; Kusano, Aaron S.; Cragan, Janet D.; Dressler, Paul; Hales, Alice R.; Mahle, William T.; Correa, Adolfo

    2015-01-01

    Prenatal diagnosis has been shown to improve preoperative morbidity in newborns with congenital heart defects (CHDs), but there are conflicting data as to the association with mortality. We performed a population-based, retrospective, cohort study of infants with prenatally versus postnatally diagnosed CHDs from 1994 to 2005 as ascertained by the Metropolitan Atlanta Congenital Defects Program. Among infants with isolated CHDs, we estimated 1-year Kaplan-Meier survival probabilities for prenatal versus postnatal diagnosis and estimated Cox proportional hazard ratios adjusted for critical CHD status, gestational age, and maternal race/ethnicity. Of 539,519 live births, 4,348 infants had CHDs (411 prenatally diagnosed). Compared with those with noncritical defects, those with critical defects were more likely to be prenatally diagnosed (58% vs 20%, respectively, p <0.001). Of the 3,146 infants with isolated CHDs, 1-year survival rate was 77% for those prenatally diagnosed (n = 207) versus 96% for those postnatally diagnosed (n = 2,939, p <0.001). Comparing 1-year survival rate among those with noncritical CHDs alone (n = 2,455) showed no difference between prenatal and postnatal diagnoses (96% vs 98%, respectively, p = 0.26), whereas among those with critical CHDs (n = 691), prenatally diagnosed infants had significantly lower survival rate (71% vs 86%, respectively, p <0.001). Among infants with critical CHDs, the adjusted hazard ratio for 1-year mortality rate for those prenatally versus postnatally (reference) diagnosed was 2.51 (95% confidence interval 1.72 to 3.66). In conclusion, prenatal diagnosis is associated with lower 1-year survival rate for infants with isolated critical CHDs but shows no change for those with isolated noncritical CHDs. More severe disease among the critical CHD subtypes diagnosed prenatally might explain these findings. PMID:24472597

  19. Prenatal diagnosis of cloacal malformation.

    PubMed

    Peiro, Jose L; Scorletti, Federico; Sbragia, Lourenco

    2016-04-01

    Persistent cloaca malformation is the most severe type of anorectal and urogenital malformation. Decisions concerning the surgical treatment for this condition are taken during the first hours of life and may determine the quality of life of these patients. Thus, prenatal diagnosis becomes important for a prompt and efficient management of the fetus and newborn, and accurate counseling of the parents regarding its consequences and the future of the baby. Careful evaluation by ultrasonography, and further in-depth analysis with MRI, allow prenatal detection of characteristic findings, which can lead to diagnose or at least suspect this condition. We reviewed our experience and the literature in order to highlight the most important clues that can guide the physician in the differential diagnosis. PMID:26969229

  20. [Sonographic diagnosis of a case of type 1 achondrogenesis in the 2d trimester].

    PubMed

    Schramm, T; Nerlich, A

    1989-10-01

    The authors report on a prenatal ultrasonic diagnosis of lethal osteochondrodysplasia achondrogenesis type I (Parenti-Fraccaro) in the 17th week of pregnancy. The prenatal findings were confirmed by necropsy after termination of the pregnancy. The possibility to recognize lethal skeletal disorders early in pregnancy is discussed as well as the patho-anatomical criteria and possible patho-physiological mechanisms of achondrogenesis. PMID:2684730

  1. Usefulness of diagnostic indices comprising clinical, sonographic, and biomarker data for discriminating benign from malignant ovarian masses.

    PubMed

    Stukan, Maciej; Dudziak, Miroslaw; Ratajczak, Karol; Grabowski, Jacek P

    2015-02-01

    The objective of this study was to review the accuracy of indices combining several diagnostic variables, in comparison to other models, sonography alone, and biomarker assays, for predicting benign or malignant ovarian lesions. Different single modalities were reviewed. The most useful complex models were International Ovarian Tumor Analysis (IOTA) sonographic logistic regression model 2 (area under the curve, 0.949), risk of malignancy index-cancer antigen 125-human epididymis protein 4 (0.950), risk of malignancy algorithm (0.953), pelvic mass score (0.960), non-IOTA logistic regression model (0.970), and histoscanning score logistic regression model (0.970). None of the indices was superior to an expert subjective sonographic assessment (0.968). For women with adnexal tumors, indices with high accuracy are available that are applicable in clinical practice and comparable to an expert subjective sonographic assessment for discriminating benign from malignant masses.

  2. Reliability Assessment of Various Sonographic Techniques for Evaluating Carpal Tunnel Syndrome.

    PubMed

    Junck, Anthony D; Escobedo, Eva M; Lipa, Bethany M; Cronan, Michael; Anthonisen, Colleen; Poltavskiy, Eduard; Bang, Heejung; Han, Jay J

    2015-11-01

    Objectives-The aim of this study was to determine the intra- and inter-rater reliability of sonographic measurements of the median nerve cross-sectional area in individuals with carpal tunnel syndrome and healthy control participants.Methods-The median nerve cross-sectional area was evaluated by sonography in 18 participants with carpal tunnel syndrome (18 upper extremities) and 9 control participants (18 upper extremities) at 2 visits 1 week apart. Two examiners, both blinded to the presence or absence of carpal tunnel syndrome, captured independent sonograms of the median nerve at the levels of the carpal tunnel inlet, pronator quadratus, and mid-forearm. The cross-sectional area was later measured by each examiner independently. Each also traced images that were captured by the other examiner.Results-Both the intra- and inter-rater reliability rates were highest for images taken at the carpal tunnel inlet (radiologist, r = 0.86; sonographer, r = 0.87; inter-rater, r = 0.95; all P < .0001), whereas they was lowest for the pronator quadratus (r = 0.49, 0.29, and 0.72, respectively; all P < .0001). At the mid-forearm, the intra-rater reliability was lower for both the radiologist and sonographer, whereas the inter-rater reliability was relatively high (r = 0.54, 0.55, and 0.81; all P < .0001). Tracing of captured images by different examiners showed high concordance for the median cross-sectional area at the carpal tunnel inlet (r = 0.96-0.98; P < .0001).Conclusions-The highest intra- and inter-rater reliability was found at the carpal tunnel inlet. The results also demonstrate that tracing of the median nerve cross-sectional area from captured images by different examiners does not contribute significantly to measurement variability.

  3. Reliability Assessment of Various Sonographic Techniques for Evaluating Carpal Tunnel Syndrome.

    PubMed

    Junck, Anthony D; Escobedo, Eva M; Lipa, Bethany M; Cronan, Michael; Anthonisen, Colleen; Poltavskiy, Eduard; Bang, Heejung; Han, Jay J

    2015-11-01

    Objectives-The aim of this study was to determine the intra- and inter-rater reliability of sonographic measurements of the median nerve cross-sectional area in individuals with carpal tunnel syndrome and healthy control participants.Methods-The median nerve cross-sectional area was evaluated by sonography in 18 participants with carpal tunnel syndrome (18 upper extremities) and 9 control participants (18 upper extremities) at 2 visits 1 week apart. Two examiners, both blinded to the presence or absence of carpal tunnel syndrome, captured independent sonograms of the median nerve at the levels of the carpal tunnel inlet, pronator quadratus, and mid-forearm. The cross-sectional area was later measured by each examiner independently. Each also traced images that were captured by the other examiner.Results-Both the intra- and inter-rater reliability rates were highest for images taken at the carpal tunnel inlet (radiologist, r = 0.86; sonographer, r = 0.87; inter-rater, r = 0.95; all P < .0001), whereas they was lowest for the pronator quadratus (r = 0.49, 0.29, and 0.72, respectively; all P < .0001). At the mid-forearm, the intra-rater reliability was lower for both the radiologist and sonographer, whereas the inter-rater reliability was relatively high (r = 0.54, 0.55, and 0.81; all P < .0001). Tracing of captured images by different examiners showed high concordance for the median cross-sectional area at the carpal tunnel inlet (r = 0.96-0.98; P < .0001).Conclusions-The highest intra- and inter-rater reliability was found at the carpal tunnel inlet. The results also demonstrate that tracing of the median nerve cross-sectional area from captured images by different examiners does not contribute significantly to measurement variability. PMID:26453123

  4. The Future of Prenatal Diagnosis and Screening

    PubMed Central

    Pergament, Eugene

    2014-01-01

    The future of prenatal diagnosis and screening lies in developing clinical approaches and laboratory technologies applicable to genetic analyses and therapeutic interventions during embryonic development. PMID:26237604

  5. Prenatal Diagnosis of Congenital Adrenal Hyperplasia.

    PubMed

    Yau, Mabel; Khattab, Ahmed; New, Maria I

    2016-06-01

    Congenital adrenal hyperplasia (CAH) owing to 21-hydroxylase deficiency is a monogenic disorder of adrenal steroidogenesis. To prevent genital ambiguity, in girls, prenatal dexamethasone treatment is administered early in the first trimester. Prenatal genetic diagnosis of CAH and fetal sex determination identify affected female fetuses at risk for genital virilization. Advancements in prenatal diagnosis are owing to improved understanding of the genetic basis of CAH and improved technology. Cloning of the CYP21A2 gene ushered in molecular genetic analysis as the current standard of care. Noninvasive prenatal diagnosis allows for targeted treatment and avoids unnecessary treatment of males and unaffected females. PMID:27241964

  6. Associations of sonographic abnormalities of the shoulder with various grades of biceps peritendinous effusion (BPE).

    PubMed

    Chang, Ke-Vin; Chen, Wen-Shiang; Wang, Tyng-Guey; Hung, Chen-Yu; Chien, Kuo-Liong

    2014-02-01

    Bicipital peritendinous effusion (BPE), a common ultrasonographic finding of the long head of the biceps tendon, may be associated with shoulder joint derangement, but supporting evidence from large-scale studies is lacking. The aim of this cross-sectional study was to determine the strength of the association between BPE and sonographic abnormalities of the shoulder joint. We reviewed the sonographic reports of patients with suspected shoulder disorders investigated ultrasonographically between January 2011 and January 2012. BPE was graded according to its measured thickness as absent (<1 mm), mild (1-2 mm), moderate (2-3 mm) or severe (>3 mm). The associations between BPE and sonographic abnormalities were examined using multinomial logistic regression adjusted for age, gender, affected side and clinical diagnosis of frozen shoulder. The prevalence rates of absent, mild, moderate and severe BPE among the 907 shoulders examined were 64.1%, 17.8%, 10.4% and 7.7%, respectively. Frozen shoulder was associated with mild BPE (relative risk [RR] vs. participants without BPE = 1.83, 95% confidence interval [CI] = 1.28-2.50). Sonographic findings of biceps tendinopathy, subdeltoid bursitis and full-thickness tears of the supraspinatus tendon were significantly associated with the entire spectrum of BPE, whereas subscapularis tendon tears were significantly associated with moderate (RR = 2.47, 95% CI = 1.29-4.69) and severe (RR = 3.11, 95% CI = 1.51-6.33) BPE. Severe BPE was associated with articular-sided partial-thickness tears of the supraspinatus tendon (RR = 14.32, 95% CI = 4.30-34.35), posterior recess effusion (RR, 7.98, 95% CI = 1.44-34.93) and biceps medial subluxation (RR = 7.25, 95% CI = 1.90-22.33). Our study indicates that BPE is related to various shoulder abnormalities and that the strengths of these associations depend on the severity of BPE. Clinicians encountering BPE should grade its severity and be alert for hidden lesions of

  7. Breast Filariasis Diagnosed by Real Time Sonographic Imaging: A Case Report.

    PubMed

    Sherwani, Poonam; Singhal, Shweta; Kumar, Nidhi; Narula, Mahender Kaur; Anand, Rama; Pathania, Om Prakash

    2016-01-01

    A 30-year-old woman presented with a palpable subcutaneous nodule in the areolar region of the left breast. Sonomammographic examination revealed 2 cystic lesions showing typical "filarial dance" as vigorous twirling movement of multiple curvilinear echoes with mixed red blue color Doppler signals that was non-rhythmic, nonpulsatile, and the characteristic pulse Doppler trace due to irregular worm movement. Real time sonographic demonstration of these typical features is pathognomonic for filariasis, especially in endemic areas and treatment should be initiated without delay on the basis of ultrasound. PMID:27110331

  8. Sonographic and computed tomographic evaluation of intrahepatic calculi

    SciTech Connect

    Menu, Y.; Lorphelin, J.M.; Scherrer, A.; Grenier, P.; Nahum, H.

    1985-09-01

    Intrahepatic calculi in non-Asian patients were studied by sonography and computed tomography (CT). Three patients were studied by CT cholangiography also. In two cases, the calculi were consecutive to Caroli disease, and in two others, the biliary stones were formed proximal to a stenosis of a previous surgical anastomosis. Five patients spontaneously developed intrahepatic calculi. All sonograms were abnormal. Image specificity was good, even when bile ducts were not dilated, if appropriate technique allowed identification of a double-arc-shadow pattern. Sonography strongly suggested the diagnosis in eight patients and was nonspecific in only one. On CT, calculi had various densities, and they were not visible in two patients. CT cholangiography was not particularly helpful. Both examinations strongly underestimate the number of stones, and direct cholangiography remains indicated if surgery is planned.

  9. [Prenatal diagnosis. I: Prenatal diagnosis program at the Medical Genetics Unit of the Universidad de Zulia, Maracaibo, Venezuela].

    PubMed

    Prieto-Carrasquero, M; Molero, A; Carrasquero, N; Paz, V; González, S; Pineda-Del Villar, L; Del Villar, A; Rojas-Atencio, A; Quintero, M; Fulcado, W; Mena, R; Morales-Machin, A

    1998-06-01

    The Prenatal Diagnosis Program of the Medical Genetic Unit of University of Zulia has the following objectives: Identification of Genetic Risk Factors (GRF) in those couples who attend to the Prenatal Genetic Clinic, application of different prenatal diagnostic procedures (PDP), and providing adequate genetic counseling. The goal of this paper is to show preliminary results obtained between January 1993 and December 1996. Three hundred and twenty one pregnant women were analyzed by determining the GRF and taking into account the genetic clinical history. The GRF analyzed were: Advanced maternal age (AMA), congenital malformation history (CMH), previous child with chromosomic anomalies (PCCA), defects of neural tube history (DNTH), congenital heart disease history (CHDH), any parent carrier of chromosomic anomaly (PCA), habitual abortion (HA), abnormal fetal echography (AFE), altered maternal serum levels of alpha-feto-protein (AMSAFP) and OTHERS: exposure to teratogenic agents, history of Mendelian diseases, maternal systemic diseases and anxiety in the mother or in her partner. The PDP was designed according to the GRF, which included fetal echography (FE), fetal echocardiography (FEc), amniocentesis (AMN), chordocentesis (CCT) and AMSAFP. Results showed that 58.4% of the expectant mothers asked for counseling during the 2nd trimester, 70% of the total showed only one GRF, and AMA was the most frequent GRF found (40.3%), followed by PCCA, AFE, CHDH, HA, DNTH, PCA, and OTHERS in that order. The specific PDP applied to the identified GRF allowed a health evaluation of the fetus. The GRF identification gave the opportunity of establishing a Prenatal Diagnostic Program producing a response to the couple's needs and showed the utility of an integral and multidisciplinary management directed to any expecting mother in order to identify any high GRF.

  10. IARS mutation causes prenatal death in Japanese Black cattle.

    PubMed

    Hirano, Takashi; Matsuhashi, Tamako; Takeda, Kenji; Hara, Hiromi; Kobayashi, Naohiko; Kita, Kazuo; Sugimoto, Yoshikazu; Hanzawa, Kei

    2016-09-01

    Isoleucyl-tRNA synthetase (IARS) c.235G > C (p.V79L) is a causative mutation for a recessive disease called IARS disorder in Japanese black cattle. The disease is involved in weak calf syndrome and is characterized by low birth weight, weakness and poor suckling. The gestation period is often slightly extended, implying that intrauterine growth is retarded. In a previous analysis of 2597 artificial insemination (AI) procedures, we suggested that the IARS mutation might contribute toward an increase in the incidence of prenatal death. In this study, we extended this analysis to better clarify the association between the IARS mutation and prenatal death. The IARS genotypes of 92 animals resulting from crosses between carrier (G/C) × G/C were 27 normal (G/G), 55 G/C and 10 affected animals (C/C) (expected numbers: 23, 46 and 23, respectively). Compared to the expected numbers, there were significantly fewer affected animals in this population (P < 0.05), suggesting that more than half of the affected embryos died prenatally. When the number of AI procedures examined was increased to 11 580, the frequency of re-insemination after G/C × G/C insemination was significantly higher at 61-140 days (P < 0.001). The findings suggested that the homozygous IARS mutation not only causes calf death, but also embryonic or fetal death. PMID:27229878

  11. Prenatal detection of a congenital pancreatic cyst by ultrasound.

    PubMed

    Choi, Sang-Joon; Kang, Min-Chang; Kim, Young-Hye; Lim, Ju-Sung; Lim, Sung-Chul; Chang, Jung-Hwan

    2007-02-01

    We present a case of a fetal pancreatic cyst, a rare disease in fetal life, detected prenatally at 30 weeks' gestation by ultrasound. Routine ultrasound examination at 30 weeks' gestation by primary obstetrician showed a cyst on the fetal abdomen. Initially, the suspected diagnosis was a mesenteric cyst. Subsequent ultrasound examination at weeks 32, 36 showed a fetal retroperitoneal cyst. A 3.6 kg female neonate was born to 23 yr old woman by spontaneous vaginal delivery at 38 weeks' gestation. The fetus underwent exploratory laparotomy. Histopathologic and immunohistochemical diagnosis revealed the cyst to be a pancreatic cyst. Surgical outcome was excellent. Thus, we report this case of a pancreatic cyst detected via prenatal ultrasonography.

  12. Prenatal and neonatal radiation injury and lymphohematopoietic development in the dog

    SciTech Connect

    Nold, J.B.

    1985-01-01

    Immunologic and hematopoietic responses were studied in beagle dogs following prenatal or neonatal irradiation to evaluate the effects of ionizing radiation on the developing lymphohematopoietic system. In prenatally-irradiated dogs thymic medullary volumes were significantly reduced at birth, but had returned to control levels by 12 weeks of age. Irradiated dogs exhibited a significant reduction in primary humoral antibody responses and showed a concurrent decrease in T helper lymphocytes in the peripheral blood. In neonatally-irradiated dogs lymphocyte blastogenic responses were sharply decreased at 8 weeks, but returned to control levels by 12 weeks of age. Contact sensitivity to dinitrochlorobenzene was decreased, indicating reduced cell-mediated immune responses. Alterations in peripheral blood lymphocyte subpopulations included decreases in B cells and increases in T cells, possibly due to increased numbers of T suppressor cells. There were significant reductions in body size and body tissue weights in all irradiated dogs, although these were more severe and persistent in the prenatally-irradiated dogs. These data show that prenatally or neonatally-irradiated dogs have significantly postnatal immunologic and hematopoietic defects. The effect on bone marrow function in prenatally-irradiated dogs was more severe and persistent than in neonatally-irradiated animals; however, the neonatally-irradiated dogs exhibited more severe alterations in lymphocyte subpopulations than did the prenatally-irradiated dogs. The observation of altered lymphocyte subpopulations suggests altered immunoregulation and raises some important questions relating to radiation-induced immunodeficiency and increased susceptibility to clinical disease, including neoplasia.

  13. Prevalence of different hip sonographic types: A cross-sectional study

    PubMed Central

    Adibi, Atoosa; Karami, Mahdi; Koohi, Kaveh; Shirahmad, Mehran

    2015-01-01

    Background: Developmental dysplasia of the hip (DDH) is an anatomical abnormality, which needs early detection and treatment. Ultrasound (US) is a sensitive method to study neonatal hip joint and detection of different types of sonographic hip. This study was aimed to determine relative frequency of different types of DDH ultrasonographically. Materials and Methods: Ultrasound examination was performed on 380 newborns to determine hip joint status according to the Graf ultrasound classification system for infant hips. In addition, hip joint status was compared based on the hip side, gender, and method of delivery. Results: In this study, we observed three sonographic types: Ia (74%), type Ib (20%), and IIa (6%). No significant difference was found in relative frequency of different types of DDH regarding the side of the hip (P = 0.18). Type IIa was found significantly more in the female newborns (P < 0.0001) and in newborns who were born by cesarean section (P < 0.0001). Conclusion: This study supports the role of US detection of different types of DDH; however, the frequency of pathologic types of hip sonography is 6%. PMID:25709988

  14. Adhesive capsulitis: one sonographic-guided injection of 20 mg triamcinolon into the rotator interval.

    PubMed

    Juel, Niels Gunnar; Oland, Gunnar; Kvalheim, Synnøve; Løve, Tormod; Ekeberg, Ole Marius

    2013-06-01

    The aim of this study was to establish a method for injecting corticosteroid into the rotator interval under sonographic guidance and to measure the effect on function, pain and range of motion after 4 and 12 weeks. This study involved a multicenter cohort trial and carried out at outpatient clinics of the physical medicine and rehabilitation departments in Oslo and Porsgrunn, Norway. 39 patients with adhesive capsulitis lasting between 3 and 12 months. Sonographic-guided corticosteroid and lidocaine injection into the rotator interval medial to the biceps tendon using 20 mg triamcinolon hexacetat and 3 ml 20 mg/ml xylocain. Change in the shoulder pain and disability index score (SPADI) after 12 weeks. The change in SPADI was 42 points (95 % confidence interval, 33-51). Changes in the secondary outcomes shoved highly statistically significant increase in active and passive range of motion. One ultrasound-guided corticosteroid injection into the rotator interval seems to give significant improvement in SPADI and active range of motion after 12 weeks. The protocol was evaluated by the research faculty at Oslo university hospital, dept of physical medicine. The study was regarded as regular clinical procedure as injections with triamcinolon already is standard treatment. No trial registration was obtained but the protocol presented the local ethics committee without comments. PMID:23263492

  15. Conceptions of Prenatal Development: Behavioral Embryology

    ERIC Educational Resources Information Center

    Gottlieb, Gilbert

    1976-01-01

    Describes recent progress in research on prenatal behavioral development and in a systematic fashion the various ways in which prenatal experience can affect the development of behavior in the neonate as well as in the embryo and fetus. (Author/RK)

  16. Prenatal Maternal Stress Programs Infant Stress Regulation

    ERIC Educational Resources Information Center

    Davis, Elysia Poggi; Glynn, Laura M.; Waffarn, Feizal; Sandman, Curt A.

    2011-01-01

    Objective: Prenatal exposure to inappropriate levels of glucocorticoids (GCs) and maternal stress are putative mechanisms for the fetal programming of later health outcomes. The current investigation examined the influence of prenatal maternal cortisol and maternal psychosocial stress on infant physiological and behavioral responses to stress.…

  17. Prenatal microwave exposure and behavior

    SciTech Connect

    O'Connor, M.E.

    1988-01-01

    The hypotheses for the initial investigation was based on the idea that failure to observe structural teratogenesis following microwave exposure did not preclude the possibility that such exposure would result in behavioral changes. We also proposed that such exposure might specifically alter some aspect of thermoregulatory behavior. The results of these studies support both of these hypotheses. Whether the studies show enhanced thermal sensitivity or enhanced development, they do support the hypothesis that prenatal exposure to microwave radiation is more likely to alter postnatal sensitivity to thermally related stimuli or conditions as compared to stimuli that are thermally neutral.

  18. Prenatal Diagnosis of Congenital Adrenal Hyperplasia Caused by P450 Oxidoreductase Deficiency

    PubMed Central

    Reisch, Nicole; Idkowiak, Jan; Hughes, Beverly A.; Ivison, Hannah E.; Abdul-Rahman, Omar A.; Hendon, Laura G.; Olney, Ann Haskins; Nielsen, Shelly; Harrison, Rachel; Blair, Edward M.; Dhir, Vivek; Krone, Nils; Shackleton, Cedric H. L.

    2013-01-01

    Context: Mutations in the electron donor enzyme P450 oxidoreductase (POR) result in congenital adrenal hyperplasia with apparent combined 17α-hydroxylase/17,20 lyase and 21-hydroxylase deficiencies, also termed P450 oxidoreductase deficiency (PORD). Major clinical features present in PORD are disordered sex development in affected individuals of both sexes, glucocorticoid deficiency, and multiple skeletal malformations. Objective: The objective of the study was to establish a noninvasive approach to prenatal diagnosis of PORD including assessment of malformation severity to facilitate optimized prenatal diagnosis and timely treatment. Design: We analyzed 20 pregnancies with children homozygous or compound heterozygous for disease-causing POR mutations and 1 pregnancy with a child carrying a heterozygous POR mutation by recording clinical and biochemical presentations and fetal ultrasound findings. In 4 of the pregnancies (3 homozygous and 1 heterozygous for disease-causing POR mutations), prenatal analysis of steroid metabolite excretion in maternal urine was carried out by gas chromatography/mass spectrometry during gestational weeks 11–23. Results: Pregnancy complications in our cohort included maternal virilization (6 of 20) with onset in the second trimester. Seven pregnant women presented with low unconjugated estriol at prenatal screening (triple or quadruple antenatal screening test). Overt dysmorphic features were noted in 19 of the 20 babies at birth but observed in only 5 by prenatal ultrasound. These 5 had the most severe malformation phenotypes and poor outcome, whereas the other babies showed normal development. Steroid profiling of maternal urine revealed significantly increased steroids of fetal origin, namely the pregnenolone metabolite epiallopregnanediol and the androgen metabolite androsterone, with concomitant low values for estriol. Diagnostic steroid ratios conclusively indicated PORD as early as gestational week 12. In the heterozygous

  19. Prenatal arsenic exposure and drowning among children in Bangladesh.

    PubMed

    Rahman, Mahfuzar; Sohel, Nazmul; Hore, Samar Kumar; Yunus, Mohammad; Bhuiya, Abbas; Streatfield, Peter Kim

    2015-01-01

    There is increasing concern regarding adverse effects of prenatal arsenic exposure on the neurodevelopment of children. We analyzed mortality data for children, who were born to 11,414 pregnant women between 2002 and 2004, with an average age of 5 years of follow-up. Individual drinking-water arsenic exposure during pregnancy was calculated using tubewell water arsenic concentration between last menstrual period and date of birth. There were 84 drowning deaths registered, with cause of death ascertained using verbal autopsy (International Classification of Diseases, 10th revision, codes X65-X70). The prenatal water arsenic exposure distribution was tertiled, and the risk of drowning mortality was estimated by Cox proportional hazard models, adjusted for potential confounders. We observed a significant association between prenatal arsenic exposure and drowning in children aged 1-5 years in the highest exposure tertile (HR=1.74, 95% CI: 1.03-2.94). This study showed that in utero arsenic exposure might be associated with excess mortality among children aged 1-5 years due to drowning.

  20. Prenatal findings in trisomy 16q of paternal origin.

    PubMed

    Paladini, D; D'Agostino, A; Liguori, M; Teodoro, A; Tartaglione, A; Colombari, S; Martinelli, P

    1999-05-01

    A 34-year-old pregnant woman was referred at 30 weeks of gestation with suspected fetal congenital heart disease. On prenatal ultrasound the following anomalies were detected: intra-uterine growth retardation, micrognathia, coarctation of the aorta with ventricular and atrial septal defects, ambiguous external genitalia, and clinodactyly of one hand with adducted thumb. Prenatal karyotyping was offered but refused by the patient. The fetus was delivered by Caesarean section due to fetal distress at 36 weeks of gestation. The neonate, weighing 2150 g was transferred to the neonatal intensive care unit, where he died 10 days later. The karyotype from peripheral blood lymphocytes was 46,XY+der(20)t(16;20)(q12.1;p13)pat. The maternal karyotype was unremarkable, whereas the father had the translocation t(16;20)(q12.1;p13). Necropsy confirmed all the prenatal findings. These are discussed together with the implications of the chromosomal diagnosis and the pertinent literature is reviewed.

  1. Hemimegalencephaly: prenatal diagnosis and outcome.

    PubMed

    Alvarez, Rosa María; García-Díaz, Lutgardo; Márquez, Javier; Fajardo, Manuel; Rivas, Eloy; García-Lozano, Juan Carlos; Antiñolo, Guillermo

    2011-01-01

    Hemimegalencephaly (HME) is a developmental abnormality of the central nervous system (CNS) which may present as either a syndromic or isolated case. Here, we present two cases of early prenatal diagnosis of HME. Prenatal CNS ultrasound and MRI in the first case revealed ventricular asymmetry, midline shift with displacement of the occipital lobe across the midline, large dilatation mainly at the posterior horn of the left lateral ventricle, and a head circumference in the 90th percentile without involvement of the brain stem and cerebellum, as well as abdominal lymphangioma. Right hemispherectomy was performed at 3 months of age due to intractable seizures. The pathological specimen showed findings characteristic of HME, including a disorganized cytoarchitecture with lack of neuronal lamination, focal areas of polymicrogyria, and neuronal heterotopias with dysplastic cells. In the second case, 2D and 3D neurosonography demonstrated similar findings (asymmetry of cerebral hemispheres, midline shift, and dilation of the posterior horn of the left lateral cerebral ventricle). Posterior fossa structures were unremarkable. HME was diagnosed and the pregnancy was terminated. Autopsy findings confirmed the diagnosis of HME.

  2. The prenatal care at school program.

    PubMed

    Griswold, Carol H; Nasso, Jacqueline T; Swider, Susan; Ellison, Brenda R; Griswold, Daniel L; Brooks, Marilyn

    2013-06-01

    School absenteeism and poor compliance with prenatal appointments are concerns for pregnant teens. The Prenatal Care at School (PAS) program is a new model of prenatal care involving local health care providers and school personnel to reduce the need for students to leave school for prenatal care. The program combines prenatal care and education designed specifically for adolescents. Twenty-eight girls attended PAS in the fall of 2010. Program evaluation results showed a 14.2% increase in school attendance among students enrolled compared to peers enrolled the previous year, a 5.7% increase over a local teen clinic's attendance to their group prenatal care program, and a 42% increase in pregnancy and childbirth knowledge. Satisfaction surveys indicated that participants all believed that PAS helped prepare them for labor and delivery and 92% felt encouraged to stay in school. This pilot program benefited pregnant teens by increasing school educational time, improving preparation for labor and delivery, and increasing participation with prenatal care. PMID:23144051

  3. Prenatal and pre-implantation genetic diagnosis.

    PubMed

    Vermeesch, Joris Robert; Voet, Thierry; Devriendt, Koenraad

    2016-09-15

    The past decade has seen the development of technologies that have revolutionized prenatal genetic testing; that is, genetic testing from conception until birth. Genome-wide single-cell arrays and high-throughput sequencing analyses are dramatically increasing our ability to detect embryonic and fetal genetic lesions, and have substantially improved embryo selection for in vitro fertilization (IVF). Moreover, both invasive and non-invasive mutation scanning of the genome are helping to identify the genetic causes of prenatal developmental disorders. These advances are changing clinical practice and pose novel challenges for genetic counselling and prenatal care. PMID:27629932

  4. Sonographically-guided extracorporeal shockwave lithotripsy for pancreatic stones in patients with chronic pancreatitis.

    PubMed

    Schreiber, F; Gurakuqi, G C; Pristautz, H; Trauner, M; Schnedl, W

    1996-03-01

    Over a 2 year period, 10 patients with pancreatic stones due to alcohol induced chronic pancreatitis (proven by endoscopic retrograde pancreatography) underwent extracorporeal shockwave lithotripsy. Prior to shockwave therapy, all patients underwent endoscopic sphincterotomy. Targeting of shockwave lithotripsy was exclusively performed under sonographic control. All patients were treated with a second generation electrohydraulic spark gap lithotriptor and fragmentation of concrements could be achieved in all cases. Complete duct clearance was confirmed in seven patients by endoscopic retrograde pancreatography in one session, with endoscopic fragment extraction by basket and/or balloon catheter. In three patients, balloon dilation of concomitant strictures located in the head of the pancreas was performed prior to fragment extraction. All stone-free patients showed no further symptoms over the follow-up period of 12 months. Three patients in whom complete extraction of fragments was not successful experienced minor symptoms over the 12 month follow-up period.

  5. Sonographic Tracking of the Lower Limb Peripheral Nerves: A Pictorial Essay and Video Demonstration.

    PubMed

    Hung, Chen-Yu; Hsiao, Ming-Yen; Özçakar, Levent; Chang, Ke-Vin; Wu, Chueh-Hung; Wang, Tyng-Guey; Chen, Wen-Shiang

    2016-09-01

    Compared with the upper limbs, sonographic tracking of peripheral nerves in the lower limbs is more challenging. The overlying muscles are larger, hindering visualization of the deeply embedded nerves by using a linear transducer. The use of a curvilinear transducer-providing an extended view with better penetration for the field of interest-may be useful for scanning the nerves in the hip and thigh. Application of the Doppler mode helps localization of the target nerve by identifying the accompanying vessels. Aiming to demonstrate the relevant tracking techniques, the present article comprises a series of ultrasound images and videos showing how to scan the nerves in the lower limb, that is, femoral, obturator, pudendal, lateral femoral cutaneous, sciatic, saphenous, sural, tibial, and peroneal nerves.

  6. Transvaginal sonographically controlled ovarian puncture for oocyte retrieval for in vitro fertilization.

    PubMed

    Cohen, J; Debache, C; Pez, J P; Junca, A M; Cohen-Bacrie, P

    1986-10-01

    Two hundred twenty-two patients took part in a trial of follicle puncture via the transvaginal route under sonographic control for the purpose of in vitro fertilization (IVF). Induction protocols were mainly human menopausal gonadotropin (hMG) + human chorionic gonadotropin (hCG) and clomiphene + hMC + hCG. In 79.7% oocyte aspiration could be achieved without difficulty via the transvaginal route. An average number of 4.7 oocytes per attempt was obtained; 10.7% evolutive pregnancies were obtained. No major incident was noted. This technique offers several crucial advantages: it reduces surgical risk, reduces the length of the patient's stay in hospital as well as the overall cost of the procedure, and it also makes possible puncture in some cases hitherto regarded as excluded. PMID:3537171

  7. Cava-suprarenal line: new position for sonographic imaging of left adrenal gland.

    PubMed

    Krebs, C A; Eisenberg, R L; Ratcliff, S; Jouppi, L

    1986-09-01

    Because of overlying attenuating structures, sonographic imaging of the left adrenal gland is often difficult, especially in obese or pediatric patients. In a series of 50 consecutive patients, the left adrenal glands were examined in both the conventional right posterior oblique (RPO) position and using the new cava-suprarenal line (CSL) position. The CSL position permitted identification of the left adrenal gland in 90% of the patients; in contrast, the gland could be demonstrated in only 60% of the patients using the conventional RPO position. With the CSL position, the left adrenal gland could be imaged in half the time required with the conventional RPO position. The improved ability to demonstrate the left adrenal gland as well as the reduction in the required scanning time was particularly marked in obese and pediatric patients.

  8. Prevalence of syphilis in pregnancy and prenatal syphilis testing in Brazil: Birth in Brazil study

    PubMed Central

    Domingues, Rosa Maria Soares Madeira; Szwarcwald, Celia Landmann; Souza, Paulo Roberto Borges; Leal, Maria do Carmo

    2014-01-01

    OBJECTIVE Determine the coverage rate of syphilis testing during prenatal care and the prevalence of syphilis in pregnant women in Brazil. METHODS This is a national hospital-based cohort study conducted in Brazil with 23,894 postpartum women between 2011 and 2012. Data were obtained using interviews with postpartum women, hospital records, and prenatal care cards. All postpartum women with a reactive serological test result recorded in the prenatal care card or syphilis diagnosis during hospitalization for childbirth were considered cases of syphilis in pregnancy. The Chi-square test was used for determining the disease prevalence and testing coverage rate by region of residence, self-reported skin color, maternal age, and type of prenatal and child delivery care units. RESULTS Prenatal care covered 98.7% postpartum women. Syphilis testing coverage rate was 89.1% (one test) and 41.2% (two tests), and syphilis prevalence in pregnancy was 1.02% (95%CI 0.84;1.25). A lower prenatal coverage rate was observed among women in the North region, indigenous women, those with less education, and those who received prenatal care in public health care units. A lower testing coverage rate was observed among residents in the North, Northeast, and Midwest regions, among younger and non-white skin-color women, among those with lower education, and those who received prenatal care in public health care units. An increased prevalence of syphilis was observed among women with < 8 years of education (1.74%), who self-reported as black (1.8%) or mixed (1.2%), those who did not receive prenatal care (2.5%), and those attending public (1.37%) or mixed (0.93%) health care units. CONCLUSIONS The estimated prevalence of syphilis in pregnancy was similar to that reported in the last sentinel surveillance study conducted in 2006. There was an improvement in prenatal care and testing coverage rate, and the goals suggested by the World Health Organization were achieved in two regions. Regional

  9. Ultrasonography of small intestinal inflammatory and neoplastic diseases in dogs and cats.

    PubMed

    Gaschen, Lorrie

    2011-03-01

    Ultrasonography, which has become a mainstay of diagnosing intestinal diseases in dogs and cats, is often one of the first diagnostic tools used to differentiate inflammatory from neoplastic infiltration of the small intestine. Although overlap in the sonographic appearances of inflammatory and neoplastic infiltration make a definitive diagnosis difficult, awareness of features of both diseases is important for the accurate interpretation of the sonographic findings. Full-thickness intestinal biopsy remains the gold standard for differentiating inflammatory from neoplastic disease of the small intestine.

  10. Ground-truthing 6. 5-kHz side scan sonographs: What are we really imaging

    SciTech Connect

    Gardner, J.V.; Field, M.E.; Lee, H.; Edwards, B.E. ); Masson, D.G.; Kenyon, N. ); Kidd, R.B. )

    1991-04-10

    A 1,000-km{sup 2} area on the distal lobe of Monterey Fan shows a digitate pattern of juxtaposed high and low backscatter on GLORIA side scan sonographs. This area was investigated using stereo photography, high-resolution seismic profiles, and measurements of physical properties of cores to quantitatively evaluate the causes of backscatter from the 6.5-kHz side scan sonar. Stereo photography and bottom video were used to determine that the sediment-water interface typically has a bed roughness less than 10 cm over the entire ground truth area; consequently, bed roughness is not a significant contributor to the sonar backscatter. Vertical-incidence 3.5-kHz profiles reveal that high-backscatter areas allow less penetration and have slightly more relief than low-backscatter areas. Closely spaced measurements of {rho} wave velocity, density, and grain size made on transponder-navigated cores are used to investigate the geoacoustic properties of the sediment with the aid of a numerical model. The model results demonstrate that the sediment-water interface is, in most cases, acoustically transparent to the sonar energy and that most or all of the energy is refracted into the sediment to depths of at least a few meters rather than scattered from the surface. In this area, thick (up to 50 cm) sand deposits with thin interbeds of silty clay correlate with lower backscatter than do silty clay deposits with thin interbeds of sand. This suggests that volume inhomogeneities and complex constructive and destructive interferences caused by the subsurface volume inhomogeneities within the top few meters of the sediment ultimately modulate the intensity of backscatter. Although 6.5-kHz sonographs appear easy to interpret in a conventional and simplistic manner, caution should be used when interpreting lithofacies from backscatter intensities.

  11. Prenatal exposure: The effects of prenatal cocaine and methamphetamine exposure on the developing child.

    PubMed

    Smith, Lynne M; Santos, Lucinda S

    2016-06-01

    Prenatal substance use remains a significant issue in the United States. Initial reports regarding prenatal cocaine and methamphetamine exposure suggested profound adverse effects on child development. However, subsequent prospective, longitudinal investigations have found more subtle effects. What follows is a brief review of the health, growth, behavioral, and intellectual outcomes for children exposed to prenatal cocaine and prenatal methamphetamine. Factors that may mitigate or intensify subtle adverse effects manifested in exposed children will also be discussed. Birth Defects Research (Part C) 108:142-146, 2016. © 2016 Wiley Periodicals, Inc. PMID:27345014

  12. Within prisons, is there an association between the quantity of prenatal care and infant birthweight?

    PubMed

    Howard, David L; Strobino, Donna; Sherman, Susan; Crum, Rosa

    2008-07-01

    There is still controversy surrounding the effectiveness of prenatal care in reducing low birthweight. In addition, very few studies have assessed the relationship between prenatal care and infant birthweight among pregnant women within the prison system. We sought to ascertain whether there is an association between the quantity of prenatal care and infant birthweight among pregnant women within such a setting. We examined the prison medical records of 147 infants born to women delivering at term (37-41 weeks of gestation) between 1 January 2002 and 31 December 2004 who were incarcerated during pregnancy in Texas state prisons. Linear regression was used to evaluate the association between the number of prison prenatal care visits and infant birthweight while adjusting for potential confounders (age, gravidity, maternal education, maternal race, history of substance use, history of alcohol use, history of tobacco use and the presence of any chronic disease). We also adjusted for the interaction between the gestational age at admission to prison and the number of prison prenatal care visits. There was a statistically significant 120.5 g increase in adjusted mean birthweight with each additional prison prenatal care visit (P = 0.001) among study infants whose mothers entered prison during the first trimester. This trend was not observed among women who came in after the first trimester. There appears to be a positive association between the amount of prison prenatal care and infant birthweight among incarcerated pregnant women delivering at term, but this association appears to be limited to women entering prison during the first trimester of pregnancy.

  13. Prenatal cannibalism in an insect

    NASA Astrophysics Data System (ADS)

    de Vries, Thomas; Lakes-Harlan, Reinhard

    2007-06-01

    Host selection and infection strategies of parasitoids often correlate with high parental investment and low numbers of progeny. In this study, we investigate how additional internal mechanisms might shape brood size and fitness of the offspring. Emblemasoma auditrix is a parasitoid fly in which about 38 larvae hatch simultaneously in utero. After host location, a single larva is deposited into the host, where it rapidly develops and pupates after about 5 days. The search for hosts can take several weeks, and during that time, the larvae arrest their development and remain in the first larval instar. Nevertheless, the larvae increase in weight within the uterus, and this growth correlates to a decrease in the number of larvae, although no larvae are deposited. Thus, our data indicate a first case of prenatal cannibalism in an invertebrate with larvae feeding on each other within the uterus of the adult.

  14. Prenatal diagnosis of the rare association of common arterial trunk and double aortic arch.

    PubMed

    Rock, Andrea; Eltayeb, Osama; Camarda, Joseph; Gotteiner, Nina

    2016-07-01

    Common arterial trunk with associated double aortic arch is a very rare constellation of congenital heart disease. Prenatal diagnosis allows for surgical repair prior to development of respiratory morbidity, which is otherwise described in all cases with this association. PMID:27386125

  15. Ethical Considerations Relating to Prenatal Diagnosis of Fetuses with Down Syndrome.

    ERIC Educational Resources Information Center

    Pueschel, Siegfried M.

    1991-01-01

    Prenatal diagnostic procedures that can determine the existence of genetic diseases or chromosome disorders such as Down's syndrome are described, and legal considerations are outlined. Arguments for and against aborting fetuses with Down's syndrome are presented, and the need for genetic counseling for prospective parents is emphasized.…

  16. Prenatal Methamphetamine Exposure Linked with Problems

    MedlinePlus

    ... Charts Emerging Trends and Alerts Alcohol Club Drugs Cocaine Hallucinogens Heroin Inhalants Marijuana MDMA (Ecstasy/Molly) Methamphetamine ... a sequence of effects following prenatal exposure to cocaine, a stimulant similar to methamphetamine. Identifying such problems ...

  17. Prenatal Care for the 80s

    PubMed Central

    Mohide, P. T.

    1981-01-01

    Despite improvements in the last decade, Canada's perinatal mortality rate is still higher than those of many other developed countries. Consumer expectations have increased not only for a good outcome, but also a more personal and humane process. The physician has to make a decision to be involved in prenatal care. Appropriate steps are suggested for initial assessment, genetic evaluation, and ongoing prenatal care. PMID:21289752

  18. Steroids in the assessment of prenatal development.

    PubMed Central

    Chamberlain, G.; Kitchin, Y.

    1976-01-01

    Methods for identifying the fetus at risk and monitoring fetal well-being as pregnancy progresses are now an established part of prenatal care in the Western World. In this short review the use of steroids in the assessment of prenatal development is discussed. The metabolism of oestrogens, progestogens, corticosteroids and androgens during pregnancy is outlined and the relative merits, in terms of usefulness and practicability, of urinary and plasma steroid assays are discussed. PMID:792854

  19. [Access to dental care during prenatal assistance].

    PubMed

    dos Santos Neto, Edson Theodoro; Oliveira, Adauto Emmerich; Zandonade, Eliana; Leal, Maria do Carmo

    2012-11-01

    This study sought to evaluate the self-perceived response to dental care during prenatal assistance in the Unified Health System (SUS) in the Metropolitan Region of Vitória, Espírito Santo, Brazil. 1032 postpartum women were interviewed and 1006 prenatal records copied. Postpartum women's self-perceived response was measured by the Oral Health Index Profile-14. When an impact was identified, dental care rendered in educational, preventive and curative terms was considered adequate. When there was no impact, assistance was considered adequate in educational and preventive terms. The Chi-square test revealed an association between prenatal care and dental care. Oral health impact on quality of life was 14.7%. Dental care received by mothers in educational terms was rated at 41.3%, while in preventive terms it was 21% and in curative terms it was 16.6%. Six or more prenatal appointments coupled with educational activities was closely associated with adequate dental care (p < 0.05). Access to dental care is facilitated when pregnant women attend health services and become involved in educational activities during the prenatal period. Consequently, educational measures appear to indicate an improvement in prenatal care in the SUS.

