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Sample records for disease prenatal sonographic

  1. Prenatal sonographic diagnosis of congenital varicella syndrome.

    PubMed

    Tongsong, Theera; Srisupundit, Kasemsri; Traisrisilp, Kuntharee

    2012-01-01

    Congenital varicella syndrome is a rare disorder occurring in less than 1% of maternal varicella during early pregnancy but is associated with high fetal morbidity and mortality. This case report aimed to describe the sonographic features of congenital varicella syndrome following maternal varicella. Well-documented maternal chicken pox was made at 12 weeks of gestation and prenatal ultrasound was performed at 16 weeks. Striking sonographic features included hydropic changes and disseminated calcifications in multiple organs, especially liver and myocardium. Elective termination of pregnancy was done at 17 weeks. The presence of disseminated calcifications could suggest the diagnosis of congenital varicella syndrome. PMID:22323269

  2. Intrauterine Temporomandibular Joint Dislocation: Prenatal Sonographic Evaluation

    PubMed Central

    Çil, Ahmet Said; Bozkurt, Murat; Bozkurt, Duygu Kara

    2014-01-01

    Congenital temporomandibular joint (TMJ) diseases are very rare disorders and are usually diagnosed in childhood. Developmental disorders of the TMJ such as hypoplasia, hyperplasia, and aplasia of the TMJ compartments are characterized by TMJ dysfunction. In childhood, these patients experience recurrent dislocation, pain, and malocclusion. We present the case of a 25-week fetus with unilateral TMJ dislocation with fluid retention in the joint diagnosed by ultrasonography. To the best of our knowledge, this is the first case of TMJ dislocation diagnosed by ultrasonographic evaluation during the prenatal period. PMID:23669613

  3. Intrauterine temporomandibular joint dislocation: prenatal sonographic evaluation.

    PubMed

    Çil, Ahmet Said; Bozkurt, Murat; Bozkurt, Duygu Kara

    2014-09-01

    Congenital temporomandibular joint (TMJ) diseases are very rare disorders and are usually diagnosed in childhood. Developmental disorders of the TMJ such as hypoplasia, hyperplasia, and aplasia of the TMJ compartments are characterized by TMJ dysfunction. In childhood, these patients experience recurrent dislocation, pain, and malocclusion. We present the case of a 25-week fetus with unilateral TMJ dislocation with fluid retention in the joint diagnosed by ultrasonography. To the best of our knowledge, this is the first case of TMJ dislocation diagnosed by ultrasonographic evaluation during the prenatal period. PMID:23669613

  4. Sonographic prenatal diagnosis of intracranial fetus in fetu.

    PubMed

    Ianniruberto, A; Rossi, P; Ianniruberto, M; Rella, G; Ciminelli, V

    2001-07-01

    A case of sonographic prenatal diagnosis of a complex intracranial mass, with features of a fetus in fetu at 17 weeks' gestation, is reported. This diagnosis is reserved for a highly organized tumor containing a vertebral column and recognizable fetal parts and should be differentiated from a teratoma. PMID:11489229

  5. 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

  6. Prenatal sonographic features of fetuses in trisomy 13 pregnancies. IV.

    PubMed

    Chen, Chih-Ping

    2010-03-01

    Prenatal ultrasound is a powerful tool to detect structural abnormalities associated with the fetuses in trisomy 13 pregnancies. This article provides a comprehensive review of the prenatal sonographic markers of trisomy 13 in the first trimester, including fetal nuchal translucency thickness, fetal heart rate, fetal nasal bone, fetal tricuspid regurgitation, ductus venous flow, fetal crown-rump length, fetal trunk and head volume, fetal frontomaxillary facial angle, gestational sac volume and umbilical cord diameter, along with biochemical markers such as maternal serum free beta-human chorionic gonadotropin, maternal serum pregnancy-associated plasma protein-A, maternal serum placental growth factor, and the fetal and total cell-free DNA concentration in the maternal circulation. PMID:20466286

  7. Megacystis-microcolon-intestinal hypoperistalsis syndrome. Prenatal sonographic findings and review of the literature.

    PubMed

    Vintzileos, A M; Eisenfeld, L I; Herson, V C; Ingardia, C J; Feinstein, S J; Lodeiro, J G

    1986-10-01

    A case of megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) in a male infant followed with serial prenatal sonographic examinations is presented. Upon review of the literature, 26 cases of MMIHS have been previously reported of which only 3 were males. The prenatal sonographic diagnosis of this rare syndrome is discussed along with the clinical, pathologic findings and outcome of all reported cases. PMID:3530266

  8. Prenatal diagnosis of proximal focal femoral deficiency: Literature review of prenatal sonographic findings.

    PubMed

    D'Ambrosio, Valentina; Pasquali, Gaia; Squarcella, Antonia; Marcoccia, Eleonora; Filippis, Angela De; Gatto, Silvia; Camilla, Aliberti; Pizzuti, Antonio; Torre, Renato La; Giancotti, Antonella

    2016-05-01

    Proximal focal femoral deficiency (PFFD) is a rare musculoskeletal malformation that occurs in 0.11-0.2 per 10,000 live births. This congenital anomaly involves the pelvis and proximal femur with widely variable manifestations, from mild femoral shortening and hypoplasia to the absence of any functional femur and acetabular aplasia. Prenatal diagnosis of PFFD is still a challenge, but early recognition of this malformation could provide useful information to both parents and physicians concerning management and therapeutic planning. For this review, we analyzed all the cases of prenatally diagnosed PFFD that were reported in the literature from 1990 to 2014 and provide a description of the most common prenatal sonographic findings. © 2015 Wiley Periodicals, Inc. J Clin Ultrasound 44:252-259, 2016. PMID:26408260

  9. 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. PMID:25385298

  10. Castleman's disease of the kidney: Sonographic findings.

    PubMed

    Ooi, Chin Chin; Cheah, Foong Koon; Wong, Siew Kune

    2015-09-01

    We report a case of rare Castleman's disease of the kidney that mimicked a renal neoplasm with emphasis on the imaging and histologic findings. A 47-year-old man presented with dyspeptic symptoms. Ultrasound revealed a vascular, heterogeneous mass in the left kidney. Multiphasic CT scan confirmed an enhancing lesion with enlarged left para-aortic lymph nodes suspicious for nodal metastases. The provisional diagnosis was renal cell carcinoma. Percutaneous biopsy yielded a diagnosis of Castleman's disease of the hyaline-vascular type. Despite advancement in imaging modalities, differentiation of hyaline-vascular variant of Castleman's disease from hypervascular renal neoplasm remains difficult and the final diagnosis requires histopathological confirmation. PMID:24947075

  11. 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

  12. 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

  13. 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

  14. Pulsed and Color Doppler Sonographic Findings of Penile Mondor's Disease

    PubMed Central

    Han, Hye Yeon; Kim, Kum Won; Hwang, Cheol Mog

    2008-01-01

    This report describes the color and pulsed Doppler US findings of penile Mondor's disease. The pulsed Doppler US findings of penile Mondor's disease have not been previously published, so we report here for the first time on the cavernosal arterial flow signal pattern of penile Mondor's disease. Penile Mondor's disease is rare disease that's characterized by thrombosis in the dorsal vein of the penis. The previous reports on penile Mondor's disease are concerned with the color Doppler US finding without the flow signals in this area, but these findings are insufficient to understand the hemodynamics in penile Mondor's disease. We report for the first time on a cavernosal artery flow signal pattern of low peak systolic velocity and high-resistance. PMID:18385566

  15. 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

  16. Sonographic Findings in Gouty Arthritis: Diagnostic Value and Association with Disease Duration.

    PubMed

    Elsaman, Ahmed M; Muhammad, Eman M S; Pessler, Frank

    2016-06-01

    The objective of this work was to evaluate the sonographic features of gouty arthritis and correlate findings with disease duration. The study was conducted on 100 patients in ambulatory care aged ≥40 y. Inclusion criteria included mono- or oligo-arthritis with effusion of the knee or the first metatarsophalangeal (MTP) joint and no known history of gout. A complete medical history was obtained with emphasis on the known risk factors or causes of gouty arthritis. A 12-MHz Medison linear probe was used for ultrasonography (US). Synovial fluid analysis with polarizing light microscopy was performed on all patients. Ninety-eight knee joints and 33 first MTP joints were examined. Gouty arthritis was found by US in four forms: (i) floating echogenic foci in effusion fluid or Baker cysts, (ii) deposits on the cartilage surface (double contour sign), (iii) erosions and (iv) mature tophus/tophi. These were found in 78.9%, 42.3%, 39.4% and 28.2% of patients, respectively. The overall sensitivity and specificity of US in detecting gout (as defined by the clinical gold standard, i.e., detection of urate crystals by polarizing light microscopy) were 85.9% and 86.7%, respectively. Detection of echogenic foci in effusion fluid was associated with the shortest duration of symptoms (median duration 2 y) followed by double contour sign (3.5 y), erosions (4 y) and tophus (12.5 y). Sonographic findings in gout can be assigned a temporal pattern, with echogenic foci being associated with the shortest and full tophus formation with the longest disease duration. PMID:26995154

  17. Pregnancy related breast diseases in a developing African country: Initial Sonographic Evaluation

    PubMed Central

    Adeniji-Sofoluwe, Adenike Temitayo; Obajimi, Gbolahan Oladele; Obajimi, Millicent Olubunmi

    2015-01-01

    Benign diseases are more common than malignant diseases in pregnant and lactating women. Fibroadenomas are the most commonly identified benign breast tumour in pregnant and lactating women. Pregnancy related breast cancer is defined as breast cancer that occurs during pregnancy or within 1 year of delivery. Its incidence is estimated at 1 in 3000 to 1 in 10 000 pregnancies. Several reproductive factors like age at menarche, age at menopause, age at full-term pregnancy, parity, age at any birth and spacing of pregnancies, breast feeding, characteristics of the menstrual cycle, infertility, spontaneous and induced abortions, characteristics of the menstrual cycle and infertility are some of the factors that have been incriminated as risk factors for breast cancer. We sought to describe the predominant breast pattern, sonographic array of pregnancy related breast diseases in women referred to the breast imaging unit in the department of Radiology at the University College Hospital, Ibadan south west Nigeria. Socio-demographic characteristics in these women were also evaluated. Archived images were reviewed and documented and data was analysed with SPSS version 17 and presented with descriptives. In this descriptive study, we retrospectively retrieved the sonomammographic records of 21 women (pregnant or lactating) referred to and imaged in the department of radiology, University college hospital Ibadan, between 2006 and 2013. Diagnostic breast sonograms performed by MO and ATS; Consultant radiologists with 7-10 years’ experience utilized a 7-10 MHz transducer of the General electric GE Logiq P5 machine for the scans. Twenty-one women with ages between 22-42 years (Mean 31.4 ±5.4 SD) pregnant or lactating were referred to the radiology department for sonomammographic evaluation. Majority of the women were in the 3rd decade. Referral was mainly (11) by family Physicians from the general outpatient clinic, 5 were self-referred, 2 from radiotherapy department, 2 from

  18. 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

  19. A Comparative Study of Sonographic Grading of Renal Parenchymal Changes and Estimated Glomerular Filtration Rate (eGFR) using Modified Diet in Renal Disease Formula

    PubMed Central

    Shivalli, Siddharudha; Pai, B.H. Santhosh; Acharya, Koteshwara Devadasa; Gopalakrishnan, Ravichandra; Srikanth, Vivek; Reddy, Vishwanath; Haris, Arafat

    2016-01-01

    Introduction The sonographic findings are of help in evaluating the nephrological diseases. Glomerular filtration rate is another parameter for assessing the reserved renal function and an indicator of prognosis. In clinical practice GFR estimation (eGFR) is done by using a mathematical formula. In our study, we compared the sonographic grading of renal parenchymal changes with eGFR calculated using Modified Diet in Renal Diseases formula based on serum creatinine, age, gender and ethnicity. Aim To evaluate the relevance of sonographic grading of renal parenchymal changes in assessing the severity of the renal disease and comparing it to the eGFR calculated using MDRD formula based on the age, gender and serum creatinine value of the patient. Materials and Methods The adult patients with suspected kidney disease referred for sonography of abdomen were our study participants. As per our study design following strict inclusion and exclusion criteria, patients were selected as study participants and for each of the patient’s renal parenchymal status, serum creatinine, age, gender and ethnicity were documented. Results A total of 70 patients were our study participants, out of which 67.1% were males and 32.9% were females. Our study showed a linear correlation between sonographic grading of renal parenchymal changes with eGFR. Conclusion We conclude that by evaluating the kidneys with sonography and calculating eGFR using MDRD formula the renal status will be more accurately interpreted. PMID:27042555

  20. [Prenatal care in Germany].

    PubMed

    Vetter, K; Goeckenjan, M

    2013-12-01

    Prenatal care in Germany is based on a nationwide standardized program of care for pregnant women. Besides support and health counseling, it comprises prevention or early detection of diseases or unfavorable circumstances with risks for mother and child. Prenatal care is regulated by law and structured by directives and standard procedures in maternity guidelines (Mutterschafts-Richtlinien). This includes information and counseling of future mothers on offers of psychosocial and medical assistance in normal pregnancies as well as in unplanned or unwanted pregnancies. Further aspects are clinical examinations and risk determinations for genetic variations or direct genetic analysis. During pregnancy, medical history, clinical examination, and blood testing are part of the sophisticated program, which includes at least three standardized sonographic examinations at 10, 20, and 30 weeks of gestation. The maternity passport allows a pregnant woman to carry the most relevant information on her pregnancy and her personal risks with her. For 45 years now, women in Germany are used to carrying their Mutterpass. Societal changes have influenced the central goals of maternity care: In the beginning, the mortality of mother and child had to be reduced. Today, maternal morbidity and impaired development of the child are the center of interest, with expansion to familial satisfaction. The reduction in the mortality and morbidity of both the mother and the child during pregnancy, delivery, and postpartum can be attributed to prenatal care. Thus, investment in a program of nationwide structured prenatal care seems to be worthwhile-despite the lack of evidence concerning its effectiveness. PMID:24337130

  1. [Split hand-foot: sonographic detection at 12 weeks].

    PubMed

    González-Ballano, Isabel; Savirón-Cornudella, Ricardo; Alastuey-Aisa, María; Garrido-Fernández, Pilar; Lerma-Puertas, Diego

    2014-07-01

    Split hand-foot malformation is a rare disorder inherited in an autosomal dominant pattern with variable expression. Inour case, it was detected early by ultrasound in the twelfth week of gestation. The sonographic findings were bilateral split hands and feet. No other alterations were observed in the rest of the systematic assessment of the foetal anatomy. The pathological findings were consistent with the sonographic diagnosis. Prenatal diagnosis by corionic villus sampling was performed and voluntary termination of gestation decided. PMID:25102675

  2. 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

  3. Magnetic resonance imaging for prenatal diagnosis of multisystem disease: megacystis microcolon intestinal hypoperistalsis syndrome.

    PubMed

    Munch, Erika M S; Cisek, Lawrence J; Roth, David R

    2009-09-01

    We discuss a third-trimester diagnosis of Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) using magnetic resonance imaging (MRI) and consider the benefits of MRI as a noninvasive imaging technique after routine ultrasonography reveals genitourinary pathology requiring further elucidation. MMIHS is a rare cause of functional gastrointestinal and genitourinary obstruction in newborns. Because of the poor prognosis of MMIHS, prenatal diagnosis is warranted for optimal prenatal counseling and postnatal treatment. Although MMIHS commonly presents on ultrasonography, the limitations of ultrasonography make definitive diagnosis difficult. However, MRI is safe, accurate, and can be used for early prenatal diagnoses of multisystem diseases. PMID:19501881

  4. 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

  5. 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

  6. Prenatal stress: Role in psychotic and depressive diseases

    PubMed Central

    Markham, Julie A.

    2011-01-01

    Rationale The birth of neurons, their migration to appropriate positions in the brain, and their establishment of the proper synaptic contacts happen predominately during the prenatal period. Environmental stressors during gestation can exert a major impact on brain development and thereby contribute to the pathogenesis of neuropsychiatric illnesses, such as depression and psychotic disorders including schizophrenia. Objective The objectives here are to present recent preclinical studies of the impact of prenatal exposure to gestational stressors on the developing fetal brain and discuss their relevance to the neurobiological basis of mental illness. The focus is on maternal immune activation, psychological stresses, and malnutrition, due to the abundant clinical literature supporting their role in the etiology of neuropsychiatric illnesses. Results Prenatal maternal immune activation, viral infection, unpredictable psychological stress, and malnutrition all appear to foster the development of behavioral abnormalities in exposed offspring that may be relevant to the symptom domains of schizophrenia and psychosis, including sensorimotor gating, information processing, cognition, social function, and subcortical hyperdopaminergia. Depression-related phenotypes, such as learned helplessness or anxiety, are also observed in some model systems. These changes appear to be mediated by the presence of proinflammatory cytokines and/or corticosteroids in the fetal compartment that alter the development the neuroanatomical substrates involved in these behaviors. Conclusion Prenatal exposure to environmental stressors alters the trajectory of brain development and can be used to generate animal preparations that may be informative in understanding the pathophysiological processes involved in several human neuropsychiatric disorders. PMID:20949351

  7. Fetal Bowel Dilatation: A Sonographic Sign of Uncertain Prognosis

    PubMed Central

    Silva, Patrícia; Reis, Filipa; Alves, Paulo; Farinha, Luís; Gomes, Manuel Sousa; Câmara, Pilar

    2015-01-01

    Fetal bowel dilatation is an indirect sonographic sign of mechanical or functional bowel obstruction. The etiology of fetal bowel dilatation is a difficult prenatal diagnosis since ultrasound has limited accuracy for bowel evaluation. The authors describe a case of fetal bowel dilatation diagnosed in the third trimester. PMID:26819789

  8. Lingering prenatal effects of the 1918 influenza pandemic on cardiovascular disease

    PubMed Central

    Mazumder, B.; Almond, D.; Park, K.; Crimmins, E. M.; Finch, C. E.

    2009-01-01

    Prenatal exposure to the 1918 influenza pandemic (Influenza A, H1N1 subtype) is associated with ≥20% excess cardiovascular disease at 60 to 82 years of age, relative to cohorts born without exposure to the influenza epidemic, either prenatally or postnatally (defined by the quarter of birth), in the 1982–1996 National Health Interview Surveys of the USA. Males showed stronger effects of influenza on increased later ischemic heart disease than females. Adult height at World War II enlistment was lower for the 1919 birth cohort than for those born in adjacent years, suggesting growth retardation. Calculations on the prevalence of maternal infections indicate that prenatal exposure to even uncomplicated maternal influenza may have lasting consequences later in life. These findings suggest novel roles for maternal infections in the fetal programming of cardiovascular risk factors that are independent of maternal malnutrition. PMID:20198106

  9. Experience with Carrier Screening and Prenatal Diagnosis for Sixteen Ashkenazi Jewish Genetic Diseases

    PubMed Central

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

    2010-01-01

    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

  10. The expressivist objection to prenatal testing: the experiences of families living with genetic disease.

    PubMed

    Boardman, Felicity Kate

    2014-04-01

    The expressivist objection to prenatal testing is acknowledged as a significant critique of prenatal testing practices most commonly advanced by disability rights supporters. Such writers argue that prenatal testing and selective termination practices are objectionable as they express disvalue not only of the foetus being tested, but also of disabled people as a whole, by focusing exclusively on the disabling trait. While the objection has been widely critiqued on the basis of its theoretical incoherence, this paper highlights the way in which it, nevertheless, is a significant mediator in decisions around the use of reproductive genetic technologies. By drawing on 41 in-depth qualitative interviews (drawn from a sample of 61) conducted in the UK between 2007 and 2009 with families and individuals living with a genetic disease, Spinal Muscular Atrophy (SMA), this paper highlights the ways in which expressivist objections feature prominently in the reproductive decisions of families living with SMA and the significant emotional burden they represent. While the literature on the expressivist objection has focused on the reproductive decisions of those undergoing prenatal testing for a condition of which they have little (or no) prior knowledge, the context of intimate familial relationships and extensive experience with the tested-for condition fundamentally alters the nature and impact of expressivist objections within families living with an inheritable condition. By focussing on the reproductive decisions of families living with SMA and their strategic management of the expressivist objection, this paper will address the call, made primarily by disability rights supporters, for 'experientially based' (as opposed to medical) information about the tested-for disability to be made available to would-be parents considering selective termination. It will be argued that parents' experiential knowledge of the tested-for disability can, in fact, amplify expressivist

  11. [Sonographic leg length measurement].

    PubMed

    Holst, A; Thomas, W

    1989-03-01

    After brief presentation of the clinical and radiological methods to measure the leg length and the leg length difference the authors outline the new diagnostic method for measuring the leg length and the leg length difference by means of real time sonography. Postmortem tests and clinical examples show that ultrasound is ideal to determine exactly the length of femur and tibia. The joint gaps on the hip, knee and upper ankle joint can be demonstrated by means of a 5 MHz linear scanner. A 1 mm strong metal bar on the skin and under the scanner is placed at right angles to the longitudinal axis of the body so that the bar can be seen in the centre. A measuring device gives the distances of the joint gaps in cm so that the difference correspond to the real length of femur and tibia. This standardised measuring is done by a particularly developed bearing and measuring device. The results of the sonographical measurements on 20 corpses and checking after consecutive dissections showed in 75% of cases a 100% sonographic measuring accuracy of the total leg length. The separately considered results for femur (85%) and tibia (90) were even better. The maximum sonographic measuring fault was 1.0 cm for the femur (in one case) and 0.5 cm for the tibia, respectively. All sonographic measurements were performed with the Sonoline SL-1 of the Siemens Company (Erlangen, W-Germany). Thus, sonographical measuring of the leg length offers a reliable, non-invasive method that can be repeated as often as necessary and is simply executed.(ABSTRACT TRUNCATED AT 250 WORDS) PMID:2652268

  12. 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

  13. 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 ...

  14. 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 ...

  15. Improvement in strategies for the non-invasive prenatal diagnosis of Huntington disease

    PubMed Central

    Garcia-Hoyos, Maria; Trujillo-Tiebas, M. Jose; Bustamante Aragonés, A.; Rodriguez de Alba, M.; Alvarez, D. Diego; Diaz-Recasens, Joaquín; Ayuso, Carmen; Ramos, Carmen

    2008-01-01

    Purpose We focused on the improvements of prenatal diagnosis by the analysis of DNA from maternal plasma, using Huntington disease as a model of disease. Methods We studied plasma from a pregnancy at risk of having a fetus affected with Huntington disease by the use of two direct analysis of the mutation and polymorphic STRs. Results Direct methods were not informative. Analysis with STRs revealed the presence of the allele that does not co-segregate with the disease, thus the fetus was healthy. Conclusions This strategy is very useful to face complex cases when the direct study is not informative not only for Huntington disease but also for many other disorders. PMID:18853247

  16. 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

  17. Prenatal diagnosis of Morquio disease type A using a simple fluorometric enzyme assay.

    PubMed

    Zhao, H; Van Diggelen, O P; Thoomes, R; Huijmans, J; Young, E; Mazurczak, T; Kleijer, W J

    1990-02-01

    A new fluorogenic substrate, 4 methylumbelliferyl beta-D-6-sulphogalactoside, was used for the assay of galactose-6-sulphate sulphatase activity in chorionic villi, cultured villus cells, and amniocytes. The fluorometric assay is much more convenient than the conventional assay using radiolabelled, sulphated oligosaccharides. Both types of substrate were used in the prenatal diagnosis of three pregnancies at risk for Morquio type A disease using amniocytes. These enzyme tests, as well as electrophoresis of glycosaminoglycans in the amniotic fluid, indicated affected fetuses in two pregnancies and a non-affected fetus in one. PMID:2111546

  18. Prenatal diagnosis of congenital renal and urinary tract malformations.

    PubMed

    Hindryckx, A; De Catte, L

    2011-01-01

    Congenital abnormalities of the kidneys and the urinary tract are the most common sonographically identified -malformations in the prenatal period. Obstructive uropathies account for the majority of cases. The aim of prenatal diagnosis and management is to detect those anomalies having impact on the prognosis of the affected child and -requiring early postnatal evaluation or treatment to minimize adverse outcomes. In this paper, we summarize the embryology of kidneys and urinary tract, the normal sonographic appearance through-out pregnancy and the prenatal diagnosis of their congenital malformations. PMID:24753862

  19. Potential latent effects of prenatal cocaine exposure on growth and the risk of cardiovascular and metabolic disease in childhood☆

    PubMed Central

    Messiah, Sarah E.; Miller, Tracie L.; Lipshultz, Steven E.; Bandstra, Emmalee S.

    2011-01-01

    The literature strongly suggests that prenatal exposure to certain medications and substances does not cause major malformations in early childhood. However, these exposures may have far-reaching latent health effects, such as restricted growth, hypertension, and cardiovascular events in adulthood. We reviewed the literature to identify the effects of prenatal cocaine exposure on growth and the risk of cardiovascular and metabolic disease in late adolescence and early adulthood by examining studies that were published in peer-reviewed English-language journals from 1990 through 2009 and indexed in MEDLINE. We found that animal and clinical studies of the influence of prenatal cocaine exposure on child and adolescent growth and the subsequent development of myocardial and cardiometabolic disease risk factors are few and inconclusive. Studies support the hypothesis that vascular and hemodynamic functions are partially programmed in early life and thus substantially influence vascular aging and arterial stiffening in later life. Sub-optimal fetal nutrition and growth may increase blood pressure and the development of cardiovascular and metabolic disease in late life. How prenatal cocaine and other drug exposure effects this relationship is currently unknown. Despite high rates of cocaine and other drug use during pregnancy (up to 18% in some studies), little is known about the health effects of prenatal cocaine exposure in adolescence and early adulthood. The few studies of early growth deficits persisting into adolescence are inconclusive. The literature provides little information on how exposed children grow into adulthood and about their subsequent risk of cardiometabolic and vascular disease. PMID:21318092

  20. 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

  1. Sonographic evaluation of athletic pubalgia.

    PubMed

    Morley, Nicholas; Grant, Thomas; Blount, Kevin; Omar, Imran

    2016-05-01

    Athletic pubalgia, or "sports hernia", represents a constellation of pathologic conditions occurring at and around the pubic symphysis. These injuries are primarily seen in athletes or those involved in athletic activity. In this article, we review the sonographic appearance of the relevant complex anatomy, scanning technique for ultrasound evaluation of athletic pubalgia, and the sonographic appearances of associated pathologic conditions. PMID:26861161

  2. 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

  3. Haplotype analysis in prenatal diagnosis and carrier identification of Salla disease.

    PubMed Central

    Schleutker, J; Sistonen, P; Aula, P

    1996-01-01

    Salla disease (SD) is an autosomal recessive disorder in which free sialic acid (N-acetyl neuraminic acid) accumulates in lysosomes. A specific transport mechanism for acidic monosaccharides on the lysosomal membrane has recently been described, but the molecular deficiency causing SD is still unknown. We have previously mapped the SD gene to 6q14-q15 by means of genetic linkage analysis and restricted the positive chromosomal area to less than 100 kb with linkage disequilibrium mapping. The two best allelic association markers have now retrospectively been used in five prenatal analyses originally studied with sialic acid assays in chorionic villus specimens. In four cases an unaffected fetus was predicted with a probability level of more than 94%, which was in concordance with the biochemical data. One fetus was predicted to be affected with over 96% probability, as was shown by free sialic acid assays in a CVS sample and in fetal tissues after termination of the pregnancy. Risk calculations incorporating disequilibrium were also used to predict the carrier status in members of six families with previous SD cases, and also in a few cases with no known family history of SD. DNA marker based analysis thus provides a reliable method for risk estimations in prenatal cases and for carrier identification of SD. PMID:8825046

  4. 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

  5. Prenatal diagnosis of Sanfilippo disease type C using a simple fluorometric enzyme assay.

    PubMed

    He, W; Voznyi YaV; Huijmans, J G; Geilen, G C; Karpova, E A; Dudukina, T V; Zaremba, J; Van Diggelen, O P; Kleijer, W J

    1994-01-01

    A new fluorogenic substrate, 4-methylumbelliferyl beta-D-glucosaminide, was used for the assay of acetyl CoA:glucosaminide N-acetyltransferase in chorionic villi, cultured villus cells, and amniocytes. Optimal conditions for the assay and the ranges of enzyme activity were established for the various types of fetal cells. This simple fluorometric assay provides a reliable method for early prenatal diagnosis of Sanfilippo disease type C which is more convenient than current methods using radiolabelled substrates. The method was applied to amniotic fluid cells and fetal fibroblasts from an at-risk pregnancy in which an affected fetus was diagnosed by two-dimensional electrophoresis of glycosaminoglycans in the amniotic fluid. PMID:8183833

  6. Prenatal diagnosis of autosomal recessive polycystic kidney disease by molecular genetic analysis.

    PubMed

    Jang, Dong Gyu; Chae, Hyojin; Shin, Jong Chul; Park, In Yang; Kim, Myungshin; Kim, Yonggoo

    2011-11-01

    A 27-year-old primigravida was referred for evaluation of severe oligohydramnios at 22 weeks of gestation. For a more accurate diagnosis and detection of other fetal anomalies, complementary fetal magnetic resonance imaging (MRI) was performed. Findings of fetal MRI evaluation were consistent with autosomal recessive polycystic kidney disease (ARPKD). Parental mutation analysis in the PKHD1 gene was performed. By PKHD1 mutation analysis, we were able to identify a heterozygous missense mutation in exon 20 (K626R) in the father. Molecular genetic analysis can be helpful for an early and reliable prenatal diagnosis of ARPKD. Herein, we present a case of ARPKD that was diagnosed at 22 weeks of gestation by ultrasonographic examination and MRI and verified by PKHD1 mutation analysis and array-based genetic deletion analysis. PMID:21790888

  7. 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

  8. Sonographic Elastography of Mastitis.

    PubMed

    Sousaris, Nicholas; Barr, Richard G

    2016-08-01

    Sonographic elastography has been shown to be a useful imaging modality in characterizing breast lesions as benign or malignant. However, in preliminary research, mastitis has given false-positive findings on both strain and shear wave elastography. In this article, we review the findings in mastitis with and without abscess formation on both strain and shear wave elastography. The elastographic findings in all cases were suggestive of a malignancy according to published thresholds. In cases of mastitis with abscess formation, there is a characteristic appearance, with a central very soft area (abscess cavity) and a very stiff outer rim (edema and inflammation). This appearance should raise the suspicion of mastitis with abscess formation, since these findings are rare in breast cancers. PMID:27353071

  9. Prenatal management of disorders of sex development.

    PubMed

    Chitty, Lyn S; Chatelain, Pierre; Wolffenbuttel, Katja P; Aigrain, Yves

    2012-12-01

    Disorders of sex development (DSD) rarely present prenatally but, as they are very complex conditions, management should be directed by highly specialised medical teams to allow consideration of all aspects of diagnosis, treatment and ethical issues. In this brief review, we present an overview of the prenatal presentation and management of DSD, including the sonographic appearance of normal genitalia and methods of determining genetic sex, the prenatal management of pregnancies with the unexpected finding of genital ambiguity on prenatal ultrasound and a review of the prenatal management of pregnancies at high risk of DSD. As this is a rapidly developing field, management options will change over time, making the involvement of clinical geneticists, paediatric endocrinologists and urologists, as well as fetal medicine specialists, essential in the care of these complex pregnancies. The reader should also bear in mind that local social, ethical and legal aspects may also influence management. PMID:23131529

  10. Prenatal diagnosis of fetal adrenal hemorrhage and endocrinologic evaluation

    PubMed Central

    Shin, Se In; Yoo, Ji Geun; Park, In Yang

    2016-01-01

    We present a case of a fetal adrenal hemorrhage, a rare disease in fetal life, detected prenatally at 36 weeks' gestation by ultrasound. Routine ultrasound examination at 36 weeks' gestation by primary obstetrician showed a cyst on the fetal suprarenal area. Initially, the suspected diagnosis was a fetal adrenal hemorrhage, but we should diagnose differently from neuroblastoma. Subsequent ultrasound examination at 38 and 39 weeks' gestation showed increase of the cyst in size. A 3.34-kg-male neonate was born by spontaneous vaginal delivery at 39 weeks' gestation. The diagnosis of adrenal hemorrhage was confirmed by postnatal follow-up sonograms and magnetic resonance imaging. Course and sonographic signs were typical for adrenal hemorrhage and the neonate was therefore managed without surgical exploration. PMID:27200316

  11. Evaluation of exclusion prenatal and exclusion preimplantation genetic diagnosis for Huntington's disease in the Netherlands.

    PubMed

    van Rij, M C; de Die-Smulders, C E M; Bijlsma, E K; de Wert, G M W R; Geraedts, J P; Roos, R A C; Tibben, A

    2013-02-01

    Individuals at 50% risk of Huntington's disease (HD) who prefer not to know their carrier status, might opt for exclusion prenatal diagnosis (ePND) or exclusion preimplantation genetic diagnosis (ePGD). This study aims to provide a better understanding of couples' motives for choosing ePND or ePND, and surveys couples' experiences in order to make recommendations for the improvement of counselling for exclusion testing. This qualitative retrospective interview study focussed on couples who underwent ePND or ePGD for HD in the period 1996-2010. Seventeen couples were included of which 13 had experienced ePND and 6 ePGD. Mean time-interval since exclusion-testing was 3.9 years. Couples' moral reservations regarding termination of pregnancy (TOP) or discarding healthy embryos were counterbalanced by the wish to protect their future child against HD. Seven couples had terminated a total of 11 pregnancies with a 50% HD risk, none showed regret. ePGD was used by couples who wanted to avoid (another) TOP. ePND and ePGD are acceptable reproductive options for a specific group of counsellees. To guarantee sound standards of care, it is imperative that candidate couples be given in-depth non-directive counselling about all possible scenarios, and adequate professional and psychological support prior to, during and after ePND/ePGD. PMID:23137131

  12. Assessing Latent Effects of Prenatal Cocaine Exposure on Growth and Risk of Cardiometabolic Disease in Late Adolescence: Design and Methods

    PubMed Central

    Messiah, Sarah E.; Lipshultz, Steven E.; Miller, Tracie L.; Accornero, Veronica H.; Bandstra, Emmalee S.