  20. Prenatal diagnosis of 45,X/46,XX

    SciTech Connect

    Hsu, L.Y.F.

    1996-03-01

    I read with great interest the paper on {open_quotes}Prenatal Diagnosis of 45,X/46,XX mosaicism and 45,X: Implications for Postnatal Outcome{close_quotes} by Koeberl et al. They reported their experience with 12 prenatally diagnosed cases of 45,X/46,XX mosaicism and made a clinical comparison between those 12 cases and their own 41 postnatally diagnosed cases of 45,X/46,XX mosaicism. As expected, they found an overall milder phenotypic manifestation in the prenatal cases than in the postnatal ones. These authors report a lack of previous prognostic information on this type of prenatally diagnosis of mosaicism and offer their findings to fill this need. However, considerable information on this topic has been published. There have been >200 prenatally diagnosed cases of 45,X/46,XX. According to my data on 189 cases with a prenatal diagnosis of 45,X/46,XX mosaicism (Hsu 1992), there are 114 cases with available information on phenotypic outcome. Of these, 12 (10.5%) were reported to have some features of Turner syndrome, 4 had other anomalies probably not related to Turner syndrome, and 2 resulted in stillbirth. The overall rate for an abnormal phenotype in this category was thus 16/114 (14.03%). However, we must realize that, even in patients with a nonmosaic 45,X complement, the major features of Turner syndrome, such as short stature and sexual infantilism, are manifested only later in childhood or in adolescence. 3 refs.

  1. Prenatal Programming of Mental Illness: Current Understanding of Relationship and Mechanisms

    PubMed Central

    Bale, Tracy L.; Epperson, C. Neill

    2015-01-01

    The British epidemiologist Dr. David J. Barker documented the relationship between infant birth weight and later onset of hypertension, coronary heart disease, insulin resistance, and type II diabetes. A stressful in utero environment can cause long-term consequences for offspring through prenatal programming. Prenatal programming most commonly occurs through epigenetic mechanisms and can be dependent on the type and timing of exposure as well as the sex of the fetus. In this review, we highlight the most recent evidence that prenatal programming is implicated in the development of psychiatric disorders in offspring exposed to maternal stress during pregnancy. Methodological differences between studies contribute to unavoidable heterogeneity in study findings. Current data suggest that fetal exposure to maternal hypothalamic-pituitary-adrenal axis dysregulation, excessive glucocorticoids, and inflammation with resulting epigenetic changes at both the placental and fetal levels are important areas of continued investigation. PMID:25617041

  2. Prenatal Diagnosis of Isolated Agnathia-Otocephaly: A Case Report and Review of the Literature

    PubMed Central

    Tanemoto, Tomohiro; Nagata, Chie; Okamoto, Aikou

    2016-01-01

    Agnathia is a rare disease characterized by the absence of a mandible. Few cases of prenatally diagnosed isolated agnathia have been reported. We present a case report and review of the literature of prenatally diagnosed agnathia. A 38-year-old woman (gravida 0, para 0) was referred to our hospital at 28 weeks and 3 days of gestation for fetal evaluation because of polyhydramnios and suspected facial anomalies. Three-dimensional ultrasonography and MRI indicated agnathia. Premature rupture of the membranes occurred before the parents could reach a decision on the postnatal treatment. We performed emergency cesarean section on the second day of the 33rd week of gestation. The neonate was deemed nonresuscitable and he died of airway obstruction shortly after birth. Because agnathia is associated with very poor prognosis, accurate prenatal diagnosis and detailed counseling should be promptly provided before unexpected delivery to the parents for the determination of postnatal treatment. PMID:27579201

  3. Prenatal Diagnosis of Isolated Agnathia-Otocephaly: A Case Report and Review of the Literature.

    PubMed

    Kajiwara, Kazuhiro; Tanemoto, Tomohiro; Nagata, Chie; Okamoto, Aikou

    2016-01-01

    Agnathia is a rare disease characterized by the absence of a mandible. Few cases of prenatally diagnosed isolated agnathia have been reported. We present a case report and review of the literature of prenatally diagnosed agnathia. A 38-year-old woman (gravida 0, para 0) was referred to our hospital at 28 weeks and 3 days of gestation for fetal evaluation because of polyhydramnios and suspected facial anomalies. Three-dimensional ultrasonography and MRI indicated agnathia. Premature rupture of the membranes occurred before the parents could reach a decision on the postnatal treatment. We performed emergency cesarean section on the second day of the 33rd week of gestation. The neonate was deemed nonresuscitable and he died of airway obstruction shortly after birth. Because agnathia is associated with very poor prognosis, accurate prenatal diagnosis and detailed counseling should be promptly provided before unexpected delivery to the parents for the determination of postnatal treatment. PMID:27579201

  4. Access Barriers to Prenatal Care in Emerging Adult Latinas.

    PubMed

    Torres, Rosamar

    2016-03-01

    Despite efforts to improve access to prenatal care, emerging adult Latinas in the United States continue to enter care late in their pregnancies and/or underutilize these services. Since little is known about emerging adult Latinas and their prenatal care experiences, the purpose of this study was to identify actual and perceived prenatal care barriers in a sample of 54 emerging adult Latinas between 18 and 21 years of age. More than 95% of the sample experienced personal and institutional barriers when attempting to access prenatal care. Results from this study lend support for policy changes for time away from school or work to attend prenatal care and for group prenatal care.

  5. Normalization of sonographical multifocal nerve enlargements in a MADSAM patient following a good clinical response to intravenous immunoglobulin.

    PubMed

    Tanaka, Kanta; Ota, Natsuko; Harada, Yuzuru; Wada, Ikko; Suenaga, Toshihiko

    2016-09-01

    Focal nerve enlargements at sites of conduction blocks can be visualized sonographically in patients with multifocal acquired demyelinating sensory and motor neuropathy (MADSAM). However, little is known about association between nerve morphological changes and treatment responses. Here we present a 73-year-old female MADSAM patient whose sonographical multifocal nerve enlargements normalized following a good treatment response. She was admitted to our department with progressive asymmetrical muscle weakness and sensory disturbances for 6 months. Ultrasonography revealed multifocal nerve enlargements at sites of electrophysiological demyelination. Intravenous immunoglobulin improved her symptoms and electrophysiological abnormalities. Six months later, ultrasonography revealed normalization of multifocal nerve enlargements. Contrary to our observations, one previous report described a MADSAM patient with persistent nerve enlargements at the sites of resolved conduction blocks. In this earlier patient, however, the time from onset to remission was approximately 30 months. Morphological changes of nerve enlargements in MADSAM may vary with treatment response. PMID:27460345

  6. Discrepancy between sonographic and radiographic values after ultrasound-monitored treatment of developmental dysplasia of the hip

    PubMed Central

    Chita, Claudia; Paulus, Alexander C.; Guenther, Christian; Jansson, Volkmar; Heimkes, Bernhard

    2016-01-01

    Introduction The purpose of the study was to examine the accordance between the actually used sonographic and radiographic standard values after ultrasound-monitored treatment of developmental dysplasia of the hip (DDH). Material and methods One hundred and fifty-three (119 children) ultrasound-monitored treated hips (initial staging according to Graf: type IIc–IV) which attained normal ultrasound findings (type I according to Graf) during treatment and underwent an anteroposterior radiograph of the pelvis at the time of starting walking (mean age 18.6 months) were evaluated retrospectively. Results While all hips showed normal sonographic values (Graf type I), 26 (17%) showed mild and 17 (11.1%) severe dysplasia (by measuring the acetabular index) according to the radiographic Toennis classification system, and 29 (19%) showed mild and 48 (31.4%) severe dysplasia according to the Wiberg centre-edge angle. Conclusions This data show that the actually used sonographic and radiographic standard values concerning DDH do not correlate appropriately. It must be put up for discussion whether the radiographic standard values might be too strict. Further criteria must be developed to better assess the prognosis of residual dysplasia. PMID:26925130

  7. Sonographic assessment of the inferior vena cava/aorta index measured with the transducer placed in the anterior median line and right anterior axillary line – a comparison

    PubMed Central

    Łoś, Magdalena; Szmygel, Łukasz; Kosiak, Wojciech

    2014-01-01

    The aim of the study was to compare the values of the sonographic inferior vena cava/ aorta index obtained with the transducer placed in the median line and right anterior axillary line. Material and methods The study enrolled 45 volunteers, including 33 women, aged 22.5 ± 1.26 with a negative history of circulatory and renal diseases. The study consisted in a sonographic assessment and measurement of the inferior vena cava and aorta by placing the transducer in the anterior median line and right anterior axillary line. The value of the inferior vena cava/aorta index was obtained by calculating the ratio of the diameters of the inferior vena cava and aorta. The diameter measurements were taken by placing the ultrasound transducer in the anterior median line and right anterior axillary line. Two examiners performed the measurement three times and used convex probes of 3.5–5 MHz. Additionally, the subjects’ weight, height and arterial blood pressure were taken. Results Following a statistical analysis with the use of STATISTICA software, the following values of the inferior vena cava/aorta index were obtained: in the anterior median line – 1.43 ± 0.21, and in the right anterior axillary line – 1.285 ± 0.19. There was no statistically significant difference between the measurements obtained by the two examiners (p = 0.17). A strong correlation was noted between the inferior vena cava/ aorta indices calculated in both sites of transducer placement, which was irrespective of the examiners (the correlation coefficient: r = 0.61 and r = 0.71). The study indicate that the inferior vena cava/aorta index measured in the right anterior axillary line is a simple and reproducible method for determining the body fluid status; the examinations conducted in both sites may be used interchangeably. Further studies are needed to determine reference values for the inferior vena cava/aorta index measured in the right anterior axillary line. PMID:26674356

  8. Prenatal stress and brain development.

    PubMed

    Charil, Arnaud; Laplante, David P; Vaillancourt, Cathy; King, Suzanne

    2010-10-01

    Prenatal stress (PS) has been linked to abnormal cognitive, behavioral and psychosocial outcomes in both animals and humans. Animal studies have clearly demonstrated PS effects on the offspring's brain, however, while it has been speculated that PS most likely affects the brains of exposed human fetuses as well, no study has to date examined this possibility prospectively using an independent stressor (i.e., a stressful event that the pregnant woman has no control over, such as a natural disaster). The aim of this review is to summarize the existing animal literature by focusing on specific brain regions that have been shown to be affected by PS both macroscopically and microscopically. These regions include the hippocampus, amygdala, corpus callosum, anterior commissure, cerebral cortex, cerebellum and hypothalamus. We first discuss the mechanisms by which the effects of PS might occur. In particular, we show that maternal and fetal hypothalamic-pituitary-adrenal (HPA) axes, and the placenta, are the most likely candidates for these mechanisms. We see that, although animal studies have obvious advantages over human studies, the integration of findings in animals and the transfer of these findings to human populations remains a complex issue. Finally, we show how it is possible to circumvent these challenges by studying the effects of PS on brain development directly in humans, by taking advantage of natural or man-made disasters and assessing the impact and consequences of such stressful events on pregnant women and their offspring prospectively.

  9. [Prenatal diagnosis of choledochal cyst].

    PubMed

    Hernández Herrera, Ricardo Jorge; Flores Santos, Roberto; Hinojosa Salinas, Adán; Ramos González, René; Ramírez González, Beatriz

    2013-02-01

    The choledocal cyst is a defect of the biliary extrahepatic route, the incidence is 1 in 100-150,000 newborns. This paper reports the case of a female newborn with choledocal cyst detected prenatally, from a 32-year-old mother, 2nd term pregnancy, who was diagnosed in the routine obstetric ultrasound as an abdominal fetal cyst. An anatomic obstetric ultrasound confirmed the diagnosis that was defined of a probable hepatic origin. Newborn was delivered at 39 weeks by caesarean section, with weight of 3,980 g and Apgar score 9-9 in conventional time. Newborn presented a maxim bilirubin level of 16 mg, controlled with phototherapy; the hepatic function was normal. Ultrasound showed a choledocal cyst which measured 50 x 49 x 48 mm, with dilatation of the hepatic common conduct, the gall bladder was normal. The abdominal scan reported a cystic mass in the middle abdominal region of 44 x 53 x 52 mm confirming a choledocal cyst. The diagnosis was confirmed after surgery. Patient had a satisfactory post-surgical evolution. PMID:23596735

  10. Impact of a high-phosphorus diet on the sonographic and CT appearance of kidneys in degus, and possible concurrence with dental problems.

    PubMed

    Gumpenberger, M; Jeklova, E; Skoric, M; Hauptman, K; Stehlik, L; Dengg, S; Jekl, V

    2012-02-11

    The main aim of this study was to investigate the impact of pelleted diet of different mineral composition on the sonographic and CT appearance of kidneys in degus (Octodon degus). A total of 35 animals were randomly divided into five groups, fed diets containing different calcium and phosphorus contents (13.5 g/kg calcium and 6.3 g/kg phosphorus, or 9.1 g/kg calcium and 9.5 g/kg phosphorus) and given different amounts of exposure to UV light. Endoscopic examination of the oral cavity as well as renal ultrasonography and CT was performed four times at four-month intervals throughout the study. After 14 months of feeding an experimental diet, all degus were euthanased and subsequently all kidneys were collected for histopathological examination. Animals fed a diet with high dietary phosphate and improper calcium to phosphorus ratio showed severe nephrocalcinosis. Ultrasonographic and CT kidney abnormalities presented as hyperechogenicity and hyperdensity (interpreted as nephrocalcinosis), respectively. The most striking changes were seen at the corticomedullary zone. Ultrasonography and CT correlated in all cases with histopathological findings. Dental disease developed quickly in groups fed diets with an improper calcium and phosphorus content, with obvious apical and coronal elongation of all the teeth. A possible influence of UV light access could not be proved in this study.

  11. The Prevalence of and Risk Factors Associated with Musculoskeletal Disorders among Sonographers in Central China: A Cross-Sectional Study

    PubMed Central

    Feng, Qingmin; Liu, Shenglin; Yang, Lei; Xie, Mingxing

    2016-01-01

    Objective Studies from industrialized countries show that musculoskeletal disorders (MSD) occur commonly in sonographers. However, little is known about sonographers in China, where the awareness of ergonomics and MSD, workload, and available equipment/facilities may differ. We aimed to investigate the prevalence of MSD and associated risk factors in sonographers in central China. Methods A cross-sectional survey was conducted with 381 sonographers from 14 randomly selected tertiary hospitals in Hubei province, central China. Musculoskeletal symptoms (using the Nordic Questionnaire) and risk factors (mostly derived from the Health Benefit Trust survey instrument and the Dutch Musculoskeletal Questionnaire) were recorded. Multivariate logistic regression was used to quantify associations between risk factors and MSD. Results The 12-month period prevalence of MSD was 98.3%, being highest in the neck (93.5%) and shoulder (92.2%), followed by the lower back (83.2%), wrist/hand, upper back, and elbow. Factors contributing to neck pain were psychological fatigue, shoulder abduction and trunk bend-and-twist posture. Height-adjustable tables and chairs were protective factors. Shoulder pain was associated with female sex, health status, mental stress, shoulder abduction, and trunk bend-and-twist posture. Height-adjustable chairs and the awareness of adjusting the workstation before scanning were protective factors. Elbow pain was associated with health status and height-adjustable tables. Wrist/hand pain was associated with female sex, bending the wrist, and working with obese patients. Upper back pain was associated with shoulder abduction, height-adjustable chairs, and device location. Lower back pain was associated with the number of scans performed per day, awkward postures, bending the trunk, twisting or bending the neck forward, and using a footrest. Conclusions This study suggests a high prevalence of MSD in sonographers in central China. Hence, it is necessary to

  12. Prenatal x-ray exposure and childhood cancer in twins

    SciTech Connect

    Harvey, E.B.; Boice, J.D. Jr.; Honeyman, M.; Flannery, J.T.

    1985-02-28

    A case-control study was conducted to investigate the relation between prenatal exposure to x-rays and childhood cancer, including leukemia, in over 32,000 twins born in Connecticut from 1930 to 1969. Twins as opposed to single births were chosen for study to reduce the likelihood of medical selection bias, since twins were often exposed to x-rays to diagnose the twin pregnancy or to determine fetal positioning before delivery and not because of medical conditions that may conceivably pre-dispose to cancer. Each of 31 incident cases of cancer, identified by linking the Connecticut twin and tumor registries, was matched with four twin controls according to sex, year of birth, and race. Records of hospitals, radiologists, and private physicians were searched for histories of x-ray exposure and other potentially important risk factors. Documented prenatal x-ray exposures were found for 39 per cent of the cases (12 of 31) and for 26 per cent of the controls (28 of 109). No other pregnancy, delivery, or maternal conditions were associated with cancer risk except low birth weight: 38 per cent of the cases as compared with 25 per cent of the controls weighed under 2.27 kg at birth. When birth weight was adjusted for, twins in whom leukemia or other childhood cancer developed were twice as likely to have been exposed to x-rays in utero as twins who were free of disease (relative risk, 2.4; 95 per cent confidence interval, 1.0 to 5.9). The results, though based on small numbers, provide further evidence that low-dose prenatal irradiation may increase the risk of childhood cancer.

  13. Congenital toxoplasmosis and prenatal care state programs

    PubMed Central

    2014-01-01

    Background Control programs have been executed in an attempt to reduce vertical transmission and the severity of congenital infection in regions with a high incidence of toxoplasmosis in pregnant women. We aimed to evaluate whether treatment of pregnant women with spiramycin associated with a lack of monitoring for toxoplasmosis seroconversion affects the prognosis of patients. Methods We performed a prospective cohort study with 246 newborns (NB) at risk for congenital toxoplasmosis in Goiânia (Brazil) between October 2003 and October 2011. We analyzed the efficacy of maternal treatment with spiramycin. Results A total of 40.7% (66/162) of the neonates were born seriously infected. Vertical transmission associated with reactivation during pregnancy occurred in 5.5% (9/162) of the NB, with one showing severe infection (systemic). The presence of specific immunoglobulins (fetal IgM and NB IgA) suggested the worst prognosis. Treatment of pregnant women by spiramycin resulted in reduced vertical transmission. When infected pregnant women did not undergo proper treatment, the risk of severe infection (neural-optical) in NB was significantly increased. Fetal IgM was associated with ocular impairment in 48.0% (12/25) of the fetuses and neonatal IgA-specific was related to the neuro-ophthalmologic and systemic forms of the disease. When acute toxoplasmosis was identified in the postpartum period, a lack of monitoring of seronegative pregnant women resulted in a higher risk of severe congenital infection. Conclusion Treatment of pregnant women with spiramycin reduces the possibility of transmission of infection to the fetus. However, a lack of proper treatment is associated with the onset of the neural-optical form of congenital infection. Primary preventive measures should be increased for all pregnant women during the prenatal period and secondary prophylaxis through surveillance of seroconversion in seronegative pregnant woman should be introduced to reduce the

  14. Outcome of isolated fetal choroid plexus cyst detected in prenatal sonography among infertile patients referred to Royan Institute: A 3-year study

    PubMed Central

    Irani, Shohreh; Ahmadi, Firoozeh; Javam, Maryam; Vosough Taghi dizaj, Ahmad; Niknejad, Fatemeh

    2015-01-01

    Background: Several studies have assessed the correlation of fetal choroid plexus cyst (CPC) and the risk of congenital anomalies, but few ones have discussed isolated CPC (with no other abnormal sonographic finding). Objective: The aim of this study was to determine the outcome of isolated fetal choroid plexus cyst and to specify its clinical significance. Materials and Methods: This cross sectional study was carried out at Royan Institute in Tehran, Iran, between April 2009 and December 2012. All prenatal sonographies in this period of time were assessed using a computerized database and fetuses who had isolated CPC were recruited in the study. Sonography reports, mother serum screening test results, fetal echocardiography and amniocentesis were evaluated until birth. A follow-up phone call was made to all individuals to learn about the neonatal outcomes. Results: Overall, 6240 prenatal sonographies were performed in this setting during this period. Isolated CPC was detected in 64 fetuses. The results of double test (N=30), triple test (N=5) and fetal echocardiography (N =24) were normal. Quadruple test result showed 3 abnormal out of 29 cases that all had normal karyotypes. Four samples were dropped out due to premature rupture of membranes (N=3) and intrauterine fetal death (N=1). It was found that the outcomes of all remaining fetuses (N=60) were normal and no anomaly ones were seen until birth. Conclusion: Isolated CPC is a benign regressive condition with no clinical significance. PMID:26568762

  15. Paraoxonase 1 Polymorphism and Prenatal Pesticide Exposure Associated with Adverse Cardiovascular Risk Profiles at School Age

    PubMed Central

    Andersen, Helle R.; Wohlfahrt-Veje, Christine; Dalgård, Christine; Christiansen, Lene; Main, Katharina M.; Nellemann, Christine; Murata, Katsuyuki; Jensen, Tina K.; Skakkebæk, Niels E.; Grandjean, Philippe

    2012-01-01

    Background Prenatal environmental factors might influence the risk of developing cardiovascular disease later in life. The HDL-associated enzyme paraoxonase 1 (PON1) has anti-oxidative functions that may protect against atherosclerosis. It also hydrolyzes many substrates, including organophosphate pesticides. A common polymorphism, PON1 Q192R, affects both properties, but a potential interaction between PON1 genotype and pesticide exposure on cardiovascular risk factors has not been investigated. We explored if the PON1 Q192R genotype affects cardiovascular risk factors in school-age children prenatally exposed to pesticides. Methods Pregnant greenhouse-workers were categorized as high, medium, or not exposed to pesticides. Their children underwent a standardized examination at age 6-to-11 years, where blood pressure, skin folds, and other anthropometric parameters were measured. PON1-genotype was determined for 141 children (88 pesticide exposed and 53 unexposed). Serum was analyzed for insulin-like growth factor I (IGF-I), insulin-like growth factor binding protein 3 (IGFBP3), insulin and leptin. Body fat percentage was calculated from skin fold thicknesses. BMI results were converted to age and sex specific Z-scores. Results Prenatally pesticide exposed children carrying the PON1 192R-allele had higher abdominal circumference, body fat content, BMI Z-scores, blood pressure, and serum concentrations of leptin and IGF-I at school age than unexposed children. The effects were related to the prenatal exposure level. For children with the PON1 192QQ genotype, none of the variables was affected by prenatal pesticide exposure. Conclusion Our results indicate a gene-environment interaction between prenatal pesticide exposure and the PON1 gene. Only exposed children with the R-allele developed adverse cardiovascular risk profiles thought to be associated with the R-allele. PMID:22615820

  16. Research and Practice Communications Between Oral Health Providers and Prenatal Health Providers: A Bibliometric Analysis.

    PubMed

    Skvoretz, John; Dyer, Karen; Daley, Ellen; Debate, Rita; Vamos, Cheryl; Kline, Nolan; Thompson, Erika

    2016-08-01

    Objectives We aimed to examine scholarly collaboration between oral health and prenatal providers. Oral disease is a silent epidemic with significant public health implications for pregnant women. Evidence linking poor oral health during pregnancy to adverse pregnancy and birth outcomes requires oral health and prenatal providers to communicate on the prevention, treatment and co-management matters pertaining to oral health issues among their pregnant patients. The need for inter-professional collaboration is highlighted by guidelines co-endorsed by the American College of Obstetricians and Gynecologists and the American Dental Association, stressing the importance of oral health care during pregnancy. Methods To assess if interdisciplinary communication occurs between oral health and prenatal disciplines, we conducted a network analysis of research on pregnancy-related periodontal disease. Results Social Network analysis allowed us to identify communication patterns between communities of oral health and prenatal professionals via scientific journals. Analysis of networks of citations linking journals in different fields reveals a core-periphery pattern dominated by oral health journals with some participation from medicine journals. However, an analysis of dyadic ties of citation reveals statistically significant "inbreeding" tendencies in the citation patterns: both medical and oral health journals tend to cite their own kind at greater-than-chance levels. Conclusions Despite evidence suggesting that professional collaboration benefits patients' overall health, findings from this research imply that little collaboration occurs between these two professional groups. More collaboration may be useful in addressing women's oral-systemic health concerns that result in adverse pregnancy outcomes.

  17. GLORIA II Sonograph Mosaic of the Western U.S. Exclusive Economic Zone

    NASA Astrophysics Data System (ADS)

    Cacchione, D. A.; Drake, D. E.; Edwards, B.; Field, M.; Gardner, J.; Hampton, M.; Karl, H.; McCulloch, D.; Kenyon, N.; Masson, D.

    In 1983 the United States declared sovereign rights and jurisdiction over living and nonliving resources in an area extending 200 nautical miles (370 km) seaward from its shores. In response to the establishment of this Exclusive Economic Zone (EEZ), the U.S. Geological Survey (USGS) has implemented a program, called EEZ-Scan, to systematically map the EEZ, using the Geological Long- Range Inclined ASDIC (GLORIA) II longrange side scan sonar system developed by the Institute of Oceanographic Sciences (IOS) of Great Britain [Somers et al, 1978]. The first part of the EEZ-Scan field program was completed in the summer of 1984, when USGS and IOS scientists surveyed the EEZ off the western conterminous United States aboard the British research vessel Farnella (Figure 1). The west coast survey, requiring 96 days of ship time and four separate legs, has resulted in virtually total sonograph coverage of the sea floor from the continental shelf break to the 200-nautical mile limit between the Mexican and Canadian borders, an area of about 850,000 km2 . Other data collected on the cruises included two-channel digital seismic reflection and 3.5-kHz highresolution and 10-kHz bathymetric profiles, as well as towed magnetometer data along approximately 20,000 km of trackline spaced nominally at 30-km intervals.

  18. Solo Sonographically Guided PCNL under Spinal Anesthesia: Defining Predictors of Success.

    PubMed

    Nouralizadeh, Akbar; Pakmanesh, Hamid; Basiri, Abbas; Aayanifard, Mohammad; Soltani, Mohammad Hossein; Tabibi, Ali; Sharifiaghdas, Farzaneh; Ziaee, Seyed Amir Mohsen; Shakhssalim, Naser; Valipour, Reza; Narouie, Behzad; Radfar, Mohammad Hadi

    2016-01-01

    Aim. Sonography has been brought in percutaneous nephrolithotripsy (PCNL) as an adjunct to or substitute for X-ray to restrict radiation exposure. This study was designed to investigate the possible predictors for the success of the solo sonographically guided PCNL. Methods. 148 consecutive cases were prospectively enrolled. All steps of PCNL were performed solely with sonography guidance under spinal anesthesia. Residual stones were evaluated the day after surgery using sonography and plain radiography. Results. The mean age was 46 ± 15 years; 40% of kidneys had hydronephrosis. The mean stone burden was 504 ± 350 mm(2). The mean duration of surgery was 43 ± 21 minutes. The early stone-free rate was 92% in inferior or middle calyceal stones, 89.5% in single pelvic stones, 81.5% in partial staghorn stones, and 61.9% in staghorn stones. The mean residual stone size was 13 ± 8 mm. Logistic regression showed that a lower age and a larger stone burden significantly predicted positive residual stones. Fifteen percent of patients presented with grade I or II and six percent showed grade III complication based on Clavien classification. There was no cases of organ injury or death. Conclusion. Solo ultrasonographically guided PCNL under spinal anesthesia is feasible with an acceptable stone-free rate and complication rate.

  19. Use of sonographic elastography of the masseter muscles for optimizing massage pressure: a preliminary study.

    PubMed

    Ariji, Y; Katsumata, A; Hiraiwa, Y; Izumi, M; Iida, Y; Goto, M; Sakuma, S; Ogi, N; Kurita, K; Ariji, E

    2009-09-01

    To examine the stiffness of the masseter muscle using sonographic elastography and to investigate its relationship with the most comfortable massage pressure in the healthy volunteers. In 16 healthy volunteers (10 men and 6 women), the Masseter Stiffness Index (MSI) was measured using EUB-7000 real-time tissue elastography. They underwent massages at three kinds of pressures using the Oral Rehabilitation Robot (WAO-1). A subjective evaluation regarding the comfort of each massage was recorded on the visual analogue scale. Elastography was also performed in two patients with temporomandibular joint dysfunction with the myofascial pain. The mean MSI of the right and left muscles in the healthy volunteers were 0.85 +/- 0.44 and 0.74 +/- 0.35 respectively. There was no significant difference between the right and left MSI in the healthy volunteers. The MSI was related to massage pressure at which the healthy men felt most comfortable. The two temporomandibular disorder patients had a large laterality in the MSI. The MSI was related to the most comfortable massage pressure in the healthy men. The MSI can be one index for determining the massage pressure. PMID:19602100

  20. Sonographic monitoring of LHRH analogue therapy in idiopathic precocious puberty in young girls.

    PubMed

    Hall, D A; Crowley, W F; Wierman, M E; Simeone, J F; McCarthy, K A

    1986-06-01

    Precocious puberty in young girls is defined as the development of secondary sexual characteristics and gonadal growth before 8 years of age. Approximately 60% of isosexual precocious development in girls has no organic cause and is termed idiopathic precocious puberty. Thirteen young girls with idiopathic precocious puberty were treated with LHRH analogue under a well-established protocol. Pelvic ultrasound was added to the protocol to examine ultrasound's role in supplying a morphologic parameter of suppression of the pubertal process. Initially, 11 patients had ovarian volumes greater than normal, and ovarian cysts measuring 0.5 cm to 4 cm in diameter were identified in seven patients. All 13 patients had enlarged pretreatment uteri greater than 3 cm in length. Eleven of these patients had a pubertal or adult uterine configuration. After 1 year of therapy, 11 patients had normal prepubertal ovarian volumes, and 12 of 13 patients had a decrease in ovarian volume. No demonstrable cysts were present at 1 year. Eleven had a reduction in uterine length. Nine of the 11 patients with a pubertal uterine configuration reverted to a more prepubertal-like morphology. The sonographic morphologic changes correlated well with laboratory and clinical data indicating suppression of the hypothalamic-pituitary-gonadal axis.

  1. Solo Sonographically Guided PCNL under Spinal Anesthesia: Defining Predictors of Success

    PubMed Central

    Nouralizadeh, Akbar; Pakmanesh, Hamid; Basiri, Abbas; Aayanifard, Mohammad; Soltani, Mohammad Hossein; Tabibi, Ali; Sharifiaghdas, Farzaneh; Ziaee, Seyed Amir Mohsen; Shakhssalim, Naser; Valipour, Reza; Narouie, Behzad; Radfar, Mohammad Hadi

    2016-01-01

    Aim. Sonography has been brought in percutaneous nephrolithotripsy (PCNL) as an adjunct to or substitute for X-ray to restrict radiation exposure. This study was designed to investigate the possible predictors for the success of the solo sonographically guided PCNL. Methods. 148 consecutive cases were prospectively enrolled. All steps of PCNL were performed solely with sonography guidance under spinal anesthesia. Residual stones were evaluated the day after surgery using sonography and plain radiography. Results. The mean age was 46 ± 15 years; 40% of kidneys had hydronephrosis. The mean stone burden was 504 ± 350 mm2. The mean duration of surgery was 43 ± 21 minutes. The early stone-free rate was 92% in inferior or middle calyceal stones, 89.5% in single pelvic stones, 81.5% in partial staghorn stones, and 61.9% in staghorn stones. The mean residual stone size was 13 ± 8 mm. Logistic regression showed that a lower age and a larger stone burden significantly predicted positive residual stones. Fifteen percent of patients presented with grade I or II and six percent showed grade III complication based on Clavien classification. There was no cases of organ injury or death. Conclusion. Solo ultrasonographically guided PCNL under spinal anesthesia is feasible with an acceptable stone-free rate and complication rate. PMID:27242949

  2. Sonographic detection of a foreign body in the urethra and urinary bladder.

    PubMed

    Barzilai, M; Cohen, I; Stein, A

    2000-01-01

    Reported herein is a 41-year-old male who presented for ultrasound due to two episodes of lower urinary tract infections within a period of 5 months. The sonographic examination revealed an elongated foreign body in the urethra extending into the urinary bladder. Self-insertion of foreign bodies into the urethra is usually done for erotic stimulation. However, foreign bodies can be inserted by children due to curiosity and by mentally retarded people, patients with psychiatric disorders as well as by intoxicated patients and in confusional states. Due to embarrassment, the patients seek medical help only when they are symptomatic and hence some of the foreign bodies are removed only several months after insertion. Detection might be either by plain abdominal films when the foreign bodies are radiopaque or by the use of contrast media. In the case presented by us, this was done by sonography. Endoscopic removal of these foreign bodies is considered the treatment of choice. Recurrent or chronic unexplained urinary tract infections should raise a high index of suspicion to the possible existence of a foreign body in the urethra and/or urinary bladder. PMID:10859554

  3. Comparison of Perineal Sonographically Measured and Functional Urodynamic Urethral Length in Female Urinary Incontinence

    PubMed Central

    Janetzki, Nadine; Kennes, Lieven; Stickeler, Elmar; Serno, Julia; Behrendt, Julia

    2016-01-01

    Objectives. To detect the anatomical insufficiency of the urethra and to propose perineal ultrasound as a useful, noninvasive tool for the evaluation of incontinence, we compared the anatomical length of the urethra with the urodynamic functional urethral length. We also compared the urethral length between continent and incontinent females. Methods. 149 female patients were enrolled and divided into four groups (stress, urge, or mixed incontinence; control). Sonographically measured urethral length (SUL) and urodynamic functional urethral length (FUL) were analyzed statistically. Standardized and internationally validated incontinence questionnaire ICIQ-SF results were compared between each patient group. Results. Perineal SUL was significantly longer in incontinent compared to continent patients (p < 0.0001). Pairwise comparison of each incontinent type (stress, urge, or mixed incontinence) with the control group showed also a significant difference (p < 0.05). FUL was significantly shorter in incontinent patients than in the control group (p = 0.0112). But pairwise comparison showed only a significant difference for the stress incontinence group compared with the control group (p = 0.0084) and not for the urge or mixed incontinent group. No clear correlation between SUL, FUL, and ICIQ-SF score was found. Conclusions. SUL measured by noninvasive perineal ultrasound is a suitable parameter in the assessment of female incontinence, since incontinent women show a significantly elongated urethra as a sign of tissue insufficiency, independent of the type of incontinence.

  4. Solo Sonographically Guided PCNL under Spinal Anesthesia: Defining Predictors of Success.

    PubMed

    Nouralizadeh, Akbar; Pakmanesh, Hamid; Basiri, Abbas; Aayanifard, Mohammad; Soltani, Mohammad Hossein; Tabibi, Ali; Sharifiaghdas, Farzaneh; Ziaee, Seyed Amir Mohsen; Shakhssalim, Naser; Valipour, Reza; Narouie, Behzad; Radfar, Mohammad Hadi

    2016-01-01

    Aim. Sonography has been brought in percutaneous nephrolithotripsy (PCNL) as an adjunct to or substitute for X-ray to restrict radiation exposure. This study was designed to investigate the possible predictors for the success of the solo sonographically guided PCNL. Methods. 148 consecutive cases were prospectively enrolled. All steps of PCNL were performed solely with sonography guidance under spinal anesthesia. Residual stones were evaluated the day after surgery using sonography and plain radiography. Results. The mean age was 46 ± 15 years; 40% of kidneys had hydronephrosis. The mean stone burden was 504 ± 350 mm(2). The mean duration of surgery was 43 ± 21 minutes. The early stone-free rate was 92% in inferior or middle calyceal stones, 89.5% in single pelvic stones, 81.5% in partial staghorn stones, and 61.9% in staghorn stones. The mean residual stone size was 13 ± 8 mm. Logistic regression showed that a lower age and a larger stone burden significantly predicted positive residual stones. Fifteen percent of patients presented with grade I or II and six percent showed grade III complication based on Clavien classification. There was no cases of organ injury or death. Conclusion. Solo ultrasonographically guided PCNL under spinal anesthesia is feasible with an acceptable stone-free rate and complication rate. PMID:27242949

  5. Prenatal maternal anxiety and early childhood temperament.

    PubMed

    Blair, Megan M; Glynn, Laura M; Sandman, Curt A; Davis, Elysia Poggi

    2011-11-01

    The consequences of exposure to prenatal maternal anxiety for the development of child temperament were examined in a sample of 120 healthy, 2-year-old children. Prenatal maternal state and pregnancy-specific anxiety (PSA) were measured five times during pregnancy, and maternal state anxiety was measured again at 2 years post partum. Child temperament was measured at 2 years using the Early Childhood Behavior Questionnaire. The relationship between the trajectory of maternal anxiety across gestation and negative affectivity was evaluated using hierarchical linear growth curve modeling. Higher maternal PSA between 13 and 17 weeks of gestation was associated with increased negative temperament in the children. This association could not be explained by postnatal maternal anxiety, demographic, or obstetric factors. Prenatal maternal state anxiety was not associated with child temperament. These findings demonstrate that PSA early in gestation has a distinctive influence on the developing fetus.

  6. Prenatal diagnosis of X-linked recessive Lenz microphthalmia syndrome.

    PubMed

    Suzumori, Nobuhiro; Kaname, Tadashi; Muramatsu, Yukako; Yanagi, Kumiko; Kumagai, Kyoko; Mizuno, Seiji; Naritomi, Kenji; Saitoh, Shinji; Sugiura-Ogasawara, Mayumi

    2013-11-01

    Lenz microphthalmia syndrome comprises microphthalmia-anophthalmia with mental retardation, malformed ears and skeletal anomalies, and is inherited in an X-linked recessive pattern. In 2004, it was reported that the missense mutation (BCL-6 co-repressor gene [BCOR] c.254C>T, p.P85L) in a single family with Lenz microphthalmia syndrome co-segregated with the disease phenotype. We report a case of prenatal diagnosis for X-linked recessive Lenz microphthalmia syndrome with the mutation. A 32-year-old gravida 5, para 2 Japanese woman was referred to Nagoya City University Hospital at 15 weeks of gestation. After genetic counseling and informed consent, amniocentesis was performed for fetal karyotyping, which was 46,XY. Using the extracted DNA from cultured amniotic cells, fetal search for BCOR c.254C>T mutation was undertaken. The couple requested medical termination of pregnancy, and the postabortion examination confirmed the diagnosis. This is the third report of a BCOR mutation, associated with X-linked syndromic microphthalmia, and most importantly, it is always the same mutation. The prenatal genetic diagnosis of the Lenz microphthalmia syndrome allowed time for parental counseling and delivery planning.

  7. Prenatal testosterone excess reduces sperm count and motility.

    PubMed

    Recabarren, Sergio E; Rojas-García, Pedro P; Recabarren, Mónica P; Alfaro, Victor H; Smith, Rosita; Padmanabhan, Vasantha; Sir-Petermann, Teresa

    2008-12-01

    The reproductive system is extremely susceptible to insults from exposure to exogenous steroids during development. Excess prenatal testosterone exposure programs neuroendocrine, ovarian, and metabolic deficits in the female, features seen in women with polycystic ovary disease. The objective of this study was to determine whether prenatal testosterone excess also disrupts the male reproductive system, using sheep as a model system. The extent of reproductive disruption was tested by assessing sperm quantity and quality as well as Leydig cell responsiveness to human chorionic gonadotropin. Males born to mothers treated with 30 mg testosterone propionate twice weekly from d 30 to 90 and with 40 mg testosterone propionate from d 90 to 120 of pregnancy (T-males) showed a significant reduction (P < 0.05) in body weight, scrotal circumference, and sperm count compared with control males. Mean straight line velocity of sperms was also lower in T-males (P < 0.05). Circulating testosterone levels in response to the human chorionic gonadotropin did not differ between groups. These findings demonstrate that exposure to excess testosterone during fetal development has a negative impact on reproductive health of the male offspring, raising concerns relative to unintended human exposure to steroidal mimics in the environment.

  8. Prenatal diagnosis of X-linked recessive Lenz microphthalmia syndrome.

    PubMed

    Suzumori, Nobuhiro; Kaname, Tadashi; Muramatsu, Yukako; Yanagi, Kumiko; Kumagai, Kyoko; Mizuno, Seiji; Naritomi, Kenji; Saitoh, Shinji; Sugiura-Ogasawara, Mayumi

    2013-11-01

    Lenz microphthalmia syndrome comprises microphthalmia-anophthalmia with mental retardation, malformed ears and skeletal anomalies, and is inherited in an X-linked recessive pattern. In 2004, it was reported that the missense mutation (BCL-6 co-repressor gene [BCOR] c.254C>T, p.P85L) in a single family with Lenz microphthalmia syndrome co-segregated with the disease phenotype. We report a case of prenatal diagnosis for X-linked recessive Lenz microphthalmia syndrome with the mutation. A 32-year-old gravida 5, para 2 Japanese woman was referred to Nagoya City University Hospital at 15 weeks of gestation. After genetic counseling and informed consent, amniocentesis was performed for fetal karyotyping, which was 46,XY. Using the extracted DNA from cultured amniotic cells, fetal search for BCOR c.254C>T mutation was undertaken. The couple requested medical termination of pregnancy, and the postabortion examination confirmed the diagnosis. This is the third report of a BCOR mutation, associated with X-linked syndromic microphthalmia, and most importantly, it is always the same mutation. The prenatal genetic diagnosis of the Lenz microphthalmia syndrome allowed time for parental counseling and delivery planning. PMID:23815237

  9. Prenatal exposure to thalidomide, altered vasculogenesis, and CNS malformations.

    PubMed

    Hallene, K L; Oby, E; Lee, B J; Santaguida, S; Bassanini, S; Cipolla, M; Marchi, N; Hossain, M; Battaglia, G; Janigro, D

    2006-09-29

    Malformations of cortical development (MCD) result from abnormal neuronal positioning during corticogenesis. MCD are believed to be the morphological and perhaps physiological bases of several neurological diseases, spanning from mental retardation to autism and epilepsy. In view of the fact that during development, an appropriate blood supply is necessary to drive organogenesis in other organs, we hypothesized that vasculogenesis plays an important role in brain development and that E15 exposure in rats to the angiogenesis inhibitor thalidomide would cause postnatal MCD. Our results demonstrate that thalidomide inhibits angiogenesis in vitro at concentrations that result in significant morphological alterations in cortical and hippocampal regions of rats prenatally exposed to this vasculotoxin. Abnormal neuronal development was associated with vascular malformations and a leaky blood-brain barrier. Protein extravasation and uptake of fluorescent albumin by neurons, but not glia, was commonly associated with abnormal cortical development. Neuronal hyperexcitability was also a hallmark of these abnormal cortical regions. Our results suggest that prenatal vasculogenesis is required to support normal neuronal migration and maturation. Altering this process leads to failure of normal cerebrovascular development and may have a profound implication for CNS maturation.

  10. EMQN Best Practice Guidelines for molecular and haematology methods for carrier identification and prenatal diagnosis of the haemoglobinopathies.

    PubMed

    Traeger-Synodinos, Joanne; Harteveld, Cornelis L; Old, John M; Petrou, Mary; Galanello, Renzo; Giordano, Piero; Angastioniotis, Michael; De la Salle, Barbara; Henderson, Shirley; May, Alison

    2015-04-01

    Haemoglobinopathies constitute the commonest recessive monogenic disorders worldwide, and the treatment of affected individuals presents a substantial global disease burden. Carrier identification and prenatal diagnosis represent valuable procedures that identify couples at risk for having affected children, so that they can be offered options to have healthy offspring. Molecular diagnosis facilitates prenatal diagnosis and definitive diagnosis of carriers and patients (especially 'atypical' cases who often have complex genotype interactions). However, the haemoglobin disorders are unique among all genetic diseases in that identification of carriers is preferable by haematological (biochemical) tests rather than DNA analysis. These Best Practice guidelines offer an overview of recommended strategies and methods for carrier identification and prenatal diagnosis of haemoglobinopathies, and emphasize the importance of appropriately applying and interpreting haematological tests in supporting the optimum application and evaluation of globin gene DNA analysis.

  11. EMQN Best Practice Guidelines for molecular and haematology methods for carrier identification and prenatal diagnosis of the haemoglobinopathies

    PubMed Central

    Traeger-Synodinos, Joanne; Harteveld, Cornelis L; Old, John M; Petrou, Mary; Galanello, Renzo; Giordano, Piero; Angastioniotis, Michael; De la Salle, Barbara; Henderson, Shirley; May, Alison

    2015-01-01

    Haemoglobinopathies constitute the commonest recessive monogenic disorders worldwide, and the treatment of affected individuals presents a substantial global disease burden. Carrier identification and prenatal diagnosis represent valuable procedures that identify couples at risk for having affected children, so that they can be offered options to have healthy offspring. Molecular diagnosis facilitates prenatal diagnosis and definitive diagnosis of carriers and patients (especially ‘atypical' cases who often have complex genotype interactions). However, the haemoglobin disorders are unique among all genetic diseases in that identification of carriers is preferable by haematological (biochemical) tests rather than DNA analysis. These Best Practice guidelines offer an overview of recommended strategies and methods for carrier identification and prenatal diagnosis of haemoglobinopathies, and emphasize the importance of appropriately applying and interpreting haematological tests in supporting the optimum application and evaluation of globin gene DNA analysis. PMID:25052315

  12. Prenatal testing: A method for early detection of genetic disorders among fetuses in Thailand, a data between the year 1990 and 2010

    PubMed Central

    Wiwanitkit, Viroj

    2012-01-01

    Prenatal screening is an effective way to prevent genetic disease in pediatric populations. The prenatal amniocentesis and chromosome study is a widely used screening test. Here, the author reports the data on this screening from Thailand as a national reference. The rate of detected disorders is equal to 3.88 percent and the most common disorder is Down syndrome. It can be seen that the implementation of screening can help successfully prevent a number of genetic disorders in Thai pediatric population.

  13. Prenatal diagnosis and assessment of congenital spinal anomalies: Review for prenatal counseling.

    PubMed

    Upasani, Vidyadhar V; Ketwaroo, Pamela Deaver; Estroff, Judy A; Warf, Benjamin C; Emans, John B; Glotzbecker, Michael P

    2016-07-18

    The last two decades have seen continuous advances in prenatal ultrasonography and in utero magnetic resonance imaging. These technologies have increasingly enabled the identification of various spinal pathologies during early stages of gestation. The purpose of this paper is to review the range of fetal spine anomalies and their management, with the goal of improving the clinician's ability to counsel expectant parents prenatally. PMID:27458551

  14. Prenatal diagnosis and assessment of congenital spinal anomalies: Review for prenatal counseling

    PubMed Central

    Upasani, Vidyadhar V; Ketwaroo, Pamela Deaver; Estroff, Judy A; Warf, Benjamin C; Emans, John B; Glotzbecker, Michael P

    2016-01-01

    The last two decades have seen continuous advances in prenatal ultrasonography and in utero magnetic resonance imaging. These technologies have increasingly enabled the identification of various spinal pathologies during early stages of gestation. The purpose of this paper is to review the range of fetal spine anomalies and their management, with the goal of improving the clinician’s ability to counsel expectant parents prenatally. PMID:27458551

  15. Proof-of-principle rapid noninvasive prenatal diagnosis of autosomal recessive founder mutations

    PubMed Central

    Zeevi, David A.; Altarescu, Gheona; Weinberg-Shukron, Ariella; Zahdeh, Fouad; Dinur, Tama; Chicco, Gaya; Herskovitz, Yair; Renbaum, Paul; Elstein, Deborah; Levy-Lahad, Ephrat; Rolfs, Arndt; Zimran, Ari

    2015-01-01

    BACKGROUND. Noninvasive prenatal testing can be used to accurately detect chromosomal aneuploidies in circulating fetal DNA; however, the necessity of parental haplotype construction is a primary drawback to noninvasive prenatal diagnosis (NIPD) of monogenic disease. Family-specific haplotype assembly is essential for accurate diagnosis of minuscule amounts of circulating cell-free fetal DNA; however, current haplotyping techniques are too time-consuming and laborious to be carried out within the limited time constraints of prenatal testing, hampering practical application of NIPD in the clinic. Here, we have addressed this pitfall and devised a universal strategy for rapid NIPD of a prevalent mutation in the Ashkenazi Jewish (AJ) population. METHODS. Pregnant AJ couples, carrying mutation(s) in GBA, which encodes acid β-glucosidase, were recruited at the SZMC Gaucher Clinic. Targeted next-generation sequencing of GBA-flanking SNPs was performed on peripheral blood samples from each couple, relevant mutation carrier family members, and unrelated individuals who are homozygotes for an AJ founder mutation. Allele-specific haplotypes were constructed based on linkage, and a consensus Gaucher disease–associated founder mutation–flanking haplotype was fine mapped. Together, these haplotypes were used for NIPD. All test results were validated by conventional prenatal or postnatal diagnostic methods. RESULTS. Ten parental alleles in eight unrelated fetuses were diagnosed successfully based on the noninvasive method developed in this study. The consensus mutation–flanking haplotype aided diagnosis for 6 of 9 founder mutation alleles. CONCLUSIONS. The founder NIPD method developed and described here is rapid, economical, and readily adaptable for prenatal testing of prevalent autosomal recessive disease-causing mutations in an assortment of worldwide populations. FUNDING. SZMC, Protalix Biotherapeutics Inc., and Centogene AG. PMID:26426075

  16. Prenatal nutrition services: a cost analysis.

    PubMed

    Splett, P L; Caldwell, H M; Holey, E S; Alton, I R

    1987-02-01

    The scarcity of information about program costs in relation to quality care prompted a cost analysis of prenatal nutrition services in two urban settings. This study examined prenatal nutrition services in terms of total costs, per client costs, per visit costs, and cost per successful outcome. Standard cost-accounting principles were used. Outcome measures, based on written quality assurance criteria, were audited using standard procedures. In the studied programs, nutrition services were delivered for a per client cost of $72 in a health department setting and $121 in a hospital-based prenatal care program. Further analysis illustrates that total and per client costs can be misleading and that costs related to successful outcomes are much higher. The three levels of cost analysis reported provide baseline data for quantifying the costs of providing prenatal nutrition services to healthy pregnant women. Cost information from these cost analysis procedures can be used to guide adjustments in service delivery to assure successful outcomes of nutrition care. Accurate cost and outcome data are necessary prerequisites to cost-effectiveness and cost-benefit studies.

  17. Coadaptation of prenatal and postnatal maternal effects.

    PubMed

    Lock, Judith E; Smiseth, Per T; Moore, Patricia J; Moore, Allen J

    2007-11-01

    In a wide variety of species, a female's age of first reproduction influences offspring size and survival, suggesting that there exists an optimal timing of reproduction. Mothers in many species also influence offspring size and survival after birth through variation in parental care. We experimentally separated these effects in the burying beetle Nicrophorus vespilloides to test for coadaptation between prenatal and postnatal maternal effects associated with age at first reproduction. Females that reproduced early produced offspring with lower birth weight. The amount of parental care depended on the age of first reproduction of the caretaker, as did the extent of offspring begging. As predicted for a coadaptation of maternal effects, prenatal and postnatal effects were opposite for different-aged mothers, and larval weight gain and survival was greatest when the age of the caretaker and birth mother matched. Thus, prenatal effects intrinsically associated with age of first reproduction can be ameliorated by innate plasticity in postnatal care. A coadaptation of prenatal and postnatal maternal effects may evolve to allow variable timing of the first reproductive attempt. Such a coadaptation might be particularly valuable when females are constrained from reproducing at an optimal age, as, for example, in species that breed on scarce and unpredictable resources.

  18. Prenatal diagnosis of amniotic band syndrome

    PubMed Central

    Padmanabhan, Laxmi Devi; Hamza, Zareena V; Thampi, Madhavan Venugopalan; Nampoothiri, Sheela

    2016-01-01

    Amniotic band can cause a broad spectrum of anomalies ranging from simple band constrictions to major craniofacial and visceral defects. It can cause significant neonatal morbidity. Accurate diagnosis will help in the management of the present pregnancy and in counseling with regard to future pregnancies. Here we report three cases of amniotic band syndrome detected in the prenatal period. PMID:27081225

  19. Prenatal Cocaine Exposure and Infant Cortisol Reactivity

    ERIC Educational Resources Information Center

    Eiden, Rina D.; Veira, Yvette; Granger, Douglas A.

    2009-01-01

    This study examined the effects of prenatal cocaine exposure on infant hypothalamic-pituitary-adrenal axis activity and reactivity at 7 months of infant age. Participants were 168 caregiver-infant dyads (87 cocaine exposed, 81 not cocaine exposed; 47% boys). Maternal behavior, caregiving instability, and infant growth and behavior were assessed,…

  20. Prenatal diagnosis of amniotic band syndrome.

    PubMed

    Padmanabhan, Laxmi Devi; Hamza, Zareena V; Thampi, Madhavan Venugopalan; Nampoothiri, Sheela

    2016-01-01

    Amniotic band can cause a broad spectrum of anomalies ranging from simple band constrictions to major craniofacial and visceral defects. It can cause significant neonatal morbidity. Accurate diagnosis will help in the management of the present pregnancy and in counseling with regard to future pregnancies. Here we report three cases of amniotic band syndrome detected in the prenatal period.

  1. Psychiatric Conditions Associated with Prenatal Alcohol Exposure

    ERIC Educational Resources Information Center

    O'Connor, Mary J.; Paley, Blair

    2009-01-01

    Since the identification of fetal alcohol syndrome (FAS) over 35 years ago, mounting evidence about the impact of maternal alcohol consumption during pregnancy has prompted increased attention to the link between prenatal alcohol exposure (PAE) and a constellation of developmental disabilities that are characterized by physical, cognitive, and…

  2. Prenatal Drug Exposure: Meeting the Challenge.

    ERIC Educational Resources Information Center

    Sluder, Linda C.; And Others

    1997-01-01

    Stresses need for early childhood educators to be prepared for prenatal drug exposed children, who may exhibit multiple disabilities in many areas. Suggests that cognitive and behavioral extremes preclude a list of best practices with this population. Recommends small, stable learning environments. Discusses need for educators and care providers…

  3. Ethical Considerations in Prenatal Sex Selection

    ERIC Educational Resources Information Center

    Hollingsworth, Leslie Doty

    2005-01-01

    Developments in assisted reproductive technologies have made it possible for couples to select the sex of a child prenatally. This article used the NASW Code of Ethics and information from the Ethics Committee of the American Society of Reproductive Medicine to consider ethical dilemmas related to social justice (for example, reinforcement of…

  4. A teen-driven prenatal program.

    PubMed

    Fedak, J M; Peart, D E; Connolly, L M

    1996-01-01

    After years of achieving only disappointing participation rates in a prenatal program for pregnant adolescents, public health nurses in Brantford, Ontario, evaluated the program and reviewed other prenatal programs to determine how to improve attendance. The results of the evaluation indicated that the adolescents thought the prenatal program was not important or relevant. Using adolescent development theory, a new prenatal program was designed with the help of adolescents. This new program utilizes three teaching approaches: provision of relevant information, offering of information on a "need to know" basis, and provision of problem-solving activities. Topics such as how to deal with the pain of labor; how to care for an infant; and the health hazards of drugs, alcohol, and tobacco are presented using small group exercises and games. Problem-solving skills are developed through large and small group discussions, games, puzzles, and activities incorporating movement. The new 10-week program has been in effect since 1993 and has proved to be so popular that additional series have been necessary. Program participants are pregnant teenagers, the fathers of their babies, and/or their labor coaches. Because the classes are scheduled at supper time, they include a hands-on nutritional component in the form of meal preparation. Ongoing evaluations echo the good results revealed by the improved attendance figures and allow the participants to recommend new methods and ideas for the course. One such idea developed into a weekly postnatal drop-in program. PMID:8920557

  5. Sonographic Assessment of the Normal Dimensions of Liver, Spleen, and Kidney in Healthy Children at Tertiary Care Hospital.

    PubMed

    Thapa, N B; Shah, S; Pradhan, A; Rijal, K; Pradhan, A; Basnet, S

    2015-01-01

    Background Ultrasonography is one of the most common imaging modality to measure dimensions of visceral organs in children. However, the normal limit of size of visceral organs according to age and body habitus has not been specified in the standard textbooks. This might result in under detection of organomegaly in pediatrics population. Objective The objective of this study was to determine the normal range of dimensions for the liver, spleen, and kidney in healthy children. Method This is prospective cross-sectional, hospital-based study done at Tertiary-care teaching hospital. Participants included 272 pediatric subjects (152 male and 120 female) with normal physical or sonographic findings who were examined because of problems unrelated to the measured organs. The subjects were one month to 15 year (180 months) old. All measured organs were sonographically normal. Relationships of the dimensions of these organs with sex, age, body weight and height were investigated. Limits of normal dimensions of these organs were defined. Result Normal length of liver, kidneys and spleen were obtained sonographically for 272 children (152 male [55.9%] and 120 female [44.1%]) in the age group from 1 months to 15 (180 months) years. The mean age was 45.78 months (SD, 44.73). The measured dimensions of all these organs showed highest correlation with height and age so the descriptive analysis of the organ dimensions (mean, minimum, and maximum values, SD and 5th and 95th percentiles) were expressed in 10 age groups along with height range of the included children. The mean length of right kidney was shorter than the left kidney length, and the difference was statistically significant (p = 0.001). Conclusion This study provides practical and comprehensive guide to the normal visceral organ dimension in pediatric population. The normal range limit of the liver, spleen, and kidney determined in this study could be used as a reference in daily practice in local radiology clinics

  6. Normal and sonographic anatomy of selected peripheral nerves. Part III: Peripheral nerves of the lower limb.

    PubMed

    Kowalska, Berta; Sudoł-Szopińska, Iwona

    2012-06-01

    The ultrasonographic examination is currently increasingly used in imaging peripheral nerves, serving to supplement the physical examination, electromyography and magnetic resonance imaging. As in the case of other USG imaging studies, the examination of peripheral nerves is non-invasive and well-tolerated by patients. The typical ultrasonographic picture of peripheral nerves as well as the examination technique have been discussed in part I of this article series, following the example of the median nerve. Part II of the series presented the normal anatomy and the technique for examining the peripheral nerves of the upper limb. This part of the article series focuses on the anatomy and technique for examining twelve normal peripheral nerves of the lower extremity: the iliohypogastric and ilioinguinal nerves, the lateral cutaneous nerve of the thigh, the pudendal, sciatic, tibial, sural, medial plantar, lateral plantar, common peroneal, deep peroneal and superficial peroneal nerves. It includes diagrams showing the proper positioning of the sonographic probe, plus USG images of the successively discussed nerves and their surrounding structures. The ultrasonographic appearance of the peripheral nerves in the lower limb is identical to the nerves in the upper limb. However, when imaging the lower extremity, convex probes are more often utilized, to capture deeply-seated nerves. The examination technique, similarly to that used in visualizing the nerves of upper extremity, consists of locating the nerve at a characteristic anatomic reference point and tracking it using the "elevator technique". All 3 parts of the article series should serve as an introduction to a discussion of peripheral nerve pathologies, which will be presented in subsequent issues of the "Journal of Ultrasonography".

  7. Is Sonographic Assessment of Intratendinous Blood Flow in Achilles Tendinopathy Patients Reliable?

    PubMed Central

    Risch, L.; Cassel, M.; Messerschmidt, J.; Intziegianni, K.; Fröhlich, K.; Kopinski, S.; Mayer, F.

    2016-01-01

    Purpose: The purpose of this study was to investigate the consistency between different Doppler ultrasound (DU) modes as well as the intra- and inter-observer reliability of investigators with different experience level in assessing intratendinous blood flow (IBF) in Achilles tendinopathy patients. Material and Methods: 18 participants (36 Achilles tendons, AT) with Achilles tendinopathy (24 AT) were examined with power Doppler ultrasound (PDU), colour Doppler ultrasound (CDU) and “Advanced Dynamic Flow” (ADF) (Toshiba Xario SSA-660 A; 14MHz transducer) by 2 investigators (experienced, EI; inexperienced, II) in a test-retest design (M1/M2). A modified Öhberg score was used to quantify IBF. Data was analysed descriptively (absolute and relative). Consistency of the 3 modes was presented by Kendall’s Coefficient of Concordance (Kendall’s W). Intra- and inter-observer reliability were calculated by use of Kendall’s tau b correlation coefficient. Results: IBF was detected in 79–92% of symptomatic AT and in 33–50% of contralateral asymptomatic AT. Comparing the 3 modes, Kendall’s W ranged from 0.97–0.98. Analysis of intra-observer reliability resulted in Kendall’s tau 0.90–0.92 for EI and 0.84–0.87 for II. Inter-observer reliability resulted in Kendall’s tau 0.64–0.69 in M1 and 0.68–0.70 in M2. Conclusion: The very good consistency between PDU, CDU and ADF indicates a comparable applicability for assessing IBF in ATs. Intra-observer reliability was high for both investigators, independent of experience. The moderate inter-observer reliability reflects the challenge in sonographic detection of intratendinous blood flow (IBF) amount. PMID:27689161

  8. Normal sonographic anatomy of the abdomen of coatis (Nasua nasua Linnaeus 1766)

    PubMed Central

    2013-01-01

    Background The use of ultrasound in veterinary medicine is widespread as a diagnostic supplement in the clinical routine of small animals, but there are few reports in wild animals. The objective of this study was to describe the anatomy, topography and abdominal sonographic features of coatis. Results The urinary bladder wall measured 0.11 ± 0.03 cm. The symmetrical kidneys were in the left and right cranial quadrant of the abdomen and the cortical, medullary and renal pelvis regions were recognized and in all sections. The medullary rim sign was visualized in the left kidney of two coatis. The liver had homogeneous texture and was in the cranial abdomen under the rib cage. The gallbladder, rounded and filled with anechoic content was visualized in all coatis, to the right of the midline. The spleen was identified in the left cranial abdomen following the greater curvature of the stomach. The parenchyma was homogeneous and hyperechogenic compared to the liver and kidney cortex. The stomach was in the cranial abdomen, limited cranially by the liver and caudo-laterally by the spleen. The left adrenal glands of five coatis were seen in the cranial pole of the left kidney showing hypoechogenic parenchyma without distinction of cortex and medulla. The pancreas was visualized in only two coatis. The left ovary (0.92 cm x 0.56 cm) was visualized on a single coati in the caudal pole of the kidney. The uterus, right adrenal, right ovary and intestines were not visualized. Conclusions Ultrasound examination of the abdomen of coatis may be accomplished by following the recommendations for dogs and cats. It is possible to evaluate the anatomical and topographical relationships of the abdominal organs together with the knowledge of the peculiarities of parenchymal echogenicity and echotexture of the viscera. PMID:23800301

  9. Sediment dispersal patterns within the Nares Abyssal Plain: observations from GLORIA Sonographs

    SciTech Connect

    Shephard, L.E.; Tucholke, B.E.; Fry, V.A.; Flood, R.E.; Searle, R.C.

    1985-01-01

    Features evident on GLORIA sonographs from the Nares Abyssal Plain suggest a sediment dispersal pattern for turbidity currents that varies temporally and spatially, resulting in randomly distributed turbidite deposits in the distal abyssal plain east of 64/sup 0/W. Regional variations in backscatter intensities across the abyssal plain are related to the frequency and thickness of near-surface silt beds, basement highs disrupting the seafloor, and subtle changes in surface and sub-surface bedforms related to low-relief turbidite flow paths, biologic activity, and possibly erosion. High backscatter intensities, prevalent west of 64/sup 0/W, are generally associated with those areas containing thicker silt beds and very regular subbottom reflectors on 3.5 kHz profiles. Low backscatter intensities, prevalent east of 64/sup 0/W, are associated with those areas containing thin silt beds or stringers with a much higher percentage of pelagic clay. Seafloor lineaments occur throughout the survey area but decrease in abundance east of 64/sup 0/W. These features have no apparent relief when crossed by surface-towed seismic reflection profiles. In some instances the lineaments may correspond to low-relief turbidite flow paths that contain varying textural compositions resulting in increased backscatter. These features would be indicative of sediment transport directions. Other possible origins for the lineaments, that often appear trackline parallel, include near-surface morphology that is preferentially detected and aligned by GLORIA, or possibly the lineaments result from complex subbottom interference patterns that would not be readily apparent in areas with a more irregular seafloor.

  10. Application of fetal DNA in maternal plasma for noninvasive prenatal diagnosis.

    PubMed

    Chiu, Rossa W K; Lo, Y M Dennis

    2002-01-01

    Prenatal diagnosis of fetal genetic conditions is a standard part of modern obstetric care. Many of the current methods rely on invasive methods and are associated with an inherent risk of fetal loss. Consequently, there has been a long-term goal for development of noninvasive prenatal diagnostic methods. In 1997, the presence of fetal DNA in maternal plasma was first discovered through the detection of Y-chromosome-specific sequences in the plasma of women conceived with male fetuses. This discovery has opened up new possibilities in the development of noninvasive prenatal diagnostic methods through a source of fetal genetic material that could be conveniently accessible simply through the collection of a maternal peripheral blood sample. To date, there have been numerous reported applications, including fetal RhD genotyping, prenatal diagnosis of sex-linked disorders, paternally inherited genetic diseases and some pregnancy-associated conditions, including preeclampsia. More recently, there have been significant new developments with expanding number of potential applications.

  11. Langerhans cell precursors acquire RANK/CD265 in prenatal human skin.

    PubMed

    Schöppl, Alice; Botta, Albert; Prior, Marion; Akgün, Johnnie; Schuster, Christopher; Elbe-Bürger, Adelheid

    2015-01-01

    The skin is the first barrier against foreign pathogens and the prenatal formation of a strong network of various innate and adaptive cells is required to protect the newborn from perinatal infections. While many studies about the immune system in healthy and diseased adult human skin exist, our knowledge about the cutaneous prenatal/developing immune system and especially about the phenotype and function of antigen-presenting cells such as epidermal Langerhans cells (LCs) in human skin is still scarce. It has been shown previously that LCs in healthy adult human skin express receptor activator of NF-κB (RANK), an important molecule prolonging their survival. In this study, we investigated at which developmental stage LCs acquire this important molecule. Immunofluorescence double-labeling of cryostat sections revealed that LC precursors in prenatal human skin either do not yet [10-11 weeks of estimated gestational age (EGA)] or only faintly (13-15 weeks EGA) express RANK. LCs express RANK at levels comparable to adult LCs by the end of the second trimester. Comparable with adult skin, dermal antigen-presenting cells at no gestational age express this marker. These findings indicate that epidermal leukocytes gradually acquire RANK during gestation - a phenomenon previously observed also for other markers on LCs in prenatal human skin.

  12. Developmental programming: interaction between prenatal BPA exposure and postnatal adiposity on metabolic variables in female sheep.

    PubMed

    Veiga-Lopez, Almudena; Moeller, Jacob; Sreedharan, Rohit; Singer, Kanakadurga; Lumeng, Carey; Ye, Wen; Pease, Anthony; Padmanabhan, Vasantha

    2016-02-01

    Among potential contributors for the increased incidence of metabolic diseases is the developmental exposure to endocrine-disrupting chemicals such as bisphenol A (BPA). BPA is an estrogenic chemical used in a variety of consumer products. Evidence points to interactions of BPA with the prevailing environment. The aim of this study was to assess the effects of prenatal exposure to BPA on postnatal metabolic outcomes, including insulin resistance, adipose tissue distribution, adipocyte morphometry, and expression of inflammatory markers in adipose tissue as well as to assess whether postnatal overfeeding would exacerbate these effects. Findings indicate that prenatal BPA exposure leads to insulin resistance in adulthood in the first breeder cohort (study 1), but not in the second cohort (study 2), which is suggestive of potential differences in genetic susceptibility. BPA exposure induced adipocyte hypertrophy in the visceral fat depot without an accompanying increase in visceral fat mass or increased CD68, a marker of macrophage infiltration, in the subcutaneous fat depot. Cohens effect size analysis found the ratio of visceral to subcutaneous fat depot in the prenatal BPA-treated overfed group to be higher compared with the control-overfed group. Altogether, these results suggest that exposure to BPA during fetal life at levels found in humans can program metabolic outcomes that lead to insulin resistance, a forerunner of type 2 diabetes, with postnatal obesity failing to manifest any interaction with prenatal BPA relative to insulin resistance and adipocyte hypertrophy.

  13. Developmental programming: interaction between prenatal BPA exposure and postnatal adiposity on metabolic variables in female sheep.

    PubMed

    Veiga-Lopez, Almudena; Moeller, Jacob; Sreedharan, Rohit; Singer, Kanakadurga; Lumeng, Carey; Ye, Wen; Pease, Anthony; Padmanabhan, Vasantha

    2016-02-01

    Among potential contributors for the increased incidence of metabolic diseases is the developmental exposure to endocrine-disrupting chemicals such as bisphenol A (BPA). BPA is an estrogenic chemical used in a variety of consumer products. Evidence points to interactions of BPA with the prevailing environment. The aim of this study was to assess the effects of prenatal exposure to BPA on postnatal metabolic outcomes, including insulin resistance, adipose tissue distribution, adipocyte morphometry, and expression of inflammatory markers in adipose tissue as well as to assess whether postnatal overfeeding would exacerbate these effects. Findings indicate that prenatal BPA exposure leads to insulin resistance in adulthood in the first breeder cohort (study 1), but not in the second cohort (study 2), which is suggestive of potential differences in genetic susceptibility. BPA exposure induced adipocyte hypertrophy in the visceral fat depot without an accompanying increase in visceral fat mass or increased CD68, a marker of macrophage infiltration, in the subcutaneous fat depot. Cohens effect size analysis found the ratio of visceral to subcutaneous fat depot in the prenatal BPA-treated overfed group to be higher compared with the control-overfed group. Altogether, these results suggest that exposure to BPA during fetal life at levels found in humans can program metabolic outcomes that lead to insulin resistance, a forerunner of type 2 diabetes, with postnatal obesity failing to manifest any interaction with prenatal BPA relative to insulin resistance and adipocyte hypertrophy. PMID:26646100

  14. Langerhans cell precursors acquire RANK/CD265 in prenatal human skin

    PubMed Central

    Schöppl, Alice; Botta, Albert; Prior, Marion; Akgün, Johnnie; Schuster, Christopher; Elbe-Bürger, Adelheid

    2015-01-01

    The skin is the first barrier against foreign pathogens and the prenatal formation of a strong network of various innate and adaptive cells is required to protect the newborn from perinatal infections. While many studies about the immune system in healthy and diseased adult human skin exist, our knowledge about the cutaneous prenatal/developing immune system and especially about the phenotype and function of antigen-presenting cells such as epidermal Langerhans cells (LCs) in human skin is still scarce. It has been shown previously that LCs in healthy adult human skin express receptor activator of NF-κB (RANK), an important molecule prolonging their survival. In this study, we investigated at which developmental stage LCs acquire this important molecule. Immunofluorescence double-labeling of cryostat sections revealed that LC precursors in prenatal human skin either do not yet [10–11 weeks of estimated gestational age (EGA)] or only faintly (13–15 weeks EGA) express RANK. LCs express RANK at levels comparable to adult LCs by the end of the second trimester. Comparable with adult skin, dermal antigen-presenting cells at no gestational age express this marker. These findings indicate that epidermal leukocytes gradually acquire RANK during gestation – a phenomenon previously observed also for other markers on LCs in prenatal human skin. PMID:25722033

  15. Sterile Intra-amniotic Inflammation in Asymptomatic Patients with a Sonographic Short Cervix: Prevalence and Clinical Significance

    PubMed Central

    Romero, Roberto; Miranda, Jezid; Chaiworapongsa, Tinnakorn; Chaemsaithong, Piya; Gotsch, Francesca; Dong, Zhong; Ahmed, Ahmed I.; Yoon, Bo Hyun; Hassan, Sonia S.; Kim, Chong J.; Korzeniewski, Steven J.; Yeo, Lami; Kim, Yeon Mee

    2014-01-01

    Objective To determine the frequency and clinical significance of sterile- and microbial-associated intra-amniotic inflammation in asymptomatic patients with a sonographic short cervix. Methods Amniotic fluid (AF) samples obtained by transabdominal amniocentesis from 231 asymptomatic women with a sonographic short cervix [cervical length (CL) ≤25 mm] were analyzed using cultivation techniques (for aerobic and anaerobic as well as genital mycoplasmas) and broad-range polymerase chain reaction (PCR) coupled with electrospray ionization mass spectrometry (PCR/ESI-MS). The frequency and magnitude of intra-amniotic inflammation [defined as an AF interleukin (IL)-6 concentration ≥2.6 ng/mL], acute histologic placental inflammation, spontaneous preterm delivery, and the amniocentesis-to-delivery interval were examined according to the results of AF cultures, PCR/ESI-MS and AF IL-6 concentrations. Results Ten percent (24/231) of patients with a sonographic short cervix had sterile intra-amniotic inflammation (an elevated AF IL-6 concentration without evidence of microorganisms using cultivation and molecular methods). Sterile intra-amniotic inflammation was significantly more frequent than microbial-associated intra-amniotic inflammation [10.4% (24/231) vs. 2.2% (5/231); p<0.001]. Patients with sterile intra-amniotic inflammation had a significantly higher rate of spontaneous preterm delivery <34 weeks of gestation [70.8% (17/24) vs. 31.6% (55/174); p<0.001] and a significantly shorter amniocentesis-to-delivery interval than patients without intra-amniotic inflammation [median 35, (IQR: 10 – 70) vs. median 71, (IQR: 47 – 98) days, (p<0.0001)]. Conclusion Sterile intra-amniotic inflammation is more common than microbial-associated intra-amniotic inflammation in asymptomatic women with a sonographic short cervix, and is associated with increased risk of spontaneous preterm delivery (<34 weeks). Further investigation is required to determine the causes of sterile

  16. Development of an anthropomorphic shoulder phantom model that simulates bony anatomy for sonographic measurement of the acromiohumeral distance.

    PubMed

    Adusumilli, Pratik; McCreesh, Karen; Evans, Tony

    2014-11-01

    The purpose of this project was to create a sonographic phantom model of the shoulder that was accurate in bone configuration. Its main purpose was for operator training to measure the acromiohumeral distance. A computerized 3-dimensional model of the superior half of the humerus and scapula was rendered and 3-dimensionally printed. The bone model was embedded in a gelatin compound and set in a shoulder-shaped mold. The materials used had speeds of sound that were well matched to soft tissue and epiphyseal bone. The model was specifically effective in simulating the acromiohumeral distance because of its accurate bone geometry. PMID:25336490

  17. Prenatal depression effects and interventions: a review.

    PubMed

    Field, Tiffany; Diego, Miguel; Hernandez-Reif, Maria

    2010-12-01

    This review covers research on the negative effects of prenatal depression and cortisol on fetal growth, prematurity and low birthweight. Although prenatal depression and cortisol were typically measured at around 20 weeks gestation, other research suggests the stability of depression and cortisol levels across pregnancy. Women with Dysthymia as compared to Major Depression Disorder had higher cortisol levels, and their newborns had lower gestational age and birthweight. The cortisol effects in these studies were unfortunately confounded by low serotonin and low dopamine levels which in themselves could contribute to non-optimal pregnancy outcomes. The negative effects of depression and cortisol were also potentially confounded by comorbid anxiety, by demographic factors including younger age, less education and lower SES of the mothers and by the absence of a partner or a partner who was unhappy about the pregnancy or a partner who was depressed. Substance use (especially caffeine use) was still another risk factor. All of these problems including prenatal depression, elevated cortisol, prematurity and low birthweight and even postpartum depression have been reduced by prenatal massage therapy provided by the women's partners. Massage therapy combined with group interpersonal psychotherapy was also effective for reducing depression and cortisol levels. Several limitations of these studies were noted and suggestions for future research included exploring other predictor variables like progesterone/estriol ratios, immune factors and genetic determinants. Further research is needed both on the potential use of cortisol as a screening measure and the use of other therapies that might reduce prenatal depression and cortisol in the women and prematurity and low birthweight in their infants.

  18. Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening

    PubMed Central

    Dondorp, Wybo; de Wert, Guido; Bombard, Yvonne; Bianchi, Diana W; Bergmann, Carsten; Borry, Pascal; Chitty, Lyn S; Fellmann, Florence; Forzano, Francesca; Hall, Alison; Henneman, Lidewij; Howard, Heidi C; Lucassen, Anneke; Ormond, Kelly; Peterlin, Borut; Radojkovic, Dragica; Rogowski, Wolf; Soller, Maria; Tibben, Aad; Tranebjærg, Lisbeth; van El, Carla G; Cornel, Martina C

    2015-01-01

    This paper contains a joint ESHG/ASHG position document with recommendations regarding responsible innovation in prenatal screening with non-invasive prenatal testing (NIPT). By virtue of its greater accuracy and safety with respect to prenatal screening for common autosomal aneuploidies, NIPT has the potential of helping the practice better achieve its aim of facilitating autonomous reproductive choices, provided that balanced pretest information and non-directive counseling are available as part of the screening offer. Depending on the health-care setting, different scenarios for NIPT-based screening for common autosomal aneuploidies are possible. The trade-offs involved in these scenarios should be assessed in light of the aim of screening, the balance of benefits and burdens for pregnant women and their partners and considerations of cost-effectiveness and justice. With improving screening technologies and decreasing costs of sequencing and analysis, it will become possible in the near future to significantly expand the scope of prenatal screening beyond common autosomal aneuploidies. Commercial providers have already begun expanding their tests to include sex-chromosomal abnormalities and microdeletions. However, multiple false positives may undermine the main achievement of NIPT in the context of prenatal screening: the significant reduction of the invasive testing rate. This document argues for a cautious expansion of the scope of prenatal screening to serious congenital and childhood disorders, only following sound validation studies and a comprehensive evaluation of all relevant aspects. A further core message of this document is that in countries where prenatal screening is offered as a public health programme, governments and public health authorities should adopt an active role to ensure the responsible innovation of prenatal screening on the basis of ethical principles. Crucial elements are the quality of the screening process as a whole (including non

  19. Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening.

    PubMed

    Dondorp, Wybo; de Wert, Guido; Bombard, Yvonne; Bianchi, Diana W; Bergmann, Carsten; Borry, Pascal; Chitty, Lyn S; Fellmann, Florence; Forzano, Francesca; Hall, Alison; Henneman, Lidewij; Howard, Heidi C; Lucassen, Anneke; Ormond, Kelly; Peterlin, Borut; Radojkovic, Dragica; Rogowski, Wolf; Soller, Maria; Tibben, Aad; Tranebjærg, Lisbeth; van El, Carla G; Cornel, Martina C

    2015-11-01

    This paper contains a joint ESHG/ASHG position document with recommendations regarding responsible innovation in prenatal screening with non-invasive prenatal testing (NIPT). By virtue of its greater accuracy and safety with respect to prenatal screening for common autosomal aneuploidies, NIPT has the potential of helping the practice better achieve its aim of facilitating autonomous reproductive choices, provided that balanced pretest information and non-directive counseling are available as part of the screening offer. Depending on the health-care setting, different scenarios for NIPT-based screening for common autosomal aneuploidies are possible. The trade-offs involved in these scenarios should be assessed in light of the aim of screening, the balance of benefits and burdens for pregnant women and their partners and considerations of cost-effectiveness and justice. With improving screening technologies and decreasing costs of sequencing and analysis, it will become possible in the near future to significantly expand the scope of prenatal screening beyond common autosomal aneuploidies. Commercial providers have already begun expanding their tests to include sex-chromosomal abnormalities and microdeletions. However, multiple false positives may undermine the main achievement of NIPT in the context of prenatal screening: the significant reduction of the invasive testing rate. This document argues for a cautious expansion of the scope of prenatal screening to serious congenital and childhood disorders, only following sound validation studies and a comprehensive evaluation of all relevant aspects. A further core message of this document is that in countries where prenatal screening is offered as a public health programme, governments and public health authorities should adopt an active role to ensure the responsible innovation of prenatal screening on the basis of ethical principles. Crucial elements are the quality of the screening process as a whole (including non

  20. Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening.

    PubMed

    Dondorp, Wybo; de Wert, Guido; Bombard, Yvonne; Bianchi, Diana W; Bergmann, Carsten; Borry, Pascal; Chitty, Lyn S; Fellmann, Florence; Forzano, Francesca; Hall, Alison; Henneman, Lidewij; Howard, Heidi C; Lucassen, Anneke; Ormond, Kelly; Peterlin, Borut; Radojkovic, Dragica; Rogowski, Wolf; Soller, Maria; Tibben, Aad; Tranebjærg, Lisbeth; van El, Carla G; Cornel, Martina C

    2015-11-01

    This paper contains a joint ESHG/ASHG position document with recommendations regarding responsible innovation in prenatal screening with non-invasive prenatal testing (NIPT). By virtue of its greater accuracy and safety with respect to prenatal screening for common autosomal aneuploidies, NIPT has the potential of helping the practice better achieve its aim of facilitating autonomous reproductive choices, provided that balanced pretest information and non-directive counseling are available as part of the screening offer. Depending on the health-care setting, different scenarios for NIPT-based screening for common autosomal aneuploidies are possible. The trade-offs involved in these scenarios should be assessed in light of the aim of screening, the balance of benefits and burdens for pregnant women and their partners and considerations of cost-effectiveness and justice. With improving screening technologies and decreasing costs of sequencing and analysis, it will become possible in the near future to significantly expand the scope of prenatal screening beyond common autosomal aneuploidies. Commercial providers have already begun expanding their tests to include sex-chromosomal abnormalities and microdeletions. However, multiple false positives may undermine the main achievement of NIPT in the context of prenatal screening: the significant reduction of the invasive testing rate. This document argues for a cautious expansion of the scope of prenatal screening to serious congenital and childhood disorders, only following sound validation studies and a comprehensive evaluation of all relevant aspects. A further core message of this document is that in countries where prenatal screening is offered as a public health programme, governments and public health authorities should adopt an active role to ensure the responsible innovation of prenatal screening on the basis of ethical principles. Crucial elements are the quality of the screening process as a whole (including non

  1. The usefulness of gestational sac and placental sonographic morphology in differentiating between second-trimester tubal and abdominal pregnancy: case report and a review of literature.

    PubMed

    Liu, Joseph; Khan, Ambereen; Johnson, Samuel; Grigorian, Cheryl; Li, Tao

    2014-01-01

    Second-trimester tubal pregnancy is rarely encountered and published cases are limited. There are no established sonographic criteria to differentiate it from abdominal pregnancy; however, differences in their medical management make this distinction important. We report a case of a 14-week 5-day tubal pregnancy that presented near rupture. Sonography demonstrated many overlapping features with abdominal pregnancy. In addition, the extrauterine gestational sac was rounded and well defined and the placenta was crescent-shaped. We propose that these sonographic features represent a second-trimester tubal pregnancy rather than an abdominal pregnancy.

  2. Prenatally evolving ectopia cordis with successful surgical treatment.

    PubMed

    Sadłecki, Paweł; Krekora, Michał; Krasomski, Grzegorz; Walentowicz-Sadłecka, Małgorzata; Grabiec, Marek; Moll, Jacek; Respondek-Liberska, Maria

    2011-01-01

    Ectopia cordis (EC) is a rare malformation due to failure of maturation of the midline mesodermal components of the chest and abdomen. It can be defined as a complete or partial displacement of the heart outside the thoracic cavity. It comprises 0.1% of congenital heart diseases. Common cardiac anomalies associated with EC are ventricular septal defect, atrial septal defect, and tetralogy of Fallot. EC and additional anomalies usually lead to intrauterine death. The possibility and efficacy of surgery in a surviving neonate depends on the degree of EC, coexisting congenital heart defects and extracardiac malformations. We present a case of prenatally diagnosed isolated EC diagnosed in the first half of pregnancy. After counseling, the patient decided to continue her pregnancy which ended with a newborn baby discharged from the hospital after cardiac surgery performed just after elective cesarean section. PMID:21508620

  3. Prenatal and postnatal steroid therapy and child neurodevelopment.

    PubMed

    Friedman, Smadar; Shinwell, Eric S

    2004-09-01

    In recent years, scientific evidence has accumulated on the potential neuro-toxic effects of perinatal steroid therapy on the incompletely developed brain; therefore, much effort has been directed toward finding the optimal regimen that may reduce lung disease without incurring significant brain injury in fetuses and preterm infants. Current recommendations of the NIH endorse a single course of prenatal steroids in cases of imminent preterm delivery. Postnatal steroid therapy should be limited, according to the American Association of Pediatrics Guide-lines, to selected clinical cases after the first week of life. These cautions aim to decrease possible harmful effects that could affect short- and long-term neuro-developmental outcome in this high-risk population.

  4. Vanished Twins and Misdiagnosed Sex: A Case Report with Implications in Prenatal Counseling Using Noninvasive Cell-Free DNA Screening.

    PubMed

    Kelley, James F; Henning, George; Ambrose, Anthony; Adelman, Alan

    2016-01-01

    Cell-free DNA testing is a recently introduced method for screening pregnant women for fetal trisomy, which is associated with some common significant genetic diseases, as well as the sex of the fetus. The case described here demonstrates the connection between the ultrasound "vanishing twin" phenomenon and the misdiagnosis of prenatal sex using cell-free DNA testing. PMID:27170800

  5. Sonographic Diagnosis of Fetal Adrenal Hemorrhage Complicating a Vein of Galen Aneurysmal Malformation

    PubMed Central

    Kütük, Mehmet Serdar; Doğanay, Selim; Özdemir, Ahmet; Görkem, Süreyya Burcu; Öztürk, Adnan

    2016-01-01

    Background: The vein of Galen aneurysmal malformation (VGAM) is a rare intracranial vascular malformation which causes end-organ ischemia or venous congestion due to heart failure. Adrenal hemorrhage associated with VGAM has not been reported in the literature. We present the imaging findings of a fetal VGAM with adrenal hemorrhage. Case Report: A 26 year-old primigravida woman whose fetus with VGAM and mild cardiomegaly was scanned in the 34th week. On fetal ultrasound, a hyperechoic, well-circumscribed mass in the left suprarenal region was shown. Fetal and postnatal magnetic resonance imaging confirmed the diagnosis of adrenal hemorrhage. The baby died after delivery. Conclusion: Adrenal hemorrhage can complicate VGAM in fetuses with severe heart failure. Evaluation of the adrenal gland in affected cases may contribute to the prenatal counseling, and postnatal management. PMID:26966627

  6. Utility of urine cytology in evaluating hematuria with sonographically suspected bladder lesion in patients older than 50 years

    PubMed Central

    Mady, Hussam Eldin Helmy; Omar, Abd Alhady Mohammad; Elgammal, Mohamed Abd-Alla; Ibrahim, Ghada Hosny Mohamed

    2014-01-01

    Purpose: Investigate the utility of urine cytology (UC) in patients older than 50 years with hematuria and sonographically suspected bladder lesion. Patients and Methods: Between April 2010 and June 2012, 152 patients above 50 years suffering from hematuria were included in this study. In all patients, ultrasound revealed a lesion suspected to be bladder cancer. Voided urine specimens were taken from all patients and transported to Pathology laboratory and processed within 1-3 h. All patients have undergone a cystoscopy examination and biopsy was taken from any suspicious lesion. The cytological diagnosis was reported as one of three categories, positive or negative or suspicious for malignancy. Results: One hundred thirty three (87.5%) patients in this study proved to have bladder carcinoma in histopathological examination. The sensitivity of UC was 53.4% and only five patients were suspicious. Percentage of positive cytology was highest among patients having gross hematuria (51.3%), posterior wall lesions (75%), papillonodular configuration (81.8%), invasive cancer (59.1%) and bilharzial affection (52.5%). Conclusion: Hematuria in patients older than 50 years with sonographically suspected bladder lesion mandates cystoscopy and biopsy. UC does not add more significant information in this group of patients. PMID:25125893

  7. 3-dimensional sonographic analysis based on color flow Doppler and gray scale image data: a preliminary report.

    PubMed

    Pretorius, D H; Nelson, T R; Jaffe, J S

    1992-05-01

    This paper presents preliminary results of a technique that permits acquisition and display of three-dimensional (3D) anatomy using data collected from color flow Doppler and gray scale image sonography. 3D sonographic image data were acquired as two-dimensional planar images with commercially available equipment. A translational stage permitted the transducer position and orientation to be determined. Color flow sonographic video image data were digitized into a PC-AT computer along with transducer position and orientation information. Color flow velocity and gray scale data were separated, 3D filtered, and thresholded. A surface rendering program was used to define the vessel blood-lumen interface. Planar slices of arbitrary orientation and volume rendered images were displayed interactively on a graphics workstation. The technique was demonstrated in a lamb kidney in vitro and for the carotid artery at the bifurcation in vivo. Our results demonstrate the potential of 3D sonography as a technique for visualization of anatomy. Color flow data offer direct access to the vascular system, facilitating 3D analysis and display. 3D sonography offers potential advantages over existing diagnostic studies in that it is noninvasive, requires no intravenous contrast material, offers arbitrary plane extraction and review after the patient has completed the examination, and permits vascular anatomy to be visualized clearly via rendered images.

  8. Incidence of prenatal alcohol exposure in Prince Edward Island: a population-based descriptive study

    PubMed Central

    Bryanton, Janet; Boswall, Diane; McCarthy, Mary Jean; Fraser, Bonnie; Walsh, Donna; Freeman, Bridget; Koren, Gideon; Bigsby, Kathy

    2014-01-01

    Background Fetal alcohol spectrum disorder (FASD) is a leading preventable cause of neurodevelopmental disability in North America. The stigma associated with alcohol use and abuse during pregnancy makes it difficult to obtain information on prenatal alcohol use through self-reporting. We assessed the incidence of prenatal alcohol exposure in Prince Edward Island to facilitate future public health initiatives addressing FASD. Methods Prenatal alcohol exposure was examined via population-based collection of meconium and analysis of fatty acid ethyl esters (FAEEs). Fatty acid ethyl esters are nonoxidative metabolites of ethanol that are produced in the fetus. Meconium FAEE concentrations of 2.0 nmol/g or greater are indicative of frequent prenatal alcohol exposure during the last 2 trimesters of pregnancy. Samples were collected from 1307 neonates between Nov. 8, 2010, and Nov. 8, 2011, in hospitals in PEI, or from those born to mothers who resided in PEI but gave birth in Halifax, Nova Scotia. Samples were frozen and shipped for analysis. Fatty acid ethyl esters were analyzed by gas chromatography–mass spectrometry and quantified by means of deuterated internal standards. Results Of the 1307 samples collected, 1271 samples were successfully analyzed. Positive results for FAEEs were obtained in 3.1% (n = 39) of samples collected within the first 24 hours after birth. Interpretation Not all neonates exposed to heavy prenatal alcohol in utero will exhibit FASD; based on current estimates of predictive value for disease by exposure, our findings suggest that 1.3% of neonates born in PEI during this 1-year period will have FASD. In its application to an entire provincial birth cohort, this study successfully implemented a public health–centred approach for evaluating population-based risk of FASD, with implications for practice across Canada. PMID:25077128

  9. Prenatally diagnosed de novo complex chromosome rearrangements: Two new cases and review of the literature

    SciTech Connect

    Ruiz, C.; Grubs, R.E.; Jewett, T.