    2012-01-01

    Prenatal cocaine exposure has been linked to neurocognitive and developmental outcomes throughout childhood. The cardiovascular toxicity of cocaine is also markedly increased in pregnancy, but it is unknown whether this toxicity affects anthropometric growth and the development of cardiometabolic disease risk factors in the offspring across the lifespan. During the early 1990s, the Miami Prenatal Cocaine Study enrolled a cohort of 476 African American children (253 cocaine-exposed, 223 non-cocaine-exposed) and their biological mothers at delivery in a prospective, longitudinal study. The MPCS has collected 12 prior waves of multidomain data on over 400 infants and their mothers/alternate caregivers through mid-adolescence and is now embarking on an additional wave of data collection at ages 18-19 years. We describe here the analytical methods for examining the relationship between prenatal cocaine exposure, anthropometric growth, and cardiometabolic disease risk factors in late adolescence in this minority, urban cohort. Findings from this investigation should inform both the fields of substance use and cardiovascular research about subsequent risks of cocaine ingestion during pregnancy in offspring. PMID:23304172

  13. 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

  14. [Monitoring pregnant patients from risk countries with sickle cell disease and thalassemia. Clinical aspects, screening and prenatal diagnosis].

    PubMed

    Dickerhoff, R; Kulozik, A E; Kohne, E

    1993-04-01

    At the present time, about 3.5 million people from Turkey, Greece, Italy, the Middle East, Africa and Asia are living in Germany. They are potential carriers of beta-thalassaemia and haemoglobinopathies such as sickle cell disease. These diseases are new for most of us and represent a challenge to physicians, taking care of these patients. Not only do we have to learn about the clinical problems of homozygous patients and how to handle them, we also have to become acquainted with the problems related to the heterozygous carrier stage. The large number of asymptomatic pregnant carriers of beta-globin anomalies is a particular challenge for obstetricians. They need to identify carriers through haemoglobin electrophoresis screening, inform the carrier about the meaning of being a carrier, screen the woman's partner, refer for genetic counselling and suggest and explain prenatal diagnosis in case the partner is also a carrier. There is as yet no cure for thalassaemia and sickle cell disease, except for bone marrow transplantation in a few selected cases. Therefore, prenatal diagnosis presents a valuable method of preventing severe chronic diseases. Screening does not only allow genetic counselling, the information gained has also clinical implications for carriers of beta-thalassaemia. In this paper a summary is given of the pathophysiological and clinical features of thalassaemia and sickle cell disease and molecular biology methods to diagnose thalassaemias and sickle cell disease are discussed. In addition, a screening programme for pregnant women from countries at risk is suggested to enable physicians to give optimal care and initiate prenatal diagnosis. PMID:8491363

  15. Prenatal diagnosis by FISH in a family with Pelizaeus-Merzbacher disease caused by duplication of PLP gene.

    PubMed

    Woodward, K; Palmer, R; Rao, K; Malcolm, S

    1999-03-01

    A diagnosis of Pelizaeus-Merzbacher disease (MIM 312080) was made in a young boy. No mutation in the coding region of the proteolipid protein (PLP) gene had been found. The boy's maternal aunt came for prenatal diagnosis when 16+ weeks pregnant and carrying a male fetus. Samples were tested for duplication of the PLP gene, by interphase FISH, in lymphocyte preparations from the proband, his aunt and an amniotic fluid cell preparation from the fetus. The proband was found to carry the duplication, thus confirming the diagnosis of Pelizaeus Merzbacher disease, but neither the aunt nor the fetus carried a duplication. PMID:10210128

  16. Niemann-Pick disease: prenatal diagnoses and studies of sphingomyelinase activities.

    PubMed

    Wenger, D A; Wharton, C; Sattler, M; Clark, C

    1978-01-01

    Five pregnancies were monitored for couples at-risk for having a child with some form of Niemann-Pick disease (NPD). Three of these were for the classic Type A form in which affected children usually have less than 1% of normal sphingomyelinase activity. Two of these pregnancies were terminated after the cultured amniotic-fluid cells were determined to have less than 1% of normal sphingomyelinase activity (0.4 and 0.6 nmole/mg protein/hr versus the control mean of 61.7). In the other pregnancy at risk for Type A NPD near normal activity was measured and it was continued to term. The two other pregnancies were monitored for couples in which severely affected children were found to have partially deficient sphingomyelinase activity (about 20% of normal) in cultured skin fibroblasts. Cultural amniotic-fluid cells from one of these pregnancies also had about 20% of control sphingomyelinase activity, but the woman underwent a spontaneous abortion soon after the cells were received and no studies on the fetus were done. The other sample was taken at the time of abortion for social reasons. In this case the cultured amniotic-fluid cells and cultured fetal skin fibroblasts gave normal sphingomyelinase activity. Enzymatic studies on tissues from the two fetuses predicted to be affected with Type A NPD confirmed the prenatal diagnosis. Studies of sphingomyelinase activity in the brains from these fetuses and from a child who died with Type A NPD indicated significant levels of activity when measured at pH 7.4 in the presence of magnesium. The higher level of the pH 7.4 sphingomyelinase activity in developing brain may indicate some important role in normal brain development. PMID:233699

  17. 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

  18. Prenatal Care

    MedlinePlus

    Prenatal care is the health care you get while you are pregnant. It includes your checkups and prenatal testing. Prenatal care can help keep you and your baby healthy. It lets your health care provider spot health problems early. Early treatment ...

  19. Evaluation of prenatal diagnosis of associated congenital heart diseases by fetal ultrasonographic examination in Europe.

    PubMed

    Stoll, C; Garne, E; Clementi, M

    2001-04-01

    Ultrasound scans in the mid trimester of pregnancy are now a routine part of antenatal care in most European countries. With the assistance of Registries of Congenital Anomalies a study was undertaken in Europe. The objective of the study was to evaluate prenatal detection of congenital heart defects (CHD) by routine ultrasonographic examination of the fetus. All congenital malformations suspected prenatally and all congenital malformations, including chromosome anomalies, confirmed at birth were identified from the Congenital Malformation Registers, including 20 registers from the following European countries: Austria, Croatia, Denmark, France, Germany, Italy, Lithuania, Spain, Switzerland, The Netherlands, UK and Ukrainia. These registries follow the same methodology. The study period was 1996-1998, 709 030 births were covered, and 8126 cases with congenital malformations were registered. If more than one cardiac malformation was present the case was coded as complex cardiac malformation. CHD were subdivided into 'isolated' when only a cardiac malformation was present and 'associated' when at least one other major extra cardiac malformation was present. The associated CHD were subdivided into chromosomal, syndromic non-chromosomal and multiple. The study comprised 761 associated CHD including 282 cases with multiple malformations, 375 cases with chromosomal anomalies and 104 cases with non-chromosomal syndromes. The proportion of prenatal diagnosis of associated CHD varied in relation to the ultrasound screening policies from 17.9% in countries without routine screening (The Netherlands and Denmark) to 46.0% in countries with only one routine fetal scan and 55.6% in countries with two or three routine fetal scans. The prenatal detection rate of chromosomal anomalies was 40.3% (151/375 cases). This rate for recognized syndromes and multiply malformed with CHD was 51.9% (54/104 cases) and 48.6% (137/282 cases), respectively; 150/229 Down syndrome (65.8%) were

  20. Prenatal sonographic diagnosis of duplicated middle cerebral artery.

    PubMed

    Ventura, Walter; Nazario, Conny; Ingar, Jaime; Huertas, Erasmo; Limay, Antonio; Castillo, Walter

    2010-01-01

    We report a fetus scanned by color Doppler ultrasound at 37 weeks for suspicion of growth restriction with an extremely rare variation of duplicated middle cerebral artery. Three-dimensional color power Doppler and tomographic ultrasound imaging enhanced our incidental finding. PMID:20523030

  1. 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

  2. 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

  3. 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

  4. Prevalence of sexually transmitted diseases and human immunodeficiency virus among women attending prenatal services in Apia, Samoa.

    PubMed

    Sullivan, E A; Koro, Semo; Tabrizi, S; Kaldor, J; Poumerol, G; Chen, S; O'Leary, M; Garland, S M

    2004-02-01

    There is no routine prenatal screening for sexually transmitted diseases (STDs) and human immunodeficiency virus (HIV) in pregnancy in Samoa. Testing for chlamydial infection is not available. To gather information on pregnant women, a prevalence survey was conducted in Apia, Samoa, utilizing two prenatal hospital clinics. Pregnant (n=427) women were tested for Neisseria gonorrhoeae, Chlamydia trachomatis and Trichomonas vaginalis using polymerase chain reaction (PCR), and for syphilis (n=441) by rapid plasmid reagin (RPR) and HIV (n=441) by enzyme-linked immunosorbent assay (ELISA). Results were: chlamydia 30.9% (132); trichomoniasis 20.8%; gonorrhoea 3.3%; syphilis 0.5%; and HIV 0%. Overall 42.7% had at least 1 STD. Young women aged <25 years were three times more likely to have a STD than older women (odds ratio=3.0, 95% confidence intervals 2.0, 4.5). The lack of inexpensive, reliable field diagnostics remain a barrier to sustainable STD control programmes for pregnant women living in developing countries. PMID:15006074

  5. Prenatal hydronephrosis.

    PubMed

    Fefer, Sergio; Ellsworth, Pamela

    2006-06-01

    Hydronephrosis is the most common genitourinary tract anomaly identified on prenatal ultrasound studies. Ureteropelvic junction obstruction accounts for approximately 50% of the cases of prenatally detected hydronephrosis. Postnatal evaluation allows for the identification of the cause and further management. Rarely, in utero intervention may be performed for severe oligohydramnios associated with hydronephrosis. Prenatal consultation with a pediatric urologist is useful in decreasing parental anxiety and facilitating postnatal management. PMID:16716789

  6. Effects of prenatal exposure to perfluoroalkyl acids on prevalence ofallergic diseases among 4-year-old children.

    PubMed

    Goudarzi, Houman; Miyashita, Chihiro; Okada, Emiko; Kashino, Ikuko; Kobayashi, Sumitaka; Chen, Chi-Jen; Ito, Sachiko; Araki, Atsuko; Matsuura, Hideyuki; Ito, Yoichi M; Kishi, Reiko

    2016-09-01

    Perfluoroalkyl acids (PFAAs) are ubiquitous chemicals extremely resistant and widespread throughout the environment, frequently being detected in human blood samples. Animal studies have revealed that exposure to PFAAs results in immunotoxicity. However, the association between PFAAs, especially long-chain PFAAs, and allergies in humans is not well established. We examined whether prenatal exposure to PFAAs is associated with allergic diseases among 4-year-old children in a large-scale prospective birth cohort in Hokkaido, Japan. In total, 1558 mother-child pairs were included in this study and prenatal levels of eleven PFAAs were measured in maternal plasma samples obtained between 28 and 32weeks of pregnancy by using ultra-performance liquid chromatography-tandem mass spectrometry. Participant demographic and characteristic information were obtained from self-administered pre- and postnatal questionnaires and medical birth records. Infant allergies were assessed using the Japanese version of the International Study of Asthma and Allergies in Childhood (ISAAC) Phase Three questionnaire, which was administered 4years post-delivery. Symptoms included eczema, wheezing and rhinoconjunctivitis with a prevalence of 19.0%, 18.7%, and 5.4%, respectively. Associations of PFAA quartiles with allergic outcomes were examined using logistic models. Adjusted odds ratios (ORs) in the 4th quartile vs. 1st quartile (Q4 vs. Q1) for total allergic diseases (including at least one allergic outcome) significantly decreased for perfluorododecanoic acid (PFDoDa) (Q4 vs. Q1 OR: 0.621; 95% confidence interval (CI): 0.454, 0.847) and perfluorotridecanoic acid (PFTrDA) (Q4 vs. Q1 OR: 0.712; 95% CI: 0.524, 0.966) in all children. We obtained similar results when examining the association between PFAAs and eczema. The adjusted OR (Q4 vs. Q1) for wheezing in relation to higher maternal PFHxS levels was 0.728 (95% CI: 0.497, 1.06) in all children. In conclusion, prenatal exposure to long

  7. First-trimester prenatal diagnosis of mucolipidosis II (I-cell disease) by chorionic biopsy.

    PubMed Central

    Poenaru, L; Castelnau, L; Dumez, Y; Thepot, F

    1984-01-01

    We investigated the possibility of mucolipidosis type II (ML II) prenatal diagnosis by lysosomal enzyme determination on trophoblast biopsy obtained at 10 weeks of gestation in two pregnancies at risk. Diagnosis of ML II was made in both cases on fresh chorionic villi on the basis of depressed beta-galactosidase activity, and after abortion, the diagnosis was confirmed on fresh fetal tissues and on cells cultured from trophoblast and fetuses. We stress the importance of culturing cells from the trophoblast biopsy to ensure a reliable diagnosis. PMID:6440435

  8. Sonographic measurement of gallbladder volume.

    PubMed

    Dodds, W J; Groh, W J; Darweesh, R M; Lawson, T L; Kishk, S M; Kern, M K

    1985-11-01

    Sonographic images of the gallbladder enable satisfactory approximation of gallbladder volume using the sum-of-cylinders method. The sum-of-cylinder measurements, however, are moderately cumbersome and time consuming to perform. In this investigation, in vitro and in vivo testing was done to determine that a simple ellipsoid method applied to sonographic gallbladder images yields reasonable volume approximations that are comparable to the volumes calculated by the sum-of-cylinders method. Findings from a water-bath experiment showed that measurement of gallbladder volume by the ellipsoid method closely approximated the true volume with a mean difference of about 1.0 ml. The results of in vivo studies in five volunteers demonstrated that the gallbladder contracted substantially after a fatty meal and that volumes calculated by the ellipsoid and sum-of-cylinders methods were nearly identical. Thus, a simple ellipsoid method, requiring negligible time, may be used to approximate satisfactory gallbladder volume for clinical or investigative studies. PMID:3901703

  9. Prenatal Diagnosis of Persistent Left Superior Vena Cava and its Clinical Significance

    PubMed Central

    Esmer, Aytül Çorbacıoğlu; Yüksel, Atıl; Çalı, Halime; Özsürmeli, Mehmet; Ömeroğlu, Rukiye Eker; Kalelioğlu, İbrahim; Has, Recep

    2014-01-01

    Background: Persistent left superior vena cava (PLSVC) is a variant of systemic venous return which is observed in 0.3% of autopsies in the general population and in 4–8% of patients with congenital heart disease. Aims: To evaluate associated cardiac, extracardiac and chromosomal anomalies in prenatally diagnosed cases of PLSVC and to review their outcome. Study Design: Retrospective comparative study. Methods: The data of patients with a prenatal diagnosis of PLSVC between May 2008 and January 2013 were reviewed retrospectively. Results: Data of 31 cases were reviewed. Fifteen (48.4%) cases were associated with cardiac defects and 17 (54.8%) cases had associated extracardiac sonographic or postpartum findings. Two fetuses had karyotype anomalies. Outcome was significantly more favorable in cases not associated with cardiac defects in comparison to those associated with cardiac anomalies (84.6% vs. 33.3%, p=0.009). All cases with isolated PLSVC survived, while among the cases associated with extracardiac anomalies, with cardiac anomalies and with both extra-cardiac and cardiac anomalies, the survival rate was 75%, 50% and 22.2%, respectively. The most frequent group of cardiac anomalies associated with PLSVC was septal defects and VSD was the most common heart defect individually, being observed in nine fetuses. Conclusion: Prenatally diagnosed PLSVC is associated with cardiac and extracardiac anomalies in the majority of cases. Outcome is significantly worse if PLSVC is associated with a cardiac defect, and the prognosis is excellent in isolated cases. PMID:25207167

  10. Sonographic spectrum of placental abruption.

    PubMed

    Nyberg, D A; Cyr, D R; Mack, L A; Wilson, D A; Shuman, W P

    1987-01-01

    Fifty-seven cases of placental abruption detected by sonography were retrospectively reviewed. The location of hemorrhage was subchorionic in 46 cases (81%), retroplacental in nine cases (16%), and preplacental in two cases (4%). Subchorionic hematomas were more frequently shown in the 33 patients presenting before 20 menstrual weeks (91%) than in the 24 patients presenting after 20 weeks (67%). The echogenicity of hemorrhage depended on the time the sonogram was performed relative to the onset of symptoms: Acute hemorrhage was hyperechoic to isoechoic compared with the placenta, while resolving hematomas became hypoechoic within 1 week and sonolucent within 2 weeks. Acute hemorrhage was occasionally difficult to distinguish from the adjacent placenta. This occurred in five retroplacental hematomas that showed only an abnormally thick and heterogeneous placenta. Nine cases of placental abruption were initially confused with other mass lesions. Placental abruption causes a wide spectrum of sonographic findings that may be overlooked or misdiagnosed. PMID:3538831

  11. 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)

  12. 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. PMID:25632050

  13. Prenatal Tests

    MedlinePlus

    ... tests are considered routine — that is, almost all pregnant women receiving prenatal care get them. They include things like checking urine levels for protein, sugar, or signs of infection. Other non- routine tests are recommended only for ...

  14. An improved method for prenatal diagnosis of genetic diseases by analysis of amplified DNA sequences. Application to hemophilia A.

    PubMed

    Kogan, S C; Doherty, M; Gitschier, J

    1987-10-15

    We report the development of a rapid nonradioactive technique for the genetic prediction of human disease and its diagnostic application to hemophilia A. This method is based on enzymatic amplification of short segments of human genes associated with inherited disorders. A novel feature of the procedure is the use of a heat-stable DNA polymerase, which allows the repeated rounds of DNA synthesis to proceed at 63 degrees C. The high sequence specificity of the amplification reaction at this elevated temperature permits restriction-site polymorphisms, contained in the amplified samples, to be analyzed by visual inspection of their digestion products on polyacrylamide gels. By means of this method, we have performed carrier detection and prenatal diagnosis of hemophilia in two families with use of the factor VIII intragenic polymorphisms identified by the restriction enzymes BclI and XbaI. Predictions can be made directly from chorionic villi, without previous DNA extraction, and fetal sex can be determined by amplification of sequences specific for the Y chromosome. Specific amplification of genomic sequences with heat-stable DNA polymerase is applicable to the diagnosis of a wide variety of inherited disorders. These include diseases diagnosed by restriction-site variation, such as Duchenne's muscular dystrophy and sickle cell anemia, those due to a collection of known mutations, such as beta-thalassemia, and those due to gene deletion, such as alpha-thalassemia. PMID:3657865

  15. Subchorionic hemorrhage: sonographic diagnosis and clinical significance.

    PubMed

    Abu-Yousef, M M; Bleicher, J J; Williamson, R A; Weiner, C P

    1987-10-01

    Twenty-one pregnancies with sonographic evidence of subchorionic hemorrhage were evaluated clinically and sonographically. Clinical evaluation included maternal age, gravidity, parity, gestational age, presence of pain, presence and amount of bleeding, and pregnancy outcome. Sonographic evaluation included the relative and absolute size of the hematoma, its echogenicity and location in relation to the placenta, the presence of marginal placental abruption, and progress on follow-up examinations. The outcome of these pregnancies was unfavorable in 15 cases (71%) and correlated well with the relative and absolute size of the hematoma, severity of vaginal bleeding, change in hematoma size on follow-up examination, and presence of pain. There was no significant correlation between the outcome and the echogenicity of the hematoma, presence of placental margin elevation, gestational and maternal age, gravidity, or parity. All hematomas extended to the margin of the placenta. Subchorionic hemorrhage is a frequent cause of first and second trimester bleeding and has a grave prognosis. Familiarity with the varied sonographic appearances and meticulous sonographic examination with special attention to the placental margins can be helpful in the diagnosis. PMID:3307354

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

    PubMed

    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

  17. 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. PMID:24961627

  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. 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

  2. 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". PMID:24275070

  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. 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. PMID:8070072

  7. 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. PMID:26454118

  8. Sonographic evaluation of visceral and subcutaneous fat in obese children*

    PubMed Central

    Sakuno, Telma; Tomita, Letícia Mary; Tomita, Carolina Mywa; Giuliano, Isabela de Carlos Back; Ibagy, Amanda; Perin, Nilza Maria Medeiros; Poeta, Lisiane Schilling

    2014-01-01

    Objective To evaluate sonographic measurements of visceral and subcutaneous fat in children, and to investigate the usefulness of preperitoneal fat (PF) and the abdominal wall fat index (AFI) as parameters to determine visceral fat and presence of nonalcoholic fatty liver disease (NAFLD) in obese children. Materials and Methods A case-control study of a sample including 44 children (22 cases and 22 controls) matched by sex and age. The Student t test and the Fisher exact test were utilized in the descriptive and bivariate analysis. Results The sonographic parameters evaluated - subcutaneous cell tissue, PF and intraperitoneal fat, and NAFLD - presented high statistical association with body mass index. NAFLD was observed in eight obese patients (36.36%), and PF and AFI were the variables with highest statistical significance, with p < 0.0001. Conclusion Ultrasonography is useful tool in the differentiation and quantification of visceral and subcutaneous fat in children. The measures of PF and AFI are useful in the assessment of visceral fat and NAFLD in obese children. PMID:25741071

  9. The accuracy of 2D ultrasound prenatal sex determination

    PubMed Central

    Igbinedion, Blessing Ose-Emenim; Akhigbe, Theophilus Oriazo

    2012-01-01

    Background: Pregnant women have been curious about the sex of their unborn child. The advent of ultrasound, its application into medicine, and the revolutionary changes in its resolution and function has led to the ability to assign a sex to these unborn children, thereby allaying the anxiety of these women but with consequent emergent ethical, moral, psycho-social, and medico-legal issues. The objectives were to determine the accuracy of sonographic prenatal sex determination, perform binary classification test, and the impact it has, including mis-diagnosis. Materials and Methods: A prospective prenatal sonographic sex determination study on 205 consecutive consenting pregnant women aged 20-40 years in a private hospital in Benin between August 2010 and October 2011. Questionnaires were administered to these women before and after the scan and the women were told the sex of the fetuses and their feelings on the determined sex recorded. The sex at birth was confirmed and compared to the scan determined gender by their case note and telephone. Relevant discussions during the scan and later on were recorded on the questionnaires. The statistical package used was SPSS version 17 and binary classification tests were performed. Results: The sensitivity (98.2%) and binary classification components values of prenatal sex determination were high with the sensitivity of detecting a female higher than that of males. Two males were misdiagnosed as females. Most of the women were happy even when the sex differed from that which they desired. Conclusion: Prenatal sonographic sex determination has a high sensitivity index. Consequently we advocate its use prior to more invasive sex tests. PMID:23271849

  10. Prospective sonographic study of 3093 breast tumors.

    PubMed

    Chao, T C; Lo, Y F; Chen, S C; Chen, M F

    1999-05-01

    To evaluate the predictive ability of sonographic tumor characteristics to differentiate benign from malignant tumors, we examined 3093 breast tumors (2360 benign and 733 malignant tumors) with ultrasonography. The ratio of the longest dimension to the anteroposterior diameter of benign tumors was significantly larger than that of malignant tumors (1.88+/-0.1 versus 1.69+/-0.02, P < 0.0001). Shape, margins, echogenicity, internal echo pattern, retrotumor acoustic shadowing, compressibility, and microcalcification were significant factors in the logistic regression model. The sensitivity, specificity, positive predictive value, negative predictive value, and accuracy of breast sonography for malignancy were 86.1, 66.1, 44.1, 93.9, and 70.8%, respectively. Biopsy of the tumor for pathologic diagnosis is recommended if sonographic features are suggestive of malignancy. PMID:10327015

  11. Reproductive issues for adults with autosomal dominant polycystic kidney disease.

    PubMed

    Vora, Neeta; Perrone, Ronald; Bianchi, Diana W

    2008-02-01

    Autosomal dominant polycystic kidney disease (ADPKD) is a common disorder. However, the consequences of ADPKD on male and female reproductive health are not widely known. Several abnormalities are found in men with ADPKD, including necrospermia, immotile sperm, seminal vesicle cysts, and ejaculatory duct cysts. Female fertility is not affected. Affected women with ADPKD and normal renal function have a high rate of successful uncomplicated pregnancies. Pregnant women with ADPKD with compromised kidney function should be monitored carefully for the development of hypertension and preeclampsia. Their fetuses should be examined sonographically for signs of uteroplacental insufficiency, such as intrauterine growth restriction and oligohydramnios. The diagnosis of ADPKD should always be considered when prenatal sonographic findings of hyperechogenic enlarged kidneys are found. In this setting, a family history and renal sonogram of both parents is indicated. Sequencing of the PKD1 and PKD2 genes is available and can be used for both prenatal and preimplantation genetic diagnosis. We review in detail these topics to familiarize physicians taking care of patients with ADPKD with the reproductive issues that confront affected individuals. PMID:18215709

  12. Sonographic evaluation of the peripheral nerves in hereditary neuropathy with liability to pressure palsies: a case report.

    PubMed

    Kim, Se Hwa; Yang, Seung Nam; Yoon, Joon Shik; Park, Bum Jun

    2014-02-01

    Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal dominantly inherited disorder that affects peripheral nerves by repeated focal pressure. HNPP can be diagnosed by clinical findings, electrodiagnostic studies, histopathological features, and genetic analysis. Ultrasonography is increasingly used for the diagnosis of neuromuscular diseases; however, sonographic features of HNPP have not been clearly defined. We report the sonographic findings and comparative electrodiagnostic data in a 73-year-old woman with HNPP, confirmed by genetic analysis. The cross-sectional areas of peripheral nerves were enlarged at typical nerve entrapment sites, but enlargement at non-entrapment sites was uncommon. These sonographic features may be helpful for diagnosis of HNPP when electrodiagnostic studies are suspicious of HNPP and/or gene study is not compatible. PMID:24639934

  13. Sonographic Evaluation of the Peripheral Nerves in Hereditary Neuropathy With Liability to Pressure Palsies: A Case Report

    PubMed Central

    Kim, Se Hwa; Yoon, Joon Shik; Park, Bum Jun

    2014-01-01

    Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal dominantly inherited disorder that affects peripheral nerves by repeated focal pressure. HNPP can be diagnosed by clinical findings, electrodiagnostic studies, histopathological features, and genetic analysis. Ultrasonography is increasingly used for the diagnosis of neuromuscular diseases; however, sonographic features of HNPP have not been clearly defined. We report the sonographic findings and comparative electrodiagnostic data in a 73-year-old woman with HNPP, confirmed by genetic analysis. The cross-sectional areas of peripheral nerves were enlarged at typical nerve entrapment sites, but enlargement at non-entrapment sites was uncommon. These sonographic features may be helpful for diagnosis of HNPP when electrodiagnostic studies are suspicious of HNPP and/or gene study is not compatible. PMID:24639934

  14. Promises and pitfalls of first trimester sonographic markers in the detection of fetal aneuploidy.

    PubMed

    Borrell, Antoni

    2009-01-01

    First trimester sonographic markers are the only markers achieving detection rates above 50% in the prenatal detection of fetal aneuploidy. Although potentially they are the best markers, some concerns have arisen about its clinical application. Pitfalls may be due to inability to examine the markers, incorrect assessment, or incorrect interpretation of the findings. Markers may be unable to be examined due to maternal (maternal body habitus, previous surgery) or fetal reasons (incompatible fetal position or fetal movements). Causes of incorrect interpretation may be insufficient image magnification, incorrect caliper placement (nuchal translucency), incorrect insonation angle (nasal bone), venous contamination (ductus venosus), or arterial contamination (tricuspid regurgitation), among others. Venous contamination in ductus venosus waveforms may mimic an abnormal blood flow when it is normal, and the opposite can also occur. Finally, incorrect interpretation of a substantially increased nuchal translucency may lead to a false impression of an ominous fetal prognosis or may be confounded with a cystic hygroma. PMID:19097037

  15. Sonographic findings in a fetus with megacystis-microcolon-intestinal hypoperistalsis syndrome.

    PubMed

    Chen, C P; Wang, T Y; Chuang, C Y

    1998-05-01

    We describe the perinatal findings in a female fetus with megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS). Prenatal sonography performed during 18-21 weeks' gestation showed a normal amount of amniotic fluid, but the fetus was seen to have a persistently distended stomach, a hugely distended bladder, and bilateral dilated renal calyces. Genetic analysis of amniotic fluid revealed a 46,XX karyotype. The pregnancy was terminated at 22 weeks' gestation. At necropsy, the fetus was found to have prune-belly syndrome, gastric dilatation, pronounced megacystis, bilateral hydronephrosis and megaureters, short bowel, microileum, microcolon, and malrotation of the intestines. This fetus showed the typical clinical and sonographic features of MMIHS, as well as the rare antenatal finding of persistent gastric distention. PMID:9572387

  16. Safe, accurate, prenatal diagnosis of thanatophoric dysplasia using ultrasound and free fetal DNA

    PubMed Central

    Chitty, Lyn S; Khalil, Asma; Barrett, Angela N; Pajkrt, Eva; Griffin, David R; Cole, Tim J

    2013-01-01

    Objective To improve the prenatal diagnosis of thanatophoric dysplasia by defining the change in fetal size across gestation and the frequency of sonographic features, and developing non-invasive molecular genetic diagnosis based on cell-free fetal DNA (cffDNA) in maternal plasma. Methods Fetuses with a confirmed diagnosis of thanatophoric dysplasia were ascertained, records reviewed, sonographic features and measurements determined. Charts of fetal size were then constructed using the LMS (lambda-mu-sigma) method and compared with charts used in normal pregnancies and those complicated by achondroplasia. Cases in this cohort referred to our Regional Genetics Laboratory for molecular diagnosis using cffDNA were identified and results reviewed. Results Forty-two cases were scanned in our units. Commonly reported sonographic features were very short and sometimes bowed femora, frontal bossing, cloverleaf skull, short fingers, a small chest and polyhydramnios. Limb shortening was obvious from as early as 13 weeks' gestation, with minimal growth after 20 weeks. Analysis of cffDNA in three of these pregnancies confirmed the presence of the c.742C>CT (p.Arg248Cys) or the c.1948A>AG (p.Lys650Glu) mutation in the fibroblast growth factor receptor 3 gene. Conclusion These data should improve the accuracy of the sonographic diagnosis of thanatophoric dysplasia and have implications for reliable and safe targeted molecular confirmation using cffDNA. © 2013 The Authors. Prenatal Diagnosis published by John Wiley & Sons Ltd. PMID:23408600

  17. Sonographic and Endoscopic Findings in Cocaine-Induced Ischemic Colitis

    PubMed Central

    Leth, Thomas; Wilkens, Rune; Bonderup, Ole K.

    2015-01-01

    Cocaine-induced ischemic colitis is a recognized entity. The diagnosis is based on clinical and endoscopic findings. However, diagnostic imaging is helpful in the evaluation of abdominal symptoms and prior studies have suggested specific sonographic findings in ischemic colitis. We report sonographic and endoscopic images along with abdominal computed tomography in a case of cocaine-induced ischemic colitis. PMID:26798523

  18. 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. PMID:25307798

  19. Prenatal ultrasound - slideshow

    MedlinePlus

    ... page: //medlineplus.gov/ency/presentations/100197.htm Prenatal ultrasound - series To use the sharing features on this ... Editorial team. Related MedlinePlus Health Topics Prenatal Testing Ultrasound A.D.A.M., Inc. is accredited by ...

  20. Optimal Prenatal Care

    PubMed Central

    Reynolds, J. L.

    1982-01-01

    Optimal prenatal care begins before conception, when health habits can be reviewed. The most important task of the initial prenatal assessment is establishing dates. Ongoing assessments should emphasize measurement of symphisis to fundus height, maternal nutrition and screening, especially for urinary tract infection and gestational diabetes. Prenatal care is an excellent opportunity for patient education and involvement of the family. Good prenatal care is today's best health investment. PMID:21286515

  1. 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.

  2. 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

  3. 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

  4. Intrapartum sonographic imaging of fetal head asynclitism.

    PubMed

    Ghi, T; Youssef, A; Pilu, G; Malvasi, A; Ragusa, A

    2012-02-01

    Anterior asynclitism was suspected on digital examination of a laboring woman with late arrest of dilatation and no evidence of fetal head progression. Clinical examination revealed a fixed non-engaged fetal head (station −1), with a transverse posterior sagittal suture. A static three-dimensional volume was obtained by translabial ultrasound, offline analysis of which confirmed the clinical diagnosis of anterior asynclitism. Owing to the posterior twisting of the head towards the sacrum, the midline echo could only be obtained by cutting the volume with an oblique line, the direction of which was not perpendicular to the pubis as expected in cases of synclitic head. The sonographic appearance of the midline echo approaching the sacrum in a non-engaged transverse fetal head strongly supports the clinical suspicion of anterior asynclitism. PMID:21523842

  5. Sonographic probing of laser filaments in air.

    PubMed

    Yu, Jin; Mondelain, Didier; Kasparian, Jérôme; Salmon, Estelle; Geffroy, Sylvain; Favre, Catherine; Boutou, Véronique; Wolf, Jean-Pierre

    2003-12-20

    The acoustic wave emitted from the plasma channel associated with a filament induced by a femtosecond laser pulse in air was detected with a microphone. This sonographic detection provides a new method to determine the length and the spatial profile of the free-electron density of a filament. The acoustic wave is emitted owing to the expansion of the gas in the filament, which is heated through collisions with high-energy photoelectrons generated by multiphoton ionization. Compared with other methods, the acoustic detection is simpler, more sensitive, and with higher spatial resolution, making it suitable for field measurements over kilometer-range distances or laboratory-scale studies on the fine structure of a filament. PMID:14717285

  6. 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

  7. Efficacy of prenatal ultrasonography in diagnosing urogenital developmental anomalies in newborns

    PubMed Central

    2014-01-01

    Background Showing a prevalence rate of 0.5-0.8%, urogenital malformations discovered in newborns is regarded relatively common. The aim of this study is to examine the efficacy of ultrasound diagnostics in detecting developmental disorders in the urogenital system. Methods We have processed the prenatal sonographic and postnatal clinical details of 175 urogenital abnormalities in 140 newborns delivered with urogenital malformation according to EUROCAT recommendations over a 5-year period between 2006 and 2010. The patients were divided into three groups; Group 1: prenatal sonography and postnatal examinations yielded fully identical results. Group 2: postnatally detected urogenital changes were partially discovered in prenatal investigations. Group 3: prenatal sonography failed to detect the urogenital malformation identified in postnatal examinations. Urogenital changes representing part of certain multiple disorders associated with chromosomal aberration were investigated separately. Results Prenatal sonographic diagnosis and postnatal results completely coincided in 45%, i.e. 63/140 of cases in newborns delivered with urogenital developmental disorders. In 34/140 cases (24%), discovery was partial, while in 43/140 patients (31%), no urogenital malformation was detected prenatally. No associated malformations were observed in 108 cases, in 57 of which (53%), the results of prenatal ultrasonography and postnatal examinations showed complete coincidence. Prenatally, urogenital changes were found in 11 patients (10%), whereas no urogenital disorders were diagnosed in 40 cases (37%) by investigations prior to birth. Urogenital disorders were found to represent part of multiple malformations in a total of 28 cases as follows: prenatal diagnosis of urogenital malformation and the findings of postnatal examinations completely coincided in three patients (11%), partial coincidence was found in 22 newborns (79%) and in another three patients (11%), the disorder was not

  8. 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

  9. The sonographic Murphy's sign: Another perspective

    SciTech Connect

    Colletti, P.; Ralls, P.W.; Lapin, S.A.; Chen, D.C.P.; Siegel, M.E.; Halls, J.

    1984-01-01

    Cholescintigraphy (CS) is currently the most accurate test to detect acute cholecystitis (AC). The authors evaluate the sonographic Murphy's sign (M) along with detection of gallstones (S) in AC. Real time ultrasound (RT) with attention to M and S was performed in 194 patients with suspected AC. CS with Tc-99m disofenin carried out for 4 hours was done in 70 patients. Surgical and clinical results were compiled. Liberal criteria for AC was used. Of patients with the combination M and S, 94% had AC (84/89). Of patients without the M or S, 96% did to have AC (71/74). Comparison results in RT and CS are given. The positive predictive value (PV) of M-S was 92% (22/24) and of CS was 91% (3l/34). The negative PV of -M-S was 88% (23/26) and of CS was 88% (32/36). Only 36% (4/11) of cases with +M and -S had AC. The authors conclude that the combinations +M+S or -M-S are reliable as +CS and -CS respectively. An algorithm using RT to screen for AC is proposed in which +M+S cases are positive and -M-S cases are negative. +M-S and -M+S cases would require CS. This would rapidly triage 70% of cases with 93% accuracy. The cost of RT would need to be at least 1/3 less than CS for this to be cost effective.

  10. Sonographic findings of axillary masses: what can be imaged in this space?

    PubMed

    Park, Ji Eun; Sohn, Yu-Mee; Kim, Eun-Kyung

    2013-07-01

    The diagnosis of axillary masses can be challenging because various tumors can develop in parts of the axilla other than lymph nodes, even though we frequently encounter axillary masses in daily practice. These lesions include soft tissue masses associated with nontumorous conditions (accessory breast tissue and chronic granulomatous inflammation) and benign and malignant tumorous conditions (lipomas, epidermal inclusion cysts, lymphangiomas, fibroadenomas, schwannomas, malignant neuroendocrine tumors, and lymph node-associated diseases). In this pictorial essay, we display commonly encountered sonographic findings of various axillary lesions to assist in the differential diagnosis of axillary masses. PMID:23804349

  11. Clinically applicable procedure for gene delivery to fetal gut by ultrasound-guided gastric injection: toward prenatal prevention of early-onset intestinal diseases.

    PubMed

    David, A L; Peebles, D M; Gregory, L; Waddington, S N; Themis, M; Weisz, B; Ruthe, A; Lawrence, L; Cook, T; Rodeck, C H; Coutelle, C

    2006-07-01

    Targeting gene therapy vectors to the fetal intestinal tract could provide a novel means toward prevention of the early postnatal intestinal pathology of cystic fibrosis and other conditions, such as congenital enteropathy, that cause intestinal failure. Among these conditions, cystic fibrosis is by far the most common lethal genetic disease. It is caused by a functional absence or deficiency of the cystic fibrosis transmembrane conductance regulator and manifests in the gut as meconium ileus. Prenatal treatment of genetic disease may avoid early-onset tissue damage and immune sensitization, and may target cells that are less accessible in the adult. We investigated gene transfer to the fetal gut, using a minimally invasive injection technique. First-generation replication-deficient adenoviral vectors encoding the beta-galactosidase gene and transduction-enhancing agents were injected into the stomach of early-gestation fetal sheep (n = 8, 60 days of gestation; term, 145 days) under ultrasound guidance. Reporter gene expression was observed 2 days after injection in the villi of the gastrointestinal epithelia after 5-bromo-4-chloro-3-indolyl-beta-D-galactopyranoside staining and beta-galactosidase immunohistochemistry of fetal tissues. Expression of beta-galactosidase, as measured by enzyme-linked immunosorbent assay, was enhanced after pretreatment of the fetal gut with sodium caprate, which opens tight junctions, and after adenovirus complexation with DEAE-dextran, which confers a positive charge to the virus. Instillation of the fluorocarbon perflubron after virus delivery resulted in tissue transduction from the fetal stomach to the colon. Using a clinically relevant technique, we have demonstrated widespread gene transfer to the fetal gastrointestinal epithelia. PMID:16839275

  12. [Use of 4-methylumbelliferryl-alpha-L-iduronide and 4-trifluoromethylumbelliferryl-alpha-L-iduronide for detecting alpha-L-iduronidase deficiencies in human tissue and for rapid prenatal diagnosis of Hurler disease].

    PubMed

    Tsvetkova, I V; Karpova, E A; Voznyĭ, Ia V; Zolotukhina, T V; Biriukov, V B; Semiachkina, A N

    1991-01-01

    Activity of alpha-L-iduronidase was studied in leukocytes of healthy persons, of patients with Hurler disease and of heterozygous carriers of the disease where 4-methylumbelliferyl-alpha-L-iduronide and 4-trifluoromethylumbelliferyl-alpha-L-iduronide were used as substrates. 4-Trifluoromethylumbelliferyl-alpha-L-iduronide proved to be also a specific substrate of alpha-L-iduronidase and enabled to detect the enzyme deficiency in patients with Hurler disease as well as a decrease of the enzymatic activity in heterozygous carriers of the disease. Using these two substrates prenatal diagnosis of Hurler disease was carried out in fetus which exhibited absence of the enzymatic activity in cell culture from amniotic fluid. The diagnosis was corroborated after analysis of alpha-L-iduronidase activity in liver and kidney tissues of the fetus. 4-Trifluoromethylumbelliferyl-alpha-L-iduronide was very effective in express detection of alpha-L-iduronidase deficiency immediately in tissue slices as well as in placenta which is of importance in prenatal diagnosis of Hurler disease. PMID:1907053

  13. A systematic review with meta-analysis: the common sonographic characteristics of adenomyosis

    PubMed Central

    2014-01-01

    Adenomyosis is a common debilitating gynaecological disease. Transvaginal sonography (TVS) has been shown to be capable of diagnosing adenomyosis with an acceptable degree of accuracy. However, the reported appearances of adenomyosis on TVS are numerous and there is no consensus in the literature as to which image characteristics are unequivocally diagnostic; clarification would assist the sonographer in confidently providing a diagnosis. Following a thorough search of the electronic databases Embase and Medline, nine articles assessing the diagnostic accuracy of the sonographic features of adenomyosis on TVS against a gold standard reference test (histology post hysterectomy), using sensitivity and specificity, were selected for inclusion. The methodological quality of each of the nine included articles was assessed using a valid and reliable checklist tool. Four articles were considered suitable for inclusion in meta-analysis, which was facilitated by Meta-DiSc (Clinical Biostatistics Unit, Ramón y Cajal Hospital, Madrid, Spain). Meta-analysis showed that the heterogeneity between the studies was too great to allow statistical pooling of data. There was a wide between-study variation in the proficiency of six well-documented ultrasound characteristics of adenomyosis to correctly identify the disease, despite an apparent similarity in the studies’ populations, interventions and outcomes. This systematic review has been unable to draw a concise conclusion about which ultrasound image characteristics are most reliable in the correct diagnosis of adenomyosis. Further research is required into the sonographic features of adenomyosis with much larger study groups to attempt to establish those features that could enhance the reliability of ultrasound image interpretation.

  14. Branching enzyme activity of cultured amniocytes and chorionic villi: prenatal testing for type IV glycogen storage disease.

    PubMed Central

    Brown, B I; Brown, D H

    1989-01-01

    Although type IV glycogen storage disease (Andersen disease; McKusick 23250) is considered to be a rare, autosomally recessive disorder, of the more than 600 patients with glycogenosis identified in our laboratory by enzymatic assays, 6% have been shown to be deficient in the glycogen branching enzyme. Most of the 38 patients with type IV glycogen storage disease who are known to us have succumbed at a very early age, with the exception of one male teenager, an apparently healthy 7-year-old male, and several 5-year-old patients. Fourteen pregnancies at risk for branching enzyme deficiency have been monitored using cultured amniotic fluid cells, and four additional pregnancies have been screened using cultured chorionic villi. Essentially no branching enzyme activity was detectable in eight samples (amniocytes); activities within the control range were found in five samples (three amniocyte and two chorionic villi samples); and five samples appeared to have been derived from carriers. In two of the cases lacking branching enzyme activity, in which the pregnancies were terminated and fibroblasts were successfully cultured from the aborted fetuses, no branching enzyme activity was found. Another fetus, which was predicted by antenatal assay to be affected, was carried to term. Skin fibroblasts from this baby were deficient in branching enzyme. Pregnancies at risk for glycogen storage disease due to the deficiency of branching enzyme can be successfully monitored using either cultured chorionic villi or amniocytes. PMID:2521770

  15. Use of 4-trifluoromethylumbelliferyl-alpha-L-iduronide as a new substrate for detection of alpha-L-iduronidase deficiency in human tissues and for rapid prenatal diagnosis of Hurler disease.

    PubMed

    Tsvetkova, I V; Karpova, E A; Voznyi, Y V; Zolotukhina, T V; Biryukov, V V; Semyachkina, A N

    1991-01-01

    Results are presented of alpha-L-iduronidase assays in the leukocytes of normal individuals, patients with Hurler disease and heterozygous carriers. The assays were carried out using 4-methylumbelliferyl-alpha-L-iduronide and 4-trifluoromethylumbelliferyl-alpha-L-iduronide as substrates. It was shown that 4-trifluoromethylumbelliferyl-alpha-L-iduronide, along with the commonly used 4-methylumbelliferyl-alpha-L-iduronide, can serve as a specific substrate for alpha-L-iduronidase and is therefore suitable for demonstrating the enzyme deficiency in patients with Hurler disease, as well as the decrease of enzyme activity in heterozygous disease carriers. Using the two substrates a prenatal diagnosis of Hurler disease in a fetus was made on the basis of the lack of enzyme activity in amniotic fluid cell cultures. The diagnosis was confirmed by the results of alpha-L-iduronidase activity assay in fetal liver and kidney. It was found that 4-trifluoromethylumbelliferyl-alpha-L-iduronide is highly efficient for the rapid detection of alpha-L-iduronidase deficiency directly in pieces of tissues and in placenta, which is important for the prenatal diagnosis of Hurler disease. PMID:1909400

  16. Objective assessment of sonographic quality I: task information.

    PubMed

    Nguyen, Nghia Q; Abbey, Craig K; Insana, Michael F

    2013-04-01

    In this paper, we explore relationships between the performance of the ideal observer and information-based measures of class separability in the context of sonographic breast-lesion diagnosis. This investigation was motivated by a finding that, since the test statistic of the ideal observer in sonography is a quadratic function of the echo data, it is not generally normally distributed. We found for some types of boundary discrimination tasks often required for sonographic lesion diagnosis, the deviation of the test statistic from a normal distribution can be significant. Hence the usual relationships between performance and information metrics become uncertain. Using Monte Carlo studies involving five common sonographic lesion-discrimination tasks, we found in each case that the detectability index d(A)(2) from receiver operating characteristic analysis was well approximated by the Kullback-Leibler divergence J, a measure of clinical task information available from the recorded radio-frequency echo data. However, the lesion signal-to-noise ratio, SNR(I)(2), calculated from moments of the ideal observer test statistic, consistently underestimates d(A)(2) for high-contrast boundary discrimination tasks. Thus, in a companion paper, we established a relationship between image-quality properties of the imaging system and J in order to predict ideal performance. These relationships provide a rigorous basis for sonographic instrument evaluation and design. PMID:23247846

  17. 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…

  18. 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

  19. Understanding Prenatal Tests

    MedlinePlus

    ... several things, particularly the risk of Down Syndrome. Rh Incompatibility This test determines whether the mother and ... at the first prenatal visit. If there is Rh incompatibility, treatments can help prevent later complications. Ultrasound ...

  20. Errors in prenatal diagnosis.

    PubMed

    Anumba, Dilly O C

    2013-08-01

    Prenatal screening and diagnosis are integral to antenatal care worldwide. Prospective parents are offered screening for common fetal chromosomal and structural congenital malformations. In most developed countries, prenatal screening is routinely offered in a package that includes ultrasound scan of the fetus and the assay in maternal blood of biochemical markers of aneuploidy. Mistakes can arise at any point of the care pathway for fetal screening and diagnosis, and may involve individual or corporate systemic or latent errors. Special clinical circumstances, such as maternal size, fetal position, and multiple pregnancy, contribute to the complexities of prenatal diagnosis and to the chance of error. Clinical interventions may lead to adverse outcomes not caused by operator error. In this review I discuss the scope of the errors in prenatal diagnosis, and highlight strategies for their prevention and diagnosis, as well as identify areas for further research and study to enhance patient safety. PMID:23725900

  1. Prenatal pharmacogenomics: a promising area for research.

    PubMed

    Dorfman, E H; Cheng, E Y; Hebert, M F; Thummel, K E; Burke, W

    2016-08-01

    Clinical applications of prenatal genetic screening currently focus on detection of aneuploidy and other genetic diseases in the developing fetus. Growing evidence suggests that the fetal genome may also be informative about fetal exposures through contributions to placental transport as well as placental and fetal metabolism. Possible clinical applications of prenatal pharmacogenomic screening include prospective optimization of medication selection and dosage, as well as retrospective assessment of whether a fetus was previously exposed to significant risk. Newly available noninvasive methods of prenatal genetic screening mean that relevant fetal genotypes could be made available to obstetricians for use in management of a current pregnancy. This promising area for research merits more attention than it has thus far received.The Pharmacogenomics Journal advance online publication, 10 May 2016; doi:10.1038/tpj.2016.33. PMID:27168097

  2. 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

  3. 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

  4. Evaluation of the patellar tendon in transtibial amputees: a preliminary sonographic study.

    PubMed

    Ozçakar, Levent; Kömürcü, Erkam; Safaz, Ismail; Göktepe, Ahmet Salim; Yazicioğlu, Kamil

    2009-12-01

    This study aimed to provide sonographic imaging of the patellar tendon (PT) - one of the main weight bearing structures for prosthetic use - in transtibial amputees. Thirteen males, who had been under follow-up for unilateral traumatic transtibial amputations, were enrolled. After physical examination of the limb, pain was evaluated by visual analogue scale and Leeds Assessment of Neuropathic Symptoms and Signs. Sonographic evaluations were performed by using a linear array probe (Aloka UST-5524-7.5 MHz) on both sides. Measurements pertaining to the contralateral limbs were taken as controls. In three subjects (23.1%), two with a silicone liner and one with a pelite liner, cortical irregularities were detected at the tibial insertion of the PT on the amputated sides. PTs were found to be thicker on the amputated sides when compared with those of the contralateral sides (p = 0.03), and this increase in thickness correlated with disease duration (r = 0.67, p = 0.01). Overall, our preliminary results imply that after transtibial amputation, PTs of the amputated sides tend to become thicker by time. These findings need to be complemented with future studies. In this regard, sonography seems to be promising for imaging the soft tissue problems of the stump. PMID:19961293

  5. 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 ...

  6. 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)

  7. Why Take a Prenatal Supplement?

    MedlinePlus

    ... Newsroom Dietary Guidelines Communicator’s Guide Why take a prenatal supplement? You are here Home / Audience / Adults / Moms/ Moms-to-Be / Dietary Supplements Why take a prenatal supplement? Print Share During pregnancy, your needs increase ...

  8. 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 ...

  9. Noninvasive prenatal diagnosis.

    PubMed

    Cheng, Wei-Lun; Hsiao, Ching-Hua; Tseng, Hua-Wei; Lee, Tai-Ping

    2015-08-01

    Prenatal examination plays an important role in present medical diagnosis. It provides information on fetal health status as well as the diagnosis of fetal treatment feasibility. The diagnosis can provide peace of mind for the perspective mother. Timely pregnancy termination diagnosis can also be determined if required. Amniocentesis and chorionic villus sampling are two widely used invasive prenatal diagnostic procedures. To obtain complete fetal genetic information and avoid endangering the fetus, noninvasive prenatal diagnosis has become the vital goal of prenatal diagnosis. However, the development of a high-efficiency separation technology is required to obtain the scarce fetal cells from maternal circulation. In recent years, the rapid development of microfluidic systems has provided an effective method for fetal cell separation. Advantages such as rapid analysis of small samples, low cost, and various designs, greatly enhance the efficiency and convenience of using microfluidic systems for cell separation. In addition, microfluidic disks can be fully automated for high throughput of rare cell selection from blood samples. Therefore, the development of microfluidic applications in noninvasive prenatal diagnosis is unlimited. PMID:26384048

  10. Sonographer registration in the United Kingdom – a review of the current situation

    PubMed Central

    Paterson, Audrey

    2013-01-01

    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.

  11. Prenatal Profile of Cornelia de Lange Syndrome (CdLS): A Review of 53 Pregnancies

    PubMed Central

    Clark, Dinah M.; Sherer, Ilana; Deardorff, Matthew A.; Byrne, Janice L.B.; Loomes, Kathleen M.; Nowaczyk, Malgorzata J.M.; Jackson, Laird G.; Krantz, Ian D.

    2012-01-01

    Cornelia de Lange Syndrome (CdLS) is a multisystem developmental disorder characterized by growth retardation, cognitive impairment, external and internal structural malformations, and characteristic facial features. Currently, there are no definitive prenatal screening measures that lead to the diagnosis of CdLS. In this study, documented prenatal findings in CdLS syndrome were analyzed towards the development of a prenatal profile predictive of CdLS. We reviewed 53 cases of CdLS (29 previously reported and 24 unreported) in which prenatal observations/findings were available. The review of these cases revealed a pattern of sonographic findings, including obvious associated structural defects, growth restriction, as well as a more subtle, but strikingly characteristic, facial profile, suggestive of a recognizable prenatal ultrasonographic profile for CdLS. In addition the maternal serum marker, PAPP-A, may be reduced and fetal nuchal translucency may be increased in some pregnancies when measured at an appropriate gestational age. In conclusion, CdLS can be prenatally diagnosed or readily ruled out in a family with a known mutation in a CdLS gene. The characteristic ultrasonographic profile may allow for prenatal diagnosis of CdLS in 1) subsequent pregnancies to a couple with a prior child with CdLS in whom a mutation has not been identified or 2) when there are unexplained pregnancy signs of fetal abnormality such as oligo- or polyhydramnios, a low maternal serum PAPP-A level and/or increased nuchal translucency, fetal growth retardation, or structural anomalies consistent with CdLS. PMID:22740382

  12. Sonographic and MR features of puerperal uterine inversion.

    PubMed

    Thakur, Shruti; Sharma, Sanjiv; Jhobta, Anupam; Aggarwal, Neeti; Thakur, Charu S

    2014-06-01

    Puerperal uterine inversion is a rare and potentially life-threatening complication of a mismanaged third stage of labour. Early diagnosis is mandatory for proper management of the patient. Complete uterine inversion is a clinical diagnosis. However, incomplete uterine inversion is difficult to identify and warrants further workup. Sonographic evaluation, although a bedside procedure, may be confusing. The conspicuity of findings is much greater on MR examination than on ultrasound. Only a few diagnostic imaging findings in uterine inversion have been described in previous reports. We present the case of a 26-year-old woman who had a full-term vaginal delivery and presented after 20 days with acute urinary retention and mild vaginal bleeding. She was diagnosed as a case of neglected subacute incomplete uterine inversion. Both greyscale and Doppler sonographic and MR features of the case are described with an emphasis on better delineation of uterine and adnexal anatomy on MR imaging. PMID:24619161

  13. 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.

  14. Sonographic findings of an ovarian serous surface papillary borderline tumor.

    PubMed

    Kwon, Yohan; Park, Sung Bin; Lee, Jong Beum; Park, Hyun Jeong

    2013-01-01

    Sonographic findings of a serous surface papillary borderline tumor of the ovary have rarely been reported in the English literature. Here, we describe a case of serous surface papillary borderline tumor, which was depicted on gray-scale and Doppler ultrasonography as smoothly lobulated and polypoid heterogeneous echoic bilateral adnexal masses encased or surrounded by what was presumed to be normal-appearing ovarian follicles with increased vascular flow. PMID:23938140

  15. 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.

  16. 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

  17. 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…

  18. 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

  19. 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

  20. 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…

  1. Sonographic and sonoelastographic findings of a rarely seen soft tissue tumor: eccrine spiradenoma.

    PubMed

    Balaban, Mehtap; Idilman, Ilkay S; Unal, Ozlem; Dumlu, Ersin Gurkan; Yazgan, Aylin; Ipek, Ali

    2015-10-01

    Eccrine spiradenoma is a rare benign tumor originating from sweat glands. Its sonographic characteristics have been described in only a few reports, and there is no such report available that describes sonoelastographic findings of this tumor. In this case report, we aimed to define the sonographic and sonoelastographic findings of a benign eccrine spiradenoma. PMID:26576987

  2. 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…

  3. Predicting Student Performance in Sonographic Scanning Using Spatial Ability as an Ability Determinent of Skill Acquisition

    ERIC Educational Resources Information Center

    Clem, Douglas Wayne

    2012-01-01

    Spatial ability refers to an individual's capacity to visualize and mentally manipulate three dimensional objects. Since sonographers manually manipulate 2D and 3D sonographic images to generate multi-viewed, logical, sequential renderings of an anatomical structure, it can be assumed that spatial ability is central to the perception and…

  4. Lymphoma of the spermatic cord: sonographic appearance.

    PubMed

    Bertolotto, Michele; Borsato, Antonio; Derchi, Lorenzo E

    2014-10-01

    Primary lymphoma of the spermatic cord is a rare disease accounting for about 1.6% of primary spermatic cord tumors. We hereby present a new case in which color Doppler ultrasound (US), contrast-enhanced US, and MRI suggested a specific diagnosis that was subsequently confirmed pathologically. Color Doppler US revealed mostly hypoechoic, slighly hypervascular tissue surrounding the normal spermatic vessels, which was markedly hypervascular at contrast-enhanced US. MRI showed diffuse infiltration by homogeneously enhancing tissue surrounding the spermatic vessels hypointense to testis on T2-weighted images, isointense on T1-weighed images, lacking fat tissue, with relatively high signal intensity on diffusion-weighted images. PMID:25043997

  5. 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 ...

  6. The carpal boss: a review of different sonographic findings*

    PubMed Central

    Arend, Carlos Frederico

    2014-01-01

    Carpal boss is an uncommon condition whose incidence is underestimated and that is frequently confused with other causes of development of tumor-like lesions on the dorsum of the wrist. From the clinical point of view, the main obstacle to its recognition is the nonspecificity of symptoms, frequently attributed to dorsal ganglion cysts, since both conditions share a similar location on the dorsum of the wrist. The assessment by ultrasonography allows for a correct diagnosis and appropriate management, with better chances of resolution of the clinical complaint and lower probability of iatrogenic worsening of the lesion. The present review is aimed at describing the different sonographic findings of carpal boss. PMID:25741059

  7. The carpal boss: a review of different sonographic findings.

    PubMed

    Arend, Carlos Frederico

    2014-01-01

    Carpal boss is an uncommon condition whose incidence is underestimated and that is frequently confused with other causes of development of tumor-like lesions on the dorsum of the wrist. From the clinical point of view, the main obstacle to its recognition is the nonspecificity of symptoms, frequently attributed to dorsal ganglion cysts, since both conditions share a similar location on the dorsum of the wrist. The assessment by ultrasonography allows for a correct diagnosis and appropriate management, with better chances of resolution of the clinical complaint and lower probability of iatrogenic worsening of the lesion. The present review is aimed at describing the different sonographic findings of carpal boss. PMID:25741059

  8. 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.

  9. 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

  10. 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

  11. [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

  12. Role of Sonographic Imaging in Occupational Therapy Practice

    PubMed Central

    2015-01-01

    Occupational therapy practice is grounded in the delivery of occupation-centered, patient-driven treatments that engage clients in the process of doing to improve health. As emerging technologies, such as medical imaging, find their way into rehabilitation practice, it is imperative that occupational therapy practitioners assess whether and how these tools can be incorporated into treatment regimens that are dually responsive to the medical model of health care and to the profession’s foundation in occupation. Most medical imaging modalities have a discrete place in occupation-based intervention as outcome measures or for patient education; however, sonographic imaging has the potential to blend multiple occupational therapy practice forms to document treatment outcomes, inform clinical reasoning, and facilitate improved functional performance when used as an accessory tool in direct intervention. Use of medical imaging is discussed as it relates to occupational foundations and the professional role within the context of providing efficient, effective patient-centered rehabilitative care. PMID:25871607

  13. 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

  14. Epidermoid cyst of the testis: An atypical sonographic appearance.

    PubMed

    Chen, Shu-Ting; Chiou, Hong-Jen; Pan, Chin-Chen; Shen, Shu-Huei; Chou, Yi-Hong; Tiu, Chui-Mei; Wang, Hsin-Kai; Lai, Yi-Chen; Lin, Yung-Hui; Wang, Jane; Chang, Cheng-Yen

    2016-09-01

    Epidermoid cysts are rare. They represent the most common benign tumor of the testis. The sonographic appearances of testicular epidermoid cysts usually include avascular, mostly lamellated, heterogeneous internal echotexture, with hypoechoic and hyperechoic concentric rings, accounting for the typical onion-ring appearance. On MRI, epidermoid cysts show a low-signal-intensity center, with internal concentric rings of alternating high- and low-signal intensity on T2-weighted images, which correlates with the onion-ring appearance. We report a patient with testicular epidermoid cyst with atypical ultrasound and MRI appearances that led to the erroneous initial diagnosis of "burned-out" tumor. © 2016 Wiley Periodicals, Inc. J Clin Ultrasound 44:448-451, 2016. PMID:27028726

  15. 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

  16. Sonographically guided superior laryngeal nerve block during awake fiberoptic intubation.

    PubMed

    Sawka, Andrew; Tang, Raymond; Vaghadia, Himat

    2015-04-15

    We report 5 patients who underwent ultrasound-guided superior laryngeal nerve block before awake intubation and general anesthesia. We used a 8- to 15-MHz hockey stick-shaped ultrasound transducer (HST15-8/20 linear probe, Ultrasonix) to visualize the superior laryngeal nerve. A 3.8-cm 25-G needle was inserted in real time and directed toward the superior laryngeal nerve followed by circumferential placement of local anesthetic. All 5 patients tolerated subsequent awake fiberoptic intubation with either minimal or no sedation. Sonographically guided superior laryngeal nerve block may be useful in patients where identification of landmarks in the neck is difficult as a result of patient anatomy. PMID:25867195

  17. Subchorionic hematoma in threatened abortion: Sonographic evaluation and significance.

    PubMed

    Al Nuaim, L; Chowdhury, N; Adelusi, B

    1996-11-01

    In a study of 92 women with subchorionic hematoma evaluated with sonographic scan in King Khalid University Hospital, it was found that the mean ages and live births of patients who carried their pregnancies to viability were higher when compared with the patients who aborted. There was a statistically significant association between the gestational age at diagnosis of subchorionic hematoma and the size of the hematoma. There was, however, no statistically significant association found between the gestational age at diagnosis, size and site of the hematoma and the outcome of pregnancy. It was concluded that subchorionic hematoma which appear either in the second trimester, or are larger, or located in the lower uterine segment, may be associated with higher rates of abortion or preterm deliveries. Nevertheless, there is no statistically significant impact of these on the outcome of pregnancy. PMID:17429250

  18. 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

  19. Sonographic diagnosis of uncomplicated first-trimester pregnancy in the rudimentary horn of a unicornuate uterus.

    PubMed

    Taori, Kishor; Saha, Bimal Kumar; Shah, Deepal; Khadaria, Narottam; Jadhav, Vijay; Jawale, Rajesh

    2008-01-01

    Although pregnancy in a rudimentary uterine horn is rare, the correct diagnosis of this condition on routine sonographic examination is critical, because its natural history usually involves the rupture of the pregnant horn during the second or third trimester, resulting in life-threatening bleeding. We report a case in which the diagnosis of right unicornuate uterus with a left noncommunicating rudimentary horn was made in the first trimester on routine sonographic examination. PMID:17410585

  20. Sonographic assessment of cervical length and the risk of preterm birth.

    PubMed

    Taylor, Betty Kay

    2011-01-01

    Sonographic assessment of cervical length is useful in evaluating the risk of preterm birth. Ultrasound is more accurate than digital exam and can be used in conjunction with fetal fibronectin (fFN) testing. Documentation of a long cervical length can reduce unnecessary treatments and hospitalizations in women who are unlikely to give birth preterm. Short cervical length can promote prompt intervention. Recognition of normal sonographic anatomy and proper measurement of the cervical canal are required. PMID:22273419

  1. Prenatal Detection of Inherited Disorders

    PubMed Central

    Dwivedi, Chandradhar

    1981-01-01

    The following is a review of current concepts of prenatal detection. Transabdominal amniocentesis is recognized to be an integral adjunct to prenatal care. The analysis of cultured amniotic fluid cells collected at about 16 weeks of gestation provides in utero diagnosis of nearly all chromosomal aberration syndromes, several metabolic disorders which are due to a specific enzymic deficiency due to single gene disorders, and some multifactorial disorders, such as prenatal diagnosis of neural tube defects by estimation of alphafeto protein in amniotic fluid. Various aspects of amniocentesis are discussed. PMID:7205985

  2. 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. PMID:3516893

  3. MedlinePlus: Prenatal Testing

    MedlinePlus

    ... Reliable Is Laboratory Testing? (American Association for Clinical Chemistry) Prenatal Testing: Is It Right for You? (Mayo ... Spanish Amniotic Fluid Analysis (American Association for Clinical Chemistry) Biophysical Profile (Mayo Foundation for Medical Education and ...

  4. 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

  5. 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

  6. 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. PMID:27167448

  7. The Clinical Significance of Early (<20 Weeks) Versus Late (20–24 Weeks) Detection of a Sonographic Short Cervix in Asymptomatic Women in the Mid-Trimester

    PubMed Central

    Vaisbuch, Edi; Romero, Roberto; Erez, Offer; Kusanovic, Juan Pedro; Mazaki-Tovi, Shali; Gotsch, Francesca; Romero, Vivian; Ward, Clara; Chaiworapongsa, Tinnakorn; Mittal, Pooja; Sorokin, Yoram; Hassan, Sonia S.