    1994-09-01

    Complex chromosome rearrangements (CCR) are rare structural rearrangements involving at least three chromosomes with three or more breakpoints. Although there have been numerous reports of individuals with CCR, most have been ascertained through the presence of multiple congenital anomalies, recurrent pregnancy loss, or infertility. Few cases have been ascertained prenatally. We present two new cases of prenatally ascertained CCR. In the first case, an amniocentesis revealed an apparently balanced de novo rearrangement in which chromosomes 5, 6 and 11 were involved in a three-way translocation: 46,XY,t(6;5)(5;11)(q23;p14.3;q15;p13). The pregnancy was unevenful. Recently, at the age of 9 months, a physical and developmental evaluation were normal but, height, weight, and head circumference were below the 5th percentile. In the second case an amniocentesis revealed an unbalanced de novo rearrangement involving separate translocations and an interstitial deletion: 46,XY,del(6)(q25.3q27),t(3;8)(p13;q21.3),t(6;18)(p11.2;q11.2). A meconium plug was present at birth and at 6 months of age surgery for Hirschsprung`s disease was required. Currently, at 10 months of age, the patient has hypotonia and developmental delay. The paucity of information regarding prenatally diagnosed CCR poses a problem in counseling families. Of the four prenatally diagnosed balanced de novo CCR cases, three had abnormal outcomes. In a review of the literature, approximately 70% of the postnatally ascertained balanced de novo CCR cases were associated with congenital anomalies, growth retardation and/or mental retardation. More information regarding the outcome of prenatally ascertained balanced de novo CCR is required for accurate risk assessment.

  10. Programming Effects of Prenatal Glucocorticoid Exposure with a Postnatal High-Fat Diet in Diabetes Mellitus

    PubMed Central

    Sheen, Jiunn-Ming; Hsieh, Chih-Sung; Tain, You-Lin; Li, Shih-Wen; Yu, Hong-Ren; Chen, Chih-Cheng; Tiao, Miao-Meng; Chen, Yu-Chieh; Huang, Li-Tung

    2016-01-01

    Increasing evidence has shown that many chronic diseases originate from early life, even before birth, through what are termed as fetal programming effects. Glucocorticoids are frequently used prenatally to accelerate the maturation of the lungs of premature infants. High-fat diets are associated with insulin resistance, but the effects of prenatal glucocorticoid exposure plus a postnatal high-fat diet in diabetes mellitus remain unclear. We administered pregnant Sprague-Dawley rats’ intraperitoneal dexamethasone (0.1 mg/kg body weight) or vehicle at gestational days 14–20. Male offspring were administered a normal or high-fat diet starting from weaning. We assessed the effects of prenatal steroid exposure plus postnatal high-fat diet on the liver, pancreas, muscle and fat at postnatal day 120. At 15 and 30 min, sugar levels were higher in the dexamethasone plus high-fat diet (DHF) group than the vehicle plus high-fat diet (VHF) group in the intraperitoneal glucose tolerance test (IPGTT). Serum insulin levels at 15, 30 and 60 min were significantly higher in the VHF group than in the vehicle and normal diet group. Liver insulin receptor and adenosine monophosphate-activated protein kinase mRNA expressions and protein levels were lower in the DHF group. Insulin receptor and insulin receptor substrate-1 mRNA expressions were lower in the epididymal adipose tissue in the VHF and DHF groups. “Programming” of liver or epididymal adipose tissue resulted from prenatal events. Prenatal steroid exposure worsened insulin resistance in animals fed a high-fat diet. PMID:27070590

  11. Programming Effects of Prenatal Glucocorticoid Exposure with a Postnatal High-Fat Diet in Diabetes Mellitus.

    PubMed

    Sheen, Jiunn-Ming; Hsieh, Chih-Sung; Tain, You-Lin; Li, Shih-Wen; Yu, Hong-Ren; Chen, Chih-Cheng; Tiao, Miao-Meng; Chen, Yu-Chieh; Huang, Li-Tung

    2016-04-08

    Increasing evidence has shown that many chronic diseases originate from early life, even before birth, through what are termed as fetal programming effects. Glucocorticoids are frequently used prenatally to accelerate the maturation of the lungs of premature infants. High-fat diets are associated with insulin resistance, but the effects of prenatal glucocorticoid exposure plus a postnatal high-fat diet in diabetes mellitus remain unclear. We administered pregnant Sprague-Dawley rats' intraperitoneal dexamethasone (0.1 mg/kg body weight) or vehicle at gestational days 14-20. Male offspring were administered a normal or high-fat diet starting from weaning. We assessed the effects of prenatal steroid exposure plus postnatal high-fat diet on the liver, pancreas, muscle and fat at postnatal day 120. At 15 and 30 min, sugar levels were higher in the dexamethasone plus high-fat diet (DHF) group than the vehicle plus high-fat diet (VHF) group in the intraperitoneal glucose tolerance test (IPGTT). Serum insulin levels at 15, 30 and 60 min were significantly higher in the VHF group than in the vehicle and normal diet group. Liver insulin receptor and adenosine monophosphate-activated protein kinase mRNA expressions and protein levels were lower in the DHF group. Insulin receptor and insulin receptor substrate-1 mRNA expressions were lower in the epididymal adipose tissue in the VHF and DHF groups. "Programming" of liver or epididymal adipose tissue resulted from prenatal events. Prenatal steroid exposure worsened insulin resistance in animals fed a high-fat diet.

  12. Sonographic Measurement of the Umbilical Cord and Its Vessels and Their Relation with Fetal Anthropometric Measurements

    PubMed Central

    Rostamzadeh, Sheida; Kalantari, Mojgan; Shahriari, Mona; Shakiba, Madjid

    2015-01-01

    Background: It has been established that presence of lean umbilical cord with reduced Wharton’s jelly in sonographic scans is a fetal marker for risk of small for gestational age at birth. With improvement of ultrasound techniques, more studies have been investigating the alterations of the umbilical cord on pregnancy outcomes. Objectives: To determine the reference ranges of the umbilical cord area during pregnancy and to find out the association between umbilical cord morphometry and fetal anthropometric measurements. Patients and Methods: A cross sectional study was carried out on a study population of 278 low-risk pregnant women between 15 and 41 weeks of gestational age. Fetal anthropometric measurements including biparietal diameter, abdominal circumference, and femur length were calculated. The measurements of the cross-sectional area (CSA) and circumference of the umbilical cord, vein and arteries were done on an adjacent plane to the insertion of umbilical cord into the fetus’s abdomen. The mean and standard deviation of the CSA of the umbilical cord and the 5th, 10th, 50th, 90th, 95th percentiles of it were calculated for each gestational age. Pearson correlation coefficient was used to assess the correlation between the measures of the cord and fetal anthropometric measurements. Polynomial regression analysis was performed for curves. Results: The values of the CSA of the umbilical cord, umbilical vein and Wharton’s jelly (WJ) increase consistently until 30 weeks of gestation, after which they reach a plateau. There was a significant correlation between anthropometric measurements and umbilical cord measurements especially with the CSA of the umbilical cord, umbilical vein and WJ. The regression equation for the umbilical cord CSA according to gestational age up to 30 weeks was y = -0.2159 x2 + 23.828x-325.59 (R2 = 0.6334) and for the WJ area according to gestational age up to 30 weeks, it was y = -0.2124 x 2 +17.613x-221.66 (R2 = 0

  13. Early Detection of Drug-Induced Renal Hemodynamic Dysfunction Using Sonographic Technology in Rats

    PubMed Central

    Fisch, Sudeshna; Liao, Ronglih; Hsiao, Li-Li; Lu, Tzongshi

    2016-01-01

    The kidney normally functions to maintain hemodynamic homeostasis and is a major site of damage caused by drug toxicity. Drug-induced nephrotoxicity is estimated to contribute to 19- 25% of all clinical cases of acute kidney injury (AKI) in critically ill patients. AKI detection has historically relied on metrics such as serum creatinine (sCr) or blood urea nitrogen (BUN) which are demonstrably inadequate in full assessment of nephrotoxicity in the early phase of renal dysfunction. Currently, there is no robust diagnostic method to accurately detect hemodynamic alteration in the early phase of AKI while such alterations might actually precede the rise in serum biomarker levels. Such early detection can help clinicians make an accurate diagnosis and help in in decision making for therapeutic strategy. Rats were treated with Cisplatin to induce AKI. Nephrotoxicity was assessed for six days using high-frequency sonography, sCr measurement and upon histopathology of kidney. Hemodynamic evaluation using 2D and Color-Doppler images were used to serially study nephrotoxicity in rats, using the sonography. Our data showed successful drug-induced kidney injury in adult rats by histological examination. Color-Doppler based sonographic assessment of AKI indicated that resistive-index (RI) and pulsatile-index (PI) were increased in the treatment group; and peak-systolic velocity (mm/s), end-diastolic velocity (mm/s) and velocity-time integral (VTI, mm) were decreased in renal arteries in the same group. Importantly, these hemodynamic changes evaluated by sonography preceded the rise of sCr levels. Sonography-based indices such as RI or PI can thus be useful predictive markers of declining renal function in rodents. From our sonography-based observations in the kidneys of rats that underwent AKI, we showed that these noninvasive hemodynamic measurements may consider as an accurate, sensitive and robust method in detecting early stage kidney dysfunction. This study also

  14. Regional disparities in prenatal care services in rural China.

    PubMed

    Lu, Jun; Shen, Jay J; Chen, Gang; Moseley, Charles B; Sun, Mei; Gao, Fei; Wang, Ying; Mao, Yuming; Hao, Mo

    2011-09-01

    The study compared the prenatal care programs in the Central-East, Northwest, and Southwest regions of China. Data were collected on 14 indicators of the quality of the prenatal care process, as well as the percentage of women with high-risk pregnancies who were screened. The average number of prenatal examinations for those women who received prenatal care was 5.01, and 62.6% of pregnant women had their first examination within 12 weeks of their pregnancy. About 35% of these pregnant women had at least 1 high-risk screening, and 20.8% had 3 high-risk screenings. Among the 3 regions, the Central-East region had the best overall quality prenatal services, and the Northwest area had the poorest quality. The quality of prenatal health care in poor, rural China is in need of improvement.

  15. Religious Traditions and Prenatal Genetic Counseling

    PubMed Central

    Anderson, Rebecca Rae

    2009-01-01

    Members of organized religious groups may look to their faith traditions for guidance regarding the moral implications of prenatal diagnosis and intervention. Many denominations have doctrinal statements relevant to these deliberations. In this paper, common spiritual issues arising in the genetic counseling encounter are described. Representative doctrinal positions, derived from the responses of 31 U.S. religious denominations to a survey relating to prenatal genetic counseling, are given. Because the long-term adjustment of patients may be dependent in part on their ability to reconcile their actions with their faith traditions, genetic counselors best serve their patients when they invite discussion of matters of faith. Unless invited, patients may assume these topics are ‘off limits’ or that care providers are indifferent to their beliefs. Although genetics professionals ought not assume the role of spiritual advisor, a working knowledge of doctrinal approaches should help counselors frame the issues, and avoid missteps. PMID:19170093

  16. Prenatal nutritional influence on skeletal development.

    PubMed

    Curtis, Elizabeth; Cheah, Jonathan; Harvey, Nicholas C

    2013-01-01

    There is increasing evidence to suggest that prenatal nutritional factors may have long-term effects on the offspring. Osteoporosis is a worldwide public health problem leading to both morbidity and mortality, through associated bone fractures. Although in clinical practice most effort in fracture prevention is aimed at slowing the rate of age-related bone loss, there is accumulating evidence that peak bone mass, achieved in early adulthood, is an important factor in determining bone strength in later life. A variety of studies have shown that peak bone mass is influenced by early life events, including nutrition in the prenatal period. This chapter will use the example of bone development to consider the effects of maternal diet and nutritional status on the offspring. PMID:23428680

  17. Structural chromosomal mosaicism and prenatal diagnosis.

    PubMed

    Pipiras, E; Dupont, C; Chantot-Bastaraud, S; Siffroi, J P; Bucourt, M; Batallan, A; Largillière, C; Uzan, M; Wolf, J P; Benzacken, B

    2004-02-01

    True structural chromosomal mosaicism are rare events in prenatal cytogenetics practice and may lead to diagnostic and prognostic problems. Here is described the case of a fetus carrying an abnormal chromosome 15 made of a whole chromosome 2p translocated on its short arm in 10% of the cells, in association with a normal cell line. The fetal karyotype was 46,XX,add(15)(p10).ish t(2;15)(p10;q10)(WCP2+)[3]/46,XX[27]. Pregnancy was terminated and fetus examination revealed a growth retardation associated with a dysmorphism including dolichocephaly, hypertelorism, high forehead, low-set ears with prominent anthelix and a small nose, which were characteristic of partial trisomy 2p. Possible aetiologies for prenatal mosaicism involving a chromosomal structural abnormality are discussed. PMID:14974115

  18. Noninvasive prenatal testing: limitations and unanswered questions.

    PubMed

    Lutgendorf, Monica A; Stoll, Katie A; Knutzen, Dana M; Foglia, Lisa M

    2014-04-01

    The clinical use of noninvasive prenatal testing to screen high-risk patients for fetal aneuploidy is becoming increasingly common. Initial studies have demonstrated high sensitivity and specificity, and there is hope that these tests will result in a reduction of invasive diagnostic procedures as well as their associated risks. Guidelines on the use of this testing in clinical practice have been published; however, data on actual test performance in a clinical setting are lacking, and there are no guidelines on quality control and assurance. The different noninvasive prenatal tests employ complex methodologies, which may be challenging for health-care providers to understand and utilize in counseling patients, particularly as the field continues to evolve. How these new tests should be integrated into current screening programs and their effect on health-care costs remain uncertain. PMID:24009001

  19. Chromosomal Microarray versus Karyotyping for Prenatal Diagnosis

    PubMed Central

    Wapner, Ronald J.; Martin, Christa Lese; Levy, Brynn; Ballif, Blake C.; Eng, Christine M.; Zachary, Julia M.; Savage, Melissa; Platt, Lawrence D.; Saltzman, Daniel; Grobman, William A.; Klugman, Susan; Scholl, Thomas; Simpson, Joe Leigh; McCall, Kimberly; Aggarwal, Vimla S.; Bunke, Brian; Nahum, Odelia; Patel, Ankita; Lamb, Allen N.; Thom, Elizabeth A.; Beaudet, Arthur L.; Ledbetter, David H.; Shaffer, Lisa G.; Jackson, Laird

    2013-01-01

    Background Chromosomal microarray analysis has emerged as a primary diagnostic tool for the evaluation of developmental delay and structural malformations in children. We aimed to evaluate the accuracy, efficacy, and incremental yield of chromosomal microarray analysis as compared with karyotyping for routine prenatal diagnosis. Methods Samples from women undergoing prenatal diagnosis at 29 centers were sent to a central karyotyping laboratory. Each sample was split in two; standard karyotyping was performed on one portion and the other was sent to one of four laboratories for chromosomal microarray. Results We enrolled a total of 4406 women. Indications for prenatal diagnosis were advanced maternal age (46.6%), abnormal result on Down’s syndrome screening (18.8%), structural anomalies on ultrasonography (25.2%), and other indications (9.4%). In 4340 (98.8%) of the fetal samples, microarray analysis was successful; 87.9% of samples could be used without tissue culture. Microarray analysis of the 4282 nonmosaic samples identified all the aneuploidies and unbalanced rearrangements identified on karyotyping but did not identify balanced translocations and fetal triploidy. In samples with a normal karyotype, microarray analysis revealed clinically relevant deletions or duplications in 6.0% with a structural anomaly and in 1.7% of those whose indications were advanced maternal age or positive screening results. Conclusions In the context of prenatal diagnostic testing, chromosomal microarray analysis identified additional, clinically significant cytogenetic information as compared with karyotyping and was equally efficacious in identifying aneuploidies and unbalanced rearrangements but did not identify balanced translocations and triploidies. (Funded by the Eunice Kennedy Shriver National Institute of Child Health and Human Development and others; ClinicalTrials.gov number, NCT01279733.) PMID:23215555

  20. Group Prenatal Care: Model Fidelity and Outcomes

    PubMed Central

    NOVICK, Gina; REID, Allecia E.; LEWIS, Jessica; KERSHAW, Trace S.; RISING, Sharon S.; ICKOVICS, Jeannette R.

    2013-01-01

    Objective CenteringPregnancy group prenatal care has been demonstrated to improve pregnancy outcomes. However, there is likely variation in how the model is implemented in clinical practice, which may be associated with efficacy, and therefore variation, in outcomes. We examined the association of fidelity to process and content of the CenteringPregnancy group prenatal care model with outcomes previously shown to be affected in a clinical trial: preterm birth, adequacy of prenatal care and breastfeeding initiation. Study Design Participants were 519 women who received CenteringPregnancy group prenatal care. Process fidelity reflected how facilitative leaders were and how involved participants were in each session. Content fidelity reflected whether recommended content was discussed in each session. Fidelity was rated at each session by a trained researcher. Preterm birth and adequacy of care were abstracted from medical records. Participants self-reported breastfeeding initiation at 6-months postpartum. Results Controlling for important clinical predictors, greater process fidelity was associated with significantly lower odds of both preterm birth (B=−0.43, Wald χ2=8.65, P=.001) and intensive utilization of care (B=−0.29, Wald χ2=3.91, P=.05). Greater content fidelity was associated with lower odds of intensive utilization of care (B=−0.03, Wald χ2=9.31, P=.001). Conclusion Maintaining fidelity to facilitative group processes in CenteringPregnancy was associated with significant reductions in preterm birth and intensive care utilization of care. Content fidelity also was associated with reductions in intensive utilization of care. Clinicians learning to facilitate group care should receive training in facilitative leadership, emphasizing the critical role that creating a participatory atmosphere can play in improving outcomes. PMID:23524175

  1. Prenatal Carrier Screening for Spinal Muscular Atrophy.

    PubMed

    Wood, S Lindsay; Brewer, Fallon; Ellison, Rebecca; Biggio, Joseph R; Edwards, Rodney K

    2016-10-01

    Introduction Spinal muscular atrophy (SMA), a neurodegenerative genetic disorder, affects 1:5,000 to 1:10,000 infants. Carrier rates are 1:25 to 1:50. We implemented ACOG-endorsed prenatal SMA screening in mid-2014 and sought to assess uptake, observed carrier rate, and providers' knowledge and attitudes toward genetic conditions and carrier screening. Methods Retrospective cohort study of all patients receiving prenatal genetic counseling at our institution from August 2014 to April 2015. Factors associated with screening uptake were assessed. Proportions who accepted screening, were screen-positive, had partners tested, had partners who were screen-positive, and had fetuses tested were calculated. Providers' knowledge and attitudes were assessed using a validated questionnaire. Results Of 1,158 patients offered SMA screening, 224 accepted (19.3%, 95% CI 17.2-21.7). Uptake differed by race, parity, religion, and genetic counselor seen. Five (2.2% or 1:45, 95% CI 0.8-5.3 or 1:19-1:125) women were identified as carriers. Of 3 partners screened, none screened positive (0%, 95% CI 0-5.3). There were no prenatal SMA diagnoses (0%, 95% CI 0-1.4). Of 90 survey respondents, 42% incorrectly answered 1 of 9 knowledge questions. Provider attitudes toward screening were contradictory. Conclusion Despite significant resources utilized, prenatal SMA carrier screening identified no fetal cases. Cost-effectiveness and other barriers should be considered prior to large-scale adoption of more comprehensive genetic screening. PMID:27611803

  2. Prenatal programming of neuroendocrine reproductive function.

    PubMed

    Evans, Neil P; Bellingham, Michelle; Robinson, Jane E

    2016-07-01

    It is now well recognized that the gestational environment can have long-lasting effects not only on the life span and health span of an individual but also, through potential epigenetic changes, on future generations. This article reviews the "prenatal programming" of the neuroendocrine systems that regulate reproduction, with a specific focus on the lessons learned using ovine models. The review examines the critical roles played by steroids in normal reproductive development before considering the effects of prenatal exposure to exogenous steroid hormones including androgens and estrogens, the effects of maternal nutrition and stress during gestation, and the effects of exogenous chemicals such as alcohol and environment chemicals. In so doing, it becomes evident that, to maximize fitness, the regulation of reproduction has evolved to be responsive to many different internal and external cues and that the GnRH neurosecretory system expresses a degree of plasticity throughout life. During fetal life, however, the system is particularly sensitive to change and at this time, the GnRH neurosecretory system can be "shaped" both to achieve normal sexually differentiated function but also in ways that may adversely affect or even prevent "normal function". The exact mechanisms through which these programmed changes are brought about remain largely uncharacterized but are likely to differ depending on the factor, the timing of exposure to that factor, and the species. It would appear, however, that some afferent systems to the GnRH neurons such as kisspeptin, may be critical in this regard as it would appear to be sensitive to a wide variety of factors that can program reproductive function. Finally, it has been noted that the prenatal programming of neuroendocrine reproductive function can be associated with epigenetic changes, which would suggest that in addition to direct effects on the exposed offspring, prenatal programming could have transgenerational effects on

  3. Prenatal investments, breastfeeding, and birth order.

    PubMed

    Buckles, Kasey; Kolka, Shawna

    2014-10-01

    Mothers have many opportunities to invest in their own or their child's health and well-being during pregnancy and immediately after birth. These investments include seeking prenatal care, taking prenatal vitamins, and breastfeeding. In this paper, we investigate a potential determinant of mothers' investments that has been largely overlooked by previous research-birth order. Data are from the National Longitudinal Study of Youth 1979 (NLSY79) Child and Young Adult Survey, which provides detailed information on pre- and post-natal behaviors of women from the NLSY79. These women were between the ages of 14 and 22 in 1979, and form a nationally representative sample of youth in the United States. Our sample includes births to these women between 1973 and 2010 (10,328 births to 3755 mothers). We use fixed effects regression models to estimate within-mother differences in pre- and post-natal behaviors across births. We find that mothers are 6.6 percent less likely to take prenatal vitamins in a fourth or higher-order birth than in a first and are 10.6 percent less likely to receive early prenatal care. Remarkably, mothers are 15.4 percent less likely to breastfeed a second-born child than a first, and are 20.9 percent less likely to breastfeed a fourth or higher-order child. These results are not explained by changing attitudes toward investments over time. These findings suggest that providers may want to increase efforts to encourage these behaviors at women with higher parity. The results also identify a potential mechanism for the emergence of differences in health and other outcomes across birth orders.

  4. Prenatal diagnosis of thalassemia and hemoglobinopathies in Thailand: experience from 100 pregnancies.

    PubMed

    Fucharoen, S; Winichagoon, P; Thonglairoam, V; Siriboon, W; Siritanaratkul, N; Kanokpongsakdi, S; Vantanasiri, C

    1991-03-01

    In this review, we describe a simple strategy to detect the three severe thalassemic diseases commonly found in Thailand. Hb Bart's hydrops fetalis can be detected unambiguously by ultrasonography at 18-20 weeks of gestation or detected early in the first trimester by the gene amplification technique. Prenatal diagnosis for homozygous beta-thalassemia is better performed in the second trimester by in vitro protein synthesis. This is because the molecular defects of some beta-thalassemias are still unknown and homozygosity of the same mutation is low. In contrast, beta-thalassemia/Hb E is easily detected, in the first trimester, by direct visualization on electrophoresis or by dot blot analysis of enzymatically amplified DNA with a set of nonradioactively labeled oligonucleotide probes complementary to the most common mutations. We also found that the beta/gamma synthesis ratio in homozygous Hb E is similar to that of beta-thalassemia/Hb E and DNA analysis is the only method to distinguish these two conditions in the couple at risk of having either beta-thalassemia/Hb E or asymptomatic homozygous Hb E. In 100 pregnancies studied, the diagnoses were achieved in 96 pregnancies. Complications leading to fetal loss were found in 3 pregnancies: one woman developed amnionitis after fetal blood sampling; one had amniotic fluid leakage after the biopsy, and the third, carrying a normal fetus, aborted 10 days after fetal blood sampling with urinary tract infection and high fever. However, these figures are compatible with other reports and the risks are significantly lower than that of thalassemic disease the fetus is facing. One case of beta-thalassemia/Hb E was incorrectly diagnosed prenatally as being Hb E trait. In twenty-five pregnancies (25%) prenatally diagnosed to carry affected fetuses it was decided to have abortion. This study shows the feasibility of prenatal diagnosis for thalassemic diseases in Thailand which, in addition to screening and genetic counseling

  5. Prenatal Methamphetamine Use and Neonatal Neurobehavioral Outcome

    PubMed Central

    Smith, Lynne M.; LaGasse, Linda L.; Derauf, Chris; Grant, Penny; Shah, Rizwan; Arria, Amelia; Huestis, Marilyn; Haning, William; Strauss, Arthur; Grotta, Sheri Della; Fallone, Melissa; LiuPhD, Jing; Lester, Barry M.

    2008-01-01

    Background Methamphetamine (MA) use among pregnant women is an increasing problem in the United States. How prenatal MA exposure affects neonatal neurobehavior is unknown. Objective To examine the neurobehavioral effects of prenatal MA exposure. Design The Infant Development, Environment and Lifestyle (IDEAL) study screened 13,808 subjects and 1632 were eligible and consented. 166 (n=74 exposed) were enrolled in a longitudinal follow up. Exposure was determined by meconium assay and self-report with alcohol, marijuana, and tobacco present in both groups. The NICU Network Neurobehavioral Scale (NNNS) was administered within the first 5 days of life. Analyses conducted on NNNS summary scores included exposure group effects, heavy MA use effects, association with frequency of use by trimester, and dose-response relationships with amphetamine metabolites. Results After adjusting for covariates, exposure to MA was associated with increased physiological stress. Heavy MA use was related to lower arousal, more lethargy, and increased physiological stress. First trimester MA use was related to elevated physiological stress. Third trimester use was related to poorer quality of movement. Higher level of amphetamine metabolites in meconium was associated with increased CNS stress. Conclusions Prenatal MA exposure was associated with neurobehavioral patterns of decreased arousal, increased stress, and poor quality of movement. The dose response relationships may represent neurotoxic effects from MA. PMID:18031987

  6. The Epigenetic Effects of Prenatal Cadmium Exposure.

    PubMed

    Vilahur, Nadia; Vahter, Marie; Broberg, Karin

    2015-06-01

    Prenatal exposure to the highly toxic and common pollutant cadmium has been associated with adverse effects on child health and development. However, the underlying biological mechanisms of cadmium toxicity remain partially unsolved. Epigenetic disruption due to early cadmium exposure has gained attention as a plausible mode of action, since epigenetic signatures respond to environmental stimuli and the fetus undergoes drastic epigenomic rearrangements during embryogenesis. In the current review, we provide a critical examination of the literature addressing prenatal cadmium exposure and epigenetic effects in human, animal, and in vitro studies. We conducted a PubMed search and obtained eight recent studies addressing this topic, focusing almost exclusively on DNA methylation. These studies provide evidence that cadmium alters epigenetic signatures in the DNA of the placenta and of the newborns, and some studies indicated marked sexual differences for cadmium-related DNA methylation changes. Associations between early cadmium exposure and DNA methylation might reflect interference with de novo DNA methyltransferases. More studies, especially those including environmentally relevant doses, are needed to confirm the toxicoepigenomic effects of prenatal cadmium exposure and how that relates to the observed health effects of cadmium in childhood and later life.

  7. In defense of prenatal genetic interventions.

    PubMed

    Murphy, Timothy F

    2014-09-01

    Jürgen Habermas has argued against prenatal genetic interventions used to influence traits on the grounds that only biogenetic contingency in the conception of children preserves the conditions that make the presumption of moral equality possible. This argument fails for a number of reasons. The contingency that Habermas points to as the condition of moral equality is an artifact of evolutionary contingency and not inviolable in itself. Moreover, as a precedent for genetic interventions, parents and society already affect children's traits, which is to say there is moral precedent for influencing the traits of descendants. A veil-of-ignorance methodology can also be used to justify prenatal interventions through its method of advance consent and its preservation of the contingency of human identities in a moral sense. In any case, the selection of children's traits does not undermine the prospects of authoring a life since their future remains just as contingent morally as if no trait had been selected. Ironically, the prospect of preserving human beings as they are--to counteract genetic drift--might even require interventions to preserve the ability to author a life in a moral sense. In light of these analyses, Habermas' concerns about prenatal genetic interventions cannot succeed as objections to their practice as a matter of principle; the merits of these interventions must be evaluated individually.

  8. Psychosocial determinants of late prenatal care: the Health Belief Model.

    PubMed

    Bluestein, D; Rutledge, C M

    1993-04-01

    This paper presents a theoretical framework for investigating psychosocial determinants of delayed prenatal care among disadvantaged women. This framework is based on the Health Belief Model (HBM), which postulates that beliefs concerning prenatal care are modified by psychological and social attributes and may predispose one to delay prenatal care enrollment. The HBM has a number of advantages for family medicine researchers in comparison to other models; its use in future investigations can provide the understanding necessary for overcoming psychosocial deterrents to entry into prenatal care.

  9. Prenatal diagnosis of Crigler-Najjar syndrome type I by single-strand conformation polymorphism (SSCP).

    PubMed

    Francoual, Jeanne; Trioche, Pascale; Mokrani, Chahnez; Seboui, Hassen; Khrouf, Naïma; Chalas, Jacqueline; Clement, Marina; Capel, Liliane; Tachdjian, Gérard; Labrune, Philippe

    2002-10-01

    Crigler-Najjar syndrome type I (CN-I) is a rare and severe inherited disorder of bilirubin metabolism, caused by the total deficiency of bilirubin-UDP-glucuronosyltransferase (UGT) activity. Enzymatic diagnosis cannot be performed in chorionic villi or amniocytes as UGT is not active in these tissues. The cloning of the UGT1 gene and the identification of disease-causing mutations have led to the possibility of performing DNA-based diagnosis. Here we report DNA-based prenatal diagnosis of CN-I in two Tunisian families in whom CN-I patients were diagnosed. As we had previously shown that CN-I was, in Tunisia, associated with homozygosity for the Q357R mutation within the UGT1 gene, we were able to detect this mutation in both families and to show that it was easily recognized by single-strand conformation polymorphism (SSCP) analysis. In both cases, SSCP analysis of fetal DNA showed that the fetus was heterozygous for the Q357R mutation. In one family, the pregnancy was carried to term and a healthy baby was born, whereas, in the other family, the pregnancy is still continuing. Thus the prenatal diagnosis of CN-I is possible, provided disease-causing mutations have been identified. SSCP analysis of DNA prepared either from amniocytes or from chorionic villi is a simple, reliable and fast method for prenatal diagnosis.

  10. A re-examination of the use of ethnicity in prenatal carrier testing.

    PubMed

    Ross, Lainie Friedman

    2012-01-01

    In April 2011, the American Congress of Obstetricians and Gynecologists (formerly the American College of Obstetrics and Gynecology [ACOG]), updated its policy on carrier screening for cystic fibrosis and proposed that because of the increasing difficulty in assigning a single ethnicity to individuals, "It is reasonable, therefore to offer CF carrier screening to all patients." However, ACOG continues to use ethnicity in its guidelines about carrier testing for autosomal recessive disorders like sickle cell disease (SCD) and Tay-Sachs disease (TSD). This practice is in marked contrast with newborn screening (NBS) which is universally provided for all conditions. In this manuscript, I evaluate the discrepant role of ethnicity in NBS and carrier screening. I argue that ACOG needs to adopt the position it now takes for CF regarding prenatal carrier testing for all conditions. To promote equity in prenatal testing decision making, health care policies must acknowledge the diversity of the populations that we serve and empower all women and couples to make more fully informed reproductive decisions by offering prenatal carrier testing to all. PMID:22106058

  11. The prenatal diagnosis of the cerebro-hepato-renal syndrome of Zellweger.

    PubMed

    Solish, G I; Moser, H W; Ringer, L D; Moser, A E; Tiffany, C; Schutta, E

    1985-01-01

    The prenatal diagnosis of the cerebro-hepato-renal syndrome of Zellweger (CHRS) was made by assaying the levels of very long chain fatty acids (VLCFAs) in amniotic fluid cell cultures, obtained by amniocentesis at 16 1/2 weeks of pregnancy. The family-at-risk, because they had previously borne a child with CHRS, accepted these results as indications of an affected fetus, and chose to terminate the pregnancy at 20 1/2 weeks of gestation. The diagnosis was confirmed by the phenotype of the aborted fetus and the presence of markedly elevated levels of VLCFAs in fetal liver homogenates. The prenatal diagnosis of CHRS, which can now readily be determined from amniotic fluid cell cultures, is an important step in genetic counselling of families-at-risk for this disease.

  12. Sonographic imaging of extra-testicular focal lesions: comparison of grey-scale, colour Doppler and contrast-enhanced ultrasound.

    PubMed

    Rafailidis, Vasileios; Robbie, Hasti; Konstantatou, Eleni; Huang, Dean Y; Deganello, Annamaria; Sellars, Maria E; Cantisani, Vito; Isidori, Andrea M; Sidhu, Paul S

    2016-02-01

    Extra-testicular lesions are usually benign but present with nonspecific grey-scale sonography findings. This study assesses conventional sonographic characteristics in the differentiation of extra-testicular tumoural from inflammatory lesions and whether contrast-enhanced ultrasound has a role. A retrospective database analysis was performed. All patients were examined by experienced sonographers employing standard techniques combining grey-scale, colour Doppler sonography and contrast-enhanced ultrasound. Features recorded were: clinical symptoms, size, location, echogenicity, colour Doppler sonography and contrast-enhanced ultrasound enhancement. Vascularity on colour Doppler sonography and contrast-enhanced ultrasound was graded and compared. The lesions were classified as tumoural or inflammatory. The Chi-square test was used to analyse the sonographic patterns and kappa coefficient to measure the agreement between colour Doppler sonography and contrast-enhanced ultrasound. A total of 30 lesions were reviewed (median diameter 12 mm, range 5-80 mm, median age 52 years, range 18-86 years), including 13/30 tumoural and 17/30 inflammatory lesions. Lesions were hypoechoic (n = 12), isoechoic (n = 6), hyperechoic (n = 2) or mixed (n = 10). Grey-scale characteristics of tumoural vs. inflammatory lesions differed significantly (P = 0.026). On colour Doppler sonography, lesions had no vessels (n = 16), 2-3 vessels (n = 10) and ≥4 vessels (n = 4). On contrast-enhanced ultrasound, lesions showed no vascularity (n = 17), perfusion similar to testis (n = 7) and higher (n = 6). All abscesses identified (n = 9) showed no vascularity on both colour Doppler sonography and contrast-enhanced ultrasound. There was good agreement between these techniques in evaluating vascularity (κ = 0.719) and no significant difference between colour Doppler sonography and contrast-enhanced ultrasound of tumoural vs. inflammatory lesions

  13. Prenatal stress alters amygdala functional connectivity in preterm neonates.

    PubMed

    Scheinost, Dustin; Kwon, Soo Hyun; Lacadie, Cheryl; Sze, Gordon; Sinha, Rajita; Constable, R Todd; Ment, Laura R

    2016-01-01

    Exposure to prenatal and early-life stress results in alterations in neural connectivity and an increased risk for neuropsychiatric disorders. In particular, alterations in amygdala connectivity have emerged as a common effect across several recent studies. However, the impact of prenatal stress exposure on the functional organization of the amygdala has yet to be explored in the prematurely-born, a population at high risk for neuropsychiatric disorders. We test the hypothesis that preterm birth and prenatal exposure to maternal stress alter functional connectivity of the amygdala using two independent cohorts. The first cohort is used to establish the effects of preterm birth and consists of 12 very preterm neonates and 25 term controls, all without prenatal stress exposure. The second is analyzed to establish the effects of prenatal stress exposure and consists of 16 extremely preterm neonates with prenatal stress exposure and 10 extremely preterm neonates with no known prenatal stress exposure. Standard resting-state functional magnetic resonance imaging and seed connectivity methods are used. When compared to term controls, very preterm neonates show significantly reduced connectivity between the amygdala and the thalamus, the hypothalamus, the brainstem, and the insula (p < 0.05). Similarly, when compared to extremely preterm neonates without exposure to prenatal stress, extremely preterm neonates with exposure to prenatal stress show significantly less connectivity between the left amygdala and the thalamus, the hypothalamus, and the peristriate cortex (p < 0.05). Exploratory analysis of the combined cohorts suggests additive effects of prenatal stress on alterations in amygdala connectivity associated with preterm birth. Functional connectivity from the amygdala to other subcortical regions is decreased in preterm neonates compared to term controls. In addition, these data, for the first time, suggest that prenatal stress exposure amplifies these

  14. Prenatal stress alters amygdala functional connectivity in preterm neonates.

    PubMed

    Scheinost, Dustin; Kwon, Soo Hyun; Lacadie, Cheryl; Sze, Gordon; Sinha, Rajita; Constable, R Todd; Ment, Laura R

    2016-01-01

    Exposure to prenatal and early-life stress results in alterations in neural connectivity and an increased risk for neuropsychiatric disorders. In particular, alterations in amygdala connectivity have emerged as a common effect across several recent studies. However, the impact of prenatal stress exposure on the functional organization of the amygdala has yet to be explored in the prematurely-born, a population at high risk for neuropsychiatric disorders. We test the hypothesis that preterm birth and prenatal exposure to maternal stress alter functional connectivity of the amygdala using two independent cohorts. The first cohort is used to establish the effects of preterm birth and consists of 12 very preterm neonates and 25 term controls, all without prenatal stress exposure. The second is analyzed to establish the effects of prenatal stress exposure and consists of 16 extremely preterm neonates with prenatal stress exposure and 10 extremely preterm neonates with no known prenatal stress exposure. Standard resting-state functional magnetic resonance imaging and seed connectivity methods are used. When compared to term controls, very preterm neonates show significantly reduced connectivity between the amygdala and the thalamus, the hypothalamus, the brainstem, and the insula (p < 0.05). Similarly, when compared to extremely preterm neonates without exposure to prenatal stress, extremely preterm neonates with exposure to prenatal stress show significantly less connectivity between the left amygdala and the thalamus, the hypothalamus, and the peristriate cortex (p < 0.05). Exploratory analysis of the combined cohorts suggests additive effects of prenatal stress on alterations in amygdala connectivity associated with preterm birth. Functional connectivity from the amygdala to other subcortical regions is decreased in preterm neonates compared to term controls. In addition, these data, for the first time, suggest that prenatal stress exposure amplifies these

  15. Maternal obesity and prenatal programming.

    PubMed

    Elshenawy, Summer; Simmons, Rebecca

    2016-11-01

    Obesity is a significant and increasing public health concern in the United States and worldwide. Clinical and epidemiological evidence clearly shows that genetic and environmental factors contribute to the increased susceptibility of humans to obesity and its associated comorbidities; the interplay of these factors is explained by the concept of epigenetics. The impact of maternal obesity goes beyond the newborn period; fetal programming during the critical window of pregnancy, can have long term detrimental effects on the offspring as well as future generations. Emerging evidence is uncovering a link between the clinical and molecular findings in the offspring with epigenetic changes in the setting of maternal obesity. Research targeted towards reducing the transgenerational propagation and developmental programming of obesity is vital in reducing the increasing rates of disease.

  16. Research and Practice Communications Between Oral Health Providers and Prenatal Health Providers: A Bibliometric Analysis.

    PubMed

    Skvoretz, John; Dyer, Karen; Daley, Ellen; Debate, Rita; Vamos, Cheryl; Kline, Nolan; Thompson, Erika

    2016-08-01

    Objectives We aimed to examine scholarly collaboration between oral health and prenatal providers. Oral disease is a silent epidemic with significant public health implications for pregnant women. Evidence linking poor oral health during pregnancy to adverse pregnancy and birth outcomes requires oral health and prenatal providers to communicate on the prevention, treatment and co-management matters pertaining to oral health issues among their pregnant patients. The need for inter-professional collaboration is highlighted by guidelines co-endorsed by the American College of Obstetricians and Gynecologists and the American Dental Association, stressing the importance of oral health care during pregnancy. Methods To assess if interdisciplinary communication occurs between oral health and prenatal disciplines, we conducted a network analysis of research on pregnancy-related periodontal disease. Results Social Network analysis allowed us to identify communication patterns between communities of oral health and prenatal professionals via scientific journals. Analysis of networks of citations linking journals in different fields reveals a core-periphery pattern dominated by oral health journals with some participation from medicine journals. However, an analysis of dyadic ties of citation reveals statistically significant "inbreeding" tendencies in the citation patterns: both medical and oral health journals tend to cite their own kind at greater-than-chance levels. Conclusions Despite evidence suggesting that professional collaboration benefits patients' overall health, findings from this research imply that little collaboration occurs between these two professional groups. More collaboration may be useful in addressing women's oral-systemic health concerns that result in adverse pregnancy outcomes. PMID:27029538

  17. Noninvasive prenatal testing by maternal plasma DNA analysis: current practice and future applications.

    PubMed

    Chiu, Rossa W K

    2014-01-01

    Prenatal screening of fetal chromosomal aneuploidies and some common genetic diseases is an integral part of antenatal care. Definitive prenatal diagnosis is conventionally achieved by the sampling of fetal genetic material by amniocentesis or chorionic villus sampling. Due to the invasiveness of those procedures, they are associated with a 1 in 200 chance of fetal miscarriage. Hence, researchers have been exploring noninvasive ways to sample fetal genetic material. The presence of cell-free DNA released by the fetus into the circulation of its mother was demonstrated in 1997. Circulating fetal DNA is therefore obtainable through the collection of a blood sample from the pregnant woman without posing any physical harm to the fetus. By analyzing this source of fetal genetic material, researchers have succeeded in developing DNA-based noninvasive tests for the assessment of Down syndrome and single gene diseases. Since the end of 2011, tests for the noninvasive assessment of chromosomal aneuploidies have become commercially available in parts of the world. Recommendations from professional groups have since been made regarding how these tests could be incorporated into the framework of existing prenatal screening programs. More recently, cell-free circulating fetal DNA analysis have been shown to be applicable to the deciphering of the fetal molecular karyotype, genome and methylome. It is envisioned that an increasing number of the noninvasive prenatal tests will become clinically available. The ethical, social and legal implications of the introduction of some of these tests would need to be discussed in the context of different cultures, societal values and the legal framework. PMID:25083893

  18. Gene scene: Earlier, eventually more specific, prenatal genetic diagnosis in realm of possibility

    SciTech Connect

    Randall, T.

    1990-12-26

    A new genetic technique that can amplify the DNA of a single cell has flung open the window of opportunity for prenatal genetic diagnosis to just 3 days after conception, and even to the unfertilized egg. In vitro fertilization (IVF) specialists at the Institute of Obstetrics and Gynecology at London's Postgraduate medical School, Hammersmith Hospital have determined the sex of human embryos at the eight-cell stage of development from five couples at risk for X chromosome-linked diseases. The female embryos, which do not risk inheriting the disease, were then successfully implanted in the uterus and carried to full term.

  19. Noninvasive prenatal testing/noninvasive prenatal diagnosis: the position of the National Society of Genetic Counselors.

    PubMed

    Devers, Patricia L; Cronister, Amy; Ormond, Kelly E; Facio, Flavia; Brasington, Campbell K; Flodman, Pamela

    2013-06-01

    The 1997 discovery of free fetal DNA in maternal plasma launched clinical researchers' efforts to establish a reliable method for non-invasive prenatal testing for fetal genetic conditions. Various methods, including, but not limited to, massively parallel sequencing (MPS) and selective analysis of cell-free fetal DNA in maternal plasma, have recently been developed as highly sensitive and specific noninvasive screening tools for common fetal chromosome aneuploidies. Incorporating these new noninvasive technologies into clinical practice will impact the current prenatal screening paradigm for fetal aneuploidy, in which genetic counseling plays an integral role. The National Society of Genetic Counselors (NSGC) currently supports Noninvasive Prenatal Testing/Noninvasive Prenatal Diagnosis (NIPT/NIPD) as an option for patients whose pregnancies are considered to be at an increased risk for certain chromosome abnormalities. NSGC urges that NIPT/NIPD only be offered in the context of informed consent, education, and counseling by a qualified provider, such as a certified genetic counselor. Patients whose NIPT/NIPD results are abnormal, or who have other factors suggestive of a chromosome abnormality, should receive genetic counseling and be given the option of standard confirmatory diagnostic testing.

  20. Sonographic findings in a case of tetrasomy 9p associated with increased nuchal translucency and Dandy-Walker malformation.