    2010-01-01

    Objective The aim of this study was to determine whether the risk of early spontaneous preterm delivery (sPTD) in asymptomatic women with a sonographic cervical length ≤15 mm in the mid-trimester changes as a function of gestational age at diagnos Methods This cohort study included 109 asymptomatic patients with a sonographic sonographic cervical length ≤15 mm diagnosed at 14–24 weeks of gestation. Women with a multifetal gestation, cerclage, and those with a cervical dilatation >2 cm were excluded. The study population was stratified by gestational age at diagnosis (<20 weeks vs. 20–24 weeks) and by cervical length (≤10 mm vs. 11–15 mm). The primary outcome variables were PTD <28 and <32 weeks’ gestation and the diagnosis-to-delivery interval. Results 1) The median gestational age at diagnosis of a short cervix before 20 weeks and at 20–24 weeks was 18.9 and 22.7 weeks, respectively; 2) women diagnosed before 20 weeks had a higher rate of sPTD at <28 weeks (76.9% vs. 30.9%; p<0.001) and at <32 weeks (80.8% vs. 48.1%; p=0.004), and a shorter median diagnosis-to-delivery interval (21 vs. 61.5 days, p=0.003) than those diagnosed at 20–24 weeks; 3) The rate of amniotic fluid “sludge” was higher among patients diagnosed at <20 weeks of gestation than those diagnosed between 20 and 24 weeks (92.3% vs. 48.2%;p<0.001). Conclusions Asymptomatic women with a sonographic cervical length ≤15 mm diagnosed before 20 weeks have a dramatic and significantly higher risk of early preterm delivery than women diagnosed at 20–24 weeks. These findings can be helpful to physicians in counseling these patients, and may suggest different mechanisms of disease leading to a sonographic short cervix before or after 20 weeks of gestation. PMID:20503224

  8. Determinants of the use of prenatal care in rural China: the role of care content.

    PubMed

    Nwaru, Bright I; Wu, Zhuochun; Hemminki, Elina

    2012-01-01

    Several maternal demographic factors have been identified to influence the timing of starting prenatal care and its adequate use. However, how the content of prenatal care modifies these factors has not been studied previously. Using a representative sample collected for other purposes in rural China, we examined the factors predicting the uptake of prenatal care by taking into account the content of care (advice: on nutrition during pregnancy, diseases and pregnancy-related problems, and on child care after birth; and routine tests: blood pressure, blood tests, and ultrasound). We studied 1,479 women who answered a house-hold KAP (knowledge, attitude, and practice) survey (97% response rate) collected after a prenatal care intervention from 2001 to 2003 in 20 townships located in a county in Anhui Province. A multinomial logistic regression was used for the analysis. The most prominent factors that predicted late start of prenatal care and inadequate care were younger age, low maternal income, and having more than one child. When we adjusted for the content of care, the influence of these factors on the use of prenatal care attenuated to varying degrees: in some cases there was up to 20% reduction in the values of the risk estimates, while in other cases the statistical significance of the estimates were lost. It is important to take into account the content of prenatal care when assessing the factors predicting women's use of prenatal care. PMID:21184157

  9. The value of fast MR imaging as an adjunct to ultrasound in prenatal diagnosis.

    PubMed

    Breysem, L; Bosmans, H; Dymarkowski, S; Schoubroeck, D Van; Witters, I; Deprest, J; Demaerel, P; Vanbeckevoort, D; Vanhole, C; Casaer, P; Smet, M

    2003-07-01

    The aim of this study was to evaluate the role of MR imaging of the fetus to improve sonographic prenatal diagnosis of congenital anomalies. In 40 fetuses (not consecutive cases) with an abnormality diagnosed with ultrasound, additional MR imaging was performed. The basic sequence was a T2-weighted single-shot half Fourier (HASTE) technique. Head, neck, spinal, thoracic, urogenital, and abdominal fetal pathologies were found. This retrospective, observational study compared MR imaging findings with ultrasonographic findings regarding detection, topography, and etiology of the pathology. The MR findings were evaluated as superior, equal to, or inferior compared with US, in consent with the referring gynecologists. The role of these findings in relation to pregnancy management was studied and compared with postnatal follow-up in 30 of 40 babies. Fetal MRI technique was successful in 36 of 39 examinations and provided additional information in 21 of 40 fetuses (one twin pregnancy with two members to evaluate). More precise anatomy and location of fetal pathology (20 of 40 cases) and additional etiologic information (8 of 40 cases) were substantial advantages in cerebrospinal abnormalities [ventriculomegaly, encephalocele, vein of Galen malformation, callosal malformations, meningo(myelo)cele], in retroperitoneal abnormalities (lymphangioma, renal agenesis, multicystic renal dysplasia), and in neck/thoracic pathology [cervical cystic teratoma, congenital hernia diaphragmatica, congenital cystic adenomatoid lung malformation (CCAM)]. This improved parental counseling and pregnancy management in 15 pregnancies. In 3 cases, prenatal MRI findings did not correlate with prenatal ultrasonographic findings or neonatal diagnosis. The MRI provided a more detailed description and insight into fetal anatomy, pathology, and etiology in the vast majority of these selected cases. This improved prenatal parental counseling and postnatal therapeutic planning. PMID:12695920

  10. Distinct lymph nodal sonographic characteristics in breast cancer patients at high risk for axillary metastases correlate with the final axillary stage.

    PubMed

    Moore, A; Hester, M; Nam, M-W; Brill, Y M; McGrath, P; Wright, H; Weisinger, K; Romond, E; Samayoa, L M

    2008-08-01

    The purpose of this study was to assess the clinical relevance, limitations and most common findings of axillary ultrasound and subsequent image-guided aspiration cytology in clinically node-negative breast cancer patients who are at high risk for axillary metastasis. Following institutional review board approval and Health Insurance Portability and Accountability Act (HIPAA) compliance, sonographic axillary surveys from 112 patients considered at high risk for axillary metastases were reviewed retrospectively for the following abnormal features: asymmetric cortical thickening/lobulations; loss or compression of the hyperechoic medullary region; absence of fatty hilum; abnormal lymph node shape; hypoechoic cortex; admixture of normal and abnormal appearing nodes; and increased peripheral blood flow. Patients with either normal or abnormal ultrasound exams, but negative cytology, underwent sentinel node mapping. Patients with abnormal ultrasound and positive cytology proceeded to complete axillary dissection. The number of positive nodes, the size of tumour deposits and the histological pattern of metastatic disease on the positive nodes were then correlated and compared with their corresponding sonographic abnormalities. Abnormalities related to the lymph node cortex were indicative of N1a disease. Features such as loss or compression of the hyperechoic medullary region, absence of fatty hilum, abnormal lymph node shape and increased peripheral blood flow were predictors of N2-3 disease. In conclusion, nodal sonographic characteristics of patients at high risk for metastases are useful predictors of tumour burden in the axilla. When combined with the results from aspiration cytology, these findings could modify the surgical approach to the axilla, eliminating the need for sentinel node mapping in a significant proportion of patients. PMID:18628332

  11. Sonographic measurement of the fetal rib cage perimeter to thoracic circumference ratio: application to prenatal diagnosis of skeletal dysplasias.

    PubMed

    Dugoff, L; Coffin, C T; Hobbins, J C

    1997-10-01

    The object of this study was to establish new normative data for the fetal rib cage perimeter to thoracic circumference ratio, and to evaluate the potential application of this measurement in the diagnosis of short rib and other skeletal dysplasias. Rib cage perimeter (RCP) and thoracic circumference (TC) were measured in a prospective, cross-sectional sample of 88 patients with normal pregnancies between 14 and 39 weeks of gestation. The RCP and TC were both measured in cross-section, at a level of the four-chamber view of the fetal heart. RCP and TC measurements were also obtained from eight cases known to have skeletal dysplasias. The mean (+/- SE) RCP:TC ratio in normal pregnancies, regardless of gestational age, was 0.670 +/- 0.004. In five of eight cases with skeletal dysplasias the RCP:TC ratio was significantly decreased, and in one case it was increased. The RCP:TC ratio in normal fetuses is independent of gestational age. In this small series the ratio was abnormal in fetuses with certain skeletal dysplasias, and particularly decreased in the fetus with a short rib-polydactyly syndrome. After further evaluation, this technique may prove to be of clinical significance in helping to diagnose skeletal dysplasias, particularly in cases where the gestational age is uncertain. PMID:9383879

  12. Carpal tunnel syndrome severity staging using sonographic and clinical measures

    PubMed Central

    Roll, Shawn C.; Volz, Kevin R.; Fahy, Christine M.; Evans, Kevin D.

    2014-01-01

    Introduction Ultrasonography may be valuable in staging carpal tunnel syndrome severity, especially by combining multiple measures. This study aimed to develop a preliminary severity staging model using multiple sonographic and clinical measures. Methods Measures were obtained in 104 participants. Multiple categorization structures for each variable were correlated to diagnostic severity based on nerve conduction. Goodness-of-fit was evaluated for models using iterative combinations of highly correlated variables. Using the best-fit model, a preliminary scoring system was developed, and frequency of misclassification was calculated. Results The severity staging model with best fit (Rho 0.90) included patient-reported symptoms, functional deficits, provocative testing, nerve cross-sectional area, and nerve longitudinal appearance. An 8-point scoring scale classified severity accurately for 79.8% of participants. Discussion This severity staging model is a novel approach to carpal tunnel syndrome evaluation. Including more sensitive measures of nerve vascularity, nerve excursion, or other emerging techniques may refine this preliminary model. PMID:25287477

  13. The sonographic appearance and obstetric management of placenta accreta

    PubMed Central

    Cheung, Charleen Sze-yan; Chan, Ben Chong-pun

    2012-01-01

    Placenta accreta is a condition of abnormal placental implantation in which the placental tissue invades beyond the decidua basalis. It may invade into or even through the myometrium and adjacent organs, such as the urinary bladder. The incidence has been rising in recent years. It is one of the important obstetric complications nowadays, leading to significant maternal morbidity and mortality. In the past, this condition was often diagnosed at the time of delivery when massive and unexpected hemorrhage occurred. Hysterectomy, associated with significant physical and psychological consequences, was usually the only management option. As more obstetricians have become aware of this condition, early identification with antenatal imaging diagnostic technology has become possible. Ultrasound scan plays an important role in the antenatal diagnosis. Various sonographic features with different specificity and sensitivity have been described in the literature. In equivocal cases, magnetic resonance imaging may be helpful. With such information, more accurate counseling can be offered to the mothers and their families before delivery. The delivery can also be arranged at a favorable time and in an institution where multidisciplinary support is available. Input from a hematologist, interventional radiologist, intensive care physician, urology surgeon, and/or other specialist are desirable. Apart from hysterectomy, various forms of conservative management can also be considered when the diagnosis is made prior to delivery. Fertility can therefore be preserved. After delivery, with or without hysterectomy performed, psychological support to the mothers and their families is essential. PMID:23239929

  14. Objective assessment of sonographic: quality II acquisition information spectrum.

    PubMed

    Nguyen, Nghia Q; Abbey, Craig K; Insana, Michael F

    2013-04-01

    This paper describes a task-based, information-theoretic approach to the assessment of image quality in diagnostic sonography. We expand the Kullback-Leibler divergence metric J, which quantifies the diagnostic information contained within recorded radio-frequency echo signals, into a spatial-frequency integral comprised of two spectral components: one describes patient features for low-contrast diagnostic tasks and the other describes instrumentation properties. The latter quantity is the acquisition information spectrum (AIS), which measures the density of object information that an imaging system is able to transfer to the echo data at each spatial frequency. AIS is derived based on unique properties of acoustic scattering in tissues that generate object contrast. Predictions made by the J integral expression were validated through Monte Carlo studies using echo-signal data from simulated lesions. Our analysis predicts the diagnostic performance of any sonographic system at specific diagnostic tasks based on engineering properties of the instrument that constitute image quality. PMID:23221818

  15. 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

  16. 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

  17. Complex Developmental Issues of Prenatal Drug Exposure.

    ERIC Educational Resources Information Center

    Kronstadt, Diana

    1991-01-01

    Reviews studies of the effects of prenatal drug exposure on child development, and reviews ideal early intervention programs. Researchers agree that prenatal drug exposure is only one of many factors that can influence a child's development. Specialized treatment programs and family support can ameliorate prenatal drug exposure effects. (SLD)

  18. Prenatal Famine and Adult Health

    PubMed Central

    Lumey, L.H.; Stein, Aryeh D.; Susser, Ezra

    2013-01-01

    We review human studies on the relation between acute exposures to prenatal famine and adult physical and mental health. These studies are observational and include exposures to a famine environment by natural or man-made causes or, more commonly, from the interplay between natural and human factors. These natural experiments provide an opportunity to examine long-term outcomes after famine exposures by comparing exposed and nonexposed individuals. The studies show consistent associations between prenatal famine and adult body size, diabetes, and schizophrenia. For other measures of adult health, findings are less robust. A relation between prenatal famine and some reported epigenetic changes may provide a potential mechanism to explain specific associations. Much progress can be made if current separate studies are further analyzed with comparable definitions of exposures and outcomes and using common analytic strategies. PMID:21219171

  19. 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

  20. Follow-up of sonographically detected soft markers for fetal aneuploidy.

    PubMed

    Norton, Mary E

    2013-10-01

    Sonographic soft markers of fetal Down syndrome were first reported in the 1980s. With improvements in aneuploidy screening, detection rates of 90% and higher are possible, and such screening is offered to women of all ages. The utility of sonographic detection and reporting of soft markers, particularly to women at low risk of fetal aneuploidy, is controversial. Some soft markers have no additional significance beyond an association with aneuploidy, while some potentially indicate other pathology, and therefore require sonographic follow-up or other evaluation. The definitions of soft markers vary among reported series, and any practice using such markers to adjust the risk of aneuploidy should carefully determine the most appropriate definitions as well as likelihood ratios and how to apply these in practice. PMID:24176161

  1. 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. PMID:25858096

  2. Successful implementation of a performance-related audit tool for sonographers

    PubMed Central

    Byass, OR

    2015-01-01

    A robust, sustainable audit programme for diagnostic ultrasound is hard to implement and establish. It requires time and resources to develop and to be relevant to clinical practice. There is a need for all ultrasound practitioners to undertake continuing professional development that underpins their roles and responsibilities within the workplace. A project group was established to evaluate how sonographers undertake Continuing Professional Development, with a view to understanding if implementing a performance-related audit process could support Continuing Professional Development. The group reviewed their clinical practice with an aim of developing a clinical governance and audit programme that could support both the needs of the service and sonographers alike. Our project has demonstrated that the implementation of this audit and case review process has positively contributed to our service and provided a more transparent and tangible account of sonographer performance.

  3. Can Hybrid Learning Theory Be Used to Teach Working Sonographers Breast Elastography?

    PubMed Central

    Mitchell, Carol; Hall, Timothy J.; Baker, Sara; Burke, Megan; Knauf, Laura; Willey, Bridgett

    2016-01-01

    Hybrid learning is a combination of on-line learning and face-to-face sessions. This research sought to answer the question of “Can Hybrid Learning be Utilized To Teach Working Sonographers to perform breast Elastography?” We designed a hybrid course entitled “Breast Elastography for Working Sonographers.” This course consisted of four on-line training modules, each complete with a post-test and one face-to-face session. After the face-to-face session lectures, participants were interviewed and observed performing elastography on a breast phantom. Our results indicate that this is a successful method for teaching working sonographers breast elastography, in this setting.

  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. 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

  6. Sonographically guided hydrodissection and corticosteroid injection for scleroderma hand.

    PubMed

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

    2011-06-01

    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. Twenty-six 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 ml of 1% lidocaine administered with a 25-gauge 1-in. 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. 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. 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

  7. Noninvasive Prenatal Measurement of the Fetal Genome

    PubMed Central

    Fan, H. Christina; Gu, Wei; Wang, Jianbin; Blumenfeld, Yair J.; El-Sayed, Yasser Y.; Quake, Stephen R.

    2012-01-01

    The vast majority of prenatal genetic testing requires invasive sampling. Since this poses a risk to the fetus, one must make a decision that weighs the desire for genetic information against the risk of an adverse outcome due to hazards of the testing process. These issues are not required to be coupled, and it would be desirable to discover genetic information about the fetus without incurring a health risk. Here we demonstrate that it is possible to noninvasively sequence the entire prenatal genome. Our results show that molecular counting of parental haplotypes in maternal plasma by shotgun sequencing of maternal plasma DNA allows the inherited fetal genome to be deciphered noninvasively. We also applied the counting principle directly to each allele in the fetal exome by performing exome capture on maternal plasma DNA prior to shotgun sequencing. This approach enables noninvasive exome screening of clinically relevant and deleterious alleles that were paternally inherited or had arisen as de novo germline mutations, and complements the haplotype counting approach to provide a comprehensive view of the fetal genome. Noninvasive determination of the fetal genome may ultimately facilitate the diagnosis of all inherited and de novo genetic disease. PMID:22763444

  8. PRENATAL TCDD IN MICE INCREASES ADULT AUTOIMMUNITY

    PubMed Central

    Holladay, Steven D.; Gogal, Robert M.

    2010-01-01

    Two immunologically-different mouse strains, C57BL/6 and SNF1, were exposed to a mid-gestation dose of TCDD. The C57BL/6 mouse has a high-affinity aryl hydrocarbon receptor (AhR) and is sensitive to TCDD. The SNF1 mouse has a low-affinity AhR but spontaneously develops autoimmune nephritis. Autoreactive Vβ+CD4+17a and Vβ+CD3+ T cells were increased at 24-weeks-of-age in offspring of C57BL/6 mice, more so in females than males. The cytokine IFN-γ was elevated in the females, while IL-10 was elevated in males. Phenotypic changes in B-lineage cells were present in bone marrow and spleen, and circulating autoantibodies were increased after prenatal TCDD. Kidneys of males showed significant anti-IgG and anti-C3 deposition, suggesting early-stage autoimmune disease. The SNF1 offspring similarly showed increased peripheral Vβ+ cells in the females, increased autoantibody production in both sexes, and increased IFN-γ production in females. Male SNF1 mice had increased anti-IgG and anti-C3 deposition in kidneys. Both mouse models therefore showed clear signatures of enhanced autoimmunity after prenatal TCDD. PMID:20728533

  9. 13q31.1 microdeletion: A prenatal case report with macrocephaly and macroglossia.

    PubMed

    Poreau, Brice; Lin, Stéphanie; Bosson, Caroline; Dieterich, Klaus; Satre, Véronique; Devillard, Françoise; Guigue, Virginie; Ronin, Candice; Brouillet, Sophie; Barbier, Christophe; Jouk, Pierre-Simon; Coutton, Charles

    2015-10-01

    We report on a female fetus with macrocephaly and macroglossia harbouring 13q31.1 microdeletion encompassing three genes: SPRY2, NDFIP2 and RBM26. NDFIP2 protein is involved in ubiquitination and in Ras/mitogen-activated protein kinase (MAPK) signaling pathways. SPRY2 protein is part of Sprout protein family and inhibits the Ras/MAPK pathways. Ras/MAPK pathway plays important role in complex cellular programs including cell differentiation and proliferation. Germline mutations in genes encoding protein involved in the MAPK cascade is responsible for a wide family of developmental disorders known as RASopathies. Some RASopathies, such as Costello syndrome, present a phenotype with (relative) macrocephaly as perinatal features. However, prenatal-onset macroglossia are generally absent in this syndrome but rather suggestive of the Beckwith-Wiedemann syndrome for which molecular testing were negative. Phenotype-genotype correlation with patients from DECIPHER defines NDFIP2 and SPRY2 as a possible candidate genes for a RASopathy potentially responsible for the clinical features in the fetus. Finally, this original case of 13q31.1 microdeletion underlines the importance of array-CGH in prenatal diagnosis with sonographic signs such as macroglossia and/or macrocephaly. In this case, genetic investigation should be not limited to the search of well-known genetic causes and other genomic microdeletions should be considered as alternative diagnoses for macroglossia. PMID:26365529

  10. Prenatal diagnostic testing of the Noonan syndrome genes in fetuses with abnormal ultrasound findings.

    PubMed

    Croonen, Ellen A; Nillesen, Willy M; Stuurman, Kyra E; Oudesluijs, Gretel; van de Laar, Ingrid M B M; Martens, Liesbeth; Ockeloen, Charlotte; Mathijssen, Inge B; Schepens, Marga; Ruiterkamp-Versteeg, Martina; Scheffer, Hans; Faas, Brigitte H W; van der Burgt, Ineke; Yntema, Helger G

    2013-09-01

    In recent studies on prenatal testing for Noonan syndrome (NS) in fetuses with an increased nuchal translucency (NT) and a normal karyotype, mutations have been reported in 9-16% of cases. In this study, DNA of 75 fetuses with a normal karyotype and abnormal ultrasound findings was tested in a diagnostic setting for mutations in (a subset of) the four most commonly mutated NS genes. A de novo mutation in either PTPN11, KRAS or RAF1 was detected in 13 fetuses (17.3%). Ultrasound findings were increased NT, distended jugular lymphatic sacs (JLS), hydrothorax, renal anomalies, polyhydramnios, cystic hygroma, cardiac anomalies, hydrops fetalis and ascites. A second group, consisting of anonymized DNA of 60 other fetuses with sonographic abnormalities, was tested for mutations in 10 NS genes. In this group, five possible pathogenic mutations have been identified (in PTPN11 (n=2), RAF1, BRAF and MAP2K1 (each n=1)). We recommend prenatal testing of PTPN11, KRAS and RAF1 in pregnancies with an increased NT and at least one of the following additional features: polyhydramnios, hydrops fetalis, renal anomalies, distended JLS, hydrothorax, cardiac anomalies, cystic hygroma and ascites. If possible, mutation analysis of BRAF and MAP2K1 should be considered. PMID:23321623

  11. Ultrasonic call characteristics of rat pups are altered following prenatal malnutrition.

    PubMed

    Tonkiss, John; Bonnie, Kristin E; Hudson, Jamie L; Shultz, Penny L; Duran, Pilar; Galler, Janina R

    2003-09-01

    The male offspring of rats provided with a protein deficient diet (6% casein) for 5 weeks prior to mating and throughout pregnancy were subjected to a brief period of isolation and cooling at postnatal Days (P)7, 9, and 11, and their ultrasonic vocalizations were compared with those of well-nourished pups. Calls were categorized into 12 different types based upon their sonographic patterns. Although call rates were equal, the call characteristics of the prenatally malnourished pups differed significantly from those of well-nourished controls. At P7, their mean peak sound frequency (irrespective of call type) was significantly higher, and constant frequency calls were of both higher frequency and longer duration. Over the age range studied, prenatally malnourished pups emitted a smaller variety of calls, with significantly fewer ascending frequency vocalizations while producing either significantly fewer (P9) or greater (P11) descending frequency calls. Altered crying patterns have been related to brain damage in human babies, with more abnormal cries being associated with more severe neurological impairment. Therefore, the present results most likely reflect altered central nervous system development and function. Ultrasonic vocalization characteristics in rat pups may provide a useful early marker of the severity of disturbance to the development of the central nervous system following an insult, and offer the potential for predicting the degree of functional and behavioral deficits later in life. PMID:12918088

  12. Sonographic Appearance of the Median Nerve Following Revision Carpal Tunnel Surgery

    PubMed Central

    Shapiro, Shane A; Alkhamisi, Ashkan; Pujalte, George G A

    2016-01-01

    The main objective of this pictorial essay is to illustrate the sonographic appearance of the postoperative carpal tunnel and median nerve. Carpal tunnel surgical treatment failures have been shown to occur in up to 19% of a large series requiring re-exploration. Surgical management options for recurrent carpal tunnel syndrome (CTS) include revision release, neurolysis, vein wrapping, and fat grafting procedures. While several descriptions of median nerve entrapment in CTS exist in the ultrasound literature, little is written regarding its postoperative appearance. We report the sonographic changes in the appearance of the median nerve and postoperative carpal tunnel. PMID:27195177

  13. 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…

  14. 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

  15. 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. PMID:25521971

  16. 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

  17. The management of ureteropelvic junction obstruction presenting with prenatal hydronephrosis.

    PubMed

    Herndon, C D Anthony; Kitchens, David M

    2009-01-01

    The treatment of the newborn diagnosed with a ureteropelvic obstruction prenatally should follow a systematic approach. Although a majority of patients can be followed without surgical intervention, controversy exists concerning appropriate follow-up. Furthermore, a significant number of patients will manifest mild disease and thus deserve abbreviated follow-up. Herein, an appropriate algorithm and a review of the literature are discussed. PMID:19484161

  18. Sonographic features of intestinal and biliary ascariasis in childhood: case report and review of the literature.

    PubMed

    Koumanidou, Chris; Manoli, Eleni; Anagnostara, Athina; Polyviou, Petros; Vakaki, Marina

    2004-12-01

    Despite the fact that Ascaris lumbricoides is one of the commonest intestinal infections in developing countries, there are very few reports in the literature about the sonographic findings of intestinal and biliary ascariasis in childhood. The clinical manifestations, diagnostic procedures and imaging appearance of intestinal and biliary ascariasis in two patients are discussed with a brief review of the literature. PMID:15720890

  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. Integration of noninvasive prenatal prediction of fetal blood group into clinical prenatal care.

    PubMed

    Clausen, Frederik Banch

    2014-05-01

    Incompatibility of red blood cell blood group antigens between a pregnant woman and her fetus can cause maternal immunization and, consequently, hemolytic disease of the fetus and newborn. Noninvasive prenatal testing of cell-free fetal DNA can be used to assess the risk of hemolytic disease of the fetus and newborn to fetuses of immunized women. Prediction of the fetal RhD type has been very successful and is now integrated into clinical practice to assist in the management of the pregnancies of RhD immunized women. In addition, noninvasive prediction of the fetal RhD type can be applied to guide targeted prenatal prophylaxis, thus avoiding unnecessary exposure to anti-D in pregnant women. The analytical aspect of noninvasive fetal RHD typing is very robust and accurate, and its routine utilization has demonstrated high sensitivities for fetal RHD detection. A high compliance with administering anti-D is essential for obtaining a clinical effect. Noninvasive fetal typing of RHC/c, RHE/e, and KEL may become more widely used in the future. PMID:24431264

  1. Sonography of Gastrointestinal Tract Diseases: Correlation With Computed Tomographic Findings and Endoscopy.

    PubMed

    Ahn, Sung Eun; Moon, Sung Kyoung; Lee, Dong Ho; Park, Seong Jin; Lim, Joo Won; Kim, Hyun Cheol; Lee, Han Na

    2016-07-01

    Sonographic evaluation of the gastrointestinal (GI) tract may be difficult because of overlying intraluminal bowel gas and gas-related artifacts. However, in the absence of these factors and with the development of high-resolution scanners and the technical experience of radiologists, sonography can become a powerful tool for GI tract assessment. This pictorial essay focuses on sonographic findings of GI tract lesions compared with endoscopic, computed tomographic, and magnetic resonance imaging findings. Neoplastic and non-neoplastic diseases and postoperative complications are illustrated, and the distinctive sonographic characteristics of these entities are highlighted. PMID:27268998

  2. 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. PMID:24121538

  3. Non-invasive prenatal testing: ethical issues explored

    PubMed Central

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

    2010-01-01

    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

  4. 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

  5. Increased precipitation of spasms in an animal model of infantile spasms by prenatal stress exposure.

    PubMed

    Shi, Xiu-Yu; Ju, Jun; Zou, Li-Ping; Wang, Juan; Shang, Ning-Xiu; Zhao, Jian-Bo; Wang, Jing; Zhang, Jun-Yan

    2016-05-01

    Infantile spasms (IS) represent a serious epileptic syndrome, called West syndrome (WS) that occurs in the early infantile age. Although several hypotheses and animal models have been proposed to explain the pathogenesis of IS, the pathophysiology of IS has not been elucidated. Recently, we proposed a hypothesis for IS under prenatal stress exposure (also called Zou's hypothesis) by correlating diverse etiologies and prenatal stresses with IS development. This research aims to determine the mechanism through which prenatal stress affects the offspring and establish the potential underlying mechanisms. Pregnant rats were subjected to forced swimming in cold water. Rat pups exposed to prenatal stress were administered with N-methyl-D-aspartate (NMDA). Exposure to prenatal stress sensitized the rats against development of NMDA-induced spasms. However, this phenomenon was altered by administering adrenocorticotropin. Prenatal stress exposure also altered the hormonal levels and neurotransmitter receptor expression of the developing rats as well as influenced the tissue structure of the brain. These findings suggest that maternal stress could alter the level of endogenous glucocorticoid, which is the basis of IS, and cerebral dysplasia, hypoxic-ischemic encephalopathy (HIE), inherited metabolic diseases, and other factors activated this disease in developmental brain. PMID:27036501

  6. 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

  7. Prenatal diagnosis of cloacal anomaly.

    PubMed

    Cacciaguerra, S; Lo Presti, L; Di Leo, L; Grasso, S; Gangarossa, S; Di Benedetto, V; Di Benedetto, A

    1998-02-01

    The authors present a case of prenatal diagnosis of cloacal anomaly, characterized by the presence of oligohydramnios and cystic pelvic mass with changing features during observation. Postnatal study confirmed the presence of a recto-cloacal fistula, with a high confluence of the urinary, genital and intestinal systems. Both parents had a chromosome 9 inversion (p11q13), but the child was chromosomally normal. PMID:9561584

  8. 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

  9. 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

  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 factors associated with autism spectrum disorder (ASD).

    PubMed

    Ornoy, A; Weinstein-Fudim, L; Ergaz, Z

    2015-08-15

    Autism spectrum disorder (ASD) affecting about 1% of all children is associated, in addition to complex genetic factors, with a variety of prenatal, perinatal and postnatal etiologies. We discuss the known associated prenatal factors affecting the fetus throughout pregnancy; whenever relevant, also summarize some animal data. Among the maternal diseases in pregnancy associated with ASD are pregestational and/or gestational diabetes mellitus (PGDM, GDM), maternal infections (i.e. rubella, cytomegalovirus (CMV)), prolonged fever and maternal inflammation, which cause changes in a variety of inflammatory cytokines. Among the drugs are valproic acid, thalidomide, and possibly misoprostol and serotonin reuptake inhibitors (SSRIs). Associations were described with ethanol, and possibly cocaine, heavy metals heavy smoking and Folic acid deficiency. Heavy exposure to pesticides and air pollution during pregnancy was recently associated with ASD. We need more epidemiologic data to establish many of these associations; if proven, they might be promising avenues for prevention. PMID:26021712

  12. Prenatal Diagnosis and Pregnancy Outcome Analysis of Polyhydramnios.

    PubMed

    Liu, Li-Ling; Pang, Li-Hong; Deng, Bi-Ye

    2016-01-01

    The aim of the study was to investigate the etiology and pregnancy outcomes in mothers with polyhydramnios through prenatal diagnosis and pregnancy outcome analysis of pregnant women with polyhydramnios. One hundred and thirty women were enrolled. Fifty pregnant women with polyhydramnios were categorized as the case group, and 80 pregnant women with normal amniotic fluid were categorized as the control group. The causes of polyhydramnios and the pregnancy outcomes were analyzed. Two cases had chromosomal abnormalities, seven had severe α-thalassemia, 15 had fetal anomalies, four had maternal-fetal diseases and 22 had unexplained idiopathic polyhydramnios. Significantly, higher occurrences of cesarean section, preterm birth, fetal anomaly, fetal distress, fetal macrosomia and female fetuses occurred in patients with polyhydramnios than in patients without polyhydramnios. Polyhydramnios is associated with a higher occurrence of adverse perinatal outcomes. Intensive monitoring of the maternal-fetal condition and prenatal diagnosis is important in patients with polyhydramnios. PMID:26720631

  13. [Prenatal discovery of Joubert syndrome associated with small bowel volvulus].

    PubMed

    Aurégan, C; Donciu, V; Millischer, A-E; Khen-Dunlop, N; Deloison, B; Sonigo, P; Magny, J-F

    2016-03-01

    Joubert syndrome and prenatal volvulus are difficult to diagnose during pregnancy. Joubert syndrome and related diseases should be considered in case of prenatal abnormal features of the fourth ventricle. Small bowel volvulus is also a surgical emergency because of the risk of intestinal necrosis before or after delivery. This type of condition justifies the transfer of pregnant women to a specialized hospital where the newborn may receive appropriate care. We report the case of a 31-week and 4-day gestational-age fetus in whom intrauterine growth retardation and small-bowel volvulus were diagnosed. Additional imaging revealed associated Joubert syndrome. This highlights the need for regular ultrasound monitoring during pregnancy and the comanagement of obstetricians and pediatricians to provide appropriate care before and after delivery. PMID:26850151

  14. 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)

  15. 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.…

  16. 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

  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. The sonographic appearance and detectability of nonopaque and semiopaque materials of military origin.

    PubMed

    Harcke, H Theodore; Levy, Angela D; Lonergan, Gael J

    2002-06-01

    The objective of our study was to characterize the sonographic appearance and detectability of nonopaque and semiopaque materials of military origin in soft tissue. Representative materials were obtained from combat boots used in land mine tests and from military-issue clothing and equipment. Sixty fragments from 3 to 30 mm were embedded in an in vitro tissue model (thawed turkey breasts). Real-time ultrasonography was used to search for the fragments and to characterize their sonographic qualities (surface echoes, acoustic shadowing) when visible. Fifty-eight fragments were identified successfully. Two 5-mm fragments in the group of smallest size were missed. All types of material tested were visible. Nonopaque fragments of military origin should be detectable by sonography when present as foreign bodies in soft tissue. This represents a potential application for sonography in military hospitals. PMID:12099079

  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. 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.

  1. Prenatal Diagnosis of Congenital Dermal Sinus

    PubMed Central

    Sakr, Sharif; Mohan, Yedathore; Malik, Asif; Malik, Ghaus; Gonik, Bernard

    2015-01-01

    Background Congenital dermal sinus (CDS) is an uncommon form of spinal dysraphism. Although postdelivery identification in the neonate is aided by several associated physical examination findings, establishing this diagnosis prenatally has proven to be elusive. Case Report We present a case of CDS where the prenatal findings at 20 weeks gestation led to the diagnosis, which was confirmed postnatally. The associated protrusion of fibrotic membranes through the sinus tract helped in the identification of this lesion prenatally, but created confusion with a more common type of lesion, an open neural tube defect. This is the first case report in the literature describing prenatal diagnosis of fetal CDS. Conclusion Prenatal diagnosis with postnatal confirmation of CDS leads to early intervention, better long-term outcomes, and lesser complications. PMID:26199797

  2. Medicaid reimbursement, prenatal care and infant health.

    PubMed

    Sonchak, Lyudmyla

    2015-12-01

    This paper evaluates the impact of state-level Medicaid reimbursement rates for obstetric care on prenatal care utilization across demographic groups. It also uses these rates as an instrumental variable to assess the importance of prenatal care on birth weight. The analysis is conducted using a unique dataset of Medicaid reimbursement rates and 2001-2010 Vital Statistics Natality data. Conditional on county fixed effects, the study finds a modest, but statistically significant positive relationship between Medicaid reimbursement rates and the number of prenatal visits obtained by pregnant women. Additionally, higher rates are associated with an increase in the probability of obtaining adequate care, as well as a reduction in the incidence of going without any prenatal care. However, the effect of an additional prenatal visit on birth weight is virtually zero for black disadvantaged mothers, while an additional visit yields a substantial increase in birth weight of over 20 g for white disadvantaged mothers. PMID:26355229

  3. 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.

  4. 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

  5. Sonographic evaluation of common peroneal neuropathy in patients with foot drop.

    PubMed

    Grant, Thomas H; Omar, Imran M; Dumanian, Gregory A; Pomeranz, Christy B; Lewis, Vanessa A

    2015-04-01

    The common peroneal nerve arises from the sciatic nerve and is subject to a variety of abnormalities. Although diagnosis is often is based on the clinical findings and electrodiagnostic tests, high-resolution sonography has an increasing role in determining the type and location of common peroneal nerve abnormalities and other peripheral nerve disorders. This article reviews the normal sonographic appearance of the common peroneal nerve and the findings in 21 patients with foot drop related to common peroneal neuropathy. PMID:25792587

  6. [Giant cystosarcoma phylloides: mammographic and sonographic findings in an unusual case].

    PubMed

    Schön, G; Strasser, K; Dünser, M; Buchberger, W; Margreiter, R

    1994-01-01

    Cystosarcoma phylloides (also called phylloides tumour) is a rare fibroepithelial mixed tumour which accounts for 0.3 to 1% of all breast neoplasms. Diagnosis can be strongly suspected after clinical, mammographical and especially sonographical findings. Neither mammography nor sonography and even not aspiration cytology can be reliably used to differentiate between benign and malignant tumours. In the following a patient is presented in whom cystosarcoma phylloides attained, even for this kind of tumour, an unusually large dimension. PMID:8136391

  7. THREE DIMENSIONAL SONOGRAPHIC IMAGING OF PLACENTAL MESENCHYMAL DYSPLASIA AND ITS DIFFERENTIAL DIAGNOSES

    PubMed Central

    Vaisbuch, Edi; Romero, Roberto; Kusanovic, Juan Pedro; Erez, Offer; Mazaki-Tovi, Shali; Gotsch, Francesca; Kim, Chong Jai; Kim, Jung-Sun; Yeo, Lami; Hassan, Sonia S.

    2009-01-01

    Objective Placental mesenchymal dysplasia (PMD) is an uncommon vascular anomaly of the placenta characterized by mesenchymal stem villous hyperplasia. Its main sonographic features is a thickened placenta with hypoechoic areas, and an accurate sonographic diagnosis is challenging. The aim of this study was to report two cases of PMD, and discuss the differential diagnosis of its sonographic features. Methods Cases of placental masses studied by two-dimensional (2D), three-dimensional (3D) and Color Doppler imaging. Results Case 1 - a thick placenta with multiple hypoechoic areas was noted at 13 weeks of gestation. At 19 weeks, the multi-cystic area, clearly demarcated from a normal looking placenta, measured 6.5×8.5cm and enlarged gradually. The patient delivered a 625 gram female after a spontaneous labor at almost 26 weeks’ gestation. Case 2 - a first sonographic examination at 25 weeks’ gestation revealed a thickened placenta with hypoechoic areas and a fetus with a single umbilical artery and a ventricular septal defect. At 27 weeks, the abnormal area of the placenta measured 14.5×7.5cm. At 32 weeks’ gestation, a caesarean section was performed due to non-reassuring fetal heart tracing and a 1415 gram female infant was delivered. Both cases were evaluated by 2D, 3D and Color Doppler imaging and the pathologic features of both placentas were consistent with PMD. Conclusions Placental mesenchymal dysplasia should be considered in the differential diagnosis of every placental mass, especially in cases of multi-cystic placental lesion with lack of high velocity signals inside the lesion, and a normal karyotype. PMID:19244073

  8. Predicting student performance in sonographic scanning using spatial ability as an ability determinent of skill acquisition

    NASA Astrophysics Data System (ADS)

    Clem, Douglas Wayne

    Spatial ability refers to an individual's capacity to visualize and mentally manipulate three dimensional objects. Since sonographers manually manipulate 2D and 3D sonographic images to generate multi-viewed, logical, sequential renderings of an anatomical structure, it can be assumed that spatial ability is central to the perception and interpretation of these medical images. Using Ackerman's theory of ability determinants of skilled performance as a conceptual framework, this study explored the relationship of spatial ability and learning sonographic scanning. Beginning first year sonography students from four different educational institutions were administered a spatial abilities test prior to their initial scanning lab coursework. The students' spatial test scores were compared with their scanning competency performance scores. A significant relationship between the students' spatial ability scores and their scanning performance scores was found. This result suggests that the use of spatial ability tests for admission to sonography programs may improve candidate selection, as well as assist programs in adjusting instruction and curriculum for students who demonstrate low spatial ability.

  9. A Comparison of Sonographic Assessments and Clinical Questionnaire in the Diagnosis of HIV-Associated Lipodystrophy.

    PubMed

    Signorini, Dario José Hart Pontes; Netto, Ana Maria Schmidt de Oliveira; Gabbay, Sergio; Monteiro, Michelle Carreira Miranda; Signorini, Dario Hart; Andrade, Marion de Fátima Castro de; Bastos, Francisco I; Codeço, Cláudia Torres

    2011-01-01

    The study evaluated the use of sonographic measurements as an alternative to assessments based on clinical or other imaging techniques for the diagnosis of body-fat abnormalities. The study enrolled 179 HIV-infected patients, 81 (45.3%) of them diagnosed as lipodystrophy (LD)-positive based on a clinical standard questionnaire. Association between clinical LD and sonographic measurements of face, right upper limb, subcutaneous abdomen, and visceral compartments was evaluated by multiple logistic regression. The predicted probability of the logistic model was 0.64, corresponding to a maximum sensitivity of 69.1% (58%-79%), a specificity of 94.9% (88%-98%), and to positive and negative predictive values of 92% (82%-97%) and 79% (70%-86%), respectively. Kappa measure of concordance was 65% (54%-77%). Low sensitivity poses a problem for the use of sonography to detect LD in the clinical routine as a single exam, speaking in favor of the combined use of clinical and sonographic measurements over time. PMID:21521805

  10. Prenatal arsenic exposure and drowning among children in Bangladesh

    PubMed Central

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

    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. PMID:26511679

  11. 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

  12. 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

  13. [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

  14. Occult traumatic loculated tension pneumothorax--a sonographic diagnostic dilemma.

    PubMed

    Burns, Brian J; Aguirrebarrena, Gonzalo

    2013-01-01

    This case outlines a rarely seen disease in prehospital emergency care-namely, a traumatic loculated tension pneumothorax. Prehospital thoracic ultrasound as part of a standard extended focused assessment with sonography in trauma (EFAST) algorithm failed to diagnose this life-threatening injury. We have subsequently added scanning the lateral chest wall in the fifth intercostal space to the algorithm. PMID:22920267

  15. [Scientific and practical aspects of prenatal diagnosis].

    PubMed

    Baranov, V S

    2003-01-01

    Prenatal diagnostics (PD) is a relatively new branch of medical genetics enjoining presently a rapid practical and scientific progress. The key practical issues related with detecting the pregnant women at high risk of fetal congenital and inherited pathologies have already been solved, and a variety of fetal examinations by non-invasive (ultrasound) and invasive (cytogenetics, biochemistry and molecular tests) methods have been elaborated. Their practical application are totally dependant on the managerial and financial input in the discussed field of medicine. Further advancement in PD are tensely associated with early pregnancy stages (trimester 1), with the molecular diagnostic tools in the diagnosis of chromosomal diseases and with a comprehensive use of Pregnancy Genetic Form worked out and used already at our institute. DP opens up the promising opportunities for analyzing the human genome activity at the initial development stages, which comprises the revision of previously-obtained data on the cytogenetics of human embryo evolution, human chromosomes' functioning and of temporary embryonic organs as observed during the mentioned stages; it also comprises an analysis and application of umbilical and embryonic cells (embryonic cell therapy) and elaboration of scientific fundamentals for embryonic gene therapy. PD should not be referred to only as a set of diagnostic methods for it is also a good starting-ground for research of human embryo-genesis. PMID:14598504

  16. Prenatal diagnosis and obstetric management.

    PubMed

    O'Brien, Pat; Nugent, Mae; Khalil, Asma

    2015-10-01

    Conjoined twins are rare, representing 1 in 50,000 to 1 in 200,000 live births, and the prognosis is generally poor. Accurate prenatal diagnosis by an experienced multidisciplinary team using a combination of imaging modalities allows parents to make fully informed choices. This may include termination of pregnancy, which is easier and safer at the earlier gestations at which diagnosis is now being made; continuing with the pregnancy but accepting that only palliative care is appropriate after birth; or planned intensive care and separation of the twins after birth. Delivery will invariably be by cesarean section in order to minimize the risk of peripartum harm to both mother and babies. PMID:26382256

  17. 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.

  18. 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.…

  19. 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

  20. 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 ...

  1. Improving Prenatal Care for Minority Women.

    PubMed

    Gennaro, Susan; Melnyk, Bernadette Mazurek; OʼConnor, Caitlin; Gibeau, Anne M; Nadel, Ellen

    2016-01-01

    Since the inception of prenatal care in the early 1900s, the focus of care has been on risk reduction rather than on health promotion. Prenatal care began as individualized care, but more recently group prenatal care has been shown to be very successful in improving birth outcomes. For all women, an emphasis on improving health behaviors is important at this critical time while women are engaging regularly with the healthcare system. An emphasis on mental health promotion may decrease some of the disparities in birth outcomes that are well documented between minority and majority women, as minority women are known to experience increased levels of stress, anxiety, and depression. Providing support for pregnant women and incorporating knowledge and skills through prenatal care may promote both physical and mental health in minority women. PMID:26854915

  2. 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 ...

  3. Multicystic renal dysplasia detected by prenatal ultrasonography. Natural history and results of conservative management.

    PubMed

    Rickwood, A M; Anderson, P A; Williams, M P

    1992-05-01

    In a review of 44 infants with multicystic renal dysplasia diagnosed prenatally by ultrasonography, contralateral anomalies, bilateral disease and other non-urinary congenital anomalies were rare. In approximately two-thirds of infants the lesion was impalpable and in 2 cases involution had occurred prenatally. All but 5 were managed conservatively and without complications, and partial or complete involution of the lesion occurred in more than 50% during follow-up. It was concluded that the natural history of this anomaly is usually benign and that conservative management is advisable. PMID:1623386

  4. Some ethical issues in the prenatal diagnosis of sickle cell anaemia.

    PubMed

    Fadare, Joseph O

    2009-12-01

    Sickle cell anaemia (SCA) is the most common form of haemoglobinopathy in Nigeria affecting 1-3% of the population and it is associated with physical, psychosocial and emotional suffering. Prenatal diagnosis (PND) and genetic counseling are ways of preventing the spread of the disease; however these means of prevention are associated with many ethical dilemmas. Ethical issues discussed in this paper include the safety of the procedures used in obtaining tissue sample for prenatal diagnosis, abortion of affected fetuses and the question of genetic selection. Finally, the ethical implications of genetic counseling and issues relating to the principle of justice in healthcare are highlighted. PMID:25161466

  5. 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

  6. Stereological analysis of cornu ammonis in prenatally stressed rats: a heuristic neurodevelopmental model of schizophrenia

    PubMed Central

    Hosseini-sharifabad, Mohammad; Sabahi, Abdoreza

    2014-01-01

    Objective(s): The hippocampus has been implicated in pathophysiology of schizophrenia. Prenatal stress is a contributing risk factor for a wide variety of neuropsychiatric diseases including schizophrenia. This study examined long-term effects of prenatal restraint stress on the stereological parameters in the Cornu Ammonis (CA) of adult male rats as an animal model of schizophrenia. Materials and Methods: Wistar pregnant dams in experimental group were stressed in a cylindrical Plexiglas restrainer daily for 1 hr during last week of gestation. Controls remained in the animal room and were exposed only to normal animal room conditions. At 2 months of age, the volume of the pyramidal cell layer of the CA, the numerical density and the somal volume of the respective neurons were assessed in the male offspring generated from stressed and control pregnancies. Cavalieri's principle, physical disector and nucleator were applied for stereological analyses. Results: This study showed that prenatal stress significantly decreased the volume of CA3 pyramidal cell layer and the individual somal volume of CA3 pyramidal neurons. However, there were no markedly differences in the numerical density, total number of CA3 pyramidal neurons and stereological parameters in CA1 of prenatally stressed and control animals. Conclusion: These data indicate that prenatal stress exposure induced neuronal changes in the CA3 subfield of hippocampus which are similar to what is observed in schizophrenia. PMID:24847421

  7. An update on prenatal diagnosis and treatment of congenital adrenal hyperplasia.

    PubMed

    New, Maria I; Abraham, Moolamannil; Yuen, Tony; Lekarev, Oksana

    2012-10-01

    Congenital adrenal hyperplasia causes genital ambiguity in females affected with the severe form of the disease; yet the abnormality is preventable with prenatal dexamethasone treatment that must be given to the mother before the ninth week of gestation. In the period from 1978 to March 2011 we have made prenatal diagnosis in 719 pregnancies. Our results indicate that the average Prader score of those fetuses treated with dexamethasone was 1.7, which is much lower than the average Prader score of 3.73 in those not treated. While our data demonstrate no significant abnormalities in the long-range medical and cognitive outcomes in patients prenatally treated with dexamethasone, the current protocol involves invasive procedures such as chorionic villus sampling or amniocentesis, and all fetuses are treated unnecessarily for several weeks before the sex and the affection status of the fetus is known. We are collaborating with Dr. Dennis Lo in Hong Kong to develop a noninvasive protocol, whereby at the sixth to seventh week of gestation we can determine the sex and the affection status of the fetus by harvesting fetal DNA from the maternal plasma. The method will eliminate invasive procedures and unnecessary prenatal treatment and bring noninvasive prenatal diagnosis to underdeveloped areas where amniocentesis and chorionic villus sampling are not available. PMID:23044876

  8. 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.

  9. 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

  10. 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

  11. 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

  12. Attitudes of young adults to prenatal screening and genetic correction for human attributes and psychiatric conditions.

    PubMed

    Milner, K K; Collins, E E; Connors, G R; Petty, E M

    1998-03-01

    With recent advances in DNA technology, questions have arisen as to how this technology should be appropriately used. In this article, results obtained from a survey designed to elicit attitudes of college students to prenatal testing and gene therapy for human attributes and psychiatric conditions are reported. The eleven hypothetical disease phenotypes included schizophrenia, alcoholism, tendency toward violent behavior, attention deficit/hyperactivity disorder, depression requiring medical treatment, obesity, involvement in "dangerous" sports activities, homosexuality, borderline normal IQ (80-100), proportional short stature, and inability to detect perfect pitch. Most students supported prenatal genetic testing for psychiatric disorders and behavior that might result in harm to others (i.e., tendency towards violent behavior) and found prenatal genetic testing for human attributes less desirable. However, the lack of unilateral agreement or disagreement toward any one condition or attribute suggests the potential difficulties ahead in the quest for guidelines for the application of new technologies available to manipulate the human genome. PMID:9511972

  13. 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

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

    PubMed Central

    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

  15. Sonographic findings of uterine rupture with expulsion of the fetus into broad ligament.

    PubMed

    Attarde, Vinod Yadav; Patil, Parag; Chaudhari, Ritu; Zope, Narendra; Apte, Abhang

    2009-01-01

    We report the sonographic findings of a rare case of uterine rupture with extrusion of the fetus into the broad ligament during a second-trimester abortion. Sonography revealed the empty uterus with an indistinct defect on the side wall and the dead fetus lying outside, surrounded by a thin membrane. At surgery, the uterine rupture was confirmed with the fetus lying in the broad ligament. This study shows the importance of timely sonography in second-trimester abortion, enabling immediate management and preventing further complications. PMID:18412233

  16. 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

  17. Prenatal Ultrasound Screening for Fetal Anomalies and Outcomes in High-Risk Pregnancies due to Maternal HIV Infection: A Retrospective Study

    PubMed Central

    Reitter, A.; Stücker, A. U.; Buxmann, H.; Herrmann, E.; Haberl, A. E.; Schlößer, R.; Louwen, F.

    2013-01-01

    Objective. To assess the prevalence of prenatal screening and of adverse outcome in high-risk pregnancies due to maternal HIV infection. Study Design. The prevalence of prenatal screening in 330 pregnancies of HIV-positive women attending the department for prenatal screening and/or during labour between January 1, 2002 and December 31, 2012, was recorded. Screening results were compared with the postnatal outcome and maternal morbidity, and mother-to-child transmission (MTCT) was evaluated. Results. One hundred of 330 women (30.5%) had an early anomaly scan, 252 (74.5%) had a detailed scan at 20–22 weeks, 18 (5.5%) had a detailed scan prior to birth, and three (0.9%) had an amniocentesis. In seven cases (2.12%), a fetal anomaly was detected prenatally and confirmed postnatally, while in eight (2.42%) an anomaly was only detected postnatally, even though a prenatal scan was performed. There were no anomalies in the unscreened group. MTCT occurred in three cases (0.9%) and seven fetal and neonatal deaths (2.1%) were reported. Conclusion. The overall prevalence of prenatal ultrasound screening in our cohort is 74.5%, but often the opportunity for prenatal ultrasonography in the first trimester is missed. In general, the aim should be to offer prenatal ultrasonography in the first trimester in all pregnancies. This allows early reassurance or if fetal disease is suspected, further steps can be taken. PMID:24194633

  18. Sonographic findings in bacterial meningitis in neonates and young infants.

    PubMed

    Yikilmaz, Ali; Taylor, George A

    2008-02-01

    Cranial sonography plays an important role in the initial evaluation of infants with suspected bacterial meningitis and in monitoring for complications of the disease. Echogenic widening of the brain sulci, meningeal thickening and hyperemia suggest the diagnosis in an at-risk population. Sonography can identify the presence of extra-axial fluid collections, and color Doppler sonography can be very helpful in differentiating benign enlargement of subarachnoid spaces from subdural effusions. Intraventricular debris and stranding, and an irregular and echogenic ependyma are highly suggestive findings associated with ventriculitis. Sonography can play an important role in the detection of postinfectious hydrocephalus, in the determination of the level of obstruction, and in the evaluation of intracranial compliance. Focal or diffuse parenchymal involvement can represent parenchymal involvement by cerebritis, infarction, secondary hemorrhage or early abscess. PMID:17611750

  19. 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

  20. 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

  1. 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

  2. Kasabach-Merritt phenomenon and prenatal counseling: a case series.

    PubMed

    Beissel, Anne; Riou, Stéphanie; Fischer Fumeaux, Céline Julie; Cassart, Marie; Blanc, Sébastien; Claris, Olivier; Guibaud, Laurent

    2016-07-01

    Kasabach-Merritt phenomenon can be encountered in the perinatal period. No consensus exists regarding prenatal management. We report one prenatal case leading to therapeutic abortion and one neonatal case, successfully treated by a multimodal therapy. Prenatal counseling should include the possibility of neonatal multimodal treatment that can lead to favorable outcomes. PMID:27386131

  3. Women's experience of group prenatal care.

    PubMed

    Novick, Gina; Sadler, Lois S; Kennedy, Holly Powell; Cohen, Sally S; Groce, Nora E; Knafl, Kathleen A

    2011-01-01

    Group prenatal care (GPNC) is an innovative alternative to individual prenatal care. In this longitudinal study we used ethnographic methods to explore African American and Hispanic women's experiences of receiving GPNC in two urban clinics. Methods included individual, in-depth, semistructured interviews of women and group leaders in GPNC, participant observation of GPNC sessions, and medical record review. GPNC offered positive experiences and met many of women's expressed preferences regarding prenatal care. Six themes were identified, which represented separate aspects of women's experiences: investment, collaborative venture, a social gathering, relationships with boundaries, learning in the group, and changing self. Taken together, the themes conveyed the overall experience of GPNC. Women were especially enthusiastic about learning in groups, about their relationships with group leaders, and about having their pregnancy-related changes and fears normalized; however, there were also important boundaries on relationships between participants, and some women wished for greater privacy during physical examinations. PMID:20693516

  4. Prenatal chromosomal microarray for the Catholic physician

    PubMed Central

    Bringman, Jay J.

    2014-01-01

    Prenatal chromosomal microarray (CMA) is a test that is used to diagnose certain genetic problems in the fetus. While the test has been used in the pediatric setting for several years, it is now being introduced for use in the prenatal setting. The test offers great hope for detection of certain genetic defects in the fetus so that early intervention can be performed to improve the outcome for that individual. As with many biotechnical advances, CMA comes with certain bioethical issues that need to be addressed prior to its implementation. This paper is intended to provide guidance to all those that provide counseling regarding genetic testing options during pregnancy. PMID:24899750

  5. Hydronephrosis: prenatal and postnatal evaluation and management.

    PubMed

    Liu, Dennis B; Armstrong, William R; Maizels, Max

    2014-09-01

    Antenatal hydronephrosis (ANH) is one of the most frequently detected abnormalities found on routine prenatal ultrasounds, affecting 1% to 4.5% of all pregnancies. Despite its prevalence, there continues to be uncertainty regarding the clinical impact after birth. Prognosis depends on the severity of the dilation. Expectant prenatal management is the rule with fetal intervention rarely needed in a few select cases. Ureteropelvic junction obstruction and vesicoureteral reflux are the most common postnatal diagnoses. A renal and bladder ultrasound is essential in the follow-up of patients with ANH and helps dictate further investigation with voiding cystourethrography and/or diuretic renography. PMID:25155734

  6. Prenatal diagnosis of a paraurethral cyst.

    PubMed

    Johnson, Clark T; Millard, Sarah E; Wang, Ming-Hsien; Ehsanipoor, Robert M

    2013-02-01

    Paraurethral cysts arising from Skene's gland are a rare cause of urogenital masses in the neonate. We report the case of a pelvic mass noted at the vaginal introitus on prenatal ultrasound that following delivery was found to be a paraurethral cyst. On prenatal ultrasound, there was no evidence of involvement of the urinary, gastrointestinal, or upper genital tract. Serial ultrasounds demonstrated slight enlargement of the cyst without other changes. The patient delivered at 33 weeks and postnatal evaluation demonstrated a paraurethral cyst. The cyst was managed expectantly and drained spontaneously on the second day of life with complete resolution. PMID:23146295

  7. Prenatal lead exposure, delta-aminolevulinic acid, and schizophrenia.

    PubMed Central

    Opler, Mark G A; Brown, Alan S; Graziano, Joseph; Desai, Manisha; Zheng, Wei; Schaefer, Catherine; Factor-Litvak, Pamela; Susser, Ezra S

    2004-01-01

    Schizophrenia is a severe mental disorder of unknown etiology. Recent reports suggest that a number of environmental factors during prenatal development may be associated with schizophrenia. We tested the hypothesis that environmental lead exposure may be associated with schizophrenia using archived serum samples from a cohort of live births enrolled between 1959 and 1966 in Oakland, California. Cases of schizophrenia spectrum disorder were identified and matched to controls. A biologic marker of lead exposure, delta-aminolevulinic acid (delta-ALA), was determined in second-trimester serum samples of 44 cases and 75 controls. delta-ALA was stratified into high and low categories, yielding 66 subjects in the high category, corresponding to a blood lead level (BPb) greater than or equal to 15 micro g/dL, and 53 in the low category, corresponding to BPb less than 15 micro g/dL. Using logistic regression, the odds ratio (OR) for schizophrenia associated with higher delta-ALA was 1.83 [95% confidence interval (CI), 0.87-3.87; p = 0.1]. Adjusting for covariates gave an OR of 2.43 (95% CI, 0.99-5.96; p = 0.051). This finding suggests that the effects of prenatal exposure to lead and/or elevated delta-ALA may extend into later life and must be further investigated as risk factors for adult psychiatric diseases. PMID:15064159

  8. Prenatal diagnosis of dextrotransposition of the great arteries.

    PubMed

    Hung, Jeng-Hsiu; Huang, Pi-Tao; Weng, Zen-Chung; Chen, Chih-Yao; Chao, Kuan-Chong; Yang, Ming-Jie; Hung, Jamie

    2008-10-01

    Dextrotransposition of the great arteries (DTGA) is a common cardiac cause of cyanosis in newborn infants that can cause acidosis and death within a short period of time unless there is a large atrial-level shunt or a patent ductus arteriosus. Here, we report a case of prenatal diagnosis of DTGA at 24+1 gestational weeks. In a tilted 4-chamber view, the pulmonary trunk branched to the left and the right pulmonary, with its root connected to the left ventricle outflow tract. In the short-axis view, the pulmonary trunk was shown to be parallel with the ascending aortic root. Cesarean section was performed due to the nonreassuring fetal status at 38+5 gestational weeks. The male neonate appeared to have mild cyanotic symptoms and weighed 3,108 g. Apgar scores were 8 and 9 at 1 and 5 minutes, respectively. Neonatal echocardiography was performed immediately after birth and the findings confirmed DTGA associated with atrial septal defect secundum. Postnatally, angiography confirmed the echocardiographic diagnosis of DTGA with a large atrial septal defect secundum and a large patent ductus arteriosus. Jatene arterial switch operation and atrial septal defect closure with Gore-Tex patch were performed. The neonate withstood the operation well and was discharged 27 days after birth weighing 2,950 g and in a stable condition. Prenatal diagnosis of DTGA can greatly aid to prepare the patient's family and the surgeon and significantly improve the outcome of complex heart disease in the neonatal period. PMID:18955191

  9. 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

  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. PMID:25052315

  11. Impact of Cell-Free Fetal DNA Screening on Patients’ Choice of Invasive Procedures after a Positive California Prenatal Screen Result

    PubMed Central

    Shah, Forum T.; Steinhaus French, Kathryn; Osann, Kathryn E.; Bocian, Maureen; Jones, Marilyn C.; Korty, Lauren

    2014-01-01

    Until recently, maternal serum analyte levels paired with sonographic fetal nuchal translucency measurement was the most accurate prenatal screen available for Trisomies 18 and 21, (91% and 94% detection and false positive rates of 0.31% and 4.5% respectively). Women with positive California Prenatal Screening Program (CPSP) results have the option of diagnostic testing to determine definitively if the fetus has a chromosomal abnormality. Cell-free fetal (cff-) DNA screening for Trisomies 13, 18, and 21 was first offered in 2012, allowing women with positive screens to choose additional screening before diagnostic testing. Cff-DNA sensitivity rates are as high as 99.9% and 99.1%, with false positive rates of 0.4% and 0.1%, for Trisomies 18 and 21, respectively. A retrospective chart review was performed in 2012 on 500 CPSP referrals at the University of California, San Diego Thornton Hospital. Data were collected prior to and after the introduction of cff-DNA. There was a significant increase in the number of participants who chose to pursue additional testing and a decrease in the number of invasive procedures performed after cff-DNA screening was available. We conclude that as fetal aneuploidy screening improves, the number of invasive procedures will continue to decrease. PMID:26237481

  12. Prenatal diagnosis of Wolf-Hirschhorn syndrome confirmed by comparative genomic hybridization array: report of two cases and review of the literature.

    PubMed

    Sifakis, Stavros; Manolakos, Emmanouil; Vetro, Annalisa; Kappou, Dimitra; Peitsidis, Panagiotis; Kontodiou, Maria; Garas, Antonios; Vrachnis, Nikolaos; Konstandinidou, Anastasia; Zuffardi, Orsetta; Orru, Sandro; Papoulidis, Ioannis

    2012-01-01

    Wolf-Hirschhorn syndrome (WHS) is a well known genetic condition caused by a partial deletion of the short arm of chromosome 4. The great variability in the extent of the 4p deletion and the possible contribution of additional genetic rearrangements lead to a wide spectrum of clinical manifestations. The majority of the reports of prenatally diagnosed WHS cases are associated with large 4p deletions identified by conventional chromosome analysis; however, the widespread clinical use of novel molecular techniques such as array comparative genomic hybridization (a-CGH) has increased the detection rate of submicroscopic chromosomal aberrations associated with WHS phenotype. We provide a report of two fetuses with WHS presenting with intrauterine growth restriction as an isolated finding or combined with oligohydramnios and abnormal Doppler waveform in umbilical artery and uterine arteries. Standard karyotyping demonstrated a deletion on chromosome 4 in both cases [del(4)(p15.33) and del(4)(p15.31), respectively] and further application of a-CGH confirmed the diagnosis and offered a precise characterization of the genetic defect. A detailed review of the currently available literature on the prenatal diagnostic approach of WHS in terms of fetal sonographic assessment and molecular cytogenetic investigation is also provided. PMID:22373435

  13. Impact of Cell-Free Fetal DNA Screening on Patients' Choice of Invasive Procedures after a Positive California Prenatal Screen Result.

    PubMed

    Shah, Forum T; French, Kathryn Steinhaus; Osann, Kathryn E; Bocian, Maureen; Jones, Marilyn C; Korty, Lauren

    2014-01-01

    Until recently, maternal serum analyte levels paired with sonographic fetal nuchal translucency measurement was the most accurate prenatal screen available for Trisomies 18 and 21, (91% and 94% detection and false positive rates of 0.31% and 4.5% respectively). Women with positive California Prenatal Screening Program (CPSP) results have the option of diagnostic testing to determine definitively if the fetus has a chromosomal abnormality. Cell-free fetal (cff-) DNA screening for Trisomies 13, 18, and 21 was first offered in 2012, allowing women with positive screens to choose additional screening before diagnostic testing. Cff-DNA sensitivity rates are as high as 99.9% and 99.1%, with false positive rates of 0.4% and 0.1%, for Trisomies 18 and 21, respectively. A retrospective chart review was performed in 2012 on 500 CPSP referrals at the University of California, San Diego Thornton Hospital. Data were collected prior to and after the introduction of cff-DNA. There was a significant increase in the number of participants who chose to pursue additional testing and a decrease in the number of invasive procedures performed after cff-DNA screening was available. We conclude that as fetal aneuploidy screening improves, the number of invasive procedures will continue to decrease. PMID:26237481

  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. 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.

  16. 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

  17. 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

  18. Prenatal programming-effects on blood pressure and renal function.

    PubMed

    Ritz, Eberhard; Amann, Kerstin; Koleganova, Nadezda; Benz, Kerstin

    2011-03-01

    Impaired intrauterine nephrogenesis-most clearly illustrated by low nephron number-is frequently associated with low birthweight and has been recognized as a powerful risk factor for renal disease; it increases the risks of low glomerular filtration rate, of more rapid progression of primary kidney disease, and of increased incidence of chronic kidney disease or end-stage renal disease. Another important consequence of impaired nephrogenesis is hypertension, which further amplifies the risk of onset and progression of kidney disease. Hypertension is associated with low nephron numbers in white individuals, but the association is not universal and is not seen in individuals of African origin. The derangement of intrauterine kidney development is an example of a more general principle that illustrates the paradigm of plasticity during development-that is, that transcription of the genetic code is modified by epigenetic factors (as has increasingly been documented). This Review outlines the concept of prenatal programming and, in particular, describes its role in kidney disease and hypertension. PMID:21283139

  19. 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

  20. An update on current prenatal testing options: first trimester and noninvasive prenatal testing.

    PubMed

    Latendresse, Gwen; Deneris, Angela

    2015-01-01

    Prenatal genetic testing is rapidly evolving and requires that prenatal care providers stay up-to-date with accurate, evidence-based knowledge. Noninvasive prenatal testing (NIPT), first trimester maternal serum markers, and fetal nuchal translucency are the most recently developed screening tests added to the testing repertoire for detection of chromosomal disorders such as trisomy 21 (Down syndrome). NIPT is a new, highly accurate technique that uses maternal serum and is rapidly being introduced as a first trimester screening tool and increasingly being requested by pregnant women. The American College of Obstetricians and Gynecologists recommends that all pregnant women be offered first and second trimester screening options, regardless of risk status, but does not yet recommend NIPT. It is important for prenatal care providers to be aware of and understand these testing options in order to assist women and their families in making well-informed decisions during pregnancy. The purpose of this article is to update midwives and other prenatal care providers on the current prenatal genetic testing options available and how to appropriately offer and discuss them with their clients. We discuss how these tests work; what to do with the results; and most importantly, how to support and communicate accurate information to women and families as they navigate through an increasingly complicated array of testing choices. PMID:25712277

  1. Neonatal periventricular leukomalacia: real-time sonographic diagnosis with CT correlation

    SciTech Connect

    Chow, P.P.; Horgan, J.G.; Taylor, K.J.W.

    1985-07-01

    The utility of real-time sonography in the diagnosis of neonatal periventricular leukomalacia (PVL) has been described only recently. Six cases are reported of PVL diagnosed by serial real-time scanning. The sonographic findings were correlated with the computed tomographic findings and the clinical history. In five of six infants in whom scanning was performed, characteristic multiseptated periventricular cavitations developed 2-3 weeks after birth or later. A transition from normal to increased periventricular echogenicity was often observed before the development of the periventricular cavitations in nonhemorrhagic PVL. The parenchymal abnormality demonstrated by sonography correlated well with an abnormal neurologic outcome. It is suggested that serial real-time scanning be performed in neonates whose history suggests the possibility of hypoxic-ischemic brain injury. Nonspecific predictors of PVL include seizures, apnea, disturbed mental status, abnormal muscle tone, and leg weakness.

  2. 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. PMID:26945217

  3. Laboratory and sonographic findings in dialyzed patients with bilateral chronic knee pain versus dialyzed asymptomatic patients.