    PubMed

    Nakamura-Pereira, Marcos; Cima, Luciana Carneiro do; Llerena, Juan Clinton; Guerra, Fernando Antonio Ramos; Peixoto-Filho, Fernando Maia

    2009-10-01

    We report a case of a 23-year-old pregnant woman, who underwent amniocentesis after ultrasound (US) examination in the first trimester which revealed a nuchal translucency thickness of 2.9 mm. Cytogenetic analysis revealed complete tetrasomy of the short arm of chromosome 9. Further US evaluation in the second trimester revealed Dandy-Walker malformation, ventriculomegaly, bilateral clubfoot, lip and palate clefts, arthrogryposis and hyperechoic kidneys with bilateral pelvic dilatation. At 30 weeks of gestation, a placental abruption was noted and a Cesarean section was performed. The infant died shortly after birth. A review of previous cases of tetrasomy 9p shows that the remarkable sonographic findings are ventriculomegaly, intrauterine growth restriction, genitourinary anomaly, Dandy-Walker malformation, cleft lip/palate and limb malformation, but the association of tetrasomy 9p and increased nuchal translucency had not been reported. PMID:19655321

  1. Prenatal Estrogens and the Development of Homosexual Orientation.

    ERIC Educational Resources Information Center

    Meyer-Bahlburg, Heino F. L.; And Others

    1995-01-01

    Examines the hypothesis that prenatal estrogens contribute to the development of human sexual orientation. Several groups of women with a history of prenatal exposure to diethylstilbestrol (DES) were compared with several samples of control women. Findings showed that more DES-exposed women than controls were rated as bisexual or homosexual,…

  2. Prenatal Care: A Content-Based ESL Curriculum.

    ERIC Educational Resources Information Center

    Hassel, Elissa Anne

    A content-based curriculum in English as a Second Language (ESL) focusing on prenatal self-care is presented. The course was designed as a solution to the problem of inadequate prenatal care for limited-English-proficient Mexican immigrant women. The first three sections offer background information on and discussion of (1) content-based ESL…

  3. Prenatal Exposure to Maternal Depression and Cortisol Influences Infant Temperament

    ERIC Educational Resources Information Center

    Davis, Elysia Poggi; Glynn, Laura M.; Schetter, Christine Dunkel; Hobel, Calvin; Chicz-Demet, Aleksandra; Sandman, Curt A.

    2007-01-01

    Background: Accumulating evidence indicates that prenatal maternal and fetal processes can have a lasting influence on infant and child development. Results from animal models indicate that prenatal exposure to maternal stress and stress hormones has lasting consequences for development of the offspring. Few prospective studies of human pregnancy…

  4. Memory and Brain Volume in Adults Prenatally Exposed to Alcohol

    ERIC Educational Resources Information Center

    Coles, Claire D.; Goldstein, Felicia C.; Lynch, Mary Ellen; Chen, Xiangchuan; Kable, Julie A.; Johnson, Katrina C.; Hu, Xiaoping

    2011-01-01

    The impact of prenatal alcohol exposure on memory and brain development was investigated in 92 African-American, young adults who were first identified in the prenatal period. Three groups (Control, n = 26; Alcohol-related Neurodevelopmental Disorder, n = 36; and Dysmorphic, n = 30) were imaged using structural MRI with brain volume calculated for…

  5. Effects of Prenatal Care on Child Health at Age 5

    PubMed Central

    Noonan, Kelly; Corman, Hope; Schwartz-Soicher, Ofira; Reichman, Nancy E.

    2012-01-01

    Objectives The broad goal of contemporary prenatal care is to promote the health of the mother, child, and family through the pregnancy, delivery, and the child’s development. Although the vast majority of mothers giving birth in developed countries receive prenatal care, past research has not found compelling evidence that early or adequate prenatal care has favorable effects on birth outcomes. It is possible that prenatal care confers health benefits to the child that do not become apparent until after the perinatal period. Methods Using data from a national urban birth cohort study in the U.S., we estimate the effects of prenatal care on four markers of child health at age 5—maternal-reported health status, asthma diagnosis, overweight, and height. We implement a number of different strategies to address the issue of potential omitted variables bias as well as a large number of specification checks to validate the findings. Results and Conclusions Prenatal care, defined a number of different ways, does not appear to have any effect on the outcomes examined. The findings are robust and suggest that routine health care encounters during the prenatal period could potentially be used more effectively to enhance children’s health trajectories. However, future research is needed to explore the effects of prenatal care on additional child health and developmental outcomes as well as the effects of preconceptional and maternal lifetime helathcare on child health. PMID:22374319

  6. Psychological Functioning of Children Exposed to Cocaine Prenatally.

    ERIC Educational Resources Information Center

    Granick, Samuel

    1995-01-01

    A sample of 25 children exposed prenatally to cocaine was compared with a control group of 18 children not exposed to any drugs prenatally. Using the AGS (American Guidance Service) Screening Profile, results indicated that the control group was significantly superior on all subtests except for the Motor Coordination and Speech Articulation…

  7. Does Rural Residence Affect Access to Prenatal Care in Oregon?

    ERIC Educational Resources Information Center

    Epstein, Beth; Grant, Therese; Schiff, Melissa; Kasehagen, Laurin

    2009-01-01

    Context: Identifying how maternal residential location affects late initiation of prenatal care is important for policy planning and allocation of resources for intervention. Purpose: To determine how rural residence and other social and demographic characteristics affect late initiation of prenatal care, and how residence status is associated…

  8. Triangular congenital cataract morphology associated with prenatal methamphetamine exposure.

    PubMed

    Clarke, Michael E; Schloff, Susan; Bothun, Erick D

    2009-08-01

    Bilateral congenital cataracts are often characterized by morphology, etiology, and related conditions. We report a case of unique congenital cataracts with triangular morphology and associated prenatal methamphetamine exposure. Although this association is likely coincidental, the cataract's morphology in light of the specific timing of prenatal drug use deserves reporting.

  9. Social Behavior of Offspring Following Prenatal Cocaine Exposure in Rodents: A Comparison with Prenatal Alcohol

    PubMed Central

    Sobrian, Sonya K.; Holson, R. R.

    2011-01-01

    Clinical and experimental reports suggest that prenatal cocaine exposure (PCE) alters the offsprings’ social interactions with caregivers and conspecifics. Children exposed to prenatal cocaine show deficits in caregiver attachment and play behavior. In animal models, a developmental pattern of effects that range from deficits in play and social interaction during adolescence, to aggressive reactions during competition in adulthood is seen. This review will focus primarily on the effects of PCE on social behaviors involving conspecifics in animal models. Social relationships are critical to the developing organism; maternally directed interactions are necessary for initial survival. Juvenile rats deprived of play behavior, one of the earliest forms of non-mother directed social behaviors in rodents, show deficits in learning tasks and sexual competence. Social behavior is inherently complex. Because the emergence of appropriate social skills involves the interplay between various conceptual and biological facets of behavior and social information, it may be a particularly sensitive measure of prenatal insult. The social behavior surveyed include social interactions, play behavior/fighting, scent marking, and aggressive behavior in the offspring, as well as aspects of maternal behavior. The goal is to determine if there is a consensus of results in the literature with respect to PCE and social behaviors, and to discuss discrepant findings in terms of exposure models, the paradigms, and dependent variables, as well as housing conditions, and the sex and age of the offspring at testing. As there is increasing evidence that deficits in social behavior may be sequelae of developmental exposure alcohol, we compare changes in social behaviors reported for prenatal alcohol with those reported for prenatal cocaine. Shortcomings in the both literatures are identified and addressed in an effort to improve the translational value of future experimentation. PMID:22144967

  10. Prenatal Brain-Body Allometry in Mammals.

    PubMed

    Halley, Andrew C

    2016-01-01

    Variation in relative brain size among adult mammals is produced by different patterns of brain and body growth across ontogeny. Fetal development plays a central role in generating this diversity, and aspects of prenatal physiology such as maternal relative metabolic rate, altriciality, and placental morphology have been proposed to explain allometric differences in neonates and adults. Primates are also uniquely encephalized across fetal development, but it remains unclear when this pattern emerges during development and whether it is common to all primate radiations. To reexamine these questions across a wider range of mammalian radiations, data on the primarily fetal rapid growth phase (RGP) of ontogenetic brain-body allometry was compiled for diverse primate (np = 12) and nonprimate (nnp = 16) mammalian species, and was complemented by later ontogenetic data in 16 additional species (np = 9; nnp = 7) as well as neonatal proportions in a much larger sample (np = 38; nnp = 83). Relative BMR, litter size, altriciality, and placental morphology fail to predict RGP slopes as would be expected if physiological and life history variables constrained fetal brain growth, but are associated with differences in birth timing along allometric trajectories. Prenatal encephalization is shared by all primate radiations, is unique to the primate Order, and is characterized by: (1) a robust change in early embryonic brain/body proportions, and (2) higher average RGP allometric slopes due to slower fetal body growth. While high slopes are observed in several nonprimate species, primates alone exhibit an intercept shift at 1 g body size. This suggests that primate prenatal encephalization is a consequence of early changes to embryonic neural and somatic tissue growth in primates that remain poorly understood. PMID:27561684

  11. Empowering Women's Prenatal Communication: Does Literacy Matter?

    PubMed

    Roter, Debra L; Erby, Lori H; Rimal, Rajiv N; Smith, Katherine C; Larson, Susan; Bennett, Ian M; Cole, Katie Washington; Guan, Yue; Molloy, Matthew; Bienstock, Jessica

    2015-01-01

    This study was designed to evaluate the impact of an interactive computer program developed to empower prenatal communication among women with restricted literacy skills. A total of 83 women seeing 17 clinicians were randomized to a computer-based communication activation intervention (Healthy Babies Healthy Moms [HBHM]) or prenatal education (Baby Basics [BB]) prior to their prenatal visit. Visit communication was coded with the Roter Interaction Analysis System, and postvisit satisfaction was reported. Participants were on average 24 years of age and 25 weeks pregnant; 80% were African American. Two thirds scored ≤8th grade on a literacy screener. Women with literacy deficits were more verbally active, disclosed more medical and psychosocial/lifestyle information, and were rated as more dominant by coders in the HBHM group relative to their counterparts in the BB group (all ps < .05). Clinicians were less verbally dominant and more patient centered with literate HBHM relative to BB group women (p < .05); there was a similar, nonsignificant trend (p < .1) for lower literate women. Clinicians communicated less medical information and made fewer reassurance statements to lower literate women in the HBHM relative to the BB group (p < .05). There was a trend toward lower visit satisfaction for women with restricted literacy in the HBHM relative to the BB group (p < .1); no difference in satisfaction was evident for more literate women. The HBHM intervention empowered communication of all women and facilitated verbal engagement and relevant disclosure of medical and psychosocial information of women with literacy deficits. Satisfaction, however, tended to be lower for these women.

  12. The Motivation-Facilitation Theory of Prenatal Care Access.

    PubMed

    Phillippi, Julia C; Roman, Marian W

    2013-01-01

    Despite the availability of services, accessing health care remains a problem in the United States and other developed countries. Prenatal care has the potential to improve perinatal outcomes and decrease health disparities, yet many women struggle with access to care. Current theories addressing access to prenatal care focus on barriers, although such knowledge is minimally useful for clinicians. We propose a middle-range theory, the motivation-facilitation theory of prenatal care access, which condenses the prenatal care access process into 2 interacting components: motivation and facilitation. Maternal motivation is the mother's desire to begin and maintain care. Facilitation represents the goal of the clinic to create easy, open access to person-centered beneficial care. This simple model directs the focus of research and change to the interface of the woman and the clinic and encourages practice-level interventions that facilitate women entering and maintaining prenatal care.

  13. Sociodemographic factors and the quality of prenatal care.

    PubMed Central

    Hansell, M J

    1991-01-01

    BACKGROUND: In this study, maternal sociodemographic factors are examined in relationship to the quality of prenatal health services US women receive. METHODS: Data from the 1980 National Natality Survey and 1980 Fetal Mortality Survey were used for the analysis. Indicator variables for prenatal care quality are the percentages of prenatal visits at which blood pressure and urine were tested, the performance of hemoglobin or hematocrit tests, and the presence or absence of advice regarding salt restriction and diuretics usage during pregnancy. RESULTS: Distribution of the basic examinations in prenatal care vary according to marital status, parity, education, and residence in a metropolitan or nonmetropolitan county. The advice received concerning salt and diuretics usage was also influenced by sociodemographic variables. CONCLUSIONS: The analyses reveal that prenatal care is not of even minimally acceptable quality for many women. PMID:1953875

  14. [Toxoplasmosis in pregnancy: prevention, prenatal diagnosis and treatment].

    PubMed

    Hohlfeld, P; Biedermann, K; Extermann, P; Gyr, T

    1995-01-01

    Maternal infection with Toxoplasma gondii acquired during pregnancy occurs in more than 500 women per year in Switzerland. Systematic screening at the beginning of pregnancy allows the introduction of health education programs. The screening during pregnancy is performed to diagnose primary maternal infections and to propose prenatal diagnosis and treatment. The administration of specific antibiotherapy during pregnancy (spiramycine or the association of pyrimethamine and sulfonamides) significantly reduces the risk of fetal infection. Prenatal diagnosis of congenital toxoplasmosis is possible and reliable. It avoids unnecessary termination of pregnancy when the fetus is not infected and specific therapy in case of infection (association of pyrimethamine and sulfonamides). Prenatal treatment may be proposed without prenatal diagnosis as of the 16th week of gestation. In any case, prenatal treatment seems to reduce the incidence of severe congenital toxoplasmosis.

  15. Prenatal diagnosis of ductus arteriosus aneurysm.

    PubMed

    Ganesan, S; Hutchinson, D P; Sampson, A J

    2015-11-01

    The ductus arteriosus holds major functional importance within the fetal circulation, and anomalies within the ductus arteriosus may interfere with the integrity of the fetal circulation. Ductus arteriosus aneurysm, previously considered a rare lesion, is now a well-reported finding in infancy with some reports describing this finding in the prenatal period. Postnatally, most ductus arteriosus aneurysms resolve spontaneously; however, a small group of infants show complications such as connective-tissue disorders, thrombo-embolism, compression of surrounding thoracic structures and life-threatening spontaneous rupture requiring surgical correction. As such, postnatal assessment in this group is recommended. PMID:27433265

  16. Prenatal choline and the development of schizophrenia

    PubMed Central

    FREEDMAN, Robert; ROSS, Randal G.

    2015-01-01

    Background The primary prevention of illness at the population level, the ultimate aim of medicine, seems out of reach for schizophrenia. Schizophrenia has a strong genetic component, and its pathogenesis begins long before the emergence of psychosis, as early as fetal brain development. Cholinergic neurotransmission at nicotinic receptors is a pathophysiological mechanism related to one aspect of this genetic risk. Choline activates these nicotinic receptors during fetal brain development. Dietary supplementation of maternal choline thus emerges as a possible intervention in pregnancy to alter the earliest developmental course of the illness. Aim Review available literature on the relationship of choline supplementation or choline levels during pregnancy and fetal brain development. Methods A Medline search was used to identify studies assessing effects of choline in human fetal development. Studies of other prenatal risk factors for schizophrenia and the role of cholinergic neurotransmission in its pathophysiology were also identified. Results Dietary requirements for choline are high during pregnancy because of its several uses, including membrane biosynthesis, one-carbon metabolism, and cholinergic neurotransmission. Its ability to act directly at high concentrations as a nicotinic agonist is critical for normal brain circuit development. Dietary supplementation in the second and third trimesters with phosphatidyl-choline supports these functions and is associated generally with better fetal outcome. Improvement in inhibitory neuronal functions whose deficit is associated with schizophrenia and attention deficit disorder has been observed. Conclusion Prenatal dietary supplementation with phosphatidyl-choline and promotion of diets rich in choline-containing foods (meats, soybeans, and eggs) are possible interventions to promote fetal brain development and thereby decrease the risk of subsequent mental illnesses. The low risk and short (sixmonth) duration of the

  17. Prenatal and perinatal risk factors of schizophrenia.

    PubMed

    Meli, Giampiero; Ottl, Birgit; Paladini, Angela; Cataldi, Luigi

    2012-12-01

    Schizophrenia could be considered the most severe of all psychiatric disorders. It shows a heterogeneous clinical picture and presents an etiopathogenesis that is not cleared sufficiently. Even if the etiopathogenesis remains a puzzle, there is a scientific consensus that it is an expression of interaction between genotype and environmental factors. In the present article, following a study of literature and the accumulated evidence, the role of prenatal and perinatal factors in the development of schizophrenia will be revised and synthesized. We think that better knowledge of the risk factors could be helpful not only for better comprehension of the pathogenesis but especially to optimize interventions for prevention of the disorder. PMID:22646662

  18. Genome-wide linkage analysis is a powerful prenatal diagnostic tool in families with unknown genetic defects.

    PubMed

    Arélin, Maria; Schulze, Bernt; Müller-Myhsok, Bertram; Horn, Denise; Diers, Alexander; Uhlenberg, Birgit; Nürnberg, Peter; Nürnberg, Gudrun; Becker, Christian; Mundlos, Stefan; Lindner, Tom H; Sperling, Karl; Hoffmann, Katrin

    2013-04-01

    Genome-wide linkage analysis is an established tool to map inherited diseases. To our knowledge it has not been used in prenatal diagnostics of any genetic disorder. We present a family with a severe recessive mental retardation syndrome, where the mother wished pregnancy termination to avoid delivering another affected child. By genome-wide scanning using the Affymetrix (Santa Clara, CA, USA) 10k chip we were able to establish the disease haplotype. Without knowing the exact genetic defect, we excluded the condition in the fetus. The woman finally gave birth to a healthy baby. We suggest that genome-wide linkage analysis--based on either SNP mapping or full-genome sequencing--is a very useful tool in prenatal diagnostics of diseases.

  19. Sensory Processing Disorder in a Primate Model: Evidence from a Longitudinal Study of Prenatal Alcohol and Prenatal Stress Effects

    ERIC Educational Resources Information Center

    Schneider, Mary L.; Moore, Colleen F.; Gajewski, Lisa L.; Larson, Julie A.; Roberts, Andrew D.; Converse, Alexander K.; DeJesus, Onofre T.

    2008-01-01

    Disrupted sensory processing, characterized by over- or underresponsiveness to environmental stimuli, has been reported in children with a variety of developmental disabilities. This study examined the effects of prenatal stress and moderate-level prenatal alcohol exposure on tactile sensitivity and its relationship to striatal dopamine system…

  20. Animal models for prenatal gene therapy: choosing the right model.

    PubMed

    Mehta, Vedanta; Peebles, Donald; David, Anna L

    2012-01-01

    Testing in animal models is an essential requirement during development of prenatal gene therapy for -clinical application. Some information can be derived from cell lines or cultured fetal cells, such as the efficiency of gene transfer and the vector dose that might be required. Fetal tissues can also be maintained in culture for short periods of time and transduced ex vivo. Ultimately, however, the use of animals is unavoidable since in vivo experiments allow the length and level of transgene expression to be measured, and provide an assessment of the effect of the delivery procedure and the gene therapy on fetal and neonatal development. The choice of animal model is determined by the nature of the disease and characteristics of the animal, such as its size, lifespan, and immunology, the number of fetuses and their development, parturition, and the length of gestation and the placentation. The availability of a disease model is also critical. In this chapter, we discuss the various animal models that can be used and consider how their characteristics can affect the results obtained. The projection to human application and the regulatory hurdles are also presented.

  1. The Effect of Prenatal and Childhood Development on Hearing, Vision and Cognition in Adulthood

    PubMed Central

    Dawes, Piers; Cruickshanks, Karen J.; Moore, David R.; Fortnum, Heather; Edmondson-Jones, Mark; McCormack, Abby; Munro, Kevin J.

    2015-01-01

    It is unclear what the contribution of prenatal versus childhood development is for adult cognitive and sensory function and age-related decline in function. We examined hearing, vision and cognitive function in adulthood according to self-reported birth weight (an index of prenatal development) and adult height (an index of early childhood development). Subsets (N = 37,505 to 433,390) of the UK Biobank resource were analysed according to visual and hearing acuity, reaction time and fluid IQ. Sensory and cognitive performance was reassessed after ~4 years (N = 2,438 to 17,659). In statistical modelling including age, sex, socioeconomic status, educational level, smoking, maternal smoking and comorbid disease, adult height was positively associated with sensory and cognitive function (partial correlations; pr 0.05 to 0.12, p < 0.001). Within the normal range of birth weight (10th to 90th percentile), there was a positive association between birth weight and sensory and cognitive function (pr 0.06 to 0.14, p < 0.001). Neither adult height nor birth weight was associated with change in sensory or cognitive function. These results suggest that adverse prenatal and childhood experiences are a risk for poorer sensory and cognitive function and earlier development of sensory and cognitive impairment in adulthood. This finding could have significant implications for preventing sensory and cognitive impairment in older age. PMID:26302374

  2. Prenatal maternal stress and wheeze in children: novel insights into epigenetic regulation

    PubMed Central

    Trump, Saskia; Bieg, Matthias; Gu, Zuguang; Thürmann, Loreen; Bauer, Tobias; Bauer, Mario; Ishaque, Naveed; Röder, Stefan; Gu, Lei; Herberth, Gunda; Lawerenz, Christian; Borte, Michael; Schlesner, Matthias; Plass, Christoph; Diessl, Nicolle; Eszlinger, Markus; Mücke, Oliver; Elvers, Horst-Dietrich; Wissenbach, Dirk K.; von Bergen, Martin; Herrmann, Carl; Weichenhan, Dieter; Wright, Rosalind J.; Lehmann, Irina; Eils, Roland

    2016-01-01

    Psychological stress during pregnancy increases the risk of childhood wheeze and asthma. However, the transmitting mechanisms remain largely unknown. Since epigenetic alterations have emerged as a link between perturbations in the prenatal environment and an increased disease risk we used whole genome bisulfite sequencing (WGBS) to analyze changes in DNA methylation in mothers and their children related to prenatal psychosocial stress and assessed its role in the development of wheeze in the child. We evaluated genomic regions altered in their methylation level due to maternal stress based of WGBS data of 10 mother-child-pairs. These data were complemented by longitudinal targeted methylation and transcriptional analyses in children from our prospective mother-child cohort LINA for whom maternal stress and wheezing information was available (n = 443). High maternal stress was associated with an increased risk for persistent wheezing in the child until the age of 5. Both mothers and children showed genome-wide alterations in DNA-methylation specifically in enhancer elements. Deregulated neuroendocrine and neurotransmitter receptor interactions were observed in stressed mothers and their children. In children but not in mothers, calcium- and Wnt-signaling required for lung maturation in the prenatal period were epigenetically deregulated and could be linked with wheezing later in children’s life. PMID:27349968

  3. Country-specific estimates of the incidence of intellectual disability associated with prenatal exposure to methylmercury.

    PubMed

    Bellinger, David C; O'Leary, Keri; Rainis, Holly; Gibb, Herman J

    2016-05-01

    This paper describes country-specific estimates of the incidence of intellectual disability in children associated with prenatal exposure to methylmercury. A systematic review was undertaken to identify country-specific data on hair mercury concentrations in women of reproductive age. A variety of approaches were used to estimate biomarker concentrations for countries lacking such data. A dose-effect relationship derived on the basis of the data from three large prospective studies relating prenatal methylmercury exposure to IQ in children was used to estimate the country-specific incidences of mild, moderate, severe, and profound intellectual disability in children as a result of prenatal methylmercury exposure. The incidence of methylmercury-associated mild intellectual disability (IQ scores 50-70) varied nearly 40-fold across countries, with the greatest incidences generally in countries that are islands or that are coastal. Countries with high birth rates and greater consumption of foods that contribute most to methylmercury intake in humans (seafood, rice) can be expected to make the largest contributions to the worldwide burden of disease associated with methylmercury. The assumptions and limitations of the estimates are discussed. PMID:26874048

  4. Effect of exercise on dopamine neuron survival in prenatally stressed rats

    PubMed Central

    Mabandla, Musa V.; Kellaway, Lauriston A.; Daniels, William M. U.

    2010-01-01

    Prenatal stress has been associated with increased vulnerability to psychiatric disturbances including schizophrenia, depression, attention-deficit hyperactivity disorder and autism. Elevated maternal circulating stress hormones alter development of neural circuits in the fetal brain and cause long-term changes in behaviour. The aim of the present study was to investigate whether mild prenatal stress increases the vulnerability of dopamine neurons in adulthood. A low dose of 6-hydroxydopamine (6-OHDA, 5 μg/4 μl saline) was unilaterally infused into the medial forebrain bundle of nerve fibres in the rat brain in order to create a partial lesion of dopamine neurons which was sufficient to cause subtle behavioural deficits associated with early onset of Parkinson’s disease without complete destruction of dopamine neurons. Voluntary exercise appeared to have a neuroprotective effect resulting in an improvement in motor control and decreased asymmetry in the use of left and right forelimbs to explore a novel environment as well as decreased asymmetry of tyrosine hydroxylase-positive cells in the substantia nigra pars compacta and decreased dopamine cell loss in 6-OHDA-lesioned rats. Prenatal stress appeared to enhance the toxic effect of 6-OHDA possibly by reducing the compensatory adaptations to exercise. PMID:19844780

  5. Prenatal Cocaine Exposure Alters Cortisol Stress Reactivity in 11 Year Old Children

    PubMed Central

    Lester, Barry M.; LaGasse, Linda L.; Shankaran, Seetha; Bada, Henrietta S.; Bauer, Charles R.; Lin, Richard; Das, Abhik; Higgins, Rosemary

    2011-01-01

    Objective Determine the association between prenatal cocaine exposure and postnatal environmental adversity on salivary cortisol stress reactivity in school aged children. Study design Subjects included 743 11 year old children (n=320 cocaine exposed; 423 comparison) followed since birth in a longitudinal prospective multisite study. Saliva samples were collected to measure cortisol at baseline and after a standardized procedure to induce psychological stress. Children were divided into those who showed an increase in cortisol from baseline to post stress and those who showed a decrease or blunted cortisol response. Covariates measured included site, birthweight, maternal pre and postnatal use of alcohol, tobacco or marijuana, social class, changes in caretakers, maternal depression and psychological symptoms, domestic and community violence, child abuse and quality of the home. Results With adjustment for confounding variables, cortisol reactivity to stress was more likely to be blunted in children with prenatal cocaine exposure. Cocaine exposed children exposed to domestic violence showed the strongest effects. Conclusion The combination of prenatal cocaine exposure and an adverse postnatal environment could down regulate the hypothalamic-pituitary-adrenal axis (HPA) resulting in the blunted cortisol response to stress possibly increasing risk for later psychopathology and adult disease. PMID:20400094

  6. Attitudes toward prenatal genetic testing for Treacher Collins syndrome among affected individuals and families.

    PubMed

    Wu, Rebecca L; Lawson, Cathleen S; Jabs, Ethylin Wang; Sanderson, Saskia C

    2012-07-01

    Treacher Collins syndrome (TCS) is a craniofacial syndrome that is both phenotypically variable and heterogeneous, caused by mutations in the TCOF1, POLR1C, and POLR1D genes. We examined attitudes towards TCS prenatal genetic testing among affected families using a telephone questionnaire. Participants were 31 affected adults and relatives recruited primarily through families cared for in the mid-Atlantic region. Nineteen participants (65%) reported that they would take a TCS prenatal genetic test which could not predict degree of disease severity. Interest in TCS genetic testing was associated with higher income, higher concern about having a child with TCS, lower religiosity, lower concern about genetic testing procedures, and having a sporadic rather than familial mutation. Over half reported that their decision to have TCS genetic testing would be influenced a great deal by their desire to relieve anxiety and attitudes toward abortion. Ten participants (32%) reported that they would be likely to end the pregnancy upon receiving a positive test result; this was lower amongst TCS affected individuals and higher amongst participants with children with TCS. Genetics healthcare providers need to be aware of affected individuals' and families' attitudes and interest in prenatal genetic testing for TCS, and the possible implications for other craniofacial disorders, so that patients' information needs can be met.

  7. Prenatal maternal stress and wheeze in children: novel insights into epigenetic regulation.

    PubMed

    Trump, Saskia; Bieg, Matthias; Gu, Zuguang; Thürmann, Loreen; Bauer, Tobias; Bauer, Mario; Ishaque, Naveed; Röder, Stefan; Gu, Lei; Herberth, Gunda; Lawerenz, Christian; Borte, Michael; Schlesner, Matthias; Plass, Christoph; Diessl, Nicolle; Eszlinger, Markus; Mücke, Oliver; Elvers, Horst-Dietrich; Wissenbach, Dirk K; von Bergen, Martin; Herrmann, Carl; Weichenhan, Dieter; Wright, Rosalind J; Lehmann, Irina; Eils, Roland

    2016-01-01

    Psychological stress during pregnancy increases the risk of childhood wheeze and asthma. However, the transmitting mechanisms remain largely unknown. Since epigenetic alterations have emerged as a link between perturbations in the prenatal environment and an increased disease risk we used whole genome bisulfite sequencing (WGBS) to analyze changes in DNA methylation in mothers and their children related to prenatal psychosocial stress and assessed its role in the development of wheeze in the child. We evaluated genomic regions altered in their methylation level due to maternal stress based of WGBS data of 10 mother-child-pairs. These data were complemented by longitudinal targeted methylation and transcriptional analyses in children from our prospective mother-child cohort LINA for whom maternal stress and wheezing information was available (n = 443). High maternal stress was associated with an increased risk for persistent wheezing in the child until the age of 5. Both mothers and children showed genome-wide alterations in DNA-methylation specifically in enhancer elements. Deregulated neuroendocrine and neurotransmitter receptor interactions were observed in stressed mothers and their children. In children but not in mothers, calcium- and Wnt-signaling required for lung maturation in the prenatal period were epigenetically deregulated and could be linked with wheezing later in children's life.

  8. Prenatal buprenorphine exposure decreases neurogenesis in rats.

    PubMed

    Wu, Chih-Cheng; Hung, Chih-Jen; Shen, Ching-Hui; Chen, Wen-Ying; Chang, Cheng-Yi; Pan, Hung-Chuan; Liao, Su-Lan; Chen, Chun-Jung

    2014-02-10

    Perinatal opioid exposure has a negative effect on neurogenesis and produces neurological consequences. However, its mechanisms of action are incompletely understood. Buprenorphine, a mixed opioid agonist/antagonist, is an alternative medication for managing pregnant opioid addicts. This study provides evidence of decreased neurogenesis and depression-like consequences following prenatal exposure to buprenorphine and sheds light on mechanisms of action in a rat model involving administration of intraperitoneal injection to pregnant rats starting from gestation day 7 and lasting for 14 days and a cultured neurosphere model. Results of forced swimming test and tail suspension test showed that pups at postnatal day 21 had worse parameters of depression-like neurobehaviors, independent of gender. Neurobehavioral changes were accompanied by reduction of neuronal composition, biochemical parameters of neural stem/progenitor cells, brain-derived neurotrophic factor (BDNF) expression, tropomyosin-related kinase receptor type B phosphorylation, protein kinase A (PKA) activity, and cAMP response element-binding protein phosphorylation. Results of parallel cell studies further demonstrated a negative impact of buprenorphine on cultured neurospheres, including proliferation, differentiation, BDNF expression and signaling, and PKA activity. Taken together, our results suggest that prenatal exposure to buprenorphine might result in depression-like phenotypes associated with impaired BDNF action and decreased neurogenesis in the developing brain of weanlings.

  9. Parental Virtue and Prenatal Genetic Alteration Research.

    PubMed

    Tonkens, Ryan

    2015-12-01

    Although the philosophical literature on the ethics of human prenatal genetic alteration (PGA) purports to inform us about how to act, it rarely explicitly recognizes the perspective of those who will be making the PGA decision in practice. Here I approach the ethics of PGA from a distinctly virtue-based perspective, taking seriously what it means to be a good parent making this decision for one's child. From this perspective, I generate a sound verdict on the moral standing of human PGA (research): given the current state of the art, good parents have compelling reason not to consent to PGA (research) for their child, especially as part of the first wave(s) of PGA research participants and especially for non-medically oriented purposes. This is because doing otherwise is inconsistent with a plausible and defensible understanding of virtuous parenting and parental virtues, founded on a genuine concern for promoting the overall flourishing of the eventual child. In essence, given the current and foreseeable state of the art, parents who allow prenatal genetic alteration of their children are less-than-virtuous parents to those children, even in cases where they have a right to do so and even if PGA turns out to be beneficial to the eventual child. PMID:26160602

  10. Environmental noise and human prenatal growth

    SciTech Connect

    Schell, L.M.

    1981-09-01

    To determine whether chronic exposure to relatively loud noise has demonstrable biological effects in humans, a study was conducted on the effect of mother's exposure to airport noise while pregnant, and of social and biological characteristics of the family upon birthweight and gestation length. The sample of births was drawn from a community located adjacent to an international airport in the U.S., where noise levels had been measured previously. Mother's noise exposure was based upon noise levels near her residence in the community while she was pregnant. Data from 115 births were used, these being from mothers whose noise exposure history was most complete throughout the pregnancy. Using multivariate analysis to correct for family characteristics, the partial correlation coefficient for noise exposure and gestation length was negative, large, and significant in girls (r . -0.49, p less than 0.001). In boys the partial correlation coefficient was also negative but was smaller and did not quite reach statistical significance. Partial correlations with birthweight were smaller in both boys and girls and not significant. These results agree best with previous studies that suggest that noise may reduce prenatal growth. The size of the observed effects may be related to a conservative research design biased towards underestimation, as well as to the real effects of noise upon human prenatal growth.

  11. [Polish Gynaecological Society guideline on prenatal diagnosis].

    PubMed

    2009-05-01

    Prenatal diagnosis is a multidisciplinary issue where obstetricians, geneticists, neonatologists and doctors representing other specialities are involved. The guideline will provide up-to-date information, based on clinical evidence optimal techniques and timing, training and competence and clinical governance issues. Prenatal screening for chromosomal defects should be performed in concordance with Polish Gynaecological Society guidelines and recommendations on antenatal care, ultrasound in pregnancy and fetal therapy, and Fetal Medicine Foundation (London, UK) rules. There is no doubt that maternal age alone as a method of screening for chromosomal abnormalities should be abandoned as it has low Detection Rate with high False Positive Rate hence high Invasive Procedure Rate and unnecessary high pregnancy loss rate. The Working Party recommends that screening methods based on ultrasound examination at 11(+0)-13(+6) wks and maternal serum biochemistry should be implemented. Special attention must be paid to ensure that sufficiently high Detection Rate is achieved (at least 75% for 5% False Positive Rate) in screening for trisomy 21. PMID:19548462

  12. Prenatal stress changes learning strategies in adulthood.

    PubMed

    Schwabe, Lars; Bohbot, Veronique D; Wolf, Oliver T

    2012-11-01

    It is well known that stressful experiences may shape hippocampus-dependent learning and memory processes. However, although most studies focused on the impact of stress at the time of learning or memory testing, very little is known about how stress during critical periods of brain development affects learning and memory later in life. In this study, we asked whether prenatal stress exposure may influence the engagement of hippocampus-dependent spatial learning strategies and caudate nucleus-dependent response learning strategies in later life. To this end, we tested healthy participants whose mothers had experienced major negative life events during their pregnancy in a virtual navigation task that can be solved by spatial and response strategies. We found that young adults with prenatal stress used rigid response learning strategies more often than flexible spatial learning strategies compared with participants whose mothers did not experience major negative life events during pregnancy. Individual differences in acute or chronic stress do not account for these findings. Our data suggest that the engagement of hippocampal and nonhippocampal learning strategies may be influenced by stress very early in life.

  13. Carrier and prenatal diagnostic strategy and newly identified mutations in Hungarian haemophilia A and B families.

    PubMed

    Bors, András; Andrikovics, Hajnalka; Illés, Zsuzsanna; Jáger, Rita; Kardos, Mária; Marosi, Anikó; Nemes, László; Tordai, Attila

    2015-03-01

    Deficiencies of blood coagulation factors VIII and IX (haemophilia A and haemophilia B) represent the most common inherited bleeding disorders with a wide range of causative mutations. Carrier and prenatal diagnostics are preferably performed by direct mutation detection; however, in certain situations, indirect family studies may also be useful. We aimed to utilize a combination of direct and indirect techniques for carrier and prenatal diagnostics in both haemophilias in a single national centre. Two hundred and eleven haemophilia A families were investigated by screening for inversions of introns 1 and 22, and by family studies using polymorphic markers. Twenty-eight haemophilia A and 39 haemophilia B families were investigated by Sanger-sequencing of the coding regions. Among severe haemophilia A families, frequencies of intron 22 and 1 inversions were 82 out of 145 (57%) and two out of 145 (1.4%). Sequencing of the entire coding region of the respective factor gene was performed and 12 (haemophilia A) and 5 (haemophilia B) previously unpublished disease-causing mutations were identified. For genetic markers used for haemophilia A indirect family testing, heterozygosity rates varied between 137 out of 327 [42% intragenic BclI restriction fragment length polymorphism (RFLP], 168 out of 254 (66% intragenic F8Civs13CA) and 202 out of 261 (77% extragenic DXS15CA) with a combined rate of 92% (intragenic markers) and 97% (all three markers). For male fetuses, prenatal diagnostics was provided to 43 haemophilia A families (n = 22 with direct mutation detection and n = 21 by indirect family testing) and to three haemophilia B families. The combination of direct and indirect molecular genetics approaches is a successful and cost-effective approach to provide carrier and prenatal diagnostics and risk assessment for inhibitor formation.

  14. Maternal prenatal distress and poor nutrition – mutually influencing risk factors affecting infant neurocognitive development

    PubMed Central

    Monk, Catherine; Georgieff, Michael K.; Osterholm, Erin A.

    2012-01-01

    Background Accumulating data from animal and human studies indicate that the prenatal environment plays a significant role in shaping children’s neurocognitive development. Clinical, epidemiologic, and basic science research suggests that two experiences relatively common in pregnancy — an unhealthy maternal diet and psychosocial distress — significantly affect children’s future neurodevelopment. These prenatal experiences exert their influence in the context of one another and yet, almost uniformly, are studied independently. Scope and Method of Review In this review, we suggest that studying neurocognitive development in children in relation to both prenatal exposures is ecologically most relevant, and methodologically most sound. To support this approach, we selectively review two research topics that demonstrate the need for dual exposure studies, including exemplar findings on (1) the associations between pregnant women’s inadequate maternal intake of key nutrients – protein, fat, iron, zinc, and choline – as well as distress in relation to overlapping effects on children’s neurocognitive development; and (2) cross-talk between the biology of stress and nutrition that can amplify each experience for the mother and fetus,. We also consider obstacles to this kind of study design, such as questions of statistical methods for ‘disentangling’ the exposure effects, and aim to provide some answers. Conclusion Studies that specifically include both exposures in their design can begin to determine the relative and/or synergistic impact of these prenatal experiences on developmental trajectories — and thereby contribute most fully to the understanding of the early origins of health and disease. PMID:23039359

  15. Factors Affecting Improved Prenatal Screening: A Narrative Review

    PubMed Central

    Shahhosseini, Zohreh; Arabi, Hoda; Salehi, Azam; Hamzehgardeshi, Zeinab

    2016-01-01

    Background: Prenatal screening deals with the detection of structural and functional abnormalities in the fetus. Health care providers can minimize unintended pregnancy outcomes by providing proper counseling and performing prenatal screening. The purpose of the present review study is to investigate factors affecting improved prenatal screening. Methods: The present study is a narrative review searching public databases such as Google Scholar and specialized databases such as Pubmed, Magiran, Scientific Information Database, Elsevier, Ovid and Science Direct as well. Using the keywords “prenatal screening”, “fetus health” and “prenatal counseling”, 70 relevant articles published from 1994 to 2014 were selected. After reviewing the abstracts, the full data from 26 articles were ultimately used for writing the present review study. Results: Three general themes emerged from reviewing the studies: health care providers’ skills, clients’ characteristics and ethical considerations, which were the main factors affecting improved prenatal screening. Conclusion: Prenatal screening can be successful if performed by a trained and experienced expert through techniques suitable for the mother’s age. Also simultaneously providing proper counseling and giving a full description of the risks and benefits of the procedures for clients is recommended. PMID:26652091

  16. Prenatal and postnatal cocaine exposure predict teen cocaine use.

    PubMed

    Delaney-Black, Virginia; Chiodo, Lisa M; Hannigan, John H; Greenwald, Mark K; Janisse, James; Patterson, Grace; Huestis, Marilyn A; Partridge, Robert T; Ager, Joel; Sokol, Robert J

    2011-01-01

    Preclinical studies have identified alterations in cocaine and alcohol self-administration and behavioral responses to pharmacological challenges in adolescent offspring following prenatal exposure. To date, no published human studies have evaluated the relation between prenatal cocaine exposure and postnatal adolescent cocaine use. Human studies of prenatal cocaine-exposed children have also noted an increase in behaviors previously associated with substance use/abuse in teens and young adults, specifically childhood and teen externalizing behaviors, impulsivity, and attention problems. Despite these findings, human research has not addressed prior prenatal exposure as a potential predictor of teen drug use behavior. The purpose of this study was to evaluate the relations between prenatal cocaine exposure and teen cocaine use in a prospective longitudinal cohort (n=316) that permitted extensive control for child, parent and community risk factors. Logistic regression analyses and Structural Equation Modeling revealed that both prenatal exposure and postnatal parent/caregiver cocaine use were uniquely related to teen use of cocaine at age 14 years. Teen cocaine use was also directly predicted by teen community violence exposure and caregiver negativity, and was indirectly related to teen community drug exposure. These data provide further evidence of the importance of prenatal exposure, family and community factors in the intergenerational transmission of teen/young adult substance abuse/use.

  17. Prenatal and postnatal cocaine exposure predict teen cocaine use

    PubMed Central

    Delaney-Black, Virginia; Chiodo, Lisa M.; Hannigan, John H.; Greenwald, Mark K.; Janisse, James; Patterson, Grace; Huestis, Marilyn A.; Partridge, Robert T.; Ager, Joel; Sokol, Robert J.

    2015-01-01

    Preclinical studies have identified alterations in cocaine and alcohol self-administration and behavioral responses to pharmacological challenges in adolescent offspring following prenatal exposure. To date, no published human studies have evaluated the relation between prenatal cocaine exposure and postnatal adolescent cocaine use. Human studies of prenatal cocaine-exposed children have also noted an increase in behaviors previously associated with substance use/abuse in teens and young adults, specifically childhood and teen externalizing behaviors, impulsivity, and attention problems. Despite these findings, human research has not addressed prior prenatal exposure as a potential predictor of teen drug use behavior. The purpose of this study was to evaluate the relations between prenatal cocaine exposure and teen cocaine use in a prospective longitudinal cohort (n = 316) that permitted extensive control for child, parent and community risk factors. Logistic regression analyses and Structural Equation Modeling revealed that both prenatal exposure and postnatal parent/caregiver cocaine use were uniquely related to teen use of cocaine at age 14 years. Teen cocaine use was also directly predicted by teen community violence exposure and caregiver negativity, and was indirectly related to teen community drug exposure. These data provide further evidence of the importance of prenatal exposure, family and community factors in the intergenerational transmission of teen/young adult substance abuse/use. PMID:20609384

  18. Prenatal Exposure to Bisphenol A and Phthalates and Infant Neurobehavior

    PubMed Central

    Yolton, Kimberly; Xu, Yingying; Strauss, Donna; Altaye, Mekibib; Calafat, Antonia M.; Khoury, Jane

    2011-01-01

    Objective To examine the association of prenatal exposure to bisphenol A and select common phthalates with infant neurobehavior measured at 5 weeks. Methods We compared the concentration of maternal urinary metabolites of bisphenol A and phthalates at two distinct time points in pregnancy (16w, 26w) with scores on the NICU Network Neurobehavioral Scale (NNNS) at 5 weeks of age in a cohort of 350 mother/infant pairs. Results Prenatal exposure to BPA was not significantly associated with neurobehavioral outcomes at 5 weeks. Significant associations between prenatal exposure to measured phthalates and infant neurobehavioral outcomes differed by type of phthalate and were only seen with exposure measured at 26 weeks. Higher total di-butyl phthalate (DBP) metabolites at 26w was associated with improved behavioral organization evidenced by decreased arousal (p=.04), increased self-regulation (p=.052), and decreased handling (p=.02). In males, higher total di-2-ethylhexyl phthalate (DEHP) metabolites at 26w was associated with more nonoptimal reflexes (p=.02). Conclusion The association between prenatal phthalate exposure and infant neurobehavior differed by type of phthalate and was evident only with exposure measured at 26w. Prenatal exposure to DBP was associated with improved behavioral organization in 5-week-old infants. Prenatal exposure to DEHP was associated with nonoptimal reflexes in male infants. There was no evidence of an association between prenatal BPA exposure and infant neurobehavior. PMID:21854843

  19. Ambiguous genitalia: what prenatal genetic testing is practical?

    PubMed

    Adam, Margaret P; Fechner, Patricia Y; Ramsdell, Linda A; Badaru, Angela; Grady, Richard E; Pagon, Roberta A; McCauley, Elizabeth; Cheng, Edith Y; Parisi, Melissa A; Shnorhavorian, Margarett

    2012-06-01

    Concern for ambiguous genitalia or chromosome-phenotype discordance detected in a prenatal setting has increased over the last two decades. Practitioners faced with this prenatal finding have a variety of genetic tests available to them; however, it is unclear to what extent prenatal testing for disorders of sex development (DSD) is useful or practical. We undertook a retrospective review of the medical records of 140 individuals evaluated through the DSD clinic at Seattle Children's Hospital with birthdates from 01/01/1994 through 08/16/2011 to determine the rate of prenatal detection of ambiguous genitalia in individuals with DSD, what prenatal diagnostic workup was undertaken, and the postnatal outcome, including whether a postnatal genetic diagnosis was confirmed. Of all 140 subjects, 34 (24%) were identified prenatally. The most common postnatal diagnoses were penoscrotal hypospadias with transposition of the scrotum with no known genetic cause (24/140; 17%) and 21-hydroxylase deficiency (20/140; 14%). Apart from these, no single diagnosis comprised more than a few cases. Prenatal diagnostic testing varied widely, from no tests to multiple molecular tests with amniotic fluid hormone concentrations. In the absence of other fetal anomalies or growth retardation on ultrasound, prenatal karyotype with fluorescence in situ hybridization for the SRY gene is the most useful test when ambiguous genitalia is suspected. Further prenatal testing for Smith-Lemli-Opitz syndrome in 46,XY individuals and congenital adrenal hyperplasia in 46,XX individuals may be considered. However, targeted molecular testing for rare DSD conditions in the absence of a family history of DSD has a low yield.