    PubMed

    Barisić, Igor; Ljutić, Dragan; Vlak, Tonko; Bekavac, Josip; Janković, Stipan

    2007-06-01

    The aim of this study is to evaluate connection of plasma level of beta2-microglobulin, C-reactive protein and uric acid as well as sonographic parameters like thickness of synovial membrane, thickness of femoral condylar cartilage and presence of joint effusion and Baker's cysts with bilateral knee pain in dialyzed patients, comparing them with parameters in asymptomatic dialyzed patients. Plasma levels of beta2-microglobulin and C-reactive protein were significantly higher in symptomatic patients while uric acid level showed no difference among the groups. In symptomatic patients synovial membrane was thicker and in those patients there were more knee effusions and Baker's cysts. Thickness of femoral condylar cartilage showed no difference between groups. That suggests that inflammatory mechanisms developing from beta2-microglobulin accumulation could be important factor in bilateral knee pain in dialyzed patients even in shorter duration dialysis. PMID:17847928

  4. Prevalence and significance of subchorionic hemorrhage in threatened abortion: a sonographic study.

    PubMed

    Pedersen, J F; Mantoni, M

    1990-03-01

    We performed a prospective study to determine the prevalence and significance of subchorionic hematomas in patients with symptoms of threatened abortion. The study comprised 342 pregnant women who had vaginal bleeding in weeks 9-20 of pregnancy and a live fetus shown with sonography. Sonograms showed a subchorionic hematoma in 62 patients (18%). The average size of the hematoma was 20 ml (range, 2-150 ml). The rate of spontaneous abortion was the same in patients with and without hematoma, seven (11%) of 62 and 28 (10%) of 280, respectively. There was no association between abortion rate and hematoma size. The rate of premature delivery was the same in patients with and without hematoma, seven (11%) of 62 and 32 (11%) of 280, respectively. There was no association between the rate of premature delivery and hematoma size. Subchorionic hematomas are common and insignificant sonographic findings in patients with vaginal bleeding in weeks 9-20 of pregnancy. PMID:2106217

  5. 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,…

  6. MALDI-TOF MS in Prenatal Genomics

    PubMed Central

    Zhong, Xiao Yan; Holzgreve, Wolfgang

    2009-01-01

    Summary Prenatal diagnosis aims either to provide the reassurance to the couples at risk of having an affected child by timely appropriate therapy or to give the parents a chance to decide the fate of the unborn babies with health problems. Invasive prenatal diagnosis (IPD) is accurate, however, carrying a risk of miscarriage. Non-invasive prenatal diagnosis (NIPD) has been developed based on the existing of fetal genetic materials in maternal circulation; however, a minority fetal DNA in majority maternal background DNA hinders the detections of fetal traits. Different protocols and assays, such as homogenous MassEXTEND (hME), single allele base extension reaction (SABER), precise measuring copy number variation of each allele, and quantitative methylation and expression analysis using the high-throughput sensitive matrix-assisted laser desorption/ionization-time of flight mass spectrometry (MALDI-TOF MS), allow NIPD for single gene disorders, fetal blood group genotyping and fetal aneuploidies as well as the development of fetal gender-independent biomarkers in maternal circulation for management of pathological pregnancies. In this review, we summarise the use of MALDI-TOF MS in prenatal genomics. PMID:21049077

  7. 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…

  8. 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

  9. Prenatal care in your first trimester

    MedlinePlus

    ... first visit, your doctor or midwife will draw blood for a group of tests known as the prenatal panel. These tests are done to find problems or infections early in the pregnancy. ... blood count (CBC) Blood typing (including Rh screen) Rubella ...

  10. Noninvasive Prenatal Molecular Karyotyping from Maternal Plasma

    PubMed Central

    Yu, Stephanie C. Y.; Jiang, Peiyong; Choy, Kwong W.; Chan, Kwan Chee Allen; Won, Hye-Sung; Leung, Wing C.; Lau, Elizabeth T.; Tang, Mary H. Y.; Leung, Tak Y.; Lo, Yuk Ming Dennis; Chiu, Rossa W. K.

    2013-01-01

    Fetal DNA is present in the plasma of pregnant women. Massively parallel sequencing of maternal plasma DNA has been used to detect fetal trisomies 21, 18, 13 and selected sex chromosomal aneuploidies noninvasively. Case reports describing the detection of fetal microdeletions from maternal plasma using massively parallel sequencing have been reported. However, these previous reports were either polymorphism-dependent or used statistical analyses which were confined to one or a small number of selected parts of the genome. In this report, we reported a procedure for performing noninvasive prenatal karyotyping at 3 Mb resolution across the whole genome through the massively parallel sequencing of maternal plasma DNA. This method has been used to analyze the plasma obtained from 6 cases. In three cases, fetal microdeletions have been detected successfully from maternal plasma. In two cases, fetal microduplications have been detected successfully from maternal plasma. In the remaining case, the plasma DNA sequencing result was consistent with the pregnant mother being a carrier of a microduplication. Simulation analyses were performed for determining the number of plasma DNA molecules that would need to be sequenced and aligned for enhancing the diagnostic resolution of noninvasive prenatal karyotyping to 2 Mb and 1 Mb. In conclusion, noninvasive prenatal molecular karyotyping from maternal plasma by massively parallel sequencing is feasible and would enhance the diagnostic spectrum of noninvasive prenatal testing. PMID:23613765

  11. 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…

  12. Sonograph mosaic of northern California and southern Oregon Exclusive Economic Zone

    SciTech Connect

    Cacchione, D.A.; Drake, D.E.; Clarke, S.H.; Masson, D.G.

    1985-02-01

    During June 15 to July 9, 1984, the third leg of the cooperative US Geological Survey-Institute of Oceanographic Sciences GLORIA survey of the conterminous US Exclusive Economic Zone (EEZ) collected digital acoustic data off northern California and southern Oregon. The region covered during leg 3 extends from the 200-m isobath westward to the 375-km (200-nmi) EEZ boundary and from about 39/sup 0/ to 43/sup 0/N. The survey used the IOS GLORIA long-range side-scan sonar, a 2-channel airgun seismic reflection system, and 3.5 kHz and 10 kHz high-resolution seismic systems. The GLORIA data were collected in a pattern that permitted overlapping coverage so that a mosaic of the sonographs could be constructed. These sonographs were slant-range and anamorphically corrected aboard ship, and a mosaic was constructed at a scale of 1:375,000. Among the most striking geomorphic features revealed in this segment of the EEZ is the Mendocino transform fault, which extends for more than 120 nmi along the northern base of the Mendocino fracture zone and delineates the southern boundary of the Gorda plate. Other features clearly revealed are the complex geometry of the Gorda rift valley, and the subparallel flanking ridges and dramatically deformed base of the continental slope at the eastern boundary of the Gorda plate. The data are presently being processed by image analytical techniques to enhance the fine-scale features such as sediment waves, slumps, and areas of differing sedimentary facies.

  13. 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.

  14. Correlation between Central Venous Pressure and Inferior Vena Cava Sonographic Diameter; Determining the Best Anatomic Location

    PubMed Central

    Naghipour, Bahman; Faridaalaee, Gholamreza

    2016-01-01

    Introduction: The correlation of central venous pressure (CVP) with inferior vena cava (IVC) sonographic diameter has been reported in several studies. However, few studies have attempted to find the best anatomic location of measurement. Therefore, the purpose of this study was determining the best anatomic location to find precise correlation between CVP and IVC diameter using transesophageal echocardiography (TEE). Methods: In the present diagnostic accuracy study, patients in need of central venous catheterization and TEE were enrolled. Maximum diameter of IVC were measured during expiratory phase of respiratory cycle at the level of diaphragm, 2cm above the diaphragm and at the point of entry into the right atrium using SonoSite TEE device. CVP was measured using an electronic transducer connected to the central venous line. The best location for sonography was determined via calculating and comparing area under the receiver operating characteristics (ROC) curve (AUC). Results: 39 patients were enrolled (53.8% female). Mean CVP was 6.8 ± 1.4 mmHg and 25 (64.1%) patients had normal CVP, while 14 (35.9%) showed elevated CVP (> 6 mmHg). Evaluating AUC showed that IVC diameter (p = 0.01), aorta diameter (p = 0.01) and IVC / aorta ratio (p = 0.004) had acceptable correlation with CVP. Point of entry of IVC into the right atrium with AUC of 0.98 (95% CI: 0.95 – 1.00) was the location of highest correlation with CVP. Conclusion: Based on the present findings, the IVC sonographic diameter and IVC / aorta ratio had acceptable correlation with CVP at the level of IVC entry into the right atrium.

  15. Ultrasound elastography using carotid artery pulsation in the differential diagnosis of sonographically indeterminate thyroid nodules.

    PubMed

    Choi, Woo Jung; Park, Jeong Seon; Koo, Hye Ryoung; Kim, Soo-Yeon; Chung, Min Sung; Tae, Kyung

    2015-02-01

    OBJECTIVE. The purpose of this study was to evaluate the diagnostic performance of gray-scale ultrasound and a new method of thyroid ultrasound elastography using carotid artery pulsation in the differential diagnosis of sonographically indeterminate thyroid nodules. MATERIALS AND METHODS. A total of 102 thyroid nodules with indeterminate gray-scale ultrasound features from 102 patients (20 males and 82 females; age range, 16-74 years; mean age, 51 years) were included. The gray-scale ultrasound images of each nodule were reviewed and assigned a score from 1 (low) to 5 (high) according to the possibility of malignancy. Ultrasound elastography was performed using carotid pulsation as the compression source. The elasticity contrast index (ECI), which quantifies local strain contrast within a nodule, was automatically calculated. The radiologist reassessed the scores after concurrently reviewing gray-scale ultrasound and elastography. ROC curve analysis was used to evaluate the diagnostic performances of each dataset and to compare the AUC (Az) values of gray-scale ultrasound score alone, ECI alone, and a combined assessment. RESULTS. Significantly more malignant thyroid nodules were hypoechoic than benign nodules (p = 0.014). The ECI was significantly higher in malignant nodules than in benign thyroid nodules. The Az values of each dataset were 0.755 (95% CI, 0.660-0.835) for gray-scale ultrasound score, 0.835 (0.748-0.901) for ECI, and 0.853 (0.769-0.915) for a combined assessment. The Az value for a combined assessment of the gray-scale ultrasound score and the ECI was significantly higher than that for the gray-scale ultrasound score alone (p = 0.022). CONCLUSION. Combined assessment with gray-scale ultrasound and elastography using carotid artery pulsation is helpful for characterizing sonographically indeterminate thyroid nodules as benign or malignant. PMID:25615763

  16. 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

  17. Prenatal diagnosis of lethal osteogenesis imperfecta in twin pregnancy.

    PubMed

    Morin, L R; Herlicoviez, M; Loisel, J C; Jacob, B; Feuilly, C; Stanescu, V

    1991-06-01

    Lethal osteogenesis imperfecta was diagnosed at 27 weeks amenorrea in one fetus of a bichorial twin pregnancy. Sonographic findings included: short-limb dwarfism, hypotrophy and hypoechoic bones. The affected fetus was so translucent that only the normal fetus could be seen on plain in utero radiography. The affected fetus died immediately after birth. Postmortem radiography and histology were typical of lethal osteogenesis imperfecta of type IIA. Aids to the etiological diagnosis of in utero dwarfism are presented. Sonographic features correlated with neonatal death are described. PMID:1863995

  18. 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. PMID:20471091

  19. 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

  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. 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

  2. Prenatal diagnosis of central nervous system abnormalities.

    PubMed

    Angtuaco, E E; Angtuaco, T L; Angtuaco, E J

    1994-01-01

    Fetal anomalies have been the subject of innumerable publications both in the prenatal and neonatal literature. This has significantly increased in the last 10 years, mainly because of the advent of high-resolution ultrasound equipment and improvement of scanning techniques. In addition, guidelines issued by professional organizations involved in prenatal diagnosis have encouraged a more universal approach to the imaging and documentation of prenatal findings. The fetal central nervous system is the most frequently investigated organ system, mainly because of its easy accessibility and prominence even in the early stages of embryologic development. The biparietal diameter was the first fetal measurement to be widely used in determining gestational age. As investigators gained more experience, the appearance of ultrasound images achieved the resolution that allows direct comparisons with gross specimens and more recent sophisticated techniques of computed tomography and magnetic resonance imaging. Now endovaginal ultrasound can document early first trimester development and compare it to known embryologic landmarks. Interest in demonstrating the ultrasound counterpart of central nervous system structures in the early stages of development has resulted in a plethora of articles proving the unique ability of ultrasound in imaging the developing fetus. In view of all these developments, the beginning ultrasound specialist is faced with the challenge and responsibility not only of being familiar with the literature but also of the mastery of scanning techniques that allow accurate prenatal diagnosis. It is therefore helpful to review key developmental milestones in embryologic life and correlate them with the corresponding prenatal ultrasound appearance. In addition, the changing appearance of the developing fetus has created a need for a systematic approach in the evaluation of structures so routine protocols can be established. This has been the subject of other

  3. Signet-ring cell carcinoma of the appendix: a case report with an emphasis on sonographic findings.

    PubMed

    Cho, Young Jong; Kim, Hyuk Jung; Jang, Suk Ki; Yeon, Jae Woo; Kim, Ki-Ho; Paik, So Ya

    2016-04-01

    In this report, we present a rare case of primary signet-ring cell carcinoma of the appendix in a 51-year-old woman with right lower quadrant pain. Since non-specific concentric appendiceal wall thickening was found in a radiologic evaluation, it was misdiagnosed as non-tumorous appendicitis. An in-depth examination of the correlation between sonographic and histopathologic findings demonstrated that a single markedly thickened hypoechoic layer was well correlated with the diffuse infiltration of tumor cells in both the submucosal and muscle layers. If this sonographic finding is observed in certain clinical settings, such as potential ovarian and peritoneal metastasis, submucosal infiltrative tumors, including signet-ring cell carcinoma, should be considered in the differential diagnosis. PMID:26753605

  4. 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

  5. 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.

  6. 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

  7. Prenatal stress induces vulnerability to nicotine addiction and alters D2 receptors' expression in the nucleus accumbens in adult rats.

    PubMed

    Said, N; Lakehayli, S; El Khachibi, M; El Ouahli, M; Nadifi, S; Hakkou, F; Tazi, A

    2015-09-24

    Prenatal stress (PS) can induce several long-lasting behavioral and molecular abnormalities in rats. It can also be considered as a risk factor for many psychiatric diseases like schizophrenia, depression or PTSD and predispose to addiction. In this study, we investigated the effect of prenatal stress on the reinforcing properties of nicotine in the CPP paradigm. Then, we examined the mRNA expression of the D2 dopaminergic receptors using the quantitative real-time PCR technique in the nucleus accumbens (NAcc). We found that prenatally stressed rats exhibited a greater place preference for the nicotine-paired compartment than the control rats. Moreover, we observed an overexpression of the DRD2 gene in adult offspring stressed in utero and a downregulation in the PS NIC group (PS rats treated with nicotine) compared with their control counterparts (C NIC). These data suggest that maternal stress can permanently alter the offspring's addictive behavior and D2 receptors' expression. PMID:26192093

  8. Contrast-enhanced sonographically guided thermal ablation for treatment of solid-organ hemorrhage: preliminary clinical results.

    PubMed

    Zhou, Luyao; Kuang, Ming; Xu, Zuofeng; Xie, Xiaoyan; Lu, Mingde

    2015-05-01

    The purpose of this series was to preliminarily evaluate the use of contrast-enhanced sonographically guided percutaneous thermal ablation in the evaluation and treatment of solid-organ bleeding by retrospectively analyzing 6 cases observed in clinical practice. Six patients who underwent contrast-enhanced sonographically guided thermal ablation for treatment of solid-organ bleeding (5 in liver and 1 in spleen) from December 2005 to August 2012 were included in this series. Clinical information, contrast-enhanced sonograms before and after ablation, and the ablation method were retrospectively collected and analyzed. In 5 of the 6 patients, the location of the bleeding lesion was clearly seen. Hemostasis was successfully achieved in 4 of these 5 patients: 1 by radiofrequency ablation and 3 by microwave ablation. Ablation failed to achieve hemostasis in 1 patient who had postbiopsy splenic arterial bleeding because the bleeding vessel was a thick branch of the splenic artery. In the sixth remaining patient, who had bleeding after liver biopsy, hemostasis failed because contrast-enhanced sonography did not precisely locate the bleeding lesion; hence, the ablation zone did not cover the whole lesion. Contrast-enhanced sonographically guided ablation can be an alternative choice for treating solid-organ bleeding because of its effectiveness and minimal invasiveness. However, it should be carefully investigated for those in whom the bleeding lesion cannot be located by contrast-enhanced sonography and in those who have bleeding in a large vessel. PMID:25911724

  9. 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

  10. 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

  11. Teaching prenatal ultrasound to family medicine residents.

    PubMed

    Dresang, Lee T; Rodney, William MacMillan; Dees, Jason

    2004-02-01

    Prenatal ultrasound is a powerful diagnostic tool, but there has been little research on how to teach ultrasound to family physicians. The available evidence supports teaching through didactics followed by supervised scanning. Didactic topics include physics and machine usage, indications, fetal biometry, anatomic survey, practice management, ethical issues, and resources. Supervised scanning reinforces the didactic components of training. A "hand-on-hand" supervised scanning technique is recommended for the transmission of psychomotor skills in these sessions. Curricula for teaching ultrasound should include information on which residents will be taught prenatal ultrasound, who will teach them, how to create time for learning ultrasound skills, and how to test for competency. The literature suggests that competency can be achieved within 25-50 supervised scans. Measures of competency include examination and qualitative analysis of scanning. Competency-based testing needs further development because no uniform standards have been established. PMID:14872356

  12. 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

  13. 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

  14. Cerebral ultrasound images in prenatal cytomegalovirus infection.

    PubMed

    Tomà, P; Magnano, G M; Mezzano, P; Lazzini, F; Bonacci, W; Serra, G

    1989-01-01

    A male newborn with prenatal cytomegalovirus infection was referred for cranial ultrasound. The cranial ultrasound demonstrated areas of increased echogenicity in the thalamic and gray nuclei resembling "a branched candlestick". Doppler technique located the "branched candlestick" along the thalamostriate arteries. This image is particularly interesting because to our knowledge it has never before been described in congenital cytomegalovirus infection, but only in congenital rubella. PMID:2550848

  15. Urinary biomarkers in prenatally diagnosed unilateral hydronephrosis.

    PubMed

    Madsen, Mia Gebauer; Nørregaard, Rikke; Frøkiær, Jørgen; Jørgensen, Troels Munch

    2011-04-01

    The introduction of prenatal ultrasonography as a screening method entails an increasing number of infants diagnosed with prenatal hydronephrosis. Ureteropelvic junction obstruction accounts for 35% of prenatal hydronephrotic cases. Urinary tract obstruction that occurs during early kidney development affects renal morphogenesis, maturation and growth, and in the most severe cases this will ultimately cause renal insufficiency. A major challenge in the clinical management of these patients is to preserve renal function by selection of the 15%-20% who require early surgical intervention, leaving those for whom watchful waiting may be appropriate because of spontaneous resolution/stabilization without significant loss of renal function. Today, this requires medical surveillance, including repetitive invasive diuretic renograms relying on arbitrary threshold values, and therefore there is a need for non-arbitrary, non-invasive urinary biomarkers that may be used as predictors for renal structural changes and/or decreasing renal function, and thereby provide the surgeon with more clear indications for surgical intervention. In this review, we summarize the currently well-known facts about urinary biomarkers in ureteropelvic junction obstruction concerning renal function, and we also suggest potential novel urinary biomarkers. PMID:21220211

  16. 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. PMID:23025348

  17. 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. PMID:25960943

  18. First Trimester Ultrasound in Prenatal Diagnosis—Part of the Turning Pyramid of Prenatal Care

    PubMed Central

    Neiger, Ran

    2014-01-01

    First-trimester sonographic assessment of the risk of chromosomal abnormalities is routinely performed throughout the world, primarily by measuring fetal nuchal translucency thickness between 11–13 weeks’ gestation, combined with assessment of serum markers. The development of high-frequency transvaginal transducers has led to improved ultrasound resolution and better visualization of fetal anatomy during the first-trimester. Continuous improvement in ultrasound technology allows a thorough detailed assessment of fetal anatomy at the time of the nuchal translucency study. Using transabdominal or transvaginal sonography, or a combination of both approaches, it is now possible to diagnose a wide range of fetal anomalies during the first trimester. Multiple studies reported early diagnosis of major fetal anomalies after demonstrating the association of increased nuchal translucency thickness with structural defect in chromosomally normal and abnormal fetuses. Normal sonographic findings provide reassurance for women at high risk while detection of fetal malformation during the first trimester enables discussion and decisions about possible treatments and interventions, including termination of pregnancy, during an early stage of pregnancy. PMID:26237489

  19. Early origins of inflammation: an examination of prenatal and childhood social adversity in a prospective cohort study

    PubMed Central

    Slopen, Natalie; Loucks, Eric B.; Appleton, Allison A.; Kawachi, Ichiro; Kubzansky, Laura D.; Non, Amy L.; Buka, Stephen; Gilman, Stephen E.

    2014-01-01

    Background Children exposed to social adversity carry a greater risk of poor physical and mental health into adulthood. This increased risk is thought to be due, in part, to inflammatory processes associated with early adversity that contribute to the etiology of many adult illnesses. The current study asks whether aspects of the prenatal social environment are associated with levels of inflammation in adulthood, and whether prenatal and childhood adversity both contribute to adult inflammation. Methods We examined associations of prenatal and childhood adversity assessed through direct interviews of participants in the Collaborative Perinatal Project between 1959–1974 with blood levels of C-reactive protein in 355 offspring interviewed in adulthood (mean age=42.2 years). Linear and quantile regression models were used to estimate the effects of prenatal adversity and childhood adversity on adult inflammation, adjusting for age, sex, and race and other potential confounders. Results In separate linear regression models, high levels of prenatal and childhood adversity were associated with higher CRP in adulthood. When prenatal and childhood adversity were analyzed together, our results support the presence of an effect of prenatal adversity on (log) CRP level in adulthood (β=0.73, 95% CI: 0.26, 1.20) that is independent of childhood adversity and potential confounding factors including maternal health conditions reported during pregnancy. Supplemental analyses revealed similar findings using quantile regression models and logistic regression models that used a clinically-relevant CRP threshold (>3 mg/L). In a fully-adjusted model that included childhood adversity, high prenatal adversity was associated with a 3-fold elevated odds (95% CI: 1.15, 8.02) of having a CRP level in adulthood that indicates high risk of cardiovascular disease. Conclusions Social adversity during the prenatal period is a risk factor for elevated inflammation in adulthood independent of

  20. Impact of Maternal Prenatal Stress on Growth of the Offspring

    PubMed Central

    Amugongo, Sarah K.; Hlusko, Leslea J.

    2014-01-01

    Unperturbed fetal development is essential for future health of an individual. Previous studies have linked diseases of aging to harmful alterations that happen during fetal development. Given the significant long-term impact that intrauterine environment has on an individual’s life, it was hypothesized that maternal stress during pregnancy will have negative effects on the offspring’s prenatal and postnatal growth. To test this, twenty-eight female and seven male Wistar rats (Rattus norvegicus) were purchased and bred to produce 176 offspring. During pregnancy, dams were randomly divided into four groups (n=7, per group) and immobilization stress induced as follows; Group 1 (GW1): immobilization stress on days 1–7 of pregnancy, Group 2 (GW2): on days 8–14, Group 3 (GW3): on days 15–21, Group 4 (Controls): left undisturbed. Maternal cortisol hormone, food intake, and weight gain were monitored during pregnancy. Pups were raised under normal laboratory conditions and sacrificed at ages: 4, 8, 12, and 16 weeks to determine the effect of prenatal stress. At necropsy, the tibia was removed and processed for histology. Differences among groups were determined by T-test or analysis of variance (ANOVA). Linear regression analysis was performed to establish the relationship between stress in utero and indicators of bone development in offspring. P values ≤ 0.05 were considered significant. Cortisol hormone levels in controls were lower than those of stressed animals. Stressed dams consumed 12.5% less food per day compared to controls. Animals in GW1 and GW2 gained less weight during pregnancy but had larger litters than did GW3 or the control group. Offspring born to GW3 were heavier compared to all other groups. GW3 offspring had a higher rate of bone formation. In conclusion, stress during pregnancy resulted in increased cortisol and reduced food intake in mothers, but faster growth and higher weight gain in offspring compared to controls. PMID:24490112

  1. 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

  2. Yucheng: health effects of prenatal exposure to polychlorinated biphenyls and dibenzofurans.

    PubMed

    Guo, Yueliang L; Lambert, George H; Hsu, Chen-Chin; Hsu, Mark M L

    2004-04-01

    Yucheng ("oil-disease") victims were Taiwanese people exposed to polychlorinated biphenyls (PCBs) and their heat-degradation products, mainly polychlorinated dibenzofurans (PCDFs), from the ingestion of contaminated rice oil in 1978-1979. Serial studies in Yucheng offspring born between 1978 and 1992 are summarized. Children of the exposed women were born with retarded growth, with dysmorphic physical findings, and, during development, with delayed cognitive development, increased otitis media, and more behavioral problems than unexposed children. Recently, examination of the reproductive system has suggested that prenatal exposure exerts late effects on semen parameters in young men after puberty. Results of the investigation in Yucheng children will provide important information about the human health effects and toxicology of PCB/PCDF exposure. Prenatal exposure to these environmental chemicals causes the fetus to be sensitive to the toxic effects of persistent organic pollutants. PMID:14963712

  3. NK cell tolerance as the final endorsement of prenatal tolerance after in utero hematopoietic cellular transplantation

    PubMed Central

    Alhajjat, Amir M.; Lee, Amanda E.; Strong, Beverly S.; Shaaban, Aimen F.

    2015-01-01

    The primary benefits of in utero hematopoietic cellular transplantation (IUHCT) arise from transplanting curative cells prior to the immunologic maturation of the fetus. However, this approach has been routinely successful only in the treatment of congenital immunodeficiency diseases that include an inherent NK cell deficiency despite the existence of normal maternal immunity in either setting. These observations raise the possibility that fetal NK cells function as an early barrier to allogeneic IUHCT. Herein, we summarize the findings of previous studies of prenatal NK cell allospecific tolerance in mice and in humans. Cumulatively, this new information reveals the complexity of the fetal immune response in the setting of rejection or tolerance and illustrates the role for fetal NK cells in the final endorsement of allospecific prenatal tolerance. PMID:25852555

  4. Variation in germ line mtDNA heteroplasmy is determined prenatally but modified during subsequent transmission

    PubMed Central

    Freyer, Christoph; Cree, Lynsey M.; Mourier, Arnaud; Stewart, James B.; Koolmeister, Camilla; Milenkovic, Dusanka; Wai, Timothy; Floros, Vasileios I.; Hagström, Erik; Chatzidaki, Emmanouella E.; Wiesner, Rudolph J.; Samuels, David C; Larsson, Nils-Göran; Chinnery, Patrick F.

    2012-01-01

    A genetic bottleneck explains the marked changes in mitochondrial DNA (mtDNA) heteroplasmy observed during the transmission of pathogenic mutations, but the precise timing remains controversial, and it is not clear whether selection plays a role. These issues are critically important for the genetic counseling of prospective mothers, and developing treatments aimed at disease prevention. By studying mice transmitting a heteroplasmic single base-pair deletion in the mitochondrial tRNAMet gene, we show that mammalian mtDNA heteroplasmy levels are principally determined prenatally within the developing female germ line. Although we saw no evidence of mtDNA selection prenatally, skewed heteroplasmy levels were observed in the offspring of the next generation, consistent with purifying selection. High percentage levels of the tRNAMet mutation were linked to a compensatory increase in overall mitochondrial RNAs, ameliorating the biochemical phenotype, and explaining why fecundity is not compromised. PMID:23042113

  5. Metabolic imprinting by prenatal, perinatal, and postnatal overnutrition: a review.

    PubMed

    Dyer, Jennifer Shine; Rosenfeld, Charles R

    2011-05-01

    Epidemiological studies have suggested that metabolic programming is one of the critical factors contributing to the etiology of obesity as well as concurrent increase in related chronic diseases (e.g., type 2 diabetes and cardiovascular disease). Metabolic programming is the phenomenon whereby a nutritional stress/stimulus applied during critical periods of early development permanently alters an organism's physiology and metabolism, the consequences of which are often observed much later in life. The idea of metabolic programming originated from the fetal origins hypothesis proposed by Barker in which he suggested that disproportionate size at birth of the newborn due to an adverse intrauterine environment correlated well with an increased risk of adult-onset ill health outcomes (type 2 diabetes, hypertension, and cardiovascular disease). The fetal origins hypothesis, proposed by Barker, suggests that adequate nutrition during fetal development is critical. Overnutrition is a form of malnutrition that has increased in the United States over the past several decades in which nutrients are oversupplied relative to the amounts required for normal growth, development, and metabolism. Evidence for the effects of maternal obesity and overnutrition on metabolic programming is reviewed during critical prenatal, perinatal, and postnatal periods. PMID:21769766

  6. 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

  7. Dose-related effects of shock waves on rabbit tendo Achillis. A sonographic and histological study.

    PubMed

    Rompe, J D; Kirkpatrick, C J; Küllmer, K; Schwitalle, M; Krischek, O

    1998-05-01

    We aimed to determine whether extracorporeal shock waves of varying intensity would damage the intact tendo Achillis and paratenon in a rabbit model. We used 42 female New Zealand white rabbits randomly divided into four groups as follows: group a received 1000 shock-wave impulses of an energy flux density of 0.08 mJ/mm2, group b 1000 impulses of 0.28 mJ/mm2, group c 1000 impulses of 0.60 mJ/mm2, and group d was a control group. Sonographic and histological evaluation showed no changes in group a, and transient swelling of the tendon with a minor inflammatory reaction in group b. Group c had formation of paratendinous fluid with a significant increase in the anteroposterior diameter of the tendon. In this group there were marked histological changes with increased eosin staining, fibrinoid necrosis, fibrosis in the paratenon and infiltration of inflammatory cells. We conclude that there are dose-dependent changes in the tendon and paratenon after extracorporeal shock-wave therapy and that energy flux densities of over 0.28 mJ/mm should not be used clinically in the treatment of tendon disorders. PMID:9619954

  8. A training, assessment and feedback package for the trainee shoulder sonographer

    PubMed Central

    Rogers, Alison; Amso, Nazar; Kennedy, Julia; Hall, Alison; Mullaney, Peter

    2015-01-01

    Diagnostic ultrasound of the shoulder is recognised as being one of the most technically challenging aspects of musculoskeletal ultrasound to master. It has a steep learning curve and makes gaining competency a time-intensive training process for both the trainee and their trainer. This article describes a training, assessment and feedback package developed within the framework of a Consortium for the Accreditation of Sonographic Education approved post-graduate ultrasound course. The package comprises: (i) a shoulder diagnostic ultrasound scan protocol with definition of findings, differential diagnosis and pro forma for recording scan findings, (ii) an assessment form for performance of shoulder diagnostic ultrasound scans with assessment criteria and (iii) a combined performance assessment and scan findings form, for each tissue being imaged. The package has been developed using medical education principles and provides a mechanism for trainees to follow an internationally recognised protocol. Supplementary information includes the differential diagnostic process used by an expert practitioner, which can otherwise be difficult to elicit. The package supports the trainee with recording their findings quickly and consistently and helps the trainee and trainer to explicitly recognise the challenges of scanning different patients or pathologies. It provides a mechanism for trainers to quantify and trainees to evidence their emerging competency. The package detailed in this article is therefore proposed for use in shoulder ultrasound training and its principles could be adapted for other musculoskeletal regions or other ultrasound disciplines. PMID:25866545

  9. 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. PMID:3088048

  10. 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

  11. Transvaginal Sonographic Evaluation of the Cervix in Asymptomatic Singleton Pregnancy and Management Options in Short Cervix

    PubMed Central

    Arisoy, Resul; Yayla, Murat

    2012-01-01

    Preterm delivery (PTD), defined as birth before 37 completed weeks of gestation, is the leading cause of perinatal morbidity and mortality. Evaluation of the cervical morphology and biometry with transvaginal ultrasonography at 16–24 weeks of gestation is a useful tool to predict the risk of preterm birth in low- and high-risk singleton pregnancies. For instance, a sonographic cervical length (CL) > 30 mm and present cervical gland area have a 96-97% negative predictive value for preterm delivery at <37 weeks. Available evidence supports the use of progesterone to women with cervical length ≤25 mm, irrespective of other risk factors. In women with prior spontaneous PTD with asymptomatic cervical shortening (CL ≤ 25 mm), prophylactic cerclage procedure must be performed and weekly to every two weeks follow-up is essential. This article reviews the evidence in support of the clinical introduction of transvaginal sonography for both the prediction and management of spontaneous preterm labour. PMID:22523687

  12. 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

  13. 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

  14. Advanced 3D-Sonographic Imaging as a Precise Technique to Evaluate Tumor Volume

    PubMed Central

    Pflanzer, R.; Hofmann, M.; Shelke, A.; Habib, A.; Derwich, W.; Schmitz-Rixen, T.; Bernd, A.; Kaufmann, R.; Bereiter-Hahn, J.

    2014-01-01

    Determination of tumor volume in subcutaneously inoculated xenograft models is a standard procedure for clinical and preclinical evaluation of tumor response to treatment. Practitioners frequently use a hands-on caliper method in conjunction with a simplified formula to assess tumor volume. Non-invasive and more precise techniques as investigation by MR or (μ)CT exist but come with various adverse effects in terms of radiation, complex setup or elevated cost of investigations. Therefore, we propose an advanced three-dimensional sonographic imaging technique to determine small tumor volumes in xenografts with high precision and minimized observer variability. We present a study on xenograft carcinoma tumors from which volumes and shapes were calculated with the standard caliper method as well as with a clinically available three-dimensional ultrasound scanner and subsequent processing software. Statistical analysis reveals the suitability of this non-invasive approach for the purpose of a quick and precise calculation of tumor volume in small rodents. PMID:25500076

  15. 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

  16. 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

  17. 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.

  18. A novel mutation identified in PKHD1 by targeted exome sequencing: guiding prenatal diagnosis for an ARPKD family.

    PubMed

    Xu, Yan; Xiao, Bing; Jiang, Wen-Ting; Wang, Lei; Gen, Hong-Quan; Chen, Ying-Wei; Sun, Yu; Ji, Xing

    2014-11-01

    Autosomal recessive polycystic kidney disease (ARPKD) is a rare hereditary renal cystic disease involving multiple organs, mainly the kidney and liver. Parents who had an affected child with ARPKD are in strong demand for an early and reliable prenatal diagnosis to guide the future pregnancies. Here we provide an example of prenatal diagnosis of an ARPKD family where traditional antenatal ultrasound examinations failed to produce conclusive results till 26th week of gestation. Compound heterozygous mutations c.274C>T (p.Arg92Trp) and c.9059T>C (p.Leu3020Pro) were identified using targeted exome sequencing in the patient and confirmed by Sanger sequencing. Further, the mother and father were revealed to be carriers of heterozygous c.274C>T and c.9059T>C mutations, respectively. Molecular prenatal diagnosis was performed for the current pregnancy by direct sequencing plus linkage analysis. Two mutations identified in the patient were both found in the fetus. In conclusion, compound heterozygous PKHD1 mutations were elucidated to be the molecular basis of the patient with ARPKD. The newly identified c.9059T>C mutation in the patient expands mutation spectrum in PKHD1 gene. For those ultrasound failed to provide clear diagnosis, we propose the new prenatal diagnosis procedure: first, screening underlying mutations in PKHD1 gene in the proband by targeted exome sequencing; then detecting causative mutations by direct sequencing in the fetal DNA and confirming results by linkage analysis. PMID:25153916

  19. 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. PMID:19464935

  20. 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…

  1. 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…

  2. 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,…

  3. 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…

  4. Prenatal Smoking Exposure, Low Birth Weight, and Disruptive Behavior Disorders

    ERIC Educational Resources Information Center

    Nigg, Joel T.; Breslau, Naomi

    2007-01-01

    Background: Prenatal problems are among theorized etiologies for child disruptive behavior problems. A key question concerns whether etiological contributors are shared across the broad range of disruptive psychopathology or are partially or largely distinct. Method: We examined prenatal smoking exposure and low birth weight as risk factors for…

  5. Long-term behavioral consequences of prenatal MDMA exposure.

    PubMed

    Thompson, Valerie B; Heiman, Justin; Chambers, James B; Benoit, Stephen C; Buesing, William R; Norman, Mantana K; Norman, Andrew B; Lipton, Jack W

    2009-03-23

    The current study sought to determine whether prenatal 3,4-methylenedioxy-N-methamphetamine (MDMA) exposure from E14-20 in the rat resulted in behavioral sequelae in adult offspring. Prenatal MDMA exposure results in increased dopaminergic fiber density in the prefrontal cortex, striatum and nucleus accumbens of young rats. Since these areas are critical in response to novelty, reward, attention and locomotor activity, we hypothesized that prenatal MDMA exposure would produce significant changes in the performance of tasks that examine such behaviors in adult rats. Adult rats prenatally exposed to MDMA exhibited greater activity and spent more time in the center during a novel open field test as compared to controls. This increased activity was not reflected in normal home cage activity. Prenatal exposure to MDMA did not affect feeding or food reward. It did not alter cocaine self-administration behaviors, nor did it have an effect on the locomotor response to amphetamine challenge. Finally, while prenatal MDMA did not affect performance in the radial arm maze or the Morris water maze (MWM), these animals demonstrated altered performance in a cued MWM paradigm. Prenatal MDMA exposure resulted in perseverative attendance to a hanging cue when the platform in the MWM was removed as compared to controls. Together, these data demonstrate that prenatal exposure to MDMA results in a behavioral phenotype in adult rats characterized by reduced anxiety, a heightened response to novelty, and "hyperattentiveness" to environmental cues during spatial learning. PMID:19162054

  6. Prenatal Alcohol Exposure and Infant Information Processing Ability.

    ERIC Educational Resources Information Center

    Jacobson, Sandra W.; And Others

    1993-01-01

    A total of 403 black, inner-city infants born to women recruited prenatally on basis of their alcohol consumption during pregnancy were assessed on a battery of tests focusing on information processing and complexity of play. Increased prenatal alcohol exposure was associated with longer fixation duration, a result indicative of less efficient…

  7. 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…

  8. Prenatal Imaging of the Gastrointestinal Tract with Postnatal Imaging Correlation.

    PubMed

    Blask, Anna Nussbaum; Fagen, Kimberly

    2016-03-01

    Prenatal detection of a wide variety of anomalies and masses of the gastrointestinal tract is now possible. Prenatal imaging with ultrasonography and in selected cases magnetic resonance imaging provides invaluable information to the referring obstetrician, the maternal fetal medicine specialist, the neonatologist and pediatrician who will care for the child after birth, the surgeons and pediatric specialists who will repair or manage a prenatally detected anomaly, and of course to the parents, allowing them to prepare psychologically and financially for the specific interventions that may be needed for their child. Additional screening for associated anomalies can take place, route of delivery can be decided, and arrangements for delivery in an appropriate setting can be made. Prenatal detection also allows for consideration for pregnancy termination. This article will give a broad overview of anomalies of the gastrointestinal tract that can be detected prenatally and their imaging appearance postnatally. PMID:26086457

  9. 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

  10. 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

  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. PMID:26513032

  12. Causes and outcome of prenatally diagnosed hydronephrosis.

    PubMed

    Ahmadzadeh, Ali; Tahmasebi, Morteza; Gharibvand, Mohammad Momen

    2009-03-01

    Hydronephrosis is the most common abnormal finding in the urinary tract on prenatal screening with ultrasonography (U/S). Hydronephrosis may be obstructive or non-obstructive; obstructive lesions are more harmful to the developing kidneys. The aim of the study was to evaluate the causes of renal pelvic dilatation and the outcome of postnatal treatment in infants with hydronephrosis diagnosed prenatally with U/S. We prospectively studied 67 (60 males) newborns with hydronephrosis diagnosed prenatally and confirmed postnatally with U/S from Sept. 2005 to Oct. 2007. The patients were allocated to three groups based on the mea-surement of the anteroposterior renal pelvic diameter (APRPD) in transverse plane: mild (6-9.9 mm), moderate (10-14.9 mm) and severe (> or =15 mm) hydronephrosis. Voiding cystourethrography (VCUG) was obtained in all of the patients to rule out vesicoureteral reflux (VUR). In cases with negative VUR, Diethylenetriamine-pentaacetic acid (DTPA) scan with diuretic renography was performed to detect ureteropelvic joint obstruction (UPJO). Twenty two cases (32.8%) had mild, 20 (29.9%) had moderate, and 25 (37.3%) had severe hydronephrosis. The causes of hydroneph-rosis were VUR (40.2%), UPJO (32.8%), posterior urethral valves (PUVs) (13.4 %), and transient hydronephrosis (13.4 %). The lesion was obstructive in 37 (55.2%) infants. Totally, 33 (49.2%) patients with hydronephrosis (9 mild, 9 moderate, and 15 severe) subsequently developed com-plications such as UTI and renal insufficiency, or required surgery. Associated abnormalities were observed in 15 (22.4%) patients. We conclude that every newborn with any degree of hydro-nephrosis should be assessed postnatally for specific diagnosis and treatment. PMID:19237812

  13. Culturally sensitive prenatal care for Southeast Asians.

    PubMed

    Mattson, S; Lew, L

    1992-01-01

    The outreach program for Southeast Asian immigrants, chiefly Cambodians who arrived after 1980, begun by St. Mary Medical CEnter of Long Beach California, called the Southeast Asian Health Project (SEAHP) was evaluated by structured interviews of 199 women. The obstacles to full participation by these Asian immigrants in health care are described at length. They range from illiteracy and abuse in refugee camps to the immense cultural barrier involving philosophy of health to language barriers. The SEAHP Outreach services began with door-to-door canvassing, ads in refugee papers, and meetings in temples. Special educational resource materials were printed covering prenatal care, nutrition, child development, and feeding. Oral classes were held in CAmbodian and Lao with Vietnamese translators, as well as babysitters, transportation, and snacks. Class topics were nutrition, parenting skills, labor and delivery, child development, hygiene, and breast feeding. Training was also given to professional staff. 600 clients in prenatal clinics since 1987, 119 were interviewed by 4 workers fluent in Cambodian and Lao. The women were typical of refugees, only 1/2 were literate in native languages. 49% had delivered babies at home in Asia; 39% had delivered in refugee camp clinics. Women cited several different behaviors as a result of SEAHP classes: intake of milk products, use of food substitutes, food preparation, attendance at regular medical care, child care, and bathing. They said that they felt more comfortable at the clinic, and would recommend that friends go to the clinic for prenatal care. The concept of culture broker, and the role of nurses as culture brokers are discussed. PMID:1564588

  14. 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

  15. Prenatal diagnosis of dicephalic parapagus conjoined twins.

    PubMed

    Camuzcuoglu, Hakan; Toy, Harun; Vural, Mehmet; Cece, Hasan; Aydin, Halef

    2010-03-01

    Dicephalic parapagus is a rare anomaly of monochorionic twinning. We present prenatal diagnosis of this anomaly with ultrasonography and magnetic resonance imaging. She was at the 19th week of gestation. Even if earlier diagnosis is possible, this was her first examination unfortunately. Baby had two head and a common trunk. This is one of the rarest twinning. Termination of pregnancy is performed and baby is delivered by cesarean section. Imaging findings of the case are illustrated and discussed with the autopsy findings. PMID:19714344

  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 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

  18. 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…

  19. Prenatally diagnosed 17q12 microdeletion syndrome with a novel association with congenital diaphragmatic hernia.

    PubMed

    Hendrix, Nancy W; Clemens, Michele; Canavan, Timothy P; Surti, Urvashi; Rajkovic, Aleksandar

    2012-01-01

    We describe the first reported case of a prenatally diagnosed and recently described 17q12 microdeletion syndrome. The fetus was noted to have a congenital diaphragmatic hernia (CDH), echogenic kidneys and cystic left lung on prenatal ultrasound. The patient underwent amniocentesis which resulted in a normal fluorescence in-situ hybridization and karyotype. An oligonucleotide microarray was then performed which demonstrated a 1.4-Mb deletion within the 17q12 region. The deletion caused haploinsufficiency for 17 genes, including AATF, ACACA, DDX52, DUSP14, GGNBP2, HNF-1B, LHX1, PIGW, SYNRG, TADA2A, and ZNHIT3. The deleted region on 17q12 is similar in size and gene content to previously reported 17q12 microdeletion syndromes, which have a minimal critical region of 1.52 Mb. The newly described 17q12 microdeletion syndrome has been associated with MODY5 (maturity-onset of diabetes of the young type 5), cystic renal disease, pancreatic atrophy, liver abnormalities, cognitive impairment and structural brain abnormalities. CDH has not been previously described with the 17q12 microdeletion syndrome. We hypothesize that CDH is part of the spectrum of this syndrome and likely not detected postnatally due to high prenatal mortality. PMID:22178801

  20. 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

  1. Effect of exercise on dopamine neuron survival in prenatally stressed rats.

    PubMed

    Mabandla, Musa V; Kellaway, Lauriston A; Daniels, William M U; Russell, Vivienne A

    2009-12-01

    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 microg/4 microl 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

  2. 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

  3. 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. PMID:27349968

  4. 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

  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. Quadriceps tendinosis and patellar tendinosis in professional beach volleyball players: sonographic findings in correlation with clinical symptoms.

    PubMed

    Pfirrmann, Christian W A; Jost, Bernhard; Pirkl, Christof; Aitzetmüller, Gernot; Lajtai, Georg

    2008-08-01

    The purpose was to assess quadriceps and patellar tendinosis in professional beach volleyball players and to correlate ultrasound findings with clinical symptoms. During a grand-slam beach volleyball tournaments all 202 athletes (100 men and 102 women) were invited to participate at this study. Sixty-one athletes (38 male, mean age 29.6, 23 female, mean age 27.1) were included. The dominant leg was right in 51 (84%) and left in ten athletes (16%). Lysholm knee score and pain during the game was assessed using a visual analogue scale. Sonography of the quadriceps tendon and the patellar tendon was performed by a blinded sonographer. Sonographic findings were compared between both legs and correlated to clinical findings using a regression analysis. Quadriceps tendinosis was diagnosed in 13 (21%, dominant leg)/21 (34%, non-dominant leg), patellar tendinosis in 13(21%)/18(30%). Only sonographic findings at the quadriceps tendon were significantly associated with pain: thickness of the quadriceps tendon (mean diameter 6.9 mm/7.1 mm, significant for both legs P = 0.011/P = 0.030), abnormal echo texture (11/16; P = 0.001/P = 0.228), areas with positive power Doppler signals (mean number 0.3/0.4; P = 0.049/0.346), calcifications (mean number: 0.9/1.1; P = 0.021/0.864). A relationship between findings at patellar tendon was not found. Quadriceps tendinosis is as common as patellar tendinosis in professional beach volleyball players. Thickening and structure alteration of the quadriceps tendon is associated with anterior knee pain during beach volleyball. PMID:18386014

  7. [Sonographic diagnosis of pregnancy and determination of fetal number and gestational age in ewes].

    PubMed

    Schmid, D; Schiess, A; Tustain, G; Fleisch, A; Bollwein, H; Janett, F

    2016-02-01

    The aim of the present study was to evaluate accuracy of transabdominal ultrasonography for pregnancy diagnosis, determination of fetal number and estimation of gestational age in ewes. A total of 1068 ewes from 8 different flocks (Swiss White Alpine n = 379, Swiss Black-Brown Mountain n = 189, Oxford-type n = 164, Ostfriesian n = 154, Texel n = 104, Lacaune x Osfriesian crossbred n = 78) was investigated using an Ovi-Scan™ ultrasound scanner with a 3.5 MHz 170° mechanical axial probe (BCF Technology Ltd., BelIshill, Great Britain). Scanning was performed transabdominally at the right inguinal region in ewes restrained in standing position. Sonographic findings were compared with lambing data recorded by the farmers. Included in the analysis were all ewes that, at the time of examination, were not pregnant and those that were pregnant between 26 and 110 days with a known lambing date and number of lambs born (n = 882). The sensitivity of pregnancy diagnosis was 97.8% and the specificity 97.6% (overall accuracy 97.8%, n = 853). Sensitivity and specificity for discrimination between single and multiple pregnancies was 95.8% and 90.5% (overall accuracy 93.9%, n = 752), respectively, when multiples were defined as positive. Discrimination between twins and triplets reached a sensitivity of 86.0% and a specificity of 99.5% (overall accuracy 98.0%, n = 458) when triplets were defined as positive. Considering a gestation period of 150 days, the mean deviation of the estimated to the effective day of gestation at examination was 5.6 ± 5.0 days (n = 781). The correlation between estimated and true gestational age was very high (r=0.936, P<0.0001). In conclusion, a highly accurate and efficient diagnosis of pregnancy with reliable estimation of fetal number and age is possible using an Ovi-Scan™ ultrasound scanner by an experienced examiner. PMID:27145684

  8. Characteristic power Doppler sonographic images of tumorous and non-tumorous buccal space lesions

    PubMed Central

    Ogura, I; Kaneda, T; Sasaki, Y; Sekiya, K; Tokunaga, S

    2013-01-01

    Objectives: The aim of this study was to evaluate the characteristic power Doppler sonographic images of buccal space tumorous and non-tumorous lesions. Methods: 48 patients with buccal space lesions were evaluated with greyscale sonography followed by power Doppler sonography with a 12 MHz linear transducer. On greyscale sonography, buccal space lesions were assessed for the boundary (clear or unclear), echogenicity (hypoechoic or isoechoic) and internal architecture (homogeneous or heterogeneous). Power Doppler sonography was performed to evaluate the vascular signals within the buccal space lesions. Results: 48 lesions were found in the 48 patients; of these 48 lesions, 28 were tumourous and 20 were non-tumourous. In the 28 tumours, 15 cases showed clear boundaries, 15 cases were hypoechoic relative to adjacent tissues and 22 cases presented with a heterogeneous appearance on greyscale sonography. The internal vascularity of 19 tumours was shown using power Doppler sonography. In the 20 non-tumorous lesions, 11 cases showed clear boundaries, 17 cases were hypoechoic relative to adjacent tissues and 13 cases presented with a homogeneous appearance on greyscale sonography. 18 non-tumorous lesions showed no internal vascularity using power Doppler sonography. Logistic multivariate regression analysis between the tumour group and the non-tumorous lesions group demonstrated that the internal architecture (odds ratio = 8.270, p = 0.029) and vascular signals (odds ratio = 17.533, p = 0.003) were significant variables. Conclusions: Power Doppler sonography is a useful technique for the differential diagnosis of tumorous and non-tumorous buccal space lesions. PMID:23520393

  9. 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

  10. 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

  11. 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

  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. PMID:22605683

  13. Neuroimaging of Children Following Prenatal Drug Exposure

    PubMed Central

    Derauf, Chris; Kekatpure, Minal; Neyzi, Nurunisa; Lester, Barry; Kosofsky, Barry

    2009-01-01

    Recent advances in MR-based brain imaging methods have provided unprecedented capabilities to visualize the brain. Application of these methods has allowed identification of brain structures and patterns of functional activation altered in offspring of mothers who used licit (e.g., alcohol and tobacco) and illicit (e.g., cocaine, methamphetamine, and marijuana) drugs during pregnancy. Here we review that literature, which though somewhat limited by the complexities of separating the specific effects of each drug from other confounding variables, points to sets of interconnected brain structures as being altered following prenatal exposure to drugs of abuse. In particular, dopamine-rich cortical (e.g., frontal cortex) and subcortical (e.g., basal ganglia) fetal brain structures show evidence of vulnerability to intrauterine drug exposure suggesting that during brain development drugs of abuse share a specific profile of developmental neurotoxicity. Such brain malformations may shed light on mechanisms underlying prenatal drug-induced brain injury, may serve as bio-markers of significant intrauterine drug exposure, and may additionally be predictors of subsequent neuro-developmental compromise. Wider clinical use of these research-based non-invasive methods will allow for improved diagnosis and allocation of therapeutic resources for affected infants, children, and young adults. PMID:19560049

  14. Genomic futures of prenatal screening: ethical reflection.

    PubMed

    Dondorp, W J; Page-Christiaens, G C M L; de Wert, G M W R

    2016-05-01

    The practice of prenatal screening is undergoing important changes as a result of the introduction of genomic testing technologies at different stages of the screening trajectory. It is expected that eventually it will become possible to routinely obtain a comprehensive 'genome scan' of all fetuses. Although this will still take several years, there are clear continuities between present developments and this future scenario. As this review shows, behind the still limited scope of screening for common aneuploidies, a rapid widening of the range of conditions tested for is already taking shape at the invasive testing stage. But the continuities are not just technical; they are also ethical. If screening for Down's syndrome is a matter of providing autonomous reproductive choice, then why would providing the choice to have a full fetal genome scan be something entirely different? There is a clear need for a sustainable normative framework that will have to answer three challenges: the indeterminateness of the autonomy paradigm, the need to acknowledge the future child as an interested stakeholder, and the prospect of broad-scope genomic prenatal screening with a double purpose: autonomy and prevention. PMID:26178686

  15. 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.

  16. Noninvasive Prenatal Diagnosis of Congenital Adrenal Hyperplasia.

    PubMed

    Khattab, Ahmed; Yuen, Tony; Sun, Li; Yau, Mabel; Barhan, Ariella; Zaidi, Mone; Lo, Y M Dennis; New, Maria I

    2016-01-01

    A major hallmark of classical congenital adrenal hyperplasia (CAH) is genital ambiguity noted at birth in affected females, which leads to psychological and psychosexual issues in adult life. Attempts to correct genital ambiguity through surgical intervention have been partially successful. Fetal hyperandrogenemia and genital ambiguity have been shown to be preventable by prenatal administration of low-dose dexamethasone initiated before the 9th week of gestation. In 7 of 8 at-risk pregnancies, the unaffected fetus is unnecessarily exposed to dexamethasone for weeks until the diagnosis of classical CAH is ruled out by invasive procedures. This therapeutic dilemma calls for early prenatal diagnosis so that dexamethasone treatment can be directed to affected female fetuses only. We describe the utilization of cell-free fetal DNA in mothers carrying at-risk fetuses as early as 6 gestational weeks by targeted massively parallel sequencing of the genomic region including and flanking the CYP21A2 gene. Our highly personalized and innovative approach should permit the diagnosis of CAH before genital development begins, therefore restricting the purposeful administration of dexamethasone to mothers carrying affected females. PMID:26683339

  17. Intraoperative contrast-enhanced sonographic portography combined with indigo carmine dye injection for anatomic liver resection in hepatocellular carcinoma: a new technique.

    PubMed

    Park, Yang Shin; Lee, Chang Hee; Park, Pyoung-Jae; Kim, Kyeong Ah; Park, Cheol Min

    2014-07-01

    We present a method of intraoperative contrast-enhanced sonographic portography combined with indigo carmine dye injection for anatomic liver resection in hepatocellular carcinoma. During surgery, before dye infusion into the feeding portal vein, the targeted portal vein branch was directly punctured, and a microbubble contrast agent was administered under sonographic guidance. Simultaneous enhancement of the resected hepatic parenchyma with a microbubble contrast agent and blue dye improved estimation of the segmental border in the cutting plane and the tumor resection margin during liver surgery. PMID:24958416

  18. A simple sonographic scoring system combined with routine serology is useful in differentiating parasitic from non-parasitic cysts of the liver☆

    PubMed Central

    Grisolia, A.; Troìa, G.; Mariani, G.; Brunetti, E.; Filice, C.

    2009-01-01

    In the absence of a detached endocyst, unilocular echinococcal cysts of the liver may be difficult to distinguish from non-parasitic cysts. In an attempt to identify sonographic features that could help distinguish these two types of cysts, we retrospectively analyzed 64 cases of fluid-filled hepatic cysts whose parasitic nature was ultimately excluded. This experience allowed us to develop a simple scoring system that quantifies the likelihood that hepatic cysts are non-parasitic. Sonographic criteria, together with the results of standard serological testing for cystic echinococcosis, proved to be sufficiently specific to allow definitive diagnosis without resorting to further tests. PMID:23396670

  19. A simple sonographic scoring system combined with routine serology is useful in differentiating parasitic from non-parasitic cysts of the liver().

    PubMed

    Grisolia, A; Troìa, G; Mariani, G; Brunetti, E; Filice, C

    2009-06-01

    In the absence of a detached endocyst, unilocular echinococcal cysts of the liver may be difficult to distinguish from non-parasitic cysts. In an attempt to identify sonographic features that could help distinguish these two types of cysts, we retrospectively analyzed 64 cases of fluid-filled hepatic cysts whose parasitic nature was ultimately excluded. This experience allowed us to develop a simple scoring system that quantifies the likelihood that hepatic cysts are non-parasitic. Sonographic criteria, together with the results of standard serological testing for cystic echinococcosis, proved to be sufficiently specific to allow definitive diagnosis without resorting to further tests. PMID:23396670

  20. Effects of prenatal care on maternal postpartum behaviors

    PubMed Central

    Reichman, Nancy E.; Corman, Hope; Schwartz-Soicher, Ofira

    2010-01-01

    Most research on the effectiveness of prenatal care has focused on birth outcomes and has found small or no effects. It is possible, however, that prenatal care is “too little too late” to improve pregnancy outcomes in the aggregate, but that it increases the use of pediatric health care or improves maternal health-related parenting practices and, ultimately, child health. We use data from the Fragile Families and Child Wellbeing birth cohort study that have been augmented with hospital medical record data to estimate effects of prenatal care timing on pediatric health care utilization and health-related parenting behaviors during the first year of the child’s life. We focus on maternal postpartum smoking, preventive health care visits for the child, and breastfeeding. We use a multi-pronged approach to address the potential endogeneity of the timing of prenatal care. We find that first trimester prenatal care appears to decrease maternal postpartum smoking by about 5 percentage points and increase the likelihood of 4 or more well-baby visits by about 1 percentage point, and that it may also have a positive effect on breastfeeding. These findings suggest that there are benefits to standard prenatal care that are generally not considered in evaluations of prenatal care programs and interventions. PMID:20582158

  1. 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

  2. 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

  3. Making the most of uncertainty: Treasuring exceptions in prenatal diagnosis.

    PubMed

    Hogan, Andrew J

    2016-06-01

    Throughout the 20th century, human genetics research was driven by the identification of new variants. As pioneering geneticist William Bateson put it, novel variants were "exceptions" to "treasure". With the rise of human chromosomal analysis in the postwar period, the identification of genetic variants became increasingly significant to clinical and prenatal diagnosis. Human geneticists had long sought a broader sampling of human genetic variation, from a largely "normal" population. The expansion of prenatal diagnosis in the late 20th century offered a new resource for identifying novel genetic variants. In the prenatal diagnostic setting however, many of the exceptions to be treasured were of uncertain clinical significance, which raised anxiety among parents. In the early 1990s, providers reported that specific uncertain results from chorionic villus sampling (CVS) facilitated prenatal diagnoses that were not previously possible. Based on this, some prenatal diagnostic providers began to embrace uncertainty, when properly managed to reduce anxiety, rather than prevent it. The potential to produce uncertainty in prenatal diagnosis grew with whole genome microarray in the 2000s. Rather than outcomes to avoid, or accept as inevitable, providers presented uncertain results as starting points for research to improve the scope prenatal diagnosis, and bring future certainty. PMID:27010571

  4. 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

  5. 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. PMID:22581420

  6. 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

  7. 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

  8. Recent advances in prenatal screening and diagnosis of genetic disorders.

    PubMed

    Bozzette, Maryann

    2002-11-01

    In any pregnancy, there is an approximate 3% to 5% chance that a fetal complication will occur. The most familiar prenatal diagnostics cannot be performed until the fetus is well into gestation, and most involve invasive procedures along with their inherent risks. In light of these facts, many noninvasive prenatal screening and diagnostic tests have been developed, the newest using recombinant deoxyribonucleic acid (DNA) technology in the examination of fetal cells. Through these procedures, genetic coding errors and chromosomal disruptions may be detected. This article discusses the currently available prenatal and screening diagnostic tests for genetic disorders with a focus on the latest technology. PMID:12473913

  9. [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

  10. Prenatal diagnsis of intracardiac hamartoma and Turner syndrome.

    PubMed

    Gedikbasi, Ali; Oztarhan, Kazim; Yararbas, Kanay; Arslan, Oguz; Yildirim, Dogukan; Oztek, Ibrahim; Ceylan, Yavuz

    2010-01-01

    Turner syndrome is associated with a higher frequency of heart defects detected prenatally when compared to postnatal reports. The most common heart defects detected prenatally are hypoplastic left heart syndrome and coarctation of the aorta. We report a case involving a fetus at 16 gestational weeks with a septated cystic hygroma located on the neck and head, an interventricular septal mass, a hypoplastic left ventricle due to aortic stenosis, mitral stenosis, and a hypoplastic aortic arch with a karyotype of mos 45, X, [47 cells]/47, XXX [3 cells]. The autopsy findings confirmed our prenatal diagnosis with a final diagnosis of Turner syndrome and congenital cardiac vascular malformation. PMID:20704479

  11. Yoga and massage therapy reduce prenatal depression and prematurity.

    PubMed

    Field, Tiffany; Diego, Miguel; Hernandez-Reif, Maria; Medina, Lissette; Delgado, Jeannette; Hernandez, Andrea

    2012-04-01

    Eighty-four prenatally depressed women were randomly assigned to yoga, massage therapy or standard prenatal care control groups to determine the relative effects of yoga and massage therapy on prenatal depression and neonatal outcomes. Following 12 weeks of twice weekly yoga or massage therapy sessions (20 min each) both therapy groups versus the control group had a greater decrease on depression, anxiety and back and leg pain scales and a greater increase on a relationship scale. In addition, the yoga and massage therapy groups did not differ on neonatal outcomes including gestational age and birthweight, and those groups, in turn, had greater gestational age and birthweight than the control group. PMID:22464118

  12. Effects and consequences of prenatal irradiation.

    PubMed

    Vos, O

    1989-06-01

    After a brief introduction about the historic development of risk estimates and maximum permissible doses of ionizing radiation, the risks of prenatal irradiation are discussed. Experimental data mainly obtained with mice indicate that the most important risk exists during the period of organogenesis and concerns the induction of malformations. Although in man this period lies between about 10 and 80 days after fertilization for most organs, the main development of the brain occurs later, namely between the 8th and 15th week after conception. Data from Japanese victims of the atomic bomb explosions above Hiroshima and Nagasaki indicate that during development the brain is the most sensitive organ to irradiation and maximal sensitivity is found between the 8th and 15th week after fertilization. A dose of one Gray received during this period induces a severe mental retardation in about 45% of the newborns. The dose response relationship is not significantly different from a linear one without a threshold dose. Studies of intelligence and school performance have shown that 1 Gray received during the 8th-15th week causes a shift of the average intelligence of about 30 points. Irradiation before the 8th week and after the 25th week had no effect on intelligence or mental retardation. During the 16th and 25th week sensitivity was about one fourth of that during the 8th-15th week. Although the irradiation of the embryo and fetus should be avoided as much as possible, the new data have led to an abandonment of the so-called 10-day rule. Generally an accidental irradiation of the embryo or fetus of less than 5 cGy is not considered as a medical indication for abortion. Retrospective studies showed that mothers from children who died from leukemia or other childhood tumors, had been subjected to a diagnostic irradiation of the pelvis or lower abdomen more frequently than mothers from children that did not develop a tumor. It has been estimated that prenatal sensitivity for

  13. 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 ...

  14. 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

  15. 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

  16. Prenatal diagnosis of congenital mesoblastic nephroma.

    PubMed

    Do, A Young; Kim, Jung-Sun; Choi, Suk-Joo; Oh, Soo-Young; Roh, Cheong-Rae; Kim, Jong-Hwa

    2015-09-01

    Congenital mesoblastic nephroma is a rare renal tumor that is diagnosed during pregnancy and is associated with polyhydramnios, prematurity, and neonatal hypertension. Differential diagnoses include Wilms tumor, adrenal neuroblastoma, and other abdominal tumors. We report a case of congenital mesoblastic nephroma detected by prenatal ultrasonography as a large fetal renal mass with polyhydramnios at 32 weeks of gestation. Ultrasonography showed a 6×6-cm complex, solid, hyperechoic, round mass in the right kidney. At 35 weeks of gestation, the patient was admitted with preterm premature rupture of membranes and the baby was delivered vaginally. Postnatal ultrasonography and computed tomography showed a heterogeneous solid mass on the right kidney. At the end of the first week of life, a right nephrectomy was performed and subsequent pathological examination confirmed a cellular variant of congenital mesoblastic nephroma with a high mitotic count. Postoperative adjuvant chemotherapy was administered. The newborn was discharged in good condition. PMID:26430667

  17. 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

  18. 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.

  19. Caring for opioid dependent pregnant women: prenatal and postpartum care considerations

    PubMed Central

    Krans, Elizabeth E.; Cochran, Gerald; Bogen, Debra L.

    2015-01-01

    Pregnancy is an opportune time to identify opioid dependence, facilitate conversion to opioid maintenance treatment, and coordinate care with specialists in addiction medicine, behavioral health and social services. Comprehensive prenatal care for opioid dependent women involves the evaluation and management of co-occurring psychiatric disorders, polysubstance use, infectious diseases, social stressors and counseling regarding the importance of breastfeeding, contraception and neonatal abstinence syndrome. While the complex psychiatric, social and environmental factors faced by this population pose significant challenges to obstetric care providers, the development of strong patient-provider relationships can facilitate the ability to deliver efficient and effective health care during pregnancy. PMID:25775440

  20. Biallelic IARS Mutations Cause Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy.

    PubMed

    Kopajtich, Robert; Murayama, Kei; Janecke, Andreas R; Haack, Tobias B; Breuer, Maximilian; Knisely, A S; Harting, Inga; Ohashi, Toya; Okazaki, Yasushi; Watanabe, Daisaku; Tokuzawa, Yoshimi; Kotzaeridou, Urania; Kölker, Stefan; Sauer, Sven; Carl, Matthias; Straub, Simon; Entenmann, Andreas; Gizewski, Elke; Feichtinger, René G; Mayr, Johannes A; Lackner, Karoline; Strom, Tim M; Meitinger, Thomas; Müller, Thomas; Ohtake, Akira; Hoffmann, Georg F; Prokisch, Holger; Staufner, Christian

    2016-08-01

    tRNA synthetase deficiencies are a growing group of genetic diseases associated with tissue-specific, mostly neurological, phenotypes. In cattle, cytosolic isoleucyl-tRNA synthetase (IARS) missense mutations cause hereditary weak calf syndrome. Exome sequencing in three unrelated individuals with severe prenatal-onset growth retardation, intellectual disability, and muscular hypotonia revealed biallelic mutations in IARS. Studies in yeast confirmed the pathogenicity of identified mutations. Two of the individuals had infantile hepatopathy with fibrosis and steatosis, leading in one to liver failure in the course of infections. Zinc deficiency was present in all affected individuals and supplementation with zinc showed a beneficial effect on growth in one. PMID:27426735

  1. 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

  2. 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

  3. Early Detection of Drug-Induced Renal Hemodynamic Dysfunction Using Sonographic Technology in Rats.

    PubMed

    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

  4. 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

  5. Transvaginal three-dimensional sonographic assessment of the embryonic brain: a pilot study

    PubMed Central

    BOITOR-BORZA, DAN; KOVACS, TUNDE; STAMATIAN, FLORIN

    2015-01-01

    Aims A very good knowledge of human embryology is mandatory not only for the correct sonographic assessment of the developing brain, but also for better understanding the origins of congenital anomalies involving the central nervous system. 3D transvaginal sonography may be an effective technique for imaging the developing brain. The aims of this explorative study are to demonstrate the feasibility of imaging the embryonic brain between 7 and 10 weeks of gestation for clinical studies by using a 3D high-frequency vaginal ultrasound transducer and to provide a reference for the morphology of the brain in the embryonic period. Materials and methods Four embryos of 9 mm, 17 mm, 23 mm and 31 mm crown-rump length respectively were assessed in vivo by transvaginal sonography. We gave a special attention to the embryonic brain. All patients were examined with a Voluson E10, BT 15 ultrasound scanner (GE Healthcare, Zipf, Austria), using a high-frequency 6–12 MHz/ 256-element 3D/4D transvaginal transducer. Three-dimensional sonography was performed routinely as the patients were scanned. The multiplanar display was used after selecting the best volume. The Omni view® software was used for digitally slicing the selected volumes. Results We describe the morphological details of the developing brains of four embryos ranging from 7 to 10 gestational weeks. In the human embryo 9 mm CRL the hypoechogenic cavities of the three primary vesicles (prosencephalon, mesencephalon, rhombencephalon) could be observed on a sagittal section. In the human embryo 17 mm CRL the prosencephalon was divided into the median diencephalon and two telencephalic vesicles, which were partially separated by the falx cerebri. In the human embryo 23 mm CRL the cerebral hemispheres developed and they were completely separated by the falx cerebri. The choroid plexus was evident inside the lateral ventricles and the fourth ventricle. In the human embryo 31 mm CRL the ventral thalamus was evident, and the

  6. Sonographic appearances of Morton's neuroma: differences from other interdigital soft tissue masses.

    PubMed

    Park, Hee-Jin; Kim, Sam Soo; Rho, Myong-Ho; Hong, Hyun-Pyo; Lee, So-Yeon

    2011-08-01

    's neuromas and more studies are needed to confirm its value as a sonographic sign. PMID:21683509

  7. Pilot Study to Determine Accuracy of Posterior Approach Ultrasound for Shoulder Dislocation by Novice Sonographers

    PubMed Central

    Lahham, Shadi; Becker, Brent; Chiem, Alan; Joseph, Linda M.; Anderson, Craig L.; Wilson, Sean P.; Subeh, Mohammad; Trinh, Alex; Viquez, Eric; Fox, John C.