  20. Prenatal screening and prenatal diagnosis: contemporary practices in light of the past.

    PubMed

    Iltis, Ana S

    2016-06-01

    The 20th century eugenics movement in the USA and contemporary practices involving prenatal screening (PNS), prenatal diagnosis (PND), abortion and preimplantation genetic diagnosis (PGD) share important morally relevant similarities. I summarise some features of the 20th century eugenics movement; describe the contemporary standard of care in the USA regarding PNS, PND, abortion and PGD; and demonstrate that the 'old eugenics' the contemporary standard of care share the underlying view that social resources should be invested to prevent the birth of people with certain characteristics. This comparison makes evident the difficulty of crafting moral arguments that treat some uses of PNS, PND, abortion and PGD as licit and others as illicit. PMID:27161556

  1. Transcranial Doppler in a Hispanic–Mestizo population with neurological diseases: a study of sonographic window and its determinants

    PubMed Central

    Brunser, Alejandro M; Silva, Claudio; Cárcamo, Daniel; Muñoz, Paula; Hoppe, Arnold; Olavarría, Verónica V; Díaz, Violeta; Abarca, Juan

    2012-01-01

    Between 5% and 37% of patients are not suitable for transtemporal insonation with transcranial Doppler (TCD). This unsuitability is particularly frequent in elderly females and non-Caucasians. We aim to evaluate TCD efficiency in a mixed Hispanic population in Santiago, Chile and to determine whether factors associated with the presence of optimal windows depend exclusively on patient-related elements. Seven hundred forty-nine patients were evaluated with power mode TCD. Optimal temporal windows (TWs) included detection of the middle, anterior, posterior cerebral arteries and terminal carotid. The patient's age and sex, the location of the examination, the time of day, whether the test was conducted on weekends and whether mechanical ventilation was used were recorded. Percentages of optimal windows were calculated. Examinations were deemed ideal if both TWs were optimal. TWs were obtained in 82% of cases. In univariate analyses, male sex (P < 0.001), an age below 60 years (P < 0.0001) and mechanical ventilation (P= 0.04) correlated with ideal TWs. Using logistic regression where dependent variable was a non-ideal window only male sex odds ratio (OR) 2.3 (1.51–3.45) and age below 60 OR 13.8 (7.8–24.6) were statistically significant. Our findings indicate that Hispanic populations have detection rates for TWs similar to Europeans and are affected by patient-related elements. PMID:22741096

  2. Korean women's attitudes toward pregnancy and prenatal care.

    PubMed

    Pritham, U A; Sammons, L N

    1993-01-01

    A convenience sample of 40 native-born pregnant Korean women receiving prenatal care at a U.S. military facility in a major metropolitan area in Korea completed a questionnaire about attitudes toward pregnancy and prenatal care. Responses revealed a family life characterized by positive maternal and paternal perceptions of the pregnancy and less preference for a male child than we had anticipated. Traditional beliefs in Tae Mong, a conception dream, and Tae Kyo, rituals for safe childbirth, were followed. Food taboos, including protein sources, were reported. Attitudes toward prenatal care services, care providers, and maternal health habits are described.

  3. Prenatal stress and inhibitory neuron systems: implications for neuropsychiatric disorders

    PubMed Central

    Fine, Rebecca; Zhang, Jie; Stevens, Hanna E.

    2014-01-01

    Prenatal stress is a risk factor for several psychiatric disorders in which inhibitory neuron pathology is implicated. A growing body of research demonstrates that inhibitory circuitry in the brain is directly and persistently affected by prenatal stress. This review synthesizes research that elucidates how this early, developmental risk factor impacts inhibitory neurons and how these findings intersect with research on risk factors and inhibitory neuron pathophysiology in schizophrenia, anxiety, autism and Tourette syndrome. The specific impact of prenatal stress on inhibitory neurons, particularly developmental mechanisms, may elucidate further the pathophysiology of these disorders. PMID:24751963

  4. [Prenatal care in the border city of Tijuana, Mexico].

    PubMed

    Ramírez-Zetina, M; Richardson, V; Avila, H; Caraveo, V E; Salomón, R E; Bacardí, M; Jiménez-Cruz, A

    2000-02-01

    This study was intended to explore the conditions under which prenatal care is delivered in the border city of Tijuana, Baja California, Mexico, and to assess the possible associations between that care and neonatal results in terms of birthweight, health of the neonate, and prematurity. Seven hospitals serving persons from different socioeconomic strata were chosen, and between December 1993 and March 1994 interviews were conducted with 279 women who were in the first 24 to 48 hours of puerperium. During the interviews data were collected on socioeconomic level; the mothers' knowledge, attitudes, and practices concerning obstetric health; the mothers' perceptions of access to prenatal care; the quality of prenatal care visits (evaluated in terms of having blood and urine tested and weight and blood pressure measured); and the gynecological and obstetric and health history of the mother. A database was created using the SPSS statistics software package. Possible associations were explored, with prenatal care as the independent variable and various dependent variables, by means of contingency tables and a two-tailed Fisher's exact test. None of the neonates was premature, ill, or had a birthweight of < or = 2,500 g. For this reason it was decided to divide the variable corresponding to birthweight into two groupings, < or = 3,000 g and > 3,000 g. A significant (P < 0.00038) relationship was found between a lack of prenatal care and low birthweight. In addition, a lack of prenatal care was associated with: low family income; the mother's financial dependence on the father; the mother being in an unmarried relationship; little communication with the partner; having no medical insurance; an unwanted pregnancy; and giving delivery at the General Hospital. Out of the total sample of 279 women, 15 (5.4%) had received no prenatal care. None of these 15 women reported they had encountered difficulties that prevented them from obtaining prenatal care, but only 7 of those

  5. Role of ultrasonography with color-Doppler in diagnosis of penile Mondor's disease.

    PubMed

    Dell'Atti, Lucio

    2014-09-01

    Penile Mondor's disease (superficial thrombophlebitis of the penis dorsal vein) is an uncommon and benign pathology that affects sexually active men. Although the diagnosis is made by physical examination in most patients, sonography may be required in some cases. Color-Doppler ultrasonography clearly visualizes dorsal vein thrombosis and the associated hemodynamic alterations. We describe the symptoms, the sonographic findings and treatment of this disease in a 26-year-old male with superficial thrombophlebitis of the penis dorsal vein.

  6. Polycystic Thyroid Disease in Pediatric Patients: An Uncommon Cause of Hypothyroidism.

    PubMed

    Naranjo, Isaac Daimiel; Robinot, David Coca; Rojo, Jaime Cruz; Ponferrada, Miguel Rasero

    2016-01-01

    Polycystic thyroid disease has been described as a rare cause of hypothyroidism. This uncommon entity has been reported in adults within areas with high iodine intake. Sonographic findings of multiple small thin-walled simple thyroid cysts in the context of hypothyroidism without thyroid autoantibodies are highly suggestive of this diagnosis. To our knowledge, we report the first 2 cases of polycystic thyroid disease in pediatric patients in Europe.

  7. Comparing CenteringPregnancy® to standard prenatal care plus prenatal education

    PubMed Central

    2013-01-01

    Background There is significant evidence to support the importance of prenatal care in preventing adverse outcomes such as preterm birth and low infant birth weight. Previous studies have indicated that the benefits of prenatal care are not evenly distributed throughout the social strata. In addition, emerging evidence suggests that among particular populations, rates of preterm birth are unchanged or increasing. This suggests that an alternate care model is necessary, one that seeks to addresses some of the myriad of social factors that also contribute to adverse birth outcomes. In previous studies, the group prenatal care model CenteringPregnancy® had been shown to reduce adverse birth outcomes, but to date, no comparison had been made with a model that included prenatal education. This study sought to investigate whether any significant difference remained within the comparison groups when both models accounted for social factors. Methods This analysis was based on survey data collected from a prospective cohort of pregnant women through the All Our Babies Study in Calgary, Alberta. Results At baseline, there were significant differences between the comparison groups in their psychosocial health, with the women in the CenteringPregnancy® group scoring higher levels of depressive symptoms, stress and anxiety. At four months postpartum, the differences between the groups were no longer significant. Conclusions: These results suggest that CenteringPregnancy® can recruit and retain a demographically vulnerable group of women with a constellation of risk factors for poor pregnancy and birth outcomes, including poverty, language barriers and poor mental health. Post program, the rates of stress, anxiety and depression were similar to other women with more social and financial advantage. These findings suggest that CenteringPregnancy® may be a community based care strategy that contributes to improved mental health, knowledge, and behaviours to optimize outcomes

  8. Sonographic evaluation of cervical length in pregnancy: diagnosis and management of preterm cervical effacement in patients at risk for premature delivery.

    PubMed

    Ayers, J W; DeGrood, R M; Compton, A A; Barclay, M; Ansbacher, R

    1988-06-01

    Sonographic measurement of cervical length during pregnancy can provide an objective, noninvasive assessment of anatomical shortening associated with premature labor and delivery. One hundred fifty normal women underwent serial sonographic cervical length measurements during uncomplicated pregnancy. The mean cervical length was 52 +/- 12 mm until 34 weeks' gestation, when gradual effacement and cervical length shortening began. Using these data, we managed 88 pregnant women with previous second-trimester pregnancy losses by a combination of cerclage placement for cervical length less than 40 mm and aggressive therapy for premature uterine contractions. The results showed the following: 1) 97% of women with diethylstilbestrol exposure and 80% of women with müllerian abnormalities exhibited cervical length shortening; 2) only 60% of women with a normal uterine cavity showed cervical lengths of less than 40 mm; and 3) all three groups of high-risk patients, independent of cervical length, showed significant premature uterine activity. These observations suggest that sonographic cervical length measurement may be a useful adjunct in the assessment of anatomical cervical integrity and the decision for cerclage placement. Furthermore, the presence of both premature cervical length shortening and preterm uterine activity in 65% of high-risk patients suggests that "cervical incompetence" and premature labor may not be distinct entities, but common symptoms associated with an increased risk of preterm delivery.

  9. Disentangling prenatal and postnatal maternal genetic effects reveals persistent prenatal effects on offspring growth in mice.

    PubMed

    Wolf, Jason B; Leamy, Larry J; Roseman, Charles C; Cheverud, James M

    2011-11-01

    Mothers are often the most important determinant of traits expressed by their offspring. These "maternal effects" (MEs) are especially crucial in early development, but can also persist into adulthood. They have been shown to play a role in a diversity of evolutionary and ecological processes, especially when genetically based. Although the importance of MEs is becoming widely appreciated, we know little about their underlying genetic basis. We address the dearth of genetic data by providing a simple approach, using combined genotype information from parents and offspring, to identify "maternal genetic effects" (MGEs) contributing to natural variation in complex traits. Combined with experimental cross-fostering, our approach also allows for the separation of pre- and postnatal MGEs, providing rare insights into prenatal effects. Applying this approach to an experimental mouse population, we identified 13 ME loci affecting body weight, most of which (12/13) exhibited prenatal effects, and nearly half (6/13) exhibiting postnatal effects. MGEs contributed more to variation in body weight than the direct effects of the offsprings' own genotypes until mice reached adulthood, but continued to represent a major component of variation through adulthood. Prenatal effects always contributed more variation than postnatal effects, especially for those effects that persisted into adulthood. These results suggest that MGEs may be an important component of genetic architecture that is generally overlooked in studies focused on direct mapping from genotype to phenotype. Our approach can be used in both experimental and natural populations, providing a widely practicable means of expanding our understanding of MGEs.

  10. [Complex Congenital Heart Disease: The Influence of Prenatal Diagnosis].

    PubMed

    Correia, Marta; Fortunato, Fabiana; Martins, Duarte; Teixeira, Ana; Nogueira, Graça; Menezes, Isabel; Anjos, Rui

    2015-01-01

    Introdução: As cardiopatias congénitas complexas são patologias graves, e o diagnóstico pré-natal poderá ter implicações sobre a morbilidade e a mortalidade. O objetivo deste trabalho foi estudar a influência do diagnóstico pré-natal e da distância do local de parto a um centro de referência, na morbilidade imediata e mortalidade precoce de um grupo de doentes com cardiopatias congénitas complexas.Material e Métodos: Análise retrospetiva dos doentes com cardiopatias congénitas complexas, seguidos no nosso hospital, nascidos entre 2007 e 2012.Resultados: Identificaram-se 126 doentes com cardiopatias congénitas complexas. Em 95% a gravidez foi vigiada desde o primeiro trimestre existindo diagnóstico pré-natal em 42%. Houve relação estatisticamente significativa entre o local do parto e a existência de diagnóstico pré-natal. A cardiopatia congénita complexa mais frequente foi a transposição das grandes artérias (45,2%), seguida da atresia da pulmonar com comunicação interventricular (17,5%) e ventrículo esquerdo hipoplásico (9,5%). Oitenta e dois doentes (65,1%) foram medicados com prostaglandinas e 38 (30,2%) foram ventilados antes de uma intervenção. A cirurgia ocorreu no período neonatal em 73%. A sobrevida atuarial aos 30 dias, 12 e 24 meses foi 85%, 80% e 75%, respetivamente. Não houve relação estatisticamente significativa entre diagnóstico pré-natal e mortalidade.Discussão: A maioria dos doentes com cardiopatias congénitas complexas não teve diagnóstico pré-natal. Nos casos com diagnóstico pré-natal houve referenciação e parto num centro terciário. Não houve associação estatisticamente significativa entre diagnóstico prénatal e mortalidade neonatal, como já descrito em séries heterogéneas de cardiopatia congénita complexa.Conclusão: A maioria dos doentes com cardiopatias congénitas complexas não teve diagnóstico pré-natal. Estes dados devem ser tomados em conta no planeamento do diagnóstico pré-natal das cardiopatias congénitas.

  11. Fetal Programming of Adult Disease: Implications for Prenatal Care

    EPA Science Inventory

    The obesity epidemic, including a marked increase in the prevalence of obesity among pregnant women, represents a critical public health problem in the United States and throughout the world. Over the past two decades, it has been increasingly recognized that the risk of adult ...

  12. Prenatal LPS-exposure--a neurodevelopmental rat model of schizophrenia--differentially affects cognitive functions, myelination and parvalbumin expression in male and female offspring.

    PubMed

    Wischhof, Lena; Irrsack, Ellen; Osorio, Carmen; Koch, Michael

    2015-03-01

    Maternal infection during pregnancy increases the risk for the offspring to develop schizophrenia. Gender differences can be seen in various features of the illness and sex steroid hormones (e.g. estrogen) have strongly been implicated in the disease pathology. In the present study, we evaluated sex differences in the effects of prenatal exposure to a bacterial endotoxin (lipopolysaccharide, LPS) in rats. Pregnant dams received LPS-injections (100 μg/kg) at gestational day 15 and 16. The offspring was then tested for prepulse inhibition (PPI), locomotor activity, anxiety-like behavior and object recognition memory at various developmental time points. At postnatal day (PD) 33 and 60, prenatally LPS-exposed rats showed locomotor hyperactivity which was similar in male and female offspring. Moreover, prenatal LPS-treatment caused PPI deficits in pubertal (PD45) and adult (PD90) males while PPI impairments were found only at PD45 in prenatally LPS-treated females. Following prenatal LPS-administration, recognition memory for objects was impaired in both sexes with males being more severely affected. Additionally, we assessed prenatal infection-induced alterations of parvalbumin (Parv) expression and myelin fiber density. Male offspring born to LPS-challenged mothers showed decreased myelination in cortical and limbic brain regions as well as reduced numbers of Parv-expressing cells in the medial prefrontal cortex (mPFC), hippocampus and entorhinal cortex. In contrast, LPS-exposed female rats showed only a modest decrease in myelination and Parv immunoreactivity. Collectively, our data indicate that some of the prenatal immune activation effects are sex dependent and further strengthen the importance of taking into account gender differences in animal models of schizophrenia. PMID:25455585

  13. The Interaction Between Prenatal Exposure to Home Renovation and Reactive Oxygen Species Genes in Cord Blood IgE Response is Modified by Maternal Atopy

    PubMed Central

    Yu, Jinho; Shin, Youn Ho; Kim, Kyung Won; Suh, Dong In; Yu, Ho-Sung; Kang, Mi-Jin; Lee, Kyung-Shin; Hong, Seo Ah; Choi, Kil Yong; Lee, Eun; Yang, Song-I; Seo, Ju-Hee; Kim, Byoung-Ju; Kim, Hyo-Bin; Lee, So-Yeon; Choi, Suk-Joo; Oh, Soo-Young; Kwon, Ja-Young; Lee, Kyung-Ju; Park, Hee Jin; Lee, Pil Ryang; Won, Hye-Sung

    2016-01-01

    Purpose Although home renovation exposure during childhood has been identified as a risk factor for the development of allergy, there is limited information on the association between prenatal exposure to home renovation and cord blood (CB) IgE response. The aims of this study were to identify the effect of prenatal exposure to home renovation on CB IgE levels, and to investigate whether this exposure interacts with neonatal genes and whether the effect can be modified by maternal atopy. Methods This study included 1,002 mother-neonate pairs from the COhort for Childhood Origin of Asthma and allergic diseases (COCOA). Prenatal environmental factors were collected using a questionnaire. The levels of CB IgE were measured by the ImmunoCAP system, and DNA was extracted from CB. Results Exposure to home renovation during the prenatal period was associated with significantly higher levels of CB IgE only in neonates from atopic mothers, and the effect of renovation exposure on CB IgE levels persisted from 31 months before birth. Furthermore, prenatal exposure to home renovation increased the risk of CB IgE response interacting with polymorphisms of NRF2 and GSTP1 genes only in neonates from atopic mothers. Conclusions Maternal atopy modified the effect of prenatal exposure to home renovation on CB serum IgE response as well as the interaction between the exposure and neonatal genes involved in the oxidative stress pathway. These findings suggest that the genetically susceptible offspring of atopic mothers may be more vulnerable to the effect of prenatal exposure to home renovation on the development of allergy. PMID:26540500

  14. Vaginal progesterone to prevent preterm birth in pregnant women with a sonographic short cervix: clinical and public health implications.

    PubMed

    Conde-Agudelo, Agustin; Romero, Roberto

    2016-02-01

    Vaginal progesterone administration to women with a sonographic short cervix is an efficacious and safe intervention used to prevent preterm birth and neonatal morbidity and mortality. The clinical and public health implications of this approach in the United States have been critically appraised and compared to other therapeutic interventions in obstetrics. Vaginal progesterone administration to women with a transvaginal sonographic cervical length (CL) ≤25 mm before 25 weeks of gestation is associated with a significant and substantial reduction of the risk for preterm birth from <28 to <35 weeks of gestation, respiratory distress syndrome, composite neonatal morbidity and mortality, admission to the neonatal intensive care unit, and mechanical ventilation. These beneficial effects have been achieved in women with a singleton gestation, with or without a history of spontaneous preterm birth, and did not differ significantly as a function of CL (<10 mm, 10-20 mm, or 21-25 mm). The number of patients required for treatment to prevent 1 case of preterm birth or adverse neonatal outcomes ranges from 10-19 women. The number needed to screen for the prevention of 1 case of preterm birth before 34 weeks of gestation is 125 women, and 225 for the prevention of 1 case of major neonatal morbidity or neonatal mortality. Several cost-effectiveness and decision analyses have shown that the combination of universal transvaginal CL screening and vaginal progesterone administration to women with a short cervix is a cost-effective intervention that prevents preterm birth and associated perinatal morbidity and mortality. Universal assessment of CL and treatment with vaginal progesterone for singleton gestations in the United States would result in an annual reduction of approximately 30,000 preterm births before 34 weeks of gestation and of 17,500 cases of major neonatal morbidity or neonatal mortality. In summary, there is compelling evidence to recommend universal transvaginal

  15. Relationship between colour flow Doppler sonographic assessment of corpus luteum activity and progesterone concentrations in mares after embryo transfer.

    PubMed

    Brogan, P T; Henning, H; Stout, T A E; de Ruijter-Villani, M

    2016-03-01

    Colour-flow Doppler sonography has been described as a means of assessing corpus luteum (CL) function rapidly, because area of luteal blood vessels correlates well with circulating progesterone (P4) concentrations [P4] in oestrous cycling mares. The aim of this study was to assess the relationships between CL size and vascularity, and circulating [P4] during early pregnancy in mares, and to determine whether luteal blood flow was a useful aid for selecting an embryo transfer recipient. Equine embryos (n=48) were recovered 8 days after ovulation and were transferred to available recipient mares as part of a commercial program with the degree of synchrony in timing of recipient ovulation ranging from 1 day before to 4 days after the donor. Immediately prior to embryo transfer (ET), maximum CL cross-section and blood vessel areas were assessed sonographically, and jugular blood was collected to measure plasma [P4]. Sonographic measurements and jugular blood collection were repeated at day 4 after ET for all mares, and again at days 11, 18 and 25 after ET in mares that were pregnant. The number of grey-scale and colour pixels within the CL was subsequently quantified using ImageJ software. The CL blood flow correlated significantly but weakly with plasma [P4] on the day of transfer and on day 4 after ET in all mares, and on days 11 and 25 after ET in pregnant mares (r=0.30-0.36). The CL area and plasma [P4] were also correlated on each day until day 11 after ET (r=0.49-0.60). The CL colour pixel area decreased significantly after day 18, whereas CL area was already decreasing by day 4 after ET. The CL area, area of blood flow, or [P4] was predictive of pregnancy. Findings in the present study suggest that both CL area and blood flow are correlated with circulating [P4] at the time of transfer and in early pregnancy. Evaluation of the CL using B-mode or CF sonography, although practical, provides no improvement in the selection of recipients or prediction of pregnancy

  16. Congenital fibrosarcoma and history of prenatal exposure to petroleum derivatives.

    PubMed

    Ortega-García, Juan A; Soldin, Offie P; López-Hernández, Fernando A; Trasande, Leonardo; Ferrís-Tortajada, Josep

    2012-10-01

    Congenital fibrosarcoma (CFS) is a rare fibrous tissue malignancy that usually presents in the first few years of life. It is unique among human sarcomas in that it has an excellent prognosis. We describe a temporal clustering of a number of cases of CFS and investigate the possible associated prenatal risk factors. The Pediatric Environmental History, a questionnaire developed in our clinic that is instrumental in determining environmental risk factors for tumor-related disease, was essential in documenting the presence or absence of risk factors considered as human carcinogens. We found a history of exposure to petroleum products in four cases of CFS that occurred at a greater than expected rate in a short time frame-an apparent cancer cluster. We call attention to the possibility that exposure to petroleum products raises the risk of developing CFS. While future studies should focus on systematic investigation of CFS and its underlying mechanisms, this report suggests the need for proactive measures to avoid exposure to solvents and petroleum products during pregnancy.

  17. Congenital Fibrosarcoma and History of Prenatal Exposure to Petroleum Derivatives

    PubMed Central

    Soldin, Offie P.; López-Hernández, Fernando A.; Trasande, Leonardo; Ferrís-Tortajada, Josep

    2012-01-01

    Congenital fibrosarcoma (CFS) is a rare fibrous tissue malignancy that usually presents in the first few years of life. It is unique among human sarcomas in that it has an excellent prognosis. We describe a temporal clustering of a number of cases of CFS and investigate the possible associated prenatal risk factors. The Pediatric Environmental History, a questionnaire developed in our clinic that is instrumental in determining environmental risk factors for tumor-related disease, was essential in documenting the presence or absence of risk factors considered as human carcinogens. We found a history of exposure to petroleum products in four cases of CFS that occurred at a greater than expected rate in a short time frame–an apparent cancer cluster. We call attention to the possibility that exposure to petroleum products raises the risk of developing CFS. While future studies should focus on systematic investigation of CFS and its underlying mechanisms, this report suggests the need for proactive measures to avoid exposure to solvents and petroleum products during pregnancy. PMID:22945410

  18. Adrenal cytomegaly: two cases detected by prenatal diagnosis.

    PubMed

    Noguchi, Shin-ichi; Masumoto, Kouji; Taguchi, Tomoaki; Takahashi, Yukiko; Tsuneyoshi, Masazumi; Suita, Sachiyo

    2003-10-01

    We report our experience with two cases of adrenal cytomegaly, both of which were detected as cystic adrenal masses during prenatal ultrasonographic examinations. In Case 1, a left suprarenal cystic mass was detected in the fetus at 25 weeks of gestation. The mass, measuring 7 cm in diameter, did not show any change in size and was resected 26 days after birth. In Case 2, a right suprarenal lesion was found at 30 weeks of gestation. The cystic lesion, measuring 2 cm x 1.5 cm, did not change in size and was resected 3 months after birth. Adrenal cytomegaly is still not well known. It is characterized by the presence of large polyhedral cells with eosinophilic granular cytoplasm and enlarged nuclei in the adrenal cortex. This condition is thought to be a degenerative process but not a malignancy. Adrenal cytomegaly rarely forms cysts. It seemed to be impossible to diagnose preoperatively in our cases. Because of the difficulty of differentiating between cystic adrenal cytomegaly and other cystic diseases such as neuroblastoma, operative intervention is required in cases where the cysts do not decrease in size. Further study of a larger number of cases is needed to establish an optimal treatment protocol for these tumours.

  19. Prenatal development in fishers (Martes pennanti)

    USGS Publications Warehouse

    Frost, H.C.; Krohn, W.B.; Bezembluk, E.A.; Lott, R.; Wallace, C.R.

    2005-01-01

    We evaluated and quantified prenatal growth of fishers (Martes pennanti) using ultrasonography. Seven females gave birth to 21 kits. The first identifiable embryonic structures were seen 42 d prepartum; these appeared to be unimplanted blastocysts or gestational sacs, which subsequently implanted in the uterine horns. Maternal and fetal heart rates were monitored from first detection to birth. Maternal heart rates did not differ among sampling periods, while fetal hearts rates increased from first detection to birth. Head and body differentiation, visible limbs and skeletal ossification were visible by 30, 23 and 21 d prepartum, respectively. Mean diameter of gestational sacs and crown-rump lengths were linearly related to gestational age (P < 0.001). Biparietal and body diameters were also linearly related to gestational age (P < 0.001) and correctly predicted parturition dates within 1-2 d. ?? 2004 Elsevier Inc. All rights reserved.

  20. Prenatal Cocaine Exposure and Infant Cortisol Reactivity

    PubMed Central

    Eiden, Rina D.; Veira, Yvette; Granger, Douglas A.

    2009-01-01

    This study examined the effects of prenatal cocaine exposure on infant hypothalamic-pituitary-adrenal axis activity and reactivity at 7 months of infant age. Participants were 168 caregiver-infant dyads (87 cocaine exposed, 81 not cocaine exposed; 47% boys). Maternal behavior, caregiving instability, and infant growth and behavior were assessed, and children's saliva was sampled before, during, and after standardized procedures designed to elicit emotional arousal. Results revealed cocaine-exposed infants had a high amplitude trajectory of cortisol reactivity compared to non-cocaine-exposed infants. Infant gender and caregiving instability moderated this association. The findings support a dual hazard vulnerability model and have implications for evolutionary-developmental theories of individual differences in biological sensitivity to context. PMID:19467009

  1. Effect of Prenatal Zinc Supplementation on Birthweight

    PubMed Central

    Oosthuizen, Jacques; Beatty, Shelley

    2009-01-01

    Although iron and zinc deficiencies are known to occur together and also appear to be high in Ghana, a few supplementation studies addressed this concurrently in pregnancy. In a double-blind, randomized controlled trial, 600 pregnant women in Ghana were randomly assigned to receive either a combined supplement of 40 mg of zinc as zinc gluconate and 40 mg of iron as ferrous sulphate or 40 mg of elemental iron as ferrous sulphate. Overall, there was no detectable difference in the mean birthweight between the study groups, although the effect of iron-zinc supplementation on the mean birthweight was masked by a strong interaction between the type of supplement and the iron status of participants [F (1,179)=5.614, p=0.019]. Prenatal iron-zinc supplementation was effective in increasing the mean birthweight among anaemic and iron-deficient women but not among women with elevated iron stores in early pregnancy. PMID:19902797

  2. Prenatal diagnosis and the trouble with eugenics.

    PubMed

    Landeweerd, Laurens

    2009-01-01

    In the past few years we have witnessed huge steps forwards in reproductive technology. Specifically genetic diagnosis has created a range of possibilities. This carries along benefits for prenatal care as well as carrying along unprecedented ethical dilemmas that demonstrate some more problematic sides of several basic notions in medical ethics. These new technologies also led to a widespread public ethical debate on the desirability of these technologies. Concerns are felt specifically with the potential eugenic application of these technologies. To have a correct overview of the possibilities to a new eugenics, one needs to explore the actual developments in the field of human genetics in recent years. This is important to avoid deviating from what is actually occurring into the realm of science fiction.

  3. Mosaicism and uniparental disomy in prenatal diagnosis.

    PubMed

    Eggermann, Thomas; Soellner, Lukas; Buiting, Karin; Kotzot, Dieter

    2015-02-01

    Chromosomal mosaicism is the presence of numerous cell lines with different chromosomal complements in the same individual. Uniparental disomy (UPD) is the inheritance of two homologous chromosomes from the same parent. These genetic anomalies arise from errors in meiosis and/or mitosis and can occur independently or in combination. Due to the formation mechanisms of UPD, low-level or undetected mosaicisms are assumed for a significant number of UPD cases. The pre- and postnatal clinical consequences of mosaicism for chromosomal aberrations and/or UPD depend on the gene content of the involved chromosome. In prenatal evaluation of chromosomal mosaicism and UPD, genetic counseling should be offered before any laboratory testing. PMID:25547535

  4. Prenatal and perinatal analgesic exposure and autism: an ecological link

    PubMed Central

    2013-01-01

    Background Autism and Autism Spectrum Disorder (ASD) are complex neurodevelopmental disorders. Susceptibility is believed to be the interaction of genetic heritability and environmental factors. The synchronous rises in autism/ASD prevalence and paracetamol (acetaminophen) use, as well as biologic plausibility have led to the hypothesis that paracetamol exposure may increase autism/ASD risk. Methods To explore the relationship of antenatal paracetamol exposure to ASD, population weighted average autism prevalence rates and paracetamol usage rates were compared. To explore the relationship of early neonatal paracetamol exposure to autism/ASD, population weighted average male autism prevalence rates for all available countries and U.S. states were compared to male circumcision rates – a procedure for which paracetamol has been widely prescribed since the mid-1990s. Prevalence studies were extracted from the U.S. Centers for Disease Control and Prevention Summary of Autism/ASD Prevalence Studies database. Maternal paracetamol usage and circumcision rates were identified by searches on Pub Med. Results Using all available country-level data (n = 8) for the period 1984 to 2005, prenatal use of paracetamol was correlated with autism/ASD prevalence (r = 0.80). For studies including boys born after 1995, there was a strong correlation between country-level (n = 9) autism/ASD prevalence in males and a country’s circumcision rate (r = 0.98). A very similar pattern was seen among U.S. states and when comparing the 3 main racial/ethnic groups in the U.S. The country-level correlation between autism/ASD prevalence in males and paracetamol was considerably weaker before 1995 when the drug became widely used during circumcision. Conclusions This ecological analysis identified country-level correlations between indicators of prenatal and perinatal paracetamol exposure and autism/ASD. State level correlation was also identified for the indicator of perinatal

  5. The role of FISH in prenatal diagnosis

    SciTech Connect

    Kulch, P.; Crandall, B.F.; Hsi, C.

    1994-09-01

    FISH provides a cytogenetic technique which is useful in defining de novo translocations, deletions, insertions, and marker chromosomes in prenatal diagnosis. While the cytogenetic interpretation may be improved with FISH, it may not resolve questions concerning prognosis and options which are genetic counseling issues. Two recent cases illustrate this. Case 1 involved a 45,X/46,X,+mar karyotype from amniocentesis. 22/50 cells had 46,X/46,X+mar; 28/50 cells had 45,X. The marker was smaller than a G. C banding did not confirm this as a Y. The father`s peripheral blood study was normal and his Y did not resemble the marker. It appeared likely that the marker was a structurally abnormal Y since male external genitalia were detected by fetal ultrasound. FISH using alpha- and classical (DYZ1/DYZ3) satellite Y-specific probes did not identify the marker as a Y. Case 2 was a fetus which had a de novo translocation 46,XX,t(3;11)(q26.3;q21) by amniocentesis and confirmed by UBS. FISH for the number 3 and 11 chromosomes confirmed this rearrangement. The parents were advised of the risk associated with a de novo balanced translocation. The possible prognosis for these two different fetuses was not changed by the FISH analysis. FISH, while helpful, is only one aspect of the studies done to provide more accurate genetic counseling to parents; the pregnancy/family history, fetal ultrasound, other possible prenatal studies and pregnancy outcome from perspective studies compose other important aspects that are not mutually exclusive.

  6. Midsagittal dimensions of the prenatal human cranium.

    PubMed

    Eriksen, E; Bach-Petersen, S; van den Eynde, B; Solow, B; Kjaer, I

    1995-01-01

    The purpose of the present study was to analyze the linear dimensions of the cranial base and the anterior facial heights in the median plane of human fetal crania during the second trimester. The distances measured were related to gestational age (GA), crown-rump length (CRL) and maturation stages of the cranial base (MSS). The material comprised midsagittal tissue blocks of the crania from 52 normal human fetuses aged 13 to 22 weeks GA with CRL from 78 to 230 mm and cranial base maturation from MSS 3 to MSS 7. The measurements of the cranial and facial dimensions were performed on radiographs of these tissue blocks. The study confirmed previous observations regarding the dimensional increase in the linear dimensions of the cranial base and the upper facial height in the second trimester. The assessment of absolute changes was further supplemented by an analysis of the percentage changes. This analysis showed that the percentage changes from MSS 3 to MSS 7 of the linear dimensions of the cranial base and the upper facial heights were similar. On the other hand, the percentage increase in the lower anterior facial height during the second trimester was found to be much larger than that of the cranial base and the upper anterior facial height. It is suggested that this is related to the marked increase of the tooth germs during the period and the concurrent growth of the alveolar processes. Standards for normal prenatal cranial dimensions in relation to stages of maturation in the midsagittal cranial base were provided. These data may be of value for use in prenatal diagnostics. PMID:7601913

  7. Prenatal Diagnosis of Congenital High Airway Obstruction Syndrome: Report of Two Cases and Brief Review of the Literature

    PubMed Central

    Pala, Halil Gursoy; Nese, Nalan; Tarhan, Serdar; Baytur, Yesim

    2013-01-01

    Congenital high airway obstruction syndrome (CHAOS) is the obstruction of the fetal upper airways, which may be partial or complete. It is usually incompatible with life. Prenatal recognition of the disease is quite important due to the recently described management options. We report here two cases of CHAOS due to tracheal atresia diagnosed by antenatal ultrasonography and fetal MRI. We also briefly review the relevant literature with the associated management options. PMID:24251054

  8. Prenatal music exposure induces long-term neural effects.

    PubMed

    Partanen, Eino; Kujala, Teija; Tervaniemi, Mari; Huotilainen, Minna

    2013-01-01

    We investigated the neural correlates induced by prenatal exposure to melodies using brains' event-related potentials (ERPs). During the last trimester of pregnancy, the mothers in the learning group played the 'Twinkle twinkle little star'-melody 5 times per week. After birth and again at the age of 4 months, we played the infants a modified melody in which some of the notes were changed while ERPs to unchanged and changed notes were recorded. The ERPs were also recorded from a control group, who received no prenatal stimulation. Both at birth and at the age of 4 months, infants in the learning group had stronger ERPs to the unchanged notes than the control group. Furthermore, the ERP amplitudes to the changed and unchanged notes at birth were correlated with the amount of prenatal exposure. Our results show that extensive prenatal exposure to a melody induces neural representations that last for several months. PMID:24205353

  9. Innovations in prenatal genetic testing beyond the fetal karyotype.

    PubMed

    Founds, Sandra

    2014-01-01

    Current trends in prenatal genetic testing will affect nursing practice, education, research, and policy making. Although fetal genetic testing has been the traditional focus, new technologies open the possibility of acquiring genomic information for both parents and offspring, revealing windows onto individuals' lifelong health. Noninvasive prenatal testing of cell-free fetal DNA also has become a reality. Some of the recent advances in detecting cytogenetic and heritable molecular variants in pregnancy are overviewed. Exemplars of prenatal tests are presented and related ethical, legal, and social implications are considered. Educating clinicians with updated genomic knowledge has been outpaced by new technologies and direct-to-consumer marketing of prenatal tests. Implications for nursing are discussed.

  10. Methodological Issues in Assessing the Impact of Prenatal Drug Exposure.

    PubMed

    Konijnenberg, Carolien

    2015-01-01

    Prenatal drug exposure is a common public health concern that can result in perinatal complications, birth defects, and developmental disorders. The growing literature regarding the effects of prenatal exposure to specific drugs such as tobacco, alcohol, cocaine, and heroin is often conflicting and constantly changing. This review discusses several reasons why the effects of prenatal drug exposure are so difficult to determine, including variations in dose, timing, duration of exposure, polydrug use, unreliable measures of drug exposure, latent or "sleeper" effects, genetic factors, and socioenvironmental influences. In addition to providing research guidelines, this review also aims to help clinicians and policy makers to identify the strengths and weaknesses in studies investigating the effects of prenatal drug exposure. This knowledge may be used to make better informed decisions regarding the appropriate treatment for pregnant, drug-dependent women and their children. PMID:26604776

  11. Prenatal stimulation and postnatal testosterone affects infanticide in female rats.

    PubMed

    Miley, W M; Blustein, J; Kennedy, K

    1982-04-01

    Prenatal handling, prenatal stress, and early postnatal exogeneous testosterone were examined in female rats for their effects on rat pup-killing and pup retrieval. During each of the last 5 days of pregnancy. Long-Evans rats received either 3 minutes of handling, 45 minutes of restraint and intense illumination or remained untouched. Half of the offspring of each group received testosterone from Day 1 after birth to Day 30. In adulthood, animals that received handling prenatally and testosterone postnatally killed pups more rapidly than any other group and a larger proportion did so than in the control groups. Animals not manipulated at any time retrieved pups more rapidly and a larger proportion did so than the combined other groups. The study suggests that prenatal handling interacts with testosterone presented immediately postnatally to increase infanticide in female rats. A variety of perinatal manipulations seem to suppress pup retrieval. PMID:7200619

  12. Impact of prenatal environmental stress on cortical development

    PubMed Central

    Ishii, Seiji; Hashimoto-Torii, Kazue

    2015-01-01

    Prenatal exposure of the developing brain to various types of environmental stress increases susceptibility to neuropsychiatric disorders such as autism, attention deficit hyperactivity disorder and schizophrenia. Given that even subtle perturbations by prenatal environmental stress in the cerebral cortex impair the cognitive and memory functions, this review focuses on underlying molecular mechanisms of pathological cortical development. We especially highlight recent works that utilized animal exposure models, human specimens or/and induced Pluripotent Stem (iPS) cells to demonstrate: (1) molecular mechanisms shared by various types of environmental stressors, (2) the mechanisms by which the affected extracortical tissues indirectly impact the cortical development and function, and (3) interaction between prenatal environmental stress and the genetic predisposition of neuropsychiatric disorders. Finally, we discuss current challenges for achieving a comprehensive understanding of the role of environmentally disturbed molecular expressions in cortical maldevelopment, knowledge of which may eventually facilitate discovery of interventions for prenatal environment-linked neuropsychiatric disorders. PMID:26074774

  13. Methodological Issues in Assessing the Impact of Prenatal Drug Exposure

    PubMed Central

    Konijnenberg, Carolien

    2015-01-01

    Prenatal drug exposure is a common public health concern that can result in perinatal complications, birth defects, and developmental disorders. The growing literature regarding the effects of prenatal exposure to specific drugs such as tobacco, alcohol, cocaine, and heroin is often conflicting and constantly changing. This review discusses several reasons why the effects of prenatal drug exposure are so difficult to determine, including variations in dose, timing, duration of exposure, polydrug use, unreliable measures of drug exposure, latent or “sleeper” effects, genetic factors, and socioenvironmental influences. In addition to providing research guidelines, this review also aims to help clinicians and policy makers to identify the strengths and weaknesses in studies investigating the effects of prenatal drug exposure. This knowledge may be used to make better informed decisions regarding the appropriate treatment for pregnant, drug-dependent women and their children. PMID:26604776

  14. First trimester prenatal diagnosis: earlier is not necessarily better.

    PubMed Central

    Boss, J A

    1994-01-01

    In the past few years considerable attention has been given to a relatively new method of prenatal diagnosis known as chorionic villus sampling (CVS). Because CVS can be performed in the first trimester it is hailed by many as a significant advance over amniocentesis. What has not been as publicized, however, are the disadvantages of CVS and earlier prenatal diagnosis. The emotional costs of CVS in terms of the greater number of both spontaneous and selective abortions following CVS, the use of CVS for sex selection and, because of the greater social acceptability of first trimester abortion, the possibility of increased pressure on women to undergo prenatal diagnosis by health insurance companies, medical professionals and government agencies, all need to be weighed against the advantages of early prenatal diagnosis. PMID:7996559

  15. Sonographic Evaluation of Cervical Lymphadenopathy; Comparison of Metastatic and Reactive Lymph Nodes in Patients With Head and Neck Squamous Cell Carcinoma Using Gray Scale and Doppler Techniques

    PubMed Central

    Ghafoori, Mahyar; Azizian, Amin; Pourrajabi, Zahra; Vaseghi, Hamed

    2015-01-01

    Background: Cervical lymphadenopathy could be seen in several pathologic processes. An accurate differentiation between these conditions is of utmost importance to select an appropriate therapy and assess the prognosis. Gray scale and Doppler are appropriate sonographic techniques for evaluating internal and external features of lymph nodes. Although, various criteria have been proposed to differentiate metastatic lymph nodes from benign ones, the most valuable and specific sonographic features are still under dispute. Objectives: The present study was designed to determine valuable sonographic features for differentiating metastasis from benign nodes using gray scale and Doppler sonography. Patients and Methods: A prospective diagnostic study was performed on 63 patients with head and neck squamous cell carcinoma (SCC) treated and referred to surgery clinic of Hazrat Rasoul Akram hospital from November 2010 to June 2012 with complaint of palpable cervical lymph node. All patients’ necks were scanned multidirectionally by gray-scale and Doppler techniques. After sonography, lymph nodes were biopsied and investigated to find out whether they were metastatic or reactive. Finally, demographic, sonographic and pathologic data were statistically analyzed by SPSS ver. 16 software using t-test, a nonparametric test and ROC analysis. Ninety five percent confidence interval was considered for all parameters. Results: The study included 41 males and 22 females with a mean age of 57.56 ± 13.79 years. The number of metastatic lymph nodes was 47, while the remaining 16 were reactive. There were significant differences in length (P = 0.037), width (P = 0.001), resistance index (P < 0.001), pulsatility index (P < 0.001) and systolic velocity (P < 0.001) of metastatic and reactive lymph nodes. Cut points for resistive and pulsatility indexes and systolic velocity were calculated as 0.695, 1.35 and 16.5, respectively. The most valuable factor for defining a lymph node as

  16. Invasive prenatal genetic testing: A Catholic healthcare provider's perspective

    PubMed Central

    Bringman, Jay J.

    2014-01-01

    Invasive prenatal testing is performed for a variety of reasons, but the most common indication is for genetic testing of the fetus. Although many times the information obtained from this type of testing results in selective termination of fetuses with genetic diagnoses, the information itself may be morally neutral. Should a Catholic healthcare provider be willing to perform invasive prenatal testing in the setting of uncertainty with respect to the patient's plans following a diagnosis of a genetic abnormality? PMID:25473130

  17. Implementing an oral health program in a group prenatal practice.

    PubMed

    Stevens, Joanne; Iida, Hiroko; Ingersoll, Gail

    2007-01-01

    The Rochester Adolescent Maternity Program (RAMP) has incorporated evidence-based oral health guidelines into its prenatal care. These guidelines focus on tracking oral health services, screening and triaging prenatal patients, and providing patient and staff with the education needed to decrease oral health risks to mother, fetus, and baby. The RAMP process serves as a model for promoting quality oral health practices in pregnant teenagers and their babies.

  18. Prenatal and Postnatal Maternal Stress and Wheeze in Urban Children

    PubMed Central

    Mathilda Chiu, Yueh-Hsiu; Coull, Brent A.; Cohen, Sheldon; Wooley, Alana

    2012-01-01

    Rationale: Critical periods for programming early wheeze risk may include pregnancy and infancy. Effects of timing remain poorly understood. Objectives: Associations among prenatal and postnatal maternal stress and children’s wheeze were prospectively examined in 653 families. Effect modification by maternal sensitization was also examined. Methods: Stress was indexed by a maternal negative life events (NLEs) score (range, 0–9) ascertained during pregnancy and between 1 and 2 years postpartum. Mothers reported child wheeze every 3 months up to age 2 years. Relationships of prenatal and postnatal maternal NLEs with repeated wheeze (≥2 episodes) were examined using logistic regression adjusting for covariates. Penalized splines were implemented to explore possible nonlinear associations. We also examined the interaction between prenatal stress and maternal sensitization indexed by allergen-specific IgE from maternal prenatal serum. Measurements and Main Results: Adjusted models considering prenatal or postnatal NLEs alone both showed an exposure-response relationship between higher stress and child wheeze. When considering prenatal and postnatal stress concurrently, only children of mothers with high stress in both periods were significantly more likely to wheeze (adjusted odds ratio, 3.04; 95% confidence interval, 1.67–5.53) than children of mothers reporting low stress in both periods. Associations between high prenatal stress and wheeze were significant in children born to nonsensitized mothers (any IgE <0.35 kU/L) but not in the sensitized group (P for interaction = 0.03). Conclusions: Although children have heightened sensitivity to maternal stress in utero and in early childhood, those with higher stress in both periods were particularly at risk for wheeze. The prenatal maternal immune milieu modified effects. PMID:22582161

  19. The quest for the perfect baby: why do Israeli women seek prenatal genetic testing?

    PubMed

    Remennick, Larissa

    2006-01-01

    Since the mid-1990s, the Israeli medical scene has witnessed a real boom in elective prenatal testing for inherited diseases that has spread beyond risk groups to the general Jewish population, especially of Ashkenazi (European) origin. This study tried to identify key social influences involved in the growing range and prevalence of prenatal genetic tests as they emerged from women's own perspective. Twenty-seven women having blood tests for genetic mutations were interviewed at two types of genetic clinics, and re-interviewed after getting test results. The names of 23 women who chose not to have elective tests were obtained from testers, and these non-testers were interviewed for comparison. Women's accounts suggest that elective genetic testing is more acceptable, if not normative, among educated middle class Ashkenazi women, and is more often questioned and refused by lower class Mizrahi women, as well as religious women of any ethnic origin. The key forces that drive women's choice of prenatal genetic diagnosis include the fear of having a sick and/or socially unfit child in an unsupportive environment; strong endorsement of testing by gynaecologists; popular and professional discourse on the common Ashkenazi mutations causing genetic anxiety in this ethnic group (i.e. apprehension of multiple known and unknown dangers hidden in its genetic makeup); and the emerging social pressure for comprehensive prenatal screening as an indispensable part of good motherhood. Many women described the experience of testing as frustrating because of the long wait for results and difficulty of their interpretation and subsequent decision-making. Women who rejected elective tests explained their decision by moral/religious objections to abortion and/or eugenic aspects of prenatal screening, as well as by prohibitive costs and poor understanding of the tests' meaning and implications. Yet, few informants voiced objections to the excessive medicalisation of pregnancy as such

  20. Carrier detection and prenatal diagnosis in haemophilia in India: realities and challenges.

    PubMed

    Ghosh, K; Shetty, S; Pawar, A; Mohanty, D

    2002-01-01

    Organizing services for haemophilia in developing countries with few resources is a formidable task. There is wide variation in haemophilia care and management between developing and developed countries. The management of a genetic disorder such as haemophilia becomes difficult in developing countries where scanty resources are allocated mainly to nutrition and infectious diseases as a first priority. In a country such as India, with one billion people and with a wide diversity in cultural, educational and financial conditions, educating people about such diseases is difficult and will take a long time to have an effect on attitudes. Meanwhile, attempts are being made at several centres in India to develop carrier detection and prenatal diagnosis for this disease. Counselling a carrier for detection of her carrier status remains problematic in India because marriages are still largely arranged by the parents of prospective brides and bridegrooms. Hence, the very idea of communicating the carrier status to the bridegrooms' families may lead to cancellation of the marriages, and concealing the carrier status is associated with guilt both for the bride's parents as well as the bride. Prenatal diagnosis and carrier detection in India therefore must be discussed in this context.

  1. Protective effect of early prenatal stress on the induction of asthma in adult mice: Sex-specific differences.

    PubMed

    Vargas, Mauro Henrique Moraes; Campos, Natália Evangelista; de Souza, Rodrigo Godinho; da Cunha, Aline Andrea; Nuñez, Nailê Karine; Pitrez, Paulo Márcio; Donadio, Márcio Vinícius Fagundes

    2016-10-15

    Adversities faced during the prenatal period can be related to the onset of diseases in adulthood. However, little is known about the effects on the respiratory system. This study aimed to evaluate the effects of prenatal stress in two different time-points during pregnancy on pulmonary function and on the inflammatory profile of mice exposed to an asthma model. Male and female BALB/c mice were divided into 3 groups: control (CON), prenatal stress from the second week of pregnancy (PNS1) and prenatal stress on the last week of pregnancy (PNS2). Both PNS1 and PNS2 pregnant females were submitted to restraint stress. As adults, fear/anxiety behaviors were assessed, and animals were subjected to an asthma model induced by ovalbumin. Pulmonary function, inflammatory parameters in bronchoalveolar lavage (BAL) and histology were evaluated. There was a significant decrease in the number of entries and time spent in the central quadrant on the open field test for the PNS1 animals. Females (PNS1) showed improved pulmonary function (airway resistance, tissue damping and pulmonary elastance), significant increase in the percentage of neutrophils and lymphocytes and a decrease in eosinophils when compared to controls. There was a significant decrease in inflammatory cytokines in BAL of both males (IL-5 and IL-13) and females (IL-4, IL-5 and IL-13) from PNS1 and PNS2 when compared to the CON group. Prenatal stress starting from the beginning of pregnancy reduces the impact of asthma development in adult female mice, showing an improved pulmonary function and a lower inflammatory response in the lungs. PMID:27568231

  2. Protective effect of early prenatal stress on the induction of asthma in adult mice: Sex-specific differences.

    PubMed

    Vargas, Mauro Henrique Moraes; Campos, Natália Evangelista; de Souza, Rodrigo Godinho; da Cunha, Aline Andrea; Nuñez, Nailê Karine; Pitrez, Paulo Márcio; Donadio, Márcio Vinícius Fagundes

    2016-10-15

    Adversities faced during the prenatal period can be related to the onset of diseases in adulthood. However, little is known about the effects on the respiratory system. This study aimed to evaluate the effects of prenatal stress in two different time-points during pregnancy on pulmonary function and on the inflammatory profile of mice exposed to an asthma model. Male and female BALB/c mice were divided into 3 groups: control (CON), prenatal stress from the second week of pregnancy (PNS1) and prenatal stress on the last week of pregnancy (PNS2). Both PNS1 and PNS2 pregnant females were submitted to restraint stress. As adults, fear/anxiety behaviors were assessed, and animals were subjected to an asthma model induced by ovalbumin. Pulmonary function, inflammatory parameters in bronchoalveolar lavage (BAL) and histology were evaluated. There was a significant decrease in the number of entries and time spent in the central quadrant on the open field test for the PNS1 animals. Females (PNS1) showed improved pulmonary function (airway resistance, tissue damping and pulmonary elastance), significant increase in the percentage of neutrophils and lymphocytes and a decrease in eosinophils when compared to controls. There was a significant decrease in inflammatory cytokines in BAL of both males (IL-5 and IL-13) and females (IL-4, IL-5 and IL-13) from PNS1 and PNS2 when compared to the CON group. Prenatal stress starting from the beginning of pregnancy reduces the impact of asthma development in adult female mice, showing an improved pulmonary function and a lower inflammatory response in the lungs.

  3. Salivary cortisol levels are elevated in the afternoon and at bedtime in children with prenatal alcohol exposure.

    PubMed

    Keiver, Kathy; Bertram, Chris P; Orr, Alison Pritchard; Clarren, Sterling

    2015-02-01

    Prenatal alcohol exposure can cause dysregulation of the hypothalamic-pituitary-adrenal (HPA) axis, which may underlie some of the behavioral and adaptive problems seen in individuals with Fetal Alcohol Spectrum Disorders (FASD). Infants prenatally exposed to alcohol show altered basal and post-stress cortisol levels, but it is unknown if this persists beyond 2 years of age. It is also unknown if cortisol levels can be normalized through intervention programs. In this study, we investigated the effects of a physical activity program for children with FASD to determine: 1) if HPA dysregulation persists in school-age children with FASD, and 2) the effect of our program on cortisol levels. Twenty six children (ages 6-14 years) with FASD participated in an 8 week motor skill development program. Salivary cortisol levels were measured in 24 children and compared at 4 time points: before, immediately after, 3 months, and 1 year after program completion. Cortisol levels were also compared to 32 control children to evaluate the long-term effects of prenatal alcohol exposure on HPA regulation. For each time point, saliva was collected on each of 2 days at 3 times in the diurnal cycle: awakening, after school, and just before bedtime. Cortisol levels were significantly higher in the afternoon and at bedtime in children with FASD with confirmed prenatal exposure to high levels of alcohol (alcohol exposure rank 4), compared with Control children or children with FASD with exposure to low or unknown levels of alcohol (alcohol exposure rank 3). The program did not significantly affect cortisol levels in children with FASD as a group. These results provide support for long-term effects of prenatal alcohol exposure on the HPA system in humans, which could increase vulnerability to mental health issues and diseases later in life.

  4. Salivary cortisol levels are elevated in the afternoon and at bedtime in children with prenatal alcohol exposure.

    PubMed

    Keiver, Kathy; Bertram, Chris P; Orr, Alison Pritchard; Clarren, Sterling

    2015-02-01

    Prenatal alcohol exposure can cause dysregulation of the hypothalamic-pituitary-adrenal (HPA) axis, which may underlie some of the behavioral and adaptive problems seen in individuals with Fetal Alcohol Spectrum Disorders (FASD). Infants prenatally exposed to alcohol show altered basal and post-stress cortisol levels, but it is unknown if this persists beyond 2 years of age. It is also unknown if cortisol levels can be normalized through intervention programs. In this study, we investigated the effects of a physical activity program for children with FASD to determine: 1) if HPA dysregulation persists in school-age children with FASD, and 2) the effect of our program on cortisol levels. Twenty six children (ages 6-14 years) with FASD participated in an 8 week motor skill development program. Salivary cortisol levels were measured in 24 children and compared at 4 time points: before, immediately after, 3 months, and 1 year after program completion. Cortisol levels were also compared to 32 control children to evaluate the long-term effects of prenatal alcohol exposure on HPA regulation. For each time point, saliva was collected on each of 2 days at 3 times in the diurnal cycle: awakening, after school, and just before bedtime. Cortisol levels were significantly higher in the afternoon and at bedtime in children with FASD with confirmed prenatal exposure to high levels of alcohol (alcohol exposure rank 4), compared with Control children or children with FASD with exposure to low or unknown levels of alcohol (alcohol exposure rank 3). The program did not significantly affect cortisol levels in children with FASD as a group. These results provide support for long-term effects of prenatal alcohol exposure on the HPA system in humans, which could increase vulnerability to mental health issues and diseases later in life. PMID:25583378

  5. [Fetal ocular anomalies: the advantages of prenatal magnetic resonance imaging].

    PubMed

    Brémond-Gignac, D; Copin, H; Elmaleh, M; Milazzo, S

    2010-05-01

    Congenital ocular malformations are uncommon and require prenatal diagnosis. Severe anomalies are more often detected by trained teams and minor anomalies are more difficult to identify and must be systematically sought, particularly when multiple malformations or a family and maternal history is known. The prenatal diagnosis-imaging tool most commonly used is ultrasound but it can be completed by magnetic resonance imaging (MRI), which contributes crucial information. Fetal dysmorphism can occur in various types of dysfunction and prenatal diagnosis must recognize fetal ocular anomalies. After systematic morphologic ultrasound imaging, different abnormalities detected by MRI are studied. Classical parameters such as binocular and interorbital measurements are used to detect hypotelorism and hypertelorism. Prenatal ocular anomalies such as cataract microphthalmia, anophthalmia, and coloboma have been described. Fetal MRI added to prenatal sonography is essential in detecting cerebral and general anomalies and can give more information on the size and morphology of the eyeball. Fetal abnormality detection includes a detailed family and maternal history, an amniotic fluid sample for karyotype, and other analyses for a better understanding of the images. Each pregnancy must be discussed with all specialists for genetic counseling. With severe malformations, termination of pregnancy is proposed because of risk of blindness and associated cerebral or systemic anomalies. Early prenatal diagnosis of ocular malformations can also detect associated abnormalities, taking congenital cataracts that need surgical treatment into account as early as possible. Finally, various associated syndromes need a pediatric check-up that could lead to emergency treatment.

  6. Environmental enrichment restores cognitive deficits induced by prenatal maternal seizure.

    PubMed

    Xie, Tao; Wang, Wei-ping; Jia, Li-jing; Mao, Zhuo-feng; Qu, Zhen-zhen; Luan, Shao-qun; Kan, Min-chen

    2012-08-27

    Maternal seizure has adverse effects on brain histology as well as on learning and memory ability in progeny. An enriched environment (EE) is known to promote structural changes in the brain and improve cognitive and motor deficits following a variety of brain injuries. Whether EE treatment in early postnatal periods could restore cognitive impairment induced by prenatal maternal seizure is unknown. Adult female Sprague-Dawley rats were randomly separated into two groups and were injected intraperitoneally either saline or pentylenetetrazol (PTZ) for 30 days. Then the fully kindled rats and control animals were allowed to mate. PTZ administration was continued until delivery, while the control group received saline at the same time. After weaning at postnatal day 22, one-half of the male offspring in the control and in the prenatal maternal group were given the environmental enrichment treatment through all the experiments until they were tested. Morris water maze testing was performed at 8 weeks of age. Western blot and synaptic ultrastructure analysis were then performed. We found that EE treatment reversed spatial learning deficits induced by prenatal maternal seizure. An EE also reversed the changes in synaptic ultrastructure following prenatal maternal seizure. In addition, prenatal maternal seizure significantly decreased phosphorylation states of cAMP response element binding (CREB) in the hippocampus, whereas EE reversed this reduced expression. These findings suggest that EE treatment on early postnatal periods could be a potential therapy for improving cognitive deficits induced by prenatal maternal seizure.

  7. Prenatal screening: an ethical agenda for the near future.

    PubMed

    de Jong, Antina; de Wert, Guido M W R

    2015-01-01

    Prenatal screening for foetal abnormalities such as Down's syndrome differs from other forms of population screening in that the usual aim of achieving health gains through treatment or prevention does not seem to apply. This type of screening leads to no other options but the choice between continuing or terminating the pregnancy and can only be morally justified if its aim is to provide meaningful options for reproductive choice to pregnant women and their partners. However, this aim should not be understood as maximizing reproductive choice per se. Only if understood as allowing prospective parents to avoid suffering related to living with (a child with) serious disorders and handicaps can prenatal screening be a publicly or collectively funded programme. The alternative of moving prenatal testing outside the healthcare system into the private sector is problematic, as it makes these tests accessible only to those who can afford to pay for it. New developments in prenatal screening will have to be assessed in terms of whether and to what extent they either contribute to or undermine the stated aim of providing meaningful options for reproductive choice. In the light of this criterion, this article discusses the introduction of the new non-invasive prenatal test (NIPT), the tendency to widen the scope of follow-up testing, as well as the possible future scenarios of genome-wide screening and 'prenatal personalised medicine'. The article ends with recommendations for further debate, research and analysis. PMID:25521973

  8. Prenatal screening: an ethical agenda for the near future.

    PubMed

    de Jong, Antina; de Wert, Guido M W R

    2015-01-01

    Prenatal screening for foetal abnormalities such as Down's syndrome differs from other forms of population screening in that the usual aim of achieving health gains through treatment or prevention does not seem to apply. This type of screening leads to no other options but the choice between continuing or terminating the pregnancy and can only be morally justified if its aim is to provide meaningful options for reproductive choice to pregnant women and their partners. However, this aim should not be understood as maximizing reproductive choice per se. Only if understood as allowing prospective parents to avoid suffering related to living with (a child with) serious disorders and handicaps can prenatal screening be a publicly or collectively funded programme. The alternative of moving prenatal testing outside the healthcare system into the private sector is problematic, as it makes these tests accessible only to those who can afford to pay for it. New developments in prenatal screening will have to be assessed in terms of whether and to what extent they either contribute to or undermine the stated aim of providing meaningful options for reproductive choice. In the light of this criterion, this article discusses the introduction of the new non-invasive prenatal test (NIPT), the tendency to widen the scope of follow-up testing, as well as the possible future scenarios of genome-wide screening and 'prenatal personalised medicine'. The article ends with recommendations for further debate, research and analysis.

  9. Effects of prenatal tobacco exposure on preschoolers' behavior.

    PubMed

    Day, N L; Richardson, G A; Goldschmidt, L; Cornelius, M D

    2000-06-01

    This is a longitudinal study of the relationship between prenatal tobacco exposure and the development of behavior problems in 672 children at the age of 3 years. Women from a prenatal clinic were interviewed about substance use at the end of each trimester of their pregnancy and at 3 years postpartum. Children were assessed at the age of 3 years with maternal ratings of behavior problems, activity, and attention. The prevalence of tobacco use was high in this cohort; 54.3% and 52.3% of the women smoked tobacco in the first and third trimesters of pregnancy, respectively. At 3 years postpartum, 61.6% of the women were smokers. There were significant effects of prenatal tobacco exposure on the children's behavior at age 3 years. Increases in scores on the Oppositional Behavior, Immaturity, Emotional Instability, Physical Aggression, and Activity scales and in the total score on the Toddler Behavior Checklist (TBC) were significantly associated with prenatal tobacco exposure. Smoking one pack of tobacco cigarettes per day during the third trimester of pregnancy was associated with an increase of 6 points in the total problem behavior score. Among the subscales of the TBC, tobacco exposure had the largest effect on oppositional behavior. Impulsivity and peer problems were associated with both prenatal and current tobacco exposure. Only current tobacco exposure predicted attention problems. Prenatal tobacco exposure had a significant negative effect on the development of behavior problems among preschoolers. PMID:10883878

  10. Non-invasive prenatal testing using massively parallel sequencing of maternal plasma DNA: from molecular karyotyping to fetal whole-genome sequencing.

    PubMed

    Lo, Y M Dennis

    2013-12-01

    The discovery of cell-free fetal DNA in maternal plasma in 1997 has stimulated a rapid development of non-invasive prenatal testing. The recent advent of massively parallel sequencing has allowed the analysis of circulating cell-free fetal DNA to be performed with unprecedented sensitivity and precision. Fetal trisomies 21, 18 and 13 are now robustly detectable in maternal plasma and such analyses have been available clinically since 2011. Fetal genome-wide molecular karyotyping and whole-genome sequencing have now been demonstrated in a number of proof-of-concept studies. Genome-wide and targeted sequencing of maternal plasma has been shown to allow the non-invasive prenatal testing of β-thalassaemia and can potentially be generalized to other monogenic diseases. It is thus expected that plasma DNA-based non-invasive prenatal testing will play an increasingly important role in future obstetric care. It is thus timely and important that the ethical, social and legal issues of non-invasive prenatal testing be discussed actively by all parties involved in prenatal care.

  11. Longitudinal design for sonographic measurement of median nerve swelling with controlled exposure to physical work using an animal model.

    PubMed

    Roll, Shawn C; Evans, Kevin D; Volz, Kevin R; Sommerich, Carolyn M

    2013-12-01

    In the study described here, we examined the feasibility of a longitudinal design to measure sonographically swelling of the median nerve caused by controlled exposure to a work task and to evaluate the relationship of changes in morphology to diagnostic standards. Fifteen macaques, Macaca fascicularis, pinched a lever in various wrist positions at a self-regulated pace (8 h/d, 5 d/wk, 18-20 wk). Nerve conduction velocity (NCV) and cross-sectional area (CSA) were measured every 2 wk from baseline through working and a 6-wk recovery. Trending across all subjects revealed that NCV slowed and CSA at the carpal tunnel increased in the working arm, whereas no changes were observed in CSA either at the forearm or for any measure in the non-working arm. There was a small negative correlation between NCV and CSA in the working arm. This study provides validation that swelling can be observed using a longitudinal design. Longitudinal human studies are needed to describe the trajectory of nerve swelling for early identification of median nerve pathology.

  12. Longitudinal design for sonographic measurement of median nerve swelling with controlled exposure to physical work using an animal model

    PubMed Central

    Roll, Shawn C.; Evans, Kevin D.; Volz, Kevin R.; Sommerich, Carolyn M.

    2013-01-01

    This study examined the feasibility of a longitudinal design to sonographically measure swelling of the median nerve due to controlled exposure to a work task and to evaluate the relationship of changes in morphology to diagnostic standards. Fifteen macaca fascicularis pinched a lever in various wrist positions at a self-regulated pace (8 hours/day, 5 days/week, 18–20 weeks). Nerve conduction velocity (NCV) and cross-sectional area (CSA) were obtained every two weeks from baseline through working and a 6-week recovery. Trending across all subjects showed that NCV slowed and CSA at the carpal tunnel increased in the working arm, while no changes were observed in CSA either at the forearm or for any measure in the non-working arm. There was a small negative correlation between NCV and CSA in the working arm. This study provides validation that swelling can be observed using a longitudinal design. Longitudinal human studies are needed to describe the trajectory of nerve swelling for early identification of median nerve pathology. PMID:24139197

  13. Transinguinal sonographic determination of the position of the femoral head after reposition and follow-up in a spica cast

    PubMed Central

    Nievelstein, Rutger-Jan; Pruijs, Hans E.; de Jong, Pim A.; Sakkers, Ralph J. B.

    2010-01-01

    Background Transinguinal sonography can be used to demonstrate the position of the femoral head after reduction of a dislocated hip. Objective To determine whether transinguinal sonography can replace radiography and CT in the follow-up after reduction of a hip dislocation? Materials and methods Thirty-three children with 39 dislocated hips were followed up with sonography after reduction and immobilization in a spica cast. In cases of an abnormal position a CT scan was advised. A pelvic radiograph at the end of treatment served as an indicator that no dislocations were missed during the previous sonographic examinations. Results The repositioned hips were examined on 138 occasions. Twenty-four examinations were abnormal and CT scanning was performed on 11 occasions. In four children additional CT was done because a recurrent dislocation was suspected or because sonography was difficult to perform. No dislocations were demonstrated. In five children a recurrent dislocation was suspected, on one or more occasions. In all but one child a CT scan was performed that confirmed the dislocation. Conclusion Transinguinal sonography is well-suited to demonstrate a normal position of the femoral head in a spica cast. Transinguinal sonography decreases the number of radiographs and CT scans and reduces the exposure to ionizing radiation. PMID:20552186

  14. Sonographic and Histological Morphometry of the Uterine Cervix—An Assessment of Laparoscopic and Other lntrafascial Hysterectomy Techniques

    PubMed Central

    Semm, Kurt; Lüttges, Jutta; Mettler, Lieselotte

    1995-01-01

    New abdominal and vaginal hysterectomy techniques, such as classic intrafascial serrated edged macro-morcellator (SEMM) hysterectomy (CISH), by pelviscopy/laparoscopy or laparotomy, and intrafascial vaginal hysterectomy (IVH), are both essentially supravaginal techniques. It has been claimed that they give a prophylaxis against cervical stump carcinoma by coring out the cervix with the SEMM. We set out to answer two questions: 1) How can vaginosonography help to choose an adequate SEMM diameter so that the cervical mucosa and transformation zone are completely removed, and 2) How often do cervical glands remain after the coring out procedure? We were able to show a good correlation between sonographic and histological morphology by giant and serial sections. In 253 CISH operations, resection of both endocervix and transformation zone was complete in 92.9%. Dysplasias were always removed completely; only 18 cervical cores exhibited healthy glands (retention cysts) in the resection margin. Therefore, CISH procedures should be able to prevent most of the cervical stump carcinomata that follow traditional supravaginal hysterectomy, but only long-term follow-up will give the final proof. PMID:18493385

  15. Prenatal zinc prevents communication impairments and BDNF disturbance in a rat model of autism induced by prenatal lipopolysaccharide exposure.

    PubMed

    Kirsten, Thiago B; Queiroz-Hazarbassanov, Nicolle; Bernardi, Maria M; Felicio, Luciano F

    2015-06-01

    Aims: Previous investigations by our group have shown that prenatal exposure to lipopolysaccharide (LPS),which mimics infections by Gram-negative bacteria, induced autistic-like behavior. No effective treatment yet exists for autism. Therefore, we used our rat model to test a possible treatment for autism.We selected zinc as the prenatal treatment to prevent or ease the impairments induced by LPS because LPS induces hypozincaemia.Materials and methods:We evaluated the effects of LPS and zinc on female reproductive performance. Communication,which is impaired in autism,was tested in pups by ultrasonic vocalizations. Plasma levels of brain-derived neurotrophic factor (BDNF) were determined because it has been considered an autism important biomarker.Key findings: Prenatal LPS exposure reduced offspring number and treatment with zinc prevented this reduction.Moreover, pups that were prenatally exposed to LPS spent longer periods without calling their mothers, and posttreatment with zinc prevented this impairment induced by LPS to the same levels as controls. Prenatal LPS also increased BDNF levels in adult offspring, and posttreatment with zinc reduced the elevation of BDNF to the same levels as controls.Significance: BDNF hyperactivity was also found in several studies of autistic patients. Together with our previous studies, our model of prenatal LPS induced autistic-like behavioral, brain, and immune disturbances. This suggests that it is a valid rat model of autism. Prenatal zinc prevented reproductive, communication, and BDNF impairments.The present study revealed a potential beneficial effect of prenatal zinc administration for the prevention of autism with regard to the BDNF pathway. PMID:25817235

  16. Non-Invasive Prenatal Diagnosis of Lethal Skeletal Dysplasia by Targeted Capture Sequencing of Maternal Plasma

    PubMed Central

    Wang, Yaoshen; Chen, Chao; Gao, Changxin; Yu, Song; Liu, Yan; Song, Wei; Asan; Zhu, Hongmei; Yang, Ling; Deng, Hongmei; Su, Yue; Yi, Xin

    2016-01-01

    Background Since the discovery of cell-free foetal DNA in the plasma of pregnant women, many non-invasive prenatal testing assays have been developed. In the area of skeletal dysplasia diagnosis, some PCR-based non-invasive prenatal testing assays have been developed to facilitate the ultrasound diagnosis of skeletal dysplasias that are caused by de novo mutations. However, skeletal dysplasias are a group of heterogeneous genetic diseases, the PCR-based method is hard to detect multiple gene or loci simultaneously, and the diagnosis rate is highly dependent on the accuracy of the ultrasound diagnosis. In this study, we investigated the feasibility of using targeted capture sequencing to detect foetal de novo pathogenic mutations responsible for skeletal dysplasia. Methodology/Principal Findings Three families whose foetuses were affected by skeletal dysplasia and two control families whose foetuses were affected by other single gene diseases were included in this study. Sixteen genes related to some common lethal skeletal dysplasias were selected for analysis, and probes were designed to capture the coding regions of these genes. Targeted capture sequencing was performed on the maternal plasma DNA, the maternal genomic DNA, and the paternal genomic DNA. The de novo pathogenic variants in the plasma DNA data were identified using a bioinformatical process developed for low frequency mutation detection and a strict variant interpretation strategy. The causal variants could be specifically identified in the plasma, and the results were identical to those obtained by sequencing amniotic fluid samples. Furthermore, a mean of 97% foetal specific alleles, which are alleles that are not shared by maternal genomic DNA and amniotic fluid DNA, were identified successfully in plasma samples. Conclusions/Significance Our study shows that capture sequencing of maternal plasma DNA can be used to non-invasive detection of de novo pathogenic variants. This method has the potential

  17. [The need of prenatal public health initiatives in Poland].

    PubMed

    Jarosz, Mirosław J

    2012-11-01

    The author emphasizes the achievements of the Polish Gynecological Society in the field of improving the health indicators concerning perinatal mortality among infants during the last two decades in Poland. Attention is paid to the contribution of the members of the Society to organizational change in Polish health care after 1990, which resulted in the improvement of the care of mother and child. It is also underlined that the members of the Society contributed to the creation of early detection system of breast and cervical cancer in Poland. However it is noteworthy that in 'Polish Gynecology' - the publication of the Polish Gynecological Society - the number of reports devoted to risky health behaviors of women during periconceptional period and pregnancy is scarce. The author draws attention to the percentage of women who smoke cigarettes and consume alcohol before and during pregnancy Emphasis is also placed on the problem of nutritional disorders (mainly pathological methods of dieting) among Polish women during the reproductive period and in the first weeks of pregnancy (before the pregnancy is confirmed). These aspects may result in epigenetic changes shaping the phenotype of the offspring. The author refers to the Barker's theory of Developmental Origins of Adult Diseases and warns that the above-mentioned health behaviors of women may bring about negative effects for the offspring and future generations, namely susceptibility to chronic diseases: arterial hypertension, obesity type 2 diabetes and metabolic syndrome. Negative effects for the health of offspring may also result from low level of physical activity of women before and during pregnancy The author concludes that it is necessary to intensify the efforts of the Polish Gynecological Society in the area of prenatal public health.

  18. An evaluation of the Kessner Adequacy of Prenatal Care Index and a proposed Adequacy of Prenatal Care Utilization Index.

    PubMed Central

    Kotelchuck, M

    1994-01-01

    OBJECTIVES. The assessment of the adequacy of prenatal care utilization is heavily shaped by the way in which utilization is measured. Although it is widely used, the current major index of utilization, the Kessner/Institute of Medicine Index, has not been subjected to systematic examination. This paper provides such an examination. METHODS. Data from the 1980 National Natality Survey are used to disaggregate the components of the Kessner Index for detailed analysis. An alternative two-part index, the Adequacy of Prenatal Care Utilization Index, is proposed that combines independent assessments of the timing of prenatal care initiation and the frequency of visits received after initiation. RESULTS. The Kessner Index is seriously flawed. It is heavily weighted toward timing of prenatal care initiation does not distinguish timing of initiation from poor subsequent utilization, inaccurately measures utilization for full- or post-term pregnancies, and lacks sufficient documentation for consistent computer programming. CONCLUSIONS. The Adequacy of Prenatal Care Utilization Index offers a more accurate and comprehensive set of measures of prenatal care utilization than the Kessner Index. PMID:8092364

  19. Do increases in payments for obstetrical deliveries affect prenatal care?

    PubMed

    Fox, M H; Phua, K L

    1995-01-01

    Raising fees is one of the primary means that State Medicaid Programs employ to maintain provider participation. While a number of studies have sought to quantify the extent to which this policy retains or attracts providers, few have looked at the impact of these incentives on patients. In this study, the authors used Medicaid claims data to examine changes in volume and site of prenatal care among women who delivered babies after the Maryland Medicaid Program raised physicians fees for deliveries 200 percent at the end of its 1986 fiscal year. Although the State's intent was to stabilize the pool of nonhospital providers who were willing to deliver Medicaid babies, it was also hoped that women would benefit through greater access to prenatal care, especially care rendered in a nonhospital setting. The authors' hypotheses were that (a) the fee increase for obstetrical deliveries would result in an increase in prenatal visits by women on Medicaid, and (b) the fee increase would lead to a shift in prenatal visits from hospital to community based providers. The data for Maryland's Medicaid claims for the fiscal years 1985 through 1987 were used. Comparisons were made in the average number of prenatal visits and the ratio of hospital to nonhospital prenatal visits before and after the fee increase. Data for continuously enrolled women who delivered in the last 4 months of each fiscal year were analyzed for between and within year differences using Student's t-test and ANOVA techniques. The findings indicate very little overall change in either the amount or location of prenatal care during the year after the large fee increase for deliveries.Though significant increases in the number of prenatal visits occurred for women who lived outside of Baltimore City, it is difficult to attribute these changes solely to the fee increase. Where an effect was observed, it appeared to be greatest in non urban areas of the State, probably because coordination of care by fewer

  20. Prenatal diagnosis of female monozygotic twins discordant for Turner syndrome: implications for prenatal genetic counselling.

    PubMed

    Gilbert, B; Yardin, C; Briault, S; Belin, V; Lienhardt, A; Aubard, Y; Battin, J; Servaud, M; Philippe, H J; Lacombe, D

    2002-08-01

    We describe a set of monozygotic (MZ) female twins, one of whom presented with a typical Turner syndrome (TS) phenotype and the other a normal female phenotype. Prenatal fetal ultrasonographic examination showed a monochorial diamniotic pregnancy with a hygroma colli and growth delay in Twin A and no anomalies in Twin B. Karyotypic analysis performed on fetal blood samples demonstrated a 46,XX/45,X (23/2) mosaicism in Twin A and a normal 46,XX chromosome constitution in Twin B. At birth, Twin A presented with a typical TS and Twin B had a normal female phenotype. Postnatal cytogenetic investigation of blood lymphocytes showed the same 46,XX/45,X mosaicism in both twins: 46,XX/45,X (40/7) in Twin A and 46,XX/45,X (40/5) in Twin B. Further investigations at the age of 10 months showed in Twin A a 46,XX/45,X (98/2) mosaicism in lymphocytes and 100% of 45,X (50 analysed cells) in fibroblasts, and in Twin B a normal 46,XX (100 analysed cells) chromosome constitution in lymphocytes but a mild 46,XX/45,X (78/2) mosaicism in fibroblasts. Monozygosity was confirmed by molecular analysis. To our knowledge, this is the first report of prenatal diagnosis of MZ female twins discordant for TS. Review of reported sets of MZ female twins (eight cases) or triplets (one case) discordant for TS shows, as in the present case, that the phenotype correlates better with the chromosomal distribution of mosaicism in fibroblasts than in lymphocytes. In the blood of MZ twins chimerism may modify the initial allocation of the mosaicism. These results suggest that, in cases of prenatal diagnosis of MZ female twins discordant for TS, the phenotype of each twin would be better predicted from karyotype analysis of cells from amniotic fluid than from fetal blood.

  1. Disentangling Prenatal and Postnatal Maternal Genetic Effects Reveals Persistent Prenatal Effects on Offspring Growth in Mice

    PubMed Central

    Wolf, Jason B.; Leamy, Larry J.; Roseman, Charles C.; Cheverud, James M.

    2011-01-01

    Mothers are often the most important determinant of traits expressed by their offspring. These “maternal effects” (MEs) are especially crucial in early development, but can also persist into adulthood. They have been shown to play a role in a diversity of evolutionary and ecological processes, especially when genetically based. Although the importance of MEs is becoming widely appreciated, we know little about their underlying genetic basis. We address the dearth of genetic data by providing a simple approach, using combined genotype information from parents and offspring, to identify “maternal genetic effects” (MGEs) contributing to natural variation in complex traits. Combined with experimental cross-fostering, our approach also allows for the separation of pre- and postnatal MGEs, providing rare insights into prenatal effects. Applying this approach to an experimental mouse population, we identified 13 ME loci affecting body weight, most of which (12/13) exhibited prenatal effects, and nearly half (6/13) exhibiting postnatal effects. MGEs contributed more to variation in body weight than the direct effects of the offsprings’ own genotypes until mice reached adulthood, but continued to represent a major component of variation through adulthood. Prenatal effects always contributed more variation than postnatal effects, especially for those effects that persisted into adulthood. These results suggest that MGEs may be an important component of genetic architecture that is generally overlooked in studies focused on direct mapping from genotype to phenotype. Our approach can be used in both experimental and natural populations, providing a widely practicable means of expanding our understanding of MGEs. PMID:21890739

  2. Prenatal choline supplementation mitigates the adverse effects of prenatal alcohol exposure on development in rats.

    PubMed

    Thomas, Jennifer D; Abou, Elizabeth J; Dominguez, Hector D

    2009-01-01

    Prenatal alcohol exposure can lead to a range of physical, neurological, and behavioral alterations referred to as fetal alcohol spectrum disorders (FASD). Variability in outcome observed among children with FASD is likely related to various pre- and postnatal factors, including nutritional variables. Choline is an essential nutrient that influences brain and behavioral development. Recent animal research indicates that prenatal choline supplementation leads to long-lasting cognitive enhancement, as well as changes in brain morphology, electrophysiology and neurochemistry. The present study examined whether choline supplementation during ethanol exposure effectively reduces fetal alcohol effects. Pregnant dams were exposed to 6.0g/kg/day ethanol via intubation from gestational days (GD) 5-20; pair-fed and lab chow controls were included. During treatment, subjects from each group received choline chloride (250mg/kg/day) or vehicle. Physical development and behavioral development (righting reflex, geotactic reflex, cliff avoidance, reflex suspension and hindlimb coordination) were examined. Subjects prenatally exposed to alcohol exhibited reduced birth weight and brain weight, delays in eye opening and incisor emergence, and alterations in the development of all behaviors. Choline supplementation significantly attenuated ethanol's effects on birth and brain weight, incisor emergence, and most behavioral measures. In fact, behavioral performance of ethanol-exposed subjects treated with choline did not differ from that of controls. Importantly, choline supplementation did not influence peak blood alcohol level or metabolism, indicating that choline's effects were not due to differential alcohol exposure. These data indicate early dietary supplements may reduce the severity of some fetal alcohol effects, findings with important implications for children of women who drink alcohol during pregnancy.

  3. Postnatal Evaluation and Outcome of Prenatal Hydronephrosis

    PubMed Central

    Sadeghi-Bojd, Simin; Kajbafzadeh, Abdol-Mohammad; Ansari-Moghadam, Alireza; Rashidi, Somaye

    2016-01-01

    Background: Prenatal hydronephrosis (PNH) is dilation in urinary collecting system and is the most frequent neonatal urinary tract abnormality with an incidence of 1% to 5% of all pregnancies. PNH is defined as anteroposterior diameter (APD) of renal pelvis ≥ 4 mm at gestational age (GA) of < 33 weeks and APD ≥ 7 mm at GA of ≥ 33 weeks to 2 months after birth. All patients need to be evaluated after birth by postnatal renal ultrasonography (US). In the vast majority of cases, watchful waiting is the only thing to do; others need medical or surgical therapy. Objectives: There is a direct relationship between APD of renal pelvis and outcome of PNH. Therefore we were to find the best cutoff point APD of renal pelvis which leads to surgical outcome. Patients and Methods: In this retrospective cohort study we followed 200 patients 1 to 60 days old with diagnosis of PNH based on before or after birth ultrasonography; as a prenatal or postnatal detected, respectively. These patients were referred to the nephrology clinic in Zahedan Iran during 2011 to 2013. The first step of investigation was a postnatal renal US, by the same expert radiologist and classifying the patients into 3 groups; normal, mild/moderate and severe. The second step was to perform voiding cystourethrogram (VCUG) for mild/moderate to severe cases at 4 - 6 weeks of life. Tc-diethylene triamine-pentaacetic acid (DTPA) was the last step and for those with normal VCUG who did not show improvement in follow-up examination, US to evaluate obstruction and renal function. Finally all patients with mild/moderate to severe PNH received conservative therapy and surgery was preserved only for progressive cases, obstruction or renal function ≤35%. All patients’ data and radiologic information was recorded in separate data forms, and then analyzed by SPSS (version 22). Results: 200 screened PNH patients with male to female ratio 3.5:1 underwent first postnatal control US, of whom 65% had normal, 18% mild

  4. Acute pancreatitis due to ascariasis: a sonographic pictorial essay on four cases.

    PubMed

    Lynser, Donboklang; Thangkhiew, R S; Laloo, Demitrost; Hek, M D; Marbaniang, Evarisalin; Tariang, Satisfy

    2016-06-01

    Ascariasis is the commonest helminthic disease to infect humans. Due to their wandering nature, the roundworms from the second part of the duodenum migrate through the biliary opening into the hepatobiliary and pancreatic ducts. Ascariasis is the most common parasitic cause of pancreatitis in endemic region. Pancreatitis can result due to pancreatic ascariasis, biliary ascariasis or both. Pancreatitis due to ascariasis can be severe and life-threatening. We present a pictorial essay of acute pancreatitis due to ascariasis on four cases.

  5. Assessing infant cognitive development after prenatal iodine supplementation.

    PubMed

    Bell, Martha Ann; Ross, Alleyne P; Goodman, Gay

    2016-09-01

    Little information is available on infant behavioral development outcomes of prenatal iodine supplementation in regions of mild to moderate iodine deficiency. Studies performed to date, all of which relied on global developmental assessments, have yielded inconsistent findings with regard to psychomotor development, negative findings with regard to mental development, and no information as to the development of specific cognitive functions. Our review of these studies leads us to suspect that the use of global developmental assessments might partially explain the negative and inconsistent findings. To identify cognitive processes that might be sensitive to prenatal iodine supplementation, we examined the timing of thyroid hormone action on specific brain systems. The development of infant visual attention is sensitive to thyroid hormone during the early prenatal period, when the fetus is entirely dependent on maternal thyroid hormone. For this reason, infant visual attention has the potential to be a sensitive measure of infant outcomes in prenatal iodine supplementation studies. We suggest the assessment of infant visual attention, with follow-up examination of childhood executive functions, as a means of capturing the effects of maternal iodine deficiency and prenatal iodine supplementation on specific cognitive processes. In particular, we propose comparison of infant performance on global developmental tests and specialized tests of visual attention in pilot trials of prenatal iodine supplementation in regions of mild to moderate iodine deficiency. Only by comparing the 2 types of tests side by side will it be possible to establish whether the use of a sensitive measure of infant visual attention will increase the reliability of such supplementation studies. Recognizing that exposure misclassification may also provide a partial explanation for the inconsistent neurodevelopmental outcomes in previous studies, we suggest that urinary iodine concentration or

  6. Assessing infant cognitive development after prenatal iodine supplementation.

    PubMed

    Bell, Martha Ann; Ross, Alleyne P; Goodman, Gay

    2016-09-01

    Little information is available on infant behavioral development outcomes of prenatal iodine supplementation in regions of mild to moderate iodine deficiency. Studies performed to date, all of which relied on global developmental assessments, have yielded inconsistent findings with regard to psychomotor development, negative findings with regard to mental development, and no information as to the development of specific cognitive functions. Our review of these studies leads us to suspect that the use of global developmental assessments might partially explain the negative and inconsistent findings. To identify cognitive processes that might be sensitive to prenatal iodine supplementation, we examined the timing of thyroid hormone action on specific brain systems. The development of infant visual attention is sensitive to thyroid hormone during the early prenatal period, when the fetus is entirely dependent on maternal thyroid hormone. For this reason, infant visual attention has the potential to be a sensitive measure of infant outcomes in prenatal iodine supplementation studies. We suggest the assessment of infant visual attention, with follow-up examination of childhood executive functions, as a means of capturing the effects of maternal iodine deficiency and prenatal iodine supplementation on specific cognitive processes. In particular, we propose comparison of infant performance on global developmental tests and specialized tests of visual attention in pilot trials of prenatal iodine supplementation in regions of mild to moderate iodine deficiency. Only by comparing the 2 types of tests side by side will it be possible to establish whether the use of a sensitive measure of infant visual attention will increase the reliability of such supplementation studies. Recognizing that exposure misclassification may also provide a partial explanation for the inconsistent neurodevelopmental outcomes in previous studies, we suggest that urinary iodine concentration or

  7. Prenatal Depression and Adverse Birth Outcomes: An Updated Systematic Review

    PubMed Central

    Accortt, Eynav Elgavish; Cheadle, Alyssa C. D.; Schetter, Christine Dunkel

    2015-01-01

    Complications related to preterm birth (PTB) and low birth weight (LBW) are leading causes of infant morbidity and mortality. Prenatal depression is a hypothesized psychosocial risk factor for both birth outcomes. The purpose of this systematic review was to examine evidence published between 1977 and 2013 on prenatal depression and risks of these primary adverse birth outcomes. A systematic search of the PUBMED and PsycINFO databases was conducted to identify studies testing the associations between prenatal depressive symptoms, or diagnoses of depression, and risk of PTB or LBW. We systematically selected 50 published reports on PTB and length of gestation, and 33 reports on LBW and BW. Results were reviewed by two independent reviewers and we evaluated the quality of the evidence with an established systematic review method, the Newcastle Ottawa Scale. We then undertook a narrative synthesis of the results following the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines. Less than a quarter of 50 published reports found that prenatal depression was significantly associated with PTB or gestational age. In contrast, slightly more than half of the 33 reports found that prenatal depression was associated with LBW or BW. When weighing methodological features, we determined that the effects of prenatal depression on LBW are more consistent than effects on length of gestation or PTB. Although the evidence may not be strong enough to support routine depression screening for risk of adverse outcomes, screening to enable detection and timely treatment to reduce risk of postpartum depression is warranted. Further rigorous research on prenatal depression and adverse birth outcomes is needed. PMID:25452215

  8. Maternal age–based prenatal screening for chromosomal disorders

    PubMed Central

    Carroll, June C.; Rideout, Andrea; Wilson, Brenda J.; Allanson, Judith; Blaine, Sean; Esplen, Mary Jane; Farrell, Sandra; Graham, Gail E.; MacKenzie, Jennifer; Meschino, Wendy S.; Prakash, Preeti; Shuman, Cheryl; Taylor, Sherry; Tobin, Stasey

    2013-01-01

    Objective To explore views of women and health care providers (HCPs) about the changing recommendations regarding maternal age–based prenatal screening. Design Mixed-methods design. Setting Ontario. Participants A sample of women who had given birth within the previous 2 years and who had attended a family medicine centre, midwifery practice, or baby and mother wellness program (n = 42); and a random sample of family physicians (n = 1600), and all Ontario obstetricians (n = 694) and midwives (n = 334) who provided prenatal care. Methods We used focus groups (FGs) to explore women's views. Content analysis was used to uncover themes and delineate meaning. To explore HCPs' views, we conducted a cross-sectional self-completion survey. Main findings All FG participants (42 women in 6 FGs) expressed the importance of individual choice of prenatal screening modality, regardless of age. They described their perception that society considers women older than 35 to be at high obstetric risk and raised concerns that change in the maternal age–related screening policy would require education. The HCP survey response rate was 40%. Results showed 24% of HCPs agreed that women of any age should be eligible for invasive diagnostic testing regardless of prenatal screening results; 15% agreed that the age for diagnostic testing should be increased to 40 years, 14% agreed that diagnostic testing should be reserved for women with positive prenatal screening results, and 45% agreed that prenatal screening should remain unchanged. Conclusion Maternity care organizations have recommended that maternal age–based prenatal screening is no longer appropriate. Informed choice is of paramount importance to women and should be part of any change. Health care providers need to be engaged in and educated about any change to screening guidelines to offer women informed choices. PMID:23341678

  9. Developmental Programming: Prenatal and Postnatal Androgen Antagonist and Insulin Sensitizer Interventions Prevent Advancement of Puberty and Improve LH Surge Dynamics in Prenatal Testosterone-Treated Sheep

    PubMed Central

    Veiga-Lopez, Almudena; Herkimer, Carol; Abi Salloum, Bachir; Moeller, Jacob; Beckett, Evan; Sreedharan, Rohit

    2015-01-01

    Prenatal T excess induces maternal hyperinsulinemia, early puberty, and reproductive/metabolic defects in the female similar to those seen in women with polycystic ovary syndrome. This study addressed the organizational/activational role of androgens and insulin in programming pubertal advancement and periovulatory LH surge defects. Treatment groups included the following: 1) control; 2) prenatal T; 3) prenatal T plus prenatal androgen antagonist, flutamide; 4) prenatal T plus prenatal insulin sensitizer, rosiglitazone; 5) prenatal T and postnatal flutamide; 6) prenatal T and postnatal rosiglitazone; and 7) prenatal T and postnatal metformin. Prenatal treatments spanned 30–90 days of gestation and postnatal treatments began at approximately 8 weeks of age and continued throughout. Blood samples were taken twice weekly, beginning at approximately 12 weeks of age to time puberty. Two-hour samples after the synchronization with prostaglandin F2α were taken for 120 hours to characterize LH surge dynamics at 7 and 19 months of age. Prenatal T females entered puberty earlier than controls, and all interventions prevented this advancement. Prenatal T reduced the percentage of animals having LH surge, and females that presented LH surge exhibited delayed timing and dampened amplitude of the LH surge. Prenatal androgen antagonist, but not other interventions, restored LH surges without normalizing the timing of the surge. Normalization of pubertal timing with prenatal/postnatal androgen antagonist and insulin sensitizer interventions suggests that pubertal advancement is programmed by androgenic actions of T involving insulin as a mediary. Restoration of LH surges by cotreatment with androgen antagonist supports androgenic programming at the organizational level. PMID:25919188

  10. Food, growth and time: Elsie Widdowson's and Robert McCance's research into prenatal and early postnatal growth.

    PubMed

    Buklijas, Tatjana

    2014-09-01

    Cambridge scientists Robert McCance and Elsie Widdowson are best known for their work on the British food tables and wartime food rations, but it is their research on prenatal and early postnatal growth that is today seen as a foundation of the fields studying the impact of environment upon prenatal development and, consequently, adult disease. In this essay I situate McCance's and Widdowson's 1940s human and 1950s experimental studies in the context of pre-war concerns with fetal growth and development, especially within biochemistry, physiology and agriculture; and the Second World War and post-war focus on the effects of undernutrition during pregnancy upon the fetus. I relate Widdowson's and McCance's research on the long-term effects of early undernutrition to the concern with recovery from early trauma so pertinent in post-war Europe and with sensitive (critical) periods, a concept of high importance across different fields. Finally I discuss how, following a hiatus in which fetal physiology engaged with different questions and stressed fetal autonomy, interest in the impact of environment upon prenatal growth and development revived towards the end of the twentieth century. The new field of "developmental origins of health and disease", I suggest, has provided a context in which Widdowson's and McCance's work has regained importance. PMID:24378592

  11. Prenatal and developmental toxicology of arsenicals.

    PubMed

    Willhite, C C; Ferm, V H

    1984-01-01

    A variety of species, including the human, have been shown to be susceptible to the embryotoxic effects of inorganic arsenic. Malformations of the axial skeleton, neurocranium, viscerocranium, eyes, and genitourinary systems as well as prenatal death followed a bolus dose of trivalent or pentavalent inorganic arsenic. Trivalent arsenic was more teratogenic than pentavalent arsenic; in contrast, the methylated metabolites of arsenic possessed only limited teratogenic activity. Administration of inorganic arsenic to mammals results in concentration of arsenic within the placenta and small amounts are deposited within the embryo. Studies concerning the pathogenesis of arsenic-induced axial skeletal lesions revealed early failure of neural fold elevation and a subsequent, persistent failure of closure of the neural tube. Physical factors, drugs and heavy metals may modify the response to a teratogenic dose of inorganic arsenic. Medical problems associated with industrial or agricultural arsenicalism are most often typified by chronic exposure; future studies should emphasize those routes of administration and types of exposure that are characteristic of arsenic intoxication.