    2016-01-01

    Introduction The goal of this study was to investigate the efficacy of diagnosing shoulder dislocation using a single-view, posterior approach point-of-care ultrasound (POCUS) performed by undergraduate research students, and to establish the range of measured distance that discriminates dislocated shoulder from normal. Methods We enrolled a prospective, convenience sample of adult patients presenting to the emergency department with acute shoulder pain following injury. Patients underwent ultrasonographic evaluation of possible shoulder dislocation comprising a single transverse view of the posterior shoulder and assessment of the relative positioning of the glenoid fossa and the humeral head. The sonographic measurement of the distance between these two anatomic structures was termed the Glenohumeral Separation Distance (GhSD). A positive GhSD represented a posterior position of the glenoid rim relative to the humeral head and a negative GhSD value represented an anterior position of the glenoid rim relative to the humeral head. We compared ultrasound (US) findings to conventional radiography to determine the optimum GhSD cutoff for the diagnosis of shoulder dislocation. Sensitivity, specificity, positive predictive value, and negative predictive value of the derived US method were calculated. Results A total of 84 patients were enrolled and 19 (22.6%) demonstrated shoulder dislocation on conventional radiography, all of which were anterior. All confirmed dislocations had a negative measurement of the GhSD, while all patients with normal anatomic position had GhSD>0. This value represents an optimum GhSD cutoff of 0 for the diagnosis of (anterior) shoulder dislocation. This method demonstrated a sensitivity of 100% (95% CI [82.4–100]), specificity of 100% (95% CI [94.5–100]), positive predictive value of 100% (95% CI [82.4–100]), and negative predictive value of 100% (95% CI [94.5–100]). Conclusion Our study suggests that a single, posterior

  8. 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.

  9. Prenatal drug exposure: infant and toddler outcomes.

    PubMed

    Bandstra, Emmalee S; Morrow, Connie E; Mansoor, Elana; Accornero, Veronica H

    2010-04-01

    This manuscript provides an overview of the current scientific literature on the impact of maternal drug use, specifically opioids and cocaine, during pregnancy on the acute and long-term outcomes of infants and toddlers from birth through age 3 years. Emphasis with regard to opioids is placed on heroin and opioid substitutes used to treat opioid addiction, including methadone, which has long been regarded as the standard of care in pregnancy, and buprenorphine, which is increasingly being investigated and prescribed as an alternative to methadone. Controlled studies comparing methadone at high and low doses, as well as those comparing methadone with buprenorphine, are highlighted and the diagnosis and management of neonatal abstinence syndrome is discussed. Over the past two decades, attention of the scientific and lay communities has also been focused on the potential adverse effects of cocaine and crack cocaine, especially during the height of the cocaine epidemic in the United States. Herein, the findings are summarized from prospective studies comparing cocaine-exposed with non-cocaine-exposed infants and toddlers with respect to anthropometric growth, infant neurobehavior, visual and auditory function, and cognitive, motor, and language development. The potentially stigmatizing label of the so-called "crack baby" preceded the evidence now accumulating from well-designed prospective investigations that have revealed less severe sequelae in the majority of prenatally exposed infants than originally anticipated. In contrast to opioids, which may produce neonatal abstinence syndrome and infant neurobehavioral deficits, prenatal cocaine exposure appears to be associated with what has been described as statistically significant but subtle decrements in neurobehavioral, cognitive, and language function, especially when viewed in the context of other exposures and the caregiving environment which may mediate or moderate the effects. Whether these early findings may

  10. 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

  11. 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

  12. Development of prenatal screening--A historical overview.

    PubMed

    Cuckle, Howard; Maymon, Ron

    2016-02-01

    The first prenatal screening test to be introduced was based on a single maternal serum marker of neural tube defects. Since then various prenatal screening concepts have been developed, the most successful being Down syndrome risk estimation using multiple serum and ultrasound markers. Today a completely new approach to aneuploidy screening is available based on maternal plasma cell-free DNA testing. This has the potential to markedly improve screening performance but routine testing is currently too expensive in a public health setting. However, it can be cost-effective when used in combination with existing multi-maker tests. Some are beginning to broaden prenatal screening to include pregnancy complications such as pre-eclampsia that can be prevented using soluble low-dose aspirin treatment started before 16 weeks of gestation. Prenatal screening for cardiac abnormalities, fragile X syndrome and recessive genetic disorders is underutilized and public health planners should considered a more widespread application of available methods. PMID:26764253

  13. 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

  14. Prenatal Music Exposure Induces Long-Term Neural Effects

    PubMed Central

    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

  15. 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

  16. Prenatal lactation advice and intention to breastfeed: selected maternal characteristics.

    PubMed

    Sable, M R; Patton, C B

    1998-03-01

    This study uses data from the NICHD/MMIHS to examine the relationship among maternal characteristics and (a) whether mothers were asked by their prenatal providers to consider breastfeeding and (b) mothers' prenatal plans on how to feed their infants. Only 37% of the study population reported that their providers advised them to consider breastfeeding. Proportions of women who received prenatal advice to breastfeed and who intended to breastfeed were higher among married, Caucasian non-Hispanic, primiparous mothers, and women who were not enrolled in WIC. Women who received advice to breastfeed had significantly higher rates of planning to breastfeed (61.1%) than women who did not receive this advice (34.7%; p < 0.005). Efforts to meet the DHHS Healthy People 2000 objective for 75% of women to breastfeed in the early postpartum period will require a concentrated effort by prenatal providers to help women overcome their resistance to breastfeeding by offering support and encouragement. PMID:9543957

  17. 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

  18. The comparative effects of group prenatal care on psychosocial outcomes.

    PubMed

    Heberlein, Emily C; Picklesimer, Amy H; Billings, Deborah L; Covington-Kolb, Sarah; Farber, Naomi; Frongillo, Edward A

    2016-04-01

    To compare the psychosocial outcomes of the CenteringPregnancy (CP) model of group prenatal care to individual prenatal care, we conducted a prospective cohort study of women who chose CP group (N = 124) or individual prenatal care (N = 124). Study participants completed the first survey at study recruitment (mean gestational age 12.5 weeks), with 89% completing the second survey (mean gestational age 32.7 weeks) and 84% completing the third survey (6 weeks' postpartum). Multiple linear regression models compared changes by prenatal care model in pregnancy-specific distress, prenatal planning-preparation and avoidance coping, perceived stress, affect and depressive symptoms, pregnancy-related empowerment, and postpartum maternal-infant attachment and maternal functioning. Using intention-to-treat models, group prenatal care participants demonstrated a 3.2 point greater increase (p < 0.05) in their use of prenatal planning-preparation coping strategies. While group participants did not demonstrate significantly greater positive outcomes in other measures, women who were at greater psychosocial risk benefitted from participation in group prenatal care. Among women reporting inadequate social support in early pregnancy, group participants demonstrated a 2.9 point greater decrease (p = 0.03) in pregnancy-specific distress in late pregnancy and 5.6 point higher mean maternal functioning scores postpartum (p = 0.03). Among women with high pregnancy-specific distress in early pregnancy, group participants had an 8.3 point greater increase (p < 0.01) in prenatal planning-preparation coping strategies in late pregnancy and a 4.9 point greater decrease (p = 0.02) in postpartum depressive symptom scores. This study provides further evidence that group prenatal care positively impacts the psychosocial well-being of women with greater stress or lower personal coping resources. Large randomized studies are needed to establish conclusively the

  19. Prenatal and postnatal prevalence of Turner's syndrome: a registry study.

    PubMed Central

    Gravholt, C. H.; Juul, S.; Naeraa, R. W.; Hansen, J.

    1996-01-01

    OBJECTIVE--To study prevalence of Turner's syndrome in Denmark and to assess validity of prenatal diagnosis. DESIGN--Study of data on prenatal and postnatal Turner's syndrome in Danish Cytogenetic Central Register. SUBJECTS--All registered Turner's syndrome karyotypes (100 prenatal cases and 215 postnatal cases) during 1970-93. MAIN OUTCOME MEASURES--Prevalence of Turner's syndrome karyotypes among prenatally tested fetuses and Turner's syndrome among liveborn infants. RESULTS--Among infant girls, prevalence of Turner's syndrome was 32/100,000. Among female fetuses tested by amniocentesis, prevalence of Turner's syndrome karyotypes was 176/100,000 (relative risk of syndrome, 6.74 compared with prevalence among untested pregnancies). Among female fetuses tested by chorion villus sampling, prevalence of syndrome karyotypes was 392/100,000 (relative risk, 16.8). We excluded prenatal tests referred because of results of ultrasound scanning: among fetuses tested by amniocentesis revised relative risk was 5.68, while revised relative risk among fetuses tested by chorion villus sampling was 13.3. For 29 fetuses with prenatal diagnosis of possible Turner's syndrome, pregnancy was allowed to continue and 24 children were live born. Thirteen of these children were karyotyped postnatally, and diagnosis of Turner's syndrome had to be revised for eight, seven being normal girls and one boy. This gives tentative predictive value of amniocentesis in diagnosing Turner's syndrome of between 21% and 67%. There was no significant relation between mother's age and risk of Turner's syndrome. CONCLUSIONS--Discrepancy between prenatal and postnatal prevalence of Turner's syndrome challenges specificity of prenatal examination in diagnosing Turner's syndrome. PMID:8555850

  20. Endangering safe motherhood in Mozambique: prenatal care as pregnancy risk.

    PubMed

    Chapman, Rachel R

    2003-07-01

    Despite high infant and maternal mortality rates, many Mozambican women with access to prenatal services delay prenatal clinic consultations, limiting opportunity for prevention and treatment of preventable pregnancy complications. Ethnographic research, interviews with health providers and longitudinal pregnancy case studies with 83 women were conducted in Central Mozambique to examine pregnant women's underutilization of clinic-based prenatal services. The study found that pregnancy beliefs and prenatal practices reflect women's attempts to influence reproduction under conditions of vulnerability at multiple levels. Women reported high maternal reproductive morbidity, frequent pregnancy wastage, and immense pressure to bear children throughout their reproductive years. Reproductive vulnerability is intensified by poverty and an intense burden placed on poor, peri-urban women farmers for family subsistence and continuous fertility in a period of economic austerity, land shortages, and increasing social conflict and inequality. In this environment of economic insecurity exacerbated by congested living conditions, women report competing for scarce resources, including male support and income. This vulnerability heightens women's perceptions that they and their unborn infants will be targets of witchcraft or sorcery by jealous neighbors and kin. They respond by hiding pregnancy and delaying prenatal care. Within the context of women's perceived reproductive risks, delayed prenatal care can be seen as a strategy to protect pregnancy from purposeful human and spirit harm. Women mobilized limited resources to acquire prenatal care outside the formal clinic setting. It is concluded that provision of clinical prenatal services is insufficient to reduce reproductive risks for the most socially and economically marginal since it is their vulnerability that prevents women from using available services. Confidential maternity services and social safety nets for greater

  1. A Randomized Trial of Prenatal versus Postnatal Repair of Myelomeningocele

    PubMed Central

    Adzick, N. Scott; Thom, Elizabeth A.; Spong, Catherine Y.; Brock, John W.; Burrows, Pamela K.; Johnson, Mark P.; Howell, Lori J.; Farrell, Jody A.; Dabrowiak, Mary E.; Sutton, Leslie N.; Gupta, Nalin; Tulipan, Noel B.; D'Alton, Mary E.; Farmer, Diana L.

    2013-01-01

    Background Prenatal repair of myelomeningocele, the most common form of spina bifida, may result in better neurologic function than repair deferred until after delivery. We compared outcomes of in utero repair with standard postnatal repair. Methods We randomly assigned eligible women to undergo either prenatal surgery before 26 weeks of gestation or standard postnatal repair. One primary outcome was a composite of fetal or neonatal death or the need for placement of a cerebrospinal fluid shunt by the age of 12 months. Another primary outcome at 30 months was a composite of mental development and motor function. Results The trial was stopped for efficacy of prenatal surgery after the recruitment of 183 of a planned 200 patients. This report is based on results in 158 patients whose children were evaluated at 12 months. The first primary outcome occurred in 68% of the infants in the prenatal-surgery group and in 98% of those in the postnatal-surgery group (relative risk, 0.70; 97.7% confidence interval [CI], 0.58 to 0.84; P<0.001). Actual rates of shunt placement were 40% in the prenatal-surgery group and 82% in the postnatal-surgery group (relative risk, 0.48; 97.7% CI, 0.36 to 0.64; P<0.001). Prenatal surgery also resulted in improvement in the composite score for mental development and motor function at 30 months (P = 0.007) and in improvement in several secondary outcomes, including hindbrain herniation by 12 months and ambulation by 30 months. However, prenatal surgery was associated with an increased risk of preterm delivery and uterine dehiscence at delivery. Conclusions Prenatal surgery for myelomeningocele reduced the need for shunting and improved motor outcomes at 30 months but was associated with maternal and fetal risks. (Funded by the National Institutes of Health; ClinicalTrials.gov number, NCT00060606.) PMID:21306277

  2. Prenatal Diagnosis of Chromosome Abnormalities: A 13-Year Institution Experience

    PubMed Central

    Comas, Carmen; Echevarria, Mónica; Rodríguez, María Ángeles; Rodríguez, Ignacio; Serra, Bernat; Cirigliano, Vincenzo

    2012-01-01

    Objective: To analyze trends in screening and invasive prenatal diagnosis of chromosome abnormalities (CA) over a 13-year period and correlate them to changes in the national prenatal screening policy. Methods: We retrospectively reviewed Down syndrome (DS) screening tests and fetal karyotypes obtained by prenatal invasive testing (IT) in our fetal medicine unit between January 1999 and December 2011. Results: A total of 24,226 prenatal screening tests for DS and 11,045 invasive procedures have been analyzed. Over a 13-year period, utilization of non-invasive screening methods has significantly increased from 57% to 89%. The percentage of invasive procedures has declined from 49% to 12%, although the percentage of IT performed for maternal anxiety has increased from 22% to 55%. The percentage of detected CA increased from 2.5% to 5.9%. Overall, 31 invasive procedures are needed to diagnose 1 abnormal case, being 23 procedures in medical indications and 241 procedures in non-medical indications. Conclusions: Our experience on screening and invasive prenatal diagnostic practice shows a decrease of the number of IT, with a parallel decline in medical indications. There is an increasing efficiency of prenatal screening program to detect CA. Despite the increasing screening policies, our population shows a growing request for prenatal IT. The a priori low risk population shows a not negligible residual risk for relevant CA. This observation challenges the current prenatal screening strategy focused on DS; showing that the residual risk is higher than the current cut-off used to indicate an invasive technique. PMID:26859399

  3. 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

  4. Prenatal Maternal Stress and Cord Blood Innate and Adaptive Cytokine Responses in an Inner-City Cohort

    PubMed Central

    Wright, Rosalind J.; Visness, Cynthia M.; Calatroni, Agustin; Grayson, Mitchell H.; Gold, Diane R.; Sandel, Megan T.; Lee-Parritz, Aviva; Wood, Robert A.; Kattan, Meyer; Bloomberg, Gordon R.; Burger, Melissa; Togias, Alkis; Witter, Frank R.; Sperling, Rhoda S.; Sadovsky, Yoel; Gern, James E.

    2010-01-01

    Rationale: Stress-elicited disruption of immunity begins in utero. Objectives: Associations among prenatal maternal stress and cord blood mononuclear cell (CBMC) cytokine responses were prospectively examined in the Urban Environment and Childhood Asthma Study (n = 557 families). Methods: Prenatal maternal stress included financial hardship, difficult life circumstances, community violence, and neighborhood/block and housing conditions. Factor analysis produced latent variables representing three contexts: individual stressors and ecological-level strains (housing problems and neighborhood problems), which were combined to create a composite cumulative stress indicator. CBMCs were incubated with innate (lipopolysaccharide, polyinosinic-polycytidylic acid, cytosine-phosphate-guanine dinucleotides, peptidoglycan) and adaptive (tetanus, dust mite, cockroach) stimuli, respiratory syncytial virus, phytohemagglutinin, or medium alone. Cytokines were measured using multiplex ELISAs. Using linear regression, associations among increasing cumulative stress and cytokine responses were examined, adjusting for sociodemographic factors, parity, season of birth, maternal asthma and steroid use, and potential pathway variables (prenatal smoking, birth weight for gestational age). Measurements and Main Results: Mothers were primarily minorities (Black [71%], Latino [19%]) with an income less than $15,000 (69%). Mothers with the highest cumulative stress were older and more likely to have asthma and deliver lower birth weight infants. Higher prenatal stress was related to increased IL-8 production after microbial (CpG, PIC, peptidoglycan) stimuli and increased tumor necrosis factor-α to microbial stimuli (CpG, PIC). In the adaptive panel, higher stress was associated with increased IL-13 after dust mite stimulation and reduced phytohemagglutinin-induced IFN-γ. Conclusions: Prenatal stress was associated with altered innate and adaptive immune responses in CBMCs. Stress

  5. 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

  6. 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

  7. Prenatal Diagnosis of Lissencephaly Type 2 using Three-dimensional Ultrasound and Fetal MRI: Case Report and Review of the Literature.

    PubMed

    Tonni, Gabriele; Pattacini, Pierpaolo; Bonasoni, Maria Paola; Araujo Júnior, Edward

    2016-04-01

    Lissencephaly is a genetic heterogeneous autosomal recessive disorder characterized by the classical triad: brain malformations, eye anomalies, and congenital muscular dystrophy. Prenatal diagnosis is feasible by demonstrating abnormal development of sulci and gyri. Magnetic resonance imaging (MRI) may enhance detection of developmental cortical disorders as well as ocular anomalies. We describe a case of early diagnosis of lissencephaly type 2 detected at the time of routine second trimester scan by three-dimensional ultrasound and fetal MRI. Gross pathology confirmed the accuracy of the prenatal diagnosis while histology showed the typical feature of cobblestone cortex. As the disease is associated with poor perinatal prognosis, early and accurate prenatal diagnosis is important for genetic counseling and antenatal care. PMID:27088705

  8. 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

  9. 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

  10. Attitudes of pregnant women and male partners towards non-invasive prenatal testing and widening the scope of prenatal screening

    PubMed Central

    van Schendel, Rachèl V; Kleinveld, Johanna H; Dondorp, Wybo J; Pajkrt, Eva; Timmermans, Danielle R M; Holtkamp, Kim C A; Karsten, Margreet; Vlietstra, Anne L; Lachmeijer, Augusta M A; Henneman, Lidewij

    2014-01-01

    Non-invasive prenatal testing (NIPT) and its potential to test for multiple disorders has received much attention. This study explores attitudes of women and men towards NIPT, and their views on widening the scope of prenatal testing in a country with a low uptake of prenatal screening (The Netherlands). Five focus groups with low-risk pregnant women (n=28), three focus groups with men (n=19) and 13 interviews with high- and low-risk pregnant women were conducted. Participants felt that current prenatal screening has great disadvantages such as uncertain results and risk of miscarriage from follow-up diagnostics. Characteristics of NIPT (accurate, safe and early testing) could therefore diminish these disadvantages of prenatal screening and help lower the barrier for participation. This suggests that NIPT might allow couples to decide about prenatal testing based mostly on their will to test or not, rather than largely based on fear of miscarriage risk or the uncertainty of results. The lower barrier for participation was also seen as a downside that could lead to uncritical use or pressure to test. Widening the scope of prenatal testing was seen as beneficial for severe disorders, although it was perceived difficult to determine where to draw the line. Participants argued that there should be a limit to the scope of NIPT, avoiding testing for minor abnormalities. The findings suggest that NIPT could enable more meaningful decision-making for prenatal screening. However, to ensure voluntary participation, especially when testing for multiple disorders, safeguards on the basis of informed decision-making will be of utmost importance. PMID:24642832

  11. 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

  12. 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

  13. 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

  14. Thermoregulatory deficits following prenatal alcohol exposure: structural correlates.

    PubMed

    Zimmerberg, B

    1989-01-01

    Prenatal exposure to alcohol delays the development of thermoregulation in newborn rats. This study examined two possible physiological correlates of this effect. In the first experiment, the effect of prenatal alcohol exposure on the availability of brown adipose tissue for nonshivering thermogenesis was investigated in rat pups from birth to weanling age. Male and female pups were chosen from independent litters with one of three prenatal treatment histories: 35% ethanol-derived calories (35% EDC), pair-fed control (0% EDC), or lab-chow control (LC). Prenatal alcohol exposure resulted in decreased body weight from postnatal (PN) day 1 to 20 compared to controls. Similarly, alcohol-exposed subjects had lighter interscapular brown adipose tissue pads than controls. However, the proportion of brown adipose tissue to body weight in alcohol-exposed pups was not different from controls. It appears that thermoregulatory deficits at birth due to prenatal alcohol exposure are not due to decreased substrate availability. In the second experiment, the relative growth rate of the tail compared to the growth rate of the body was measured in male and female pups from the three prenatal treatment groups. Five-day-old rat pups exposed to alcohol prenatally had relatively slower tail growth than control pups. Since tail growth rate has been associated with ambient temperature, these results suggest that alcohol-exposed rat pups may be experiencing transient periods of cold stress in the nest because of their thermoregulatory deficiencies, which, in turn, could have important implications for neural and body growth retardation seen in Alcohol Related Birth Defects. PMID:2818842

  15. Sequential Sonographic Features of Primary Invasive Aspergillosis Involving Only the Thyroid Gland: A Case Report and Literature Review

    PubMed Central

    Kim, Su Ho; Kim, Jee Young; Park, Woo Chan; Kim, Mee Kyung; Kim, Tae Jung

    2016-01-01

    A 29-year-old woman with systemic lupus erythematosus (SLE) presented with palpitation and neck swelling. Initial sonography showed an ill-defined hypoechoic lesion in the right thyroid gland, mentioning subacute thyroiditis. The patient received conservative care for one week. However, her neck swelling worsened and she complained of dyspnea. Follow up sonography showed marked enlargement of both thyroid glands. Irregular infiltration of hypoechoic lesions was detected along the subcapsular region of both thyroid glands. She underwent immediate intubation to secure the airway and total thyroidectomy. Histopathological staining revealed features of fungal thyroiditis with fungal hyphae characteristic of Aspergillus. There was no abnormality in the lung or paranasal sinuses. In this report, we describe the sequential sonographic findings of invasive aspergillosis in the thyroid gland presenting as progressive enlargement without other organ involvement. PMID:27110341

  16. Sonographic assessment of the effect of vesicoureteral reflux and urinary tract infections on growth of the pediatric solitary kidney

    PubMed Central

    Ross, Ishai; Ahn, Hyeong Jun; Roelof, Brian; Barber, Theodore; Huynh, Virginia; Rockette, Alisha; Popovic, Mihailo; Chen, John J.; Steinhardt, George

    2015-01-01

    Summary Introduction Perusal of recent guidelines relating to proper evaluation of infants and children with urinary tract infection (UTI) suggests that the occurrence of vesicoureteral reflux (VUR) may not have the clinical import previously ascribed to this anatomic abnormality. Patients with a solitary kidney uniquely allow investigation of the effects of both vesicoureteral reflux (VUR) and urinary tract infection (UTI) on renal growth unencumbered with the inevitable questions of laterality that confound analysis in patients with two kidneys. Several previous studies with conflicting results have addressed whether vesicoureteral reflux (VUR) impacts ultimate renal size in children with a solitary kidney. Few published studies have considered the occurrence of both urinary tract infection (UTI) and VUR on the degree of compensatory hypertrophy. This is the largest series to date investigating the effect of both UTI and VUR on the degree of compensatory hypertrophy with time. Objective Our objective was to analyze sonographically determined renal growth in patients with a solitary kidney, stratifying for both the occurrence and severity of UTIs and the occurrence and severity of VUR. Study design We retrospectively reviewed the clinical history (including bladder and bowel dysfunction (BBD)) and radiology reports of 145 patients identified as having either a congenital or acquired solitary kidney in our pediatric urology practice from the prior 10 years. UTIs were tabulated by severity, where possible, and the grade of VUR was recorded based on the initial cystogram. Sonographically determined renal length was tabulated for all ultrasounds obtained throughout the study. Based on a mixed-effects model, we investigated the influence of UTI and VUR on renal growth. Results Of the 145 patients analyzed, 105 had no VUR and 39 had VUR (16 = Gr I&II, 11 = GIII, 12 = GIV&V). Comparison showed that there was no difference in the occurrence of UTI between those without

  17. 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

  18. 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

    Padmanabhan, Vasantha; Veiga-Lopez, Almudena; Herkimer, Carol; Abi Salloum, Bachir; Moeller, Jacob; Beckett, Evan; Sreedharan, Rohit

    2015-07-01

    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

  19. 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

  20. Prenatal hydronephrosis: postnatal evaluation and management.

    PubMed

    Vemulakonda, Vijaya; Yiee, Jenny; Wilcox, Duncan T

    2014-08-01

    Congenital hydronephrosis is one of the most common anomalies identified on antenatal ultrasound. The underlying etiology of congenital hydronephrosis is multifold, ranging from transient hydronephrosis in utero to clinically significant congenital anomalies of the kidney and urinary tract. While traditional management of hydronephrosis was aimed at relieving symptoms, the advent of routine prenatal ultrasound has led to a shift in the goal of treatment to prevention of renal injury in the asymptomatic patient. However, despite this focus on renal preservation, the diagnostic criteria for identification of children "at risk" for renal damage that can be alleviated by surgical treatment remain a subject of debate. Both antenatal and postnatal imaging studies have been evaluated as indicators for potential reversible renal damage and have been used as potential indicators of the need for surgical intervention. The aim of this review is to discuss the current literature regarding the role of postnatal clinical and radiographic evaluation to identify children who may benefit from early surgical intervention. PMID:24927968

  1. 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

  2. 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

  3. Prenatal Alcohol Exposure and Cellular Differentiation

    PubMed Central

    Veazey, Kylee J.; Muller, Daria; Golding, Michael C.

    2013-01-01

    Exposure to alcohol significantly alters the developmental trajectory of progenitor cells and fundamentally compromises tissue formation (i.e., histogenesis). Emerging research suggests that ethanol can impair mammalian development by interfering with the execution of molecular programs governing differentiation. For example, ethanol exposure disrupts cellular migration, changes cell–cell interactions, and alters growth factor signaling pathways. Additionally, ethanol can alter epigenetic mechanisms controlling gene expression. Normally, lineage-specific regulatory factors (i.e., transcription factors) establish the transcriptional networks of each new cell type; the cell’s identity then is maintained through epigenetic alterations in the way in which the DNA encoding each gene becomes packaged within the chromatin. Ethanol exposure can induce epigenetic changes that do not induce genetic mutations but nonetheless alter the course of fetal development and result in a large array of patterning defects. Two crucial enzyme complexes—the Polycomb and Trithorax proteins—are central to the epigenetic programs controlling the intricate balance between self-renewal and the execution of cellular differentiation, with diametrically opposed functions. Prenatal ethanol exposure may disrupt the functions of these two enzyme complexes, altering a crucial aspect of mammalian differentiation. Characterizing the involvement of Polycomb and Trithorax group complexes in the etiology of fetal alcohol spectrum disorders will undoubtedly enhance understanding of the role that epigenetic programming plays in this complex disorder. PMID:24313167

  4. 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.

  5. 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

  6. 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.

  7. 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 ...

  8. 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

  9. 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

  10. Prenatal Exposure to Polychlorinated Biphenyls: A Neuropsychologic Analysis

    PubMed Central

    Boucher, Olivier; Muckle, Gina; Bastien, Célyne H.

    2009-01-01

    Objectives A large body of literature documents the effects of prenatal exposure to polychlorinated biphenyls (PCBs) on cognitive development of children. Despite this fact, no integrative synthesis has been published yet to identify the cognitive functions that are particularly affected. Our aim is to review this literature in an attempt to identify the cognitive profile associated with prenatal PCB exposure. Data sources Studies were identified by searching the PubMed database for articles published before June 2008. We reviewed data from nine prospective longitudinal birth cohorts for different aspects of cognition. Data extraction Associations between indicators of prenatal PCB exposure and performance on cognitive tasks reported in the selected studies are summarized and classified as general cognitive abilities, verbal or visual–spatial skills, memory, attention, and executive functions. Data synthesis The most consistent effects observed across studies are impaired executive functioning related to increased prenatal PCB exposure. Negative effects on processing speed, verbal abilities, and visual recognition memory are also reported by most studies. Converging results from different cohort studies in which exposure arises from different sources make it unlikely that co-exposure with another associated contaminant is responsible for the observed effects. Conclusion Prenatal PCB exposure appears to be related to a relatively specific cognitive profile of impairments. Failure to assess functions that are specifically impaired may explain the absence of effects found in some studies. Our findings have implications in the selection of cognitive assessment methods in future studies. PMID:19165381

  11. Prenatal x-ray and childhood cancer in twins

    SciTech Connect

    Harvey, E.B.

    1983-01-01

    In order to evaluate the causal nature of the relationship between prenatal x-ray exposure and childhood cancer, a case control study was conducted in a population of over 32,000 twins born in the state of Connecticut from 1930-1969 and followed to age 15. Thirty-two incident cancer cases were identified by linking the Connecticut Twin and Tumor registries. Each case was matched with four controls on year of birth, sex, race, and survival. Prenatal x-ray information as well as reproductive, delivery and birth data were obtained from the hospital of birth, the physician providing prenatal care, private radiology groups and interviews with hospital staff. The case control study which obtained exposure information on selected subjects found an increased risk of childhood cancer from prenatal x-ray exposure. The risk associated with radiation exposure was elevated in the following subcategories: mother with history of pregnancy loss, a gravity greater than 1, under 30 years of age, and twins weighing five pounds or more at birth. The results, though based on small numbers, strengthen the association between prenatal x-ray exposure and childhood cancer.

  12. The effect of expanding Medicaid prenatal services on birth outcomes.

    PubMed Central

    Baldwin, L M; Larson, E H; Connell, F A; Nordlund, D; Cain, K C; Cawthon, M L; Byrns, P; Rosenblatt, R A

    1998-01-01

    OBJECTIVES: Over 80% of US states have implemented expansions in prenatal services for Medicaid-enrolled women, including case management, nutritional and psychosocial counseling, health education, and home visiting. This study evaluates the effect of Washington State's expansion of such services on prenatal care use and low-birthweight rates. METHODS: The change in prenatal care use and low-birthweight rates among Washington's Medicaid-enrolled pregnant women before and after initiation of expanded prenatal services was compared with the change in these outcomes in Colorado, a control state. RESULTS: The percentage of expected prenatal visits completed increased significantly, from 84% to 87%, in both states. Washington's low-birthweight rate decreased (7.1% to 6.4%, P = .12), while Colorado's rate increased slightly (10.4% to 10.6%, P = .74). Washington's improvement was largely due to decreases in low-birthweight rates for medically high-risk women (18.0% to 13.7%, P = .01, for adults; 22.5% to 11.5%, P = .03, for teenagers), especially those with preexisting medical conditions. CONCLUSIONS: A statewide Medicaid-sponsored support service and case management program was associated with a decrease in the low-birthweight rate of medically high-risk women. PMID:9807527

  13. Does prenatal stress affect the motoric development of rat pups?

    PubMed

    Patin, V; Vincent, A; Lordi, B; Caston, J

    2004-04-19

    Pregnant rats were exposed to an acute or a repeated stress (presence of a cat) either at the 10th or the 14th gestational day, and the development of their offspring was studied during the first 2 weeks of life. Motor development was measured by different tests: rooting reflex, vibrissae placing response, righting reflex, negative geotaxis. Other landmarks such as eye opening and spontaneous locomotor activity were also recorded. The results showed that, except for the rooting reflex which was most often enhanced (while not significantly) in prenatally stressed rats, the development of the vibrissae placing response, the righting reflex and the negative geotaxis behavior was delayed in the offspring of dams stressed at the 10th gestational day and not (or almost not) in the offspring of dams stressed at the 14th gestational day, the delay being more severe when the prenatal stress was repeated than when it was acutely administered. The spontaneous motor activity was also altered in repeatedly prenatally stressed rats, whatever the day of pregnancy when it was administered, while it was unaffected in acutely prenatally stressed animals. The delay in motor reflexes development was interpreted as alterations in maturation of nervous structures sustaining motor skills, while permanent decrease of spontaneous motor activity was explained by emotional and motivational alterations due to prenatal stress. PMID:15063088

  14. Non-invasive prenatal screening for trisomy 21: Consumers' perspectives.

    PubMed

    Higuchi, Emily C; Sheldon, Jane P; Zikmund-Fisher, Brian J; Yashar, Beverly M

    2016-02-01

    Non-invasive prenatal screening (NIPS) has the potential to dramatically increase the prenatal detection rate of Down syndrome because of improvements in safety and accuracy over existing tests. There is concern that NIPS could lead to more negative attitudes towards Down syndrome and less support for individuals with Down syndrome. To assess the impact of NIPS on support for prenatal testing, decision-making about testing, and beliefs or attitudes about Down syndrome