  12. Aneuploidy among prenatally detected neural tube defects

    SciTech Connect

    Hume, R.F. Jr.; Lampinen, J.; Martin, L.S.; Johnson, M.P.; Evans, M.I.

    1996-01-11

    We have reported previously a 10% aneuploidy detection rate among 39 cases of fetal neural tube defects (NTD). Subsequently we amassed an additional experience of over 17,000 prenatal diagnosis cases over a 5-year period. During this period 106 cases of NTDs were identified; 44 with anencephaly, 62 with open spina bifida. The average maternal age of this population with NTDs was 29 years (15-40); 6 patients declined amniocentesis. Six of 100 cytogenetic studies were aneuploid; on anencephalic fetus had inherited a maternal marker chromosome, and 5 NTD cases had trisomy 18. The average maternal age of the aneuploid cases was 21 (19-40); 3 were 35 years or older. Four of 5 trisomy 18 cases had multiple congenital anomalies (MCA). The overall aneuploidy detection rate in our cohort was 5-6, while aneuploidy occurred in 2% of the isolated NTD cases, and 24% of the MCA cases. Combining the earlier experience, 4/39 aneuploidy (2 trisomy 18, 4p+, del 13q) yields an aneuploidy detection frequency of 10/145 (7%), of which most (7/10) had trisomy 18. These data support fetal karyotyping for accurate diagnosis, prognosis, and recurrence-risk counseling. 5 refs., 2 tabs.

  13. Effects of prenatal exposure to ionizing radiation

    SciTech Connect

    Miller, R.W. )

    1990-07-01

    Prenatal exposure to ionizing radiation induces some effects that are seen at birth and others that cannot be detected until later in life. Data from A-bomb survivors in Hiroshima and Nagasaki show a diminished number of births after exposure under 4 wk of gestational age. Although a wide array of congenital malformations has been found in animal experimentation after such exposure to x rays, in humans only small head size (exposure at 4-17 wk) and mental retardation (exposure primarily at 8-15 wk) have been observed. In Hiroshima, small head size occurred after doses of 0.10-0.19 Gy or more, and an excess of mental retardation at 0.2-0.4 Gy or more. Intelligence test scores were reduced among A-bomb survivors exposed at 8-15 wk of gestational age by 21-29 IQ points per Gy. Other effects of in-utero exposure to atomic radiation include long-lasting complex chromosome abnormalities.

  14. Prenatal presentation of pyruvate dehydrogenase complex deficiency.

    PubMed

    Natarajan, Niranjana; Tully, Hannah M; Chapman, Teresa

    2016-08-01

    We present the case of a female infant referred for prenatal MR evaluation of ventriculomegaly, which had been attributed by the referring obstetrician to aqueductal stenosis. Fetal MR confirmed ventriculomegaly but also demonstrated cerebral volume loss and white matter abnormalities. After birth, the infant developed persistent lactic acidosis. A diagnosis of pyruvate dehydrogenase complex deficiency was made on the basis of metabolic and molecular genetic studies. Ventriculomegaly is a common referral reason for fetal MR, yet there are few published reports of the radiographic findings that accompany inborn errors of metabolism, one potentially under-recognized cause of enlarged ventricles. This case contributes to this small body of literature on the imaging features of pyruvate dehydrogenase complex deficiency by describing pre- and postnatal MR findings and key clinical details. Our report emphasizes the necessity of considering pyruvate dehydrogenase complex deficiency and other metabolic disorders as potential etiologies for fetal ventriculomegaly since prompt diagnosis may allow for early initiation of treatment and improve outcome. PMID:27026023

  15. Prenatal Chemical Exposures and Child Language Development

    PubMed Central

    Dzwilewski, Kelsey LC; Schantz, Susan L

    2015-01-01

    The goal of this review is to summarize the evidence that prenatal and/or early postnatal exposure to certain chemicals, both man made (insulating materials, flame retardants, pesticides) and naturally occurring (e.g. lead, mercury), may be associated with delays or impairments in language development. We focus primarily on a subset of more extensively studied chemicals—polychlorinated biphenyls (PCBs), lead, and methyl mercury—for which a reasonable body of literature on neurodevelopmental outcomes is available. We also briefly summarize the smaller body of evidence for other chemicals including polybrominated diphenyl ether flame retardants (PBDEs) and organophosphate pesticides. Very few studies have used specific assessments of language development and function. Therefore, we included discussion of aspects of cognitive development such as overall intellectual functioning and verbal abilities that rely on language, as well as aspects of cognition such as verbal and auditory working memory that are critical underpinnings of language development. A high percentage of prospective birth cohort studies of PCBs, lead and mercury have reported exposure-related reductions in overall IQ and/or verbal IQ that persist into middle or late childhood. Given these findings, it is important that clinicians and researchers in communication sciences and disorders are aware of the potential for environmental chemicals to impact language development. PMID:26255253

  16. Transcriptional Landscape of the Prenatal Human Brain

    PubMed Central

    Miller, Jeremy A.; Ding, Song-Lin; Sunkin, Susan M.; Smith, Kimberly A; Ng, Lydia; Szafer, Aaron; Ebbert, Amanda; Riley, Zackery L.; Aiona, Kaylynn; Arnold, James M.; Bennet, Crissa; Bertagnolli, Darren; Brouner, Krissy; Butler, Stephanie; Caldejon, Shiella; Carey, Anita; Cuhaciyan, Christine; Dalley, Rachel A.; Dee, Nick; Dolbeare, Tim A.; Facer, Benjamin A. C.; Feng, David; Fliss, Tim P.; Gee, Garrett; Goldy, Jeff; Gourley, Lindsey; Gregor, Benjamin W.; Gu, Guangyu; Howard, Robert E.; Jochim, Jayson M.; Kuan, Chihchau L.; Lau, Christopher; Lee, Chang-Kyu; Lee, Felix; Lemon, Tracy A.; Lesnar, Phil; McMurray, Bergen; Mastan, Naveed; Mosqueda, Nerick F.; Naluai-Cecchini, Theresa; Ngo, Nhan-Kiet; Nyhus, Julie; Oldre, Aaron; Olson, Eric; Parente, Jody; Parker, Patrick D.; Parry, Sheana E.; Player, Allison Stevens; Pletikos, Mihovil; Reding, Melissa; Royall, Joshua J.; Roll, Kate; Sandman, David; Sarreal, Melaine; Shapouri, Sheila; Shapovalova, Nadiya V.; Shen, Elaine H.; Sjoquist, Nathan; Slaughterbeck, Clifford R.; Smith, Michael; Sodt, Andy J.; Williams, Derric; Zöllei, Lilla; Fischl, Bruce; Gerstein, Mark B.; Geschwind, Daniel H.; Glass, Ian A.; Hawrylycz, Michael J.; Hevner, Robert F.; Huang, Hao; Jones, Allan R.; Knowles, James A.; Levitt, Pat; Phillips, John W.; Sestan, Nenad; Wohnoutka, Paul; Dang, Chinh; Bernard, Amy; Hohmann, John G.; Lein, Ed S.

    2014-01-01

    Summary The anatomical and functional architecture of the human brain is largely determined by prenatal transcriptional processes. We describe an anatomically comprehensive atlas of mid-gestational human brain, including de novo reference atlases, in situ hybridization, ultra-high resolution magnetic resonance imaging (MRI) and microarray analysis on highly discrete laser microdissected brain regions. In developing cerebral cortex, transcriptional differences are found between different proliferative and postmitotic layers, wherein laminar signatures reflect cellular composition and developmental processes. Cytoarchitectural differences between human and mouse have molecular correlates, including species differences in gene expression in subplate, although surprisingly we find minimal differences between the inner and human-expanded outer subventricular zones. Both germinal and postmitotic cortical layers exhibit fronto-temporal gradients, with particular enrichment in frontal lobe. Finally, many neurodevelopmental disorder and human evolution-related genes show patterned expression, potentially underlying unique features of human cortical formation. These data provide a rich, freely-accessible resource for understanding human brain development. PMID:24695229

  17. Behavioral and neurochemical effects of prenatal halothane

    PubMed Central

    Bowman, Robert E.; Smith, Robert F.

    1977-01-01

    Permanent neurobehavioral toxicological effects have been theorized to occur at the lowest doses of a toxic agent if exposure occurs during early development compared to exposure during adulthood. Data are reviewed showing the exposure to 10 ppm of halothane from conception to day 60 of life post-partum led to adult rats (≥ 135 days of age) which were hyperalgesic to electric footshock and which committed 30% more errors learning a light-dark discrimination to escape footshock, or learning the shortest path to a food reward in a maze. Exposure only during adulthood to 10 ppm of halothane (from day 60 of life onwards) had no effects. To determine prenatal periods sensitive to halothane, rats were exposed to 12,500 ppm of halothane (with 35% oxygen) on day 3, 10, or 17 of gestation. As adults (≥ 75 days of age) day 3- and day 10-exposed rats, but not day 17-exposed rats, were hyperalgesic and committed 40% more errors in learning a visual discrimination to escape footshock. Food and water consumption, body weight, and running wheel activity were unaffected. Finally, adult rats exposed to 10, 50, or 100 ppm of halothane from conception to day 28 postpartum had 15% less 5-hydroxyindoleacetic acid in brain, but normal 5-hydroxytryptophan, noradrenalin, and dopamine. The possibility is discussed that the hyperalgesia noted above results from a permanently reduced turnover of brain serotonin produced by halothane present in brain at days 10-15 of gestation. PMID:612445

  18. [Radiation effects of exposure during prenatal development].

    PubMed

    Streffer, C

    1995-03-01

    The embryo and fetus are very radiosensitive during the total prenatal development period. The quality and extent of radiation effects depend strongly on the developmental stage at which the exposure occurs. During the preimplantation period radiation exposure can cause death of the embryo after radiation doses of 0.2 Gy and higher. Malformations are only observed in very rare cases when genetic predispositions exist. Macroscopic-anatomical malformations are induced only after irradiation during the major organogenesis. On the basis of experimental data with mammals it is assumed that a radiation dose of about 0.2 Gy doubles the malformation risk. Studies in humans give rise to the assumption that the human embryo is more radioresistant than the embryos of mice and rats. Radiation exposure during the major organogenesis and the early fetal period lead to disturbances in the growth and developmental processes. During early fetogenesis (week 8-15 post corruption) high radiosensitivity exists for the development of the central nervous system. Radiation doses of 1 Gy cause severe mental retardation in about 50% of exposed fetuses. Analysis of the dose-effect curves shows that there is probably a dose-effect curve with a threshold for this effect. It must be taken into account that radiation exposure during the fetal period also induces cancer. The studies, however, do not allow quantitative estimate of this radiation risk at present. It is therefore generally assumed that the risk is about the same level as for children.

  19. Oregon's Coordinated Care Organizations Increased Timely Prenatal Care Initiation And Decreased Disparities.

    PubMed

    Muoto, Ifeoma; Luck, Jeff; Yoon, Jangho; Bernell, Stephanie; Snowden, Jonathan M

    2016-09-01

    Policies at the state and federal levels affect access to health services, including prenatal care. In 2012 the State of Oregon implemented a major reform of its Medicaid program. The new model, called a coordinated care organization (CCO), is designed to improve the coordination of care for Medicaid beneficiaries. This reform effort provides an ideal opportunity to evaluate the impact of broad financing and delivery reforms on prenatal care use. Using birth certificate data from Oregon and Washington State, we evaluated the effect of CCO implementation on the probability of early prenatal care initiation, prenatal care adequacy, and disparities in prenatal care use by type of insurance. Following CCO implementation, we found significant increases in early prenatal care initiation and a reduction in disparities across insurance types but no difference in overall prenatal care adequacy. Oregon's reforms could serve as a model for other Medicaid and commercial health plans seeking to improve prenatal care quality and reduce disparities. PMID:27605642

  20. Routine Prenatal Care Visits by Provider Specialty in the United States, 2009-2010

    MedlinePlus

    ... of prenatal visits to non-ob/gyn providers did not differ by race and ethnicity group in ... Generally, women of different race and ethnicity groups did not differ in the percentage of prenatal care ...

  1. A prenatal case with discrepant findings between non-invasive prenatal testing and fetal genetic testings.

    PubMed

    Pan, Qiong; Sun, Baojuan; Huang, Xiaoli; Jing, Xin; Liu, Hailiang; Jiang, Fuman; Zhou, Jie; Lin, Mengmeng; Yue, Hongni; Hu, Ping; Ning, Ying

    2014-01-01

    At 17(+4) week, non-invasive prenatal testing (NIPT) results of a 24-years-old mother showed high risk of monosomy X (45, X). Abnormally shaped head and cardiac defects were observed in prenatal ultrasound scan at 19(+3) week. Amniocentesis conducted at 19(+3) week identified karyotype 47, XX, +18, which suggested that the NIPT failed to detect trisomy 18 (T18) in this case. With a further massively parallel sequencing (MPS) of maternal blood, fetal and placental tissues, we found a confined placental mosaicism (CPM) with non-mosaic T18 fetus and multiclonal placenta with high prevalence of 45, X and low level of T18 cells. FISH and SNP-array evidence from the placental tissue confirmed genetic discrepancy between the fetus and placenta. Because the primary source of the fetal cell-free DNA that NIPT assesses is mostly originated from trophoblast cells, the level of T18 placental mosaicism may cause false negative NIPT result in this rare case of double aneuploidy.

  2. Practice Bulletin No. 162: Prenatal Diagnostic Testing for Genetic Disorders.

    PubMed

    2016-05-01

    Prenatal genetic diagnostic testing is intended to determine, with as much certainty as possible, whether a specific genetic disorder or condition is present in the fetus. In contrast, prenatal genetic screening is designed to assess whether a patient is at increased risk of having a fetus affected by a genetic disorder. Originally, prenatal genetic testing focused primarily on Down syndrome (trisomy 21), but now it is able to detect a broad range of genetic disorders. Although it is necessary to perform amniocentesis or chorionic villus sampling (CVS) to definitively diagnose most genetic disorders, in some circumstances, fetal imaging with ultrasonography, echocardiography, or magnetic resonance imaging may be diagnostic of a particular structural fetal abnormality that is suggestive of an underlying genetic condition.The objective of prenatal genetic testing is to detect health problems that could affect the woman, fetus, or newborn and provide the patient and her obstetrician-gynecologist or other obstetric care provider with enough information to allow a fully informed decision about pregnancy management. Prenatal genetic testing cannot identify all abnormalities or problems in a fetus, and any testing should be focused on the individual patient's risks, reproductive goals, and preferences. It is important that patients understand the benefits and limitations of all prenatal screening and diagnostic testing, including the conditions for which tests are available and the conditions that will not be detected by testing. It also is important that patients realize that there is a broad range of clinical presentations, or phenotypes, for many genetic disorders and that results of genetic testing cannot predict all outcomes. Prenatal genetic testing has many benefits, including reassuring patients when results are normal, identifying disorders for which prenatal treatment may provide benefit, optimizing neonatal outcomes by ensuring the appropriate location for

  3. Prenatal substance use in a Western urban community.

    PubMed Central

    Buchi, K F; Varner, M W

    1994-01-01

    To assess the extent of prenatal substance use in a predominantly white population in an urban area of the western United States and to develop a risk profile for this population, a cross-sectional prevalence study was done. Prenatal clinics (10 public and 10 private) anonymously recorded demographic information about and collected aliquots of routinely obtained urine specimens from women during prenatal visits. Urine specimens were screened by enzyme immunoassay for amphetamines, marijuana, cocaine, opiates, and ethanol. Of the 935 women screened, 92 (9.8%) had urine specimens positive for one or more of these substances. Urine screens were positive in 56 (10.0%) of 562 women attending private clinics and 36 (9.6%) of 373 women attending public clinics. Only 7 of the 935 women (0.7%) had screens positive for cocaine. Ethanol was the most frequently detected substance in the private clinic group (6.4%), whereas marijuana was most common among women attending public clinics (5.1%). Although substance use in this group of pregnant women occurs at a lower rate and a different pattern from those found in other more densely populated areas, the rate is high enough to be of concern to all prenatal care professionals, who should incorporate substance use history taking and selective urine drug screening into their routine prenatal practices. PMID:7810126

  4. Postnatal outcomes of prenatally diagnosed 45,X/46,XX.

    PubMed

    Tokita, Mari J; Sybert, Virginia P

    2016-05-01

    High quality information is critical for informed decision-making in pregnancy following a prenatal diagnosis of sex chromosome aneuploidy. The goal of this study was to define the spectrum of outcomes in patients with prenatally diagnosed 45,X/46,XX mosaic Turner syndrome in order to provide a better basis for genetic counseling at the time of intrauterine diagnosis. Phenotype data for twenty-five patients with prenatally diagnosed 45,X/46,XX mosaicism were collected by retrospective chart review and, when possible, semi-structured telephone interview. Existing data from a cohort of 58 patients with postnatally diagnosed 45,X/46,XX mosaicism were used for comparison. Relative to those diagnosed postnatally, prenatal patients were more likely to have normal growth and normal secondary sexual development, less likely to manifest distinctive Turner syndrome features such as nuchal webbing and edema, and had significantly fewer renal defects. These differences underscore the need for a nuanced approach to prenatal counseling in cases of 45,X/46,XX mosaicism.

  5. Structural chromosomal anomalies detected by prenatal genetic diagnosis: our experience.

    PubMed

    Farcaş, Simona; Crişan, C D; Andreescu, Nicoleta; Stoian, Monica; Motoc, A G M

    2013-01-01

    The prenatal diagnosis is currently widely spread and facilitates the acquiring of important genetic information about the fetus by a rate extremely accelerate and considered without precedent. In this paper, we like to present our experience concerning the genetic diagnosis and counseling offered for pregnancies in which a structural chromosomal aberration was found. The study group is formed by 528 prenatal samples of amniotic fluid and chorionic villi, received by our laboratory from 2006 through October 2012 for cytogenetic diagnosis. The appropriate genetic investigation was selected based on the indications for prenatal diagnosis. The cases with structural chromosomal anomalies and polymorphic variants were analyzed as regard to the maternal age, gestational age, referral indications and type of chromosomal anomaly found. A total number of 21 structural chromosomal anomalies and polymorphic variants were identified in the study group. Out of 21 structural chromosomal anomalies and polymorphic variants, six deletions and microdeletions, four situations with abnormal long "p" arm of acrocentric chromosomes, two duplications, two reciprocal translocations, two inversions, two additions, one Robertsonian translocation associating trisomy 13, one 9q heteromorphism and one complex chromosome rearrangement were noticed. To the best of our knowledge, this is the first Romanian study in which the diagnostic strategies and the management of the prenatal cases with structural rearrangements are presented. The data provided about the diagnosis strategy and the management of the prenatal cases with structural chromosomal anomalies represents a useful tool in genetic counseling of pregnancies diagnosed with rare structural chromosomal anomalies. PMID:23771085

  6. Melatonin influences sex-specific prenatal mortality in meadow voles.

    PubMed

    Gorman, M R; Ferkin, M H; Dark, J

    1994-11-01

    Meadow voles exhibit seasonal changes in litter size, ovulation rates, and prenatal mortality. To investigate the proximate bases of seasonal changes in reproductive effort, adult female voles, maintained in long photoperiods (14 h of light/day), were injected daily with 10 micrograms melatonin 2 h before light offset to extend the duration of the nighttime melatonin pulse. At parturition the number, sex, and weight of offspring were assessed. The number of ovarian corpora lutea (CL), an index of potential litter size, was used to calculate rates of prenatal survival (i.e., pups per CL). Prenatal survival rates were reduced in female but not male pups of dams that had been injected before blastocyst implantation (Days 1-6 of pregnancy) with melatonin as compared with saline. Melatonin injections initiated after blastocyst implantation (Days 7-21 of pregnancy) did not affect prenatal survival, nor were birth weights of pups affected by either pre- or postimplantation melatonin treatment. We conclude that sex-specific prenatal survival is a labile feature of vole reproduction that may be under proximate control of photoperiod and melatonin before blastocyst implantation. PMID:7849189

  7. Significance of Sonographically Demonstrated Ureteral Dilatation in Evaluation of Vesicoureteral Reflux Verified with Voiding Urosonography in Children with Urinary Tract Infection

    PubMed Central

    Carovac, Aladin; Zubovic, Sandra Vegar; Carovac, Marklena; Pasic, Irmina Sefic

    2015-01-01

    Objectives: The aim of this study was to determine sensitivity, specificity, and predictive values of sonographically demonstrated ureteral dilatation in detecting vesicoureteral reflux (VUR). Methods: Ethical approval from the Ethical Committee of Clinical Center University of Sarajevo and parental consent were obtained for this prospective study involving 120 children with history of urinary tract infections (UTIs). Ultrasound examination included the evaluation of the urinary tract, with a special emphasis on evaluation of ureteral dilatation. Voiding urosonography (VUS) was carried out according to a standard protocol with the use of ultrasound contrast agent Sono Vue of second generation. Ureteral diameter greater than 3 mm was considered pathological. Proven VUR was graded into one of three stages. Results: Infectio tracti urinarii recidivans was referral diagnosis in the majority of patients. The average age of patients was 4.33 ± 3.88 years (from 2 months to 16 years of age). VUS findings were normal in 59 (49.2%), and pathological in 61 (50.8%) patients. Statistical analysis showed significant correlation between type and grade of VUR. Our data confirmed predominance of VUR in females and in children under the age of 5. Statistically significant correlation between ureteral dilatation and the existence of VUR was found, with relatively high sensitivity (67.2%), specificity (81.4%), and high positive (78.8%) and negative predictive value (70.6%), total diagnostic accuracy of 74.2% in detecting VUR, and significantly increased probability (20 – 25%) of detecting VUR in patients with sonographically confirmed ureteral dilatation. Conclusion: Sonographically confirmed ureteral dilatation can be used as a predictor of VUR in children with UTIs, and in combination with other predictors, might find a place in an evidence-based selective strategy in children with suspected VUR. PMID:26635432

  8. Ultrasound-Guided Small Vessel Cannulation: Long-Axis Approach Is Equivalent to Short-Axis in Novice Sonographers Experienced with Landmark-Based Cannulation

    PubMed Central

    Erickson, Catherine S.; Liao, Michael M.; Haukoos, Jason S.; Douglass, Erica; DiGeronimo, Margaret; Christensen, Eric; Hopkins, Emily; Bender, Brooke; Kendall, John L.

    2014-01-01

    Introduction Our primary objective was to describe the time to vessel penetration and difficulty of long-axis and short-axis approaches for ultrasound-guided small vessel penetration in novice sonographers experienced with landmark-based small vessel penetration. Methods This was a prospective, observational study of experienced certified emergency nurses attempting ultrasound-guided small vessel cannulation on a vascular access phantom. We conducted a standardized training, practice, and experiment session for each participant. Five long-axis and five short-axis approaches were attempted in alternating sequence. The primary outcome was time to vessel penetration. Secondary outcomes were number of skin penetrations and number of catheter redirections. We compared long-axis and short-axis approaches using multivariable regression adjusting for repeated measures, vessel depth, and vessel caliber. Results Each of 10 novice sonographers made 10 attempts for a total of 100 attempts. Median time to vessel penetration in the long-axis and short-axis was 11 (95% confidence interval [CI] 7–12) and 10 (95% CI 6–13) seconds, respectively. Skin penetrations and catheter redirections were equivalent and near optimal between approaches. The median caliber of cannulated vessels in the long-axis and short-axis was 4.6 (95% CI 4.1–5.5) and 5.6 (95% CI 5.1–6.2) millimeters, respectively. Both axes had equal success rates of 100% for all 50 attempts. In multivariable regression analysis, long-axis attempts were 32% (95% CI 11%–48%; p=0.009) faster than short-axis attempts. Conclusion Novice sonographers, highly proficient with peripheral IV cannulation, can perform after instruction ultrasound-guided small vessel penetration successfully with similar time to vessel penetration in either the long-axis or short-axis approach on phantom models. PMID:25493126

  9. Prenatal interaction of mutant DISC1 and immune activation produces adult psychopathology

    PubMed Central

    Abazyan, B.; Nomura, J.; Kannan, G.; Ishizuka, K.; Tamashiro, K. L. K.; Nucifora, F.; Pogorelov, V.; Ladenheim, B.; Yang, C.; Krasnova, I. N.; Cadet, J. L.; Pardo, C.; Mori, S.; Kamiya, A.; Vogel, M.; Sawa, A.; Ross, C. A.; Pletnikov, M. V.

    2010-01-01

    Background Gene-environment interactions (GEI) are involved in the pathogenesis of mental diseases. We evaluated interaction between mutant human Disrupted-In-Schizophrenia-1 (mhDISC1) and maternal immune activation implicated in schizophrenia and mood disorders. Methods Pregnant mice were treated with saline or polyinosinic:polycytidylic acid (Poly I:C) at gestation day 9. Levels of inflammatory cytokines were measured in fetal and adult brains, expression of mhDISC1, endogenous DISC1, LIS1, NDEL1, gp130, Grb2, and GSK-3β were assessed in cortical samples of newborn mice. Tissue content of monoamines, volumetric brain abnormalities, dendritic spine density in the hippocampus and various domains of the mouse behavior repertoire were evaluated in adult male mice. Results Prenatal interaction produced anxiety, depression-like responses, and altered pattern of social behavior. These behaviors were accompanied by decreased reactivity of the HPA axis, attenuated 5-HT neurotransmission in the hippocampus, reduced enlargement of lateral ventricles, decreased volumes of amygdala and periaqueductal gray matter and density of spines on dendrites of granule cells of the hippocampus. Prenatal interaction modulated secretion of inflammatory cytokines in fetal brains, levels of mhDISC1, endogenous mouse DISC1, and GSK-3β. The behavioral effects of GEI were observed only if mhDISC1 was expressed throughout the life span. Conclusions Prenatal immune activation interacted with mhDISC1 to produce the neurobehavioral phenotypes that were not seen in untreated mhDISC1 mice and that resemble aspects of major mental illnesses, including mood disorders. We propose that our DISC1 mouse model is a valuable system to study the molecular pathways underlying GEI relevant to mental illnesses. PMID:21130225

  10. Prenatal diagnosis of leukocyte adhesion deficiency type-1 (five cases from iran with two new mutations).

    PubMed

    Esmaeili, Behnaz; Ghadami, Mohsen; Fazlollahi, Mohammad Reza; Niroomanesh, Shirin; Atarod, Lida; Chavoshzadeh, Zahra; Moradi, Zeinab; Alizadeh, Zahra; Pourpak, Zahra

    2014-02-01

    Leukocyte adhesion deficiency type-1(LAD-1) is one of the immunodeficiency autosomal recessive diseases that results from mutation in integrin, beta 2 (complement component 3 receptor 3 and 4 subunit) ITGB2 gene. The aim of this study was to investigate molecular prenatal diagnosis of LAD-1. Four pregnant women with five fetuses (one pregnancy was twin) with clinical and laboratory diagnosis of LAD-1 in their previous children were studied. The chorionic villus sampling (CVS) was obtained when mothers were in 10-12th weeks of gestation. Mutation analysis of ITGB2 gene for affected children revealed 3 misssense mutations (c.382G>A, a novel mutation, c.2146G>C, and c.715G>A) and one splice site novel mutation (c.1877+2G>A). All of Parents were heterozygous for these mutations. Consideration of affected gene regions for five CVS samples showed two homozygotes and one heterozygote for mutant allele and two homozygotes for normal allele. Interestingly, one of the twin fetuses was affected and another was normal. Briefly, two cases of CVS samples were affected and three cases of remained CVS samples were unaffected.This is the first report of prenatal diagnosis of LAD-1 from Iran with two new mutations that can be used for genetic and prenatal diagnosis for all patients suspected to LAD1 and can be helpful to prevent the birth of affected children with LAD-1. This abstract presented in the second international congress of Immunology, Asthma and Allergy, Tehran, Iran 2013.

  11. Epigenetic effects of prenatal estradiol-17β exposure on the reproductive system of pigs.

    PubMed

    Kradolfer, David; Flöter, Veronika L; Bick, Jochen T; Fürst, Rainer W; Rode, Kristina; Brehm, Ralph; Henning, Heiko; Waberski, Dagmar; Bauersachs, Stefan; Ulbrich, Susanne E

    2016-07-15

    There is growing evidence that early life exposure to endocrine disrupting chemicals might increase the risk for certain adult onset diseases, in particular reproductive health problems and hormone dependent cancers. Studies in rodents suggest that perinatal exposure to even low doses of estrogenic substances can cause adverse effects, including epigenetic reprogramming of the prostate and increased formation of precancerous lesions. We analyzed the effects of an in utero exposure to the strongest natural estrogen, estradiol-17β, in a pig model. Two different low and one high dose of estradiol-17β (0.05, 10 and 1000 μg/kg body weight/day) were orally applied to gilts during pregnancy and potential effects on the reproductive system of the offspring were analyzed. No significant effects on sperm vitality parameters and testes size were observed in adult boars. However, prenatal exposure to the high dose decreased absolute, but not relative weight of the testes in prepubertal piglets. RNA sequencing revealed significantly regulated genes of the prepubertal prostate, while testes and uteri were not affected. Notably, we found an increased prostate expression of CCDC80 and a decreased ADH1C expression in the low dose treatment groups. BGN and SPARC, two genes associated with prostate tumor progression, were as well more abundant in exposed animals. Strikingly, the gene body DNA methylation level of BGN was accordingly increased in the high dose group. Thus, while only prenatal exposure to a high dose of estrogen altered testes development and local DNA methylation of the prostate, even low dose exposure had significant effects on gene expression in the prostate of prepubertal piglet offspring. The relevance of these distinct, but subtle transcriptional changes following low dose treatment lacking a clear phenotype calls for further long-term investigations. An epigenetic reprogramming of the pig prostate due to prenatal estrogen cannot be neglected. PMID:27062901

  12. Longitudinal analyses of prenatal and postnatal lead exposure and early cognitive development

    SciTech Connect

    Bellinger, D.; Leviton, A.; Waternaux, C.; Needleman, H.; Rabinowitz, M.

    1987-04-23

    In a prospective cohort study of 249 children from birth to two years of age, we assessed the relation between prenatal and postnatal lead exposure and early cognitive development. On the basis of lead levels in umbilical-cord blood, children were assigned to one of three prenatal-exposure groups: low (less than 3 micrograms per deciliter), medium (6 to 7 micrograms per deciliter), or high (greater than or equal to 10 micrograms per deciliter). Development was assessed semiannually, beginning at the age of six months, with use of the Mental Development Index of the Bayley Scales of Infant Development (mean +/- SD, 100 +/- 16). Capillary-blood samples obtained at the same times provided measures of postnatal lead exposure. Regression methods for longitudinal data were used to evaluate the association between infants' lead levels and their development scores after adjustment for potential confounders. At all ages, infants in the high-prenatal-exposure group scored lower than infants in the other two groups. The estimated difference between the overall performance of the low-exposure and high-exposure groups was 4.8 points (95 percent confidence interval, 2.3 to 7.3). Between the medium- and high-exposure groups, the estimated difference was 3.8 points (95 percent confidence interval, 1.3 to 6.3). Scores were not related to infants' postnatal blood lead levels. It appears that the fetus may be adversely affected at blood lead concentrations well below 25 micrograms per deciliter, the level currently defined by the Centers for Disease Control as the highest acceptable level for young children.

  13. Strain Dependent Effects of Prenatal Stress on Gene Expression in the Rat Hippocampus

    PubMed Central

    Neeley, Eric W.; Berger, Ralph; Koenig, James I.; Leonard, Sherry

    2011-01-01

    Multiple animal models have been developed to recapitulate phenotypes of the human disease, schizophrenia. A model that simulates many of the cognitive and sensory deficits of the disorder is the use of random variable prenatal stress (PS) in the rat. These deficits suggest a molecular origin in the hippocampus, a brain region that plays a role in the regulation of stress. To study both hippocampal gene expression changes in offspring of prenatally stressed dams and to address genetic variability, we used a random array of prenatal stressors in three different rat strains with diverse responses to stress: Fischer, Sprague-Dawley, and Lewis rats. Candidate genes involved in stress, schizophrenia, cognition, neurotrophic effects, and immunity were selected for assessment by real-time quantitative PCR under resting conditions and following a brief exposure to restraint stress. PS resulted in significant differences in gene expression in the offspring that were strain dependent. mRNA expression for the N-methyl D-aspartate receptor subtype 2B (Grin2b) was increased, and tumor necrosis factor-alpha (Tnfα) transcript was decreased in PS Sprague-Dawley and Lewis rats, but not in the Fischer rats. Expression of brain-derived neurotrophic factor (Bdnf) mRNA in the hippocampus was increased after an acute stress in all controls of each strain, yet a decrease was seen after acute stress in the PS Sprague-Dawley and Lewis rats. Expression of the glucocorticoid receptor (Nr3c1) was decreased in the Fischer strain when compared to Lewis or Sprague-Dawley rats, though the Fischer rats had markedly higher α7 nicotinic receptor (Chrna7) expression. The expression differences seen in these animals may be important elements of the phenotypic differences seen due to PS and genetic background. PMID:21382392

  14. Maternal Prenatal Weight Gain and Autism Spectrum Disorders

    PubMed Central

    Bakian, Amanda V.; Viskochil, Joseph; Clark, Erin A.S.; Botts, Elizabeth L.; Smith, Ken R.; Pimentel, Richard; McMahon, William M.; Coon, Hilary

    2013-01-01

    BACKGROUND: The rising population of individuals identified with an autism spectrum disorder (ASD) calls for further investigation of its underlying etiology. A disturbance in the fetal steroid hormone environment may be a mechanism in which environmental and genetic risk factors interact. The mother, fetus, and placenta collectively create the fetal steroid environment. Prepregnancy BMI and pregnancy weight gain have served as markers for fetal steroid hormone exposure in other disease states. This study’s objective is to determine whether prepregnancy BMI and pregnancy weight gain are associated with increased ASD risk across study designs and cohorts while controlling for important confounding variables. METHODS: A population-based Utah ASD cohort (n = 128) was ascertained in a 3-county surveillance area and gender- and age-matched to 10 920 control subjects. A second, research-based ASD cohort of Utah children (n = 288) and their unaffected siblings (n = 493) were ascertained through participation in an ASD genetics study. Prenatal variables were obtained from birth certificate records. RESULTS: ASD risk was significantly associated with pregnancy weight gain (adjusted odds ratio = 1.10, 95% confidence interval: 1.03 to 1.17; adjusted odds ratio = 1.17, 95% confidence interval: 1.01 to 1.35 for each 5 pounds of weight gained), but not prepregnancy BMI, in population and research-based cohorts, respectively. When analyses were restricted to ASD cases with normal IQ, these associations remained significant. CONCLUSIONS: ASD risk associated with a modest yet consistent increase in pregnancy weight gain suggests that pregnancy weight gain may serve as an important marker for autism’s underlying gestational etiology. This justifies an investigation into phenomena that link pregnancy weight gain and ASD independent of prepregnancy BMI. PMID:24167172

  15. Large retroperitoneal schwannoma mimicking a cystic ovarian mass in a patient with Hansen's disease.

    PubMed

    Surendrababu, Narayanam R S; Cherian, Sucy Rekha; Janakiraman, Rajinikanth; Walter, Noel

    2008-06-01

    We present a rare case of retroperitoneal cystic schwannoma of the pelvis in a patient with Hansen's disease that mimicked an ovarian cyst. Due to economic constraints and because the lesion was assumed to be of ovarian origin, the patient did not undergo any cross-sectional imaging other than sonography. Sonographically guided fine needle aspiration of the cystic lesion was inconclusive. A cystic schwannoma was diagnosed at laparotomy.

  16. Effect of xylazine, isoxsuprine, and lidocaine on Doppler sonographic uterine and umbilical blood flow measurements in cows during the last month of pregnancy.

    PubMed

    Waldvogel, D; Bleul, U

    2014-04-15

    The maternal portion of the bovine placenta receives blood mainly from the uterine arteries (AUT) and the fetal portion from the umbilical arteries (AUM). Placental perfusion is crucial for fetal development and undergoes adaptive changes during pregnancy according to the fetal requirements. One goal of this study was to investigate changes in Doppler sonographic measurements of blood vessels that supply blood to the placenta in cows during the last 4 weeks of pregnancy. Another goal was to examine how these measurements are affected by three drugs commonly used in cows at the time of parturition. Nine cows underwent Doppler sonographic examination of the AUT ipsilateral and contralateral to the pregnant horn and one AUM three times per week during the last 4 weeks of gestation. This was followed by the randomized administration of one of the three following experimental drugs per day: isoxsuprine (200 mg/cow, iv), xylazine (2 mg/100 kg, iv), and lidocaine for epidural anesthesia (100 mg/cow). Doppler sonographic examination was repeated 30 minutes after medication. Maternal pulse rate increased during the study period (P < 0.001), and the diameter of the contralateral AUT was smaller in the last week before birth than in the two preceding weeks. The resistance index (RI) of the ipsilateral AUT was smaller in the last week than in the first 2 weeks of the study period. Uterine blood flow volume increased after isoxsuprine by 5% and after epidural anesthesia by 6% (both P ≤ 0.05) and decreased after xylazine by 10% (P < 0.001). Isoxsuprine was the only drug that elevated the blood flow volume in the AUM (P ≤ 0.05). Xylazine increased the RI of both AUT (both P < 0.001) and significantly reduced maternal and fetal pulse frequencies, whereas isoxsuprine significantly reduced the RI of both AUT and the AUM and increased maternal and fetal pulse frequencies. The results reported that Doppler sonographic measurements of uterine and AUM change little in the last

  17. Multiparametric sonographic imaging of a capillary hemangioma of the testis: appearances on gray-scale, color Doppler, contrast-enhanced ultrasound and strain elastography.

    PubMed

    Bernardo, Silvia; Konstantatou, Eleni; Huang, Dean Y; Deganello, Annamaria; Philippidou, Marianna; Brown, Christian; Sellars, Maria E; Sidhu, Paul S

    2016-03-01

    We report a case of a lobular capillary hemangioma in a 66-year-old man, who presented with left testicular pain, with an asymptomatic incidental right testicular lesion found on ultrasonography. The sonographic examination demonstrated a heterogeneous mainly iso-echoic intratesticular lesion with marked vascularity on the color Doppler examination. Further evaluation with contrast-enhanced ultrasound and strain elastography was performed; the multiparametric imaging suggested a benign tumor. The multidisciplinary team decision with patient consent was to perform a radical orchiectomy with subsequent histopathology confirming a benign lobular capillary hemangioma.

  18. [Cultivation of amniotic fluid cells for the purpose of diagnosing certain metabolic diseases].

    PubMed

    Zolotukhina, T V; Tsvetkova, I V

    1980-03-01

    A method for preparing amniotic fluid cell culture has been developed. The optimal conditions for the culture involved the incubation period averaging 17.9 days. Normal activity values were obtained for 8 glycosidases whose deficiency is responsible for the development of hereditary accumulation diseases. The data obtained allow a prenatal diagnosis of glycolipidoses (Tay-Sachs, Fabrys, Gaucher's diseases, etc.). The evidence on prenatal diagnosis of Tay-Sach's disease is presented. PMID:7388145

  19. Prenatal Choline Availability Alters the Context Sensitivity of Pavlovian Conditioning in Adult Rats

    ERIC Educational Resources Information Center

    Lamoureux, Jeffrey A.; Meck, Warren H.; Williams, Christina L.

    2008-01-01

    The effects of prenatal choline availability on Pavlovian conditioning were assessed in adult male rats (3-4 mo). Neither supplementation nor deprivation of prenatal choline affected the acquisition and extinction of simple Pavlovian conditioned excitation, or the acquisition and retardation of conditioned inhibition. However, prenatal choline…

  20. Does Maternal Prenatal Stress Adversely Affect the Child's Learning and Memory at Age Six?

    ERIC Educational Resources Information Center

    Gutteling, Barbara M.; de Weerth, Carolina; Zandbelt, Noortje; Mulder, Eduard J. H.; Visser, Gerard H. A.; Buitelaar, Jan K.

    2006-01-01

    Prenatal maternal stress has been shown to affect postnatal development in animals and humans. In animals, the morphology and function of the offspring's hippocampus is negatively affected by prenatal maternal stress. The present study prospectively investigated the influence of prenatal maternal stress on learning and memory of 112 children (50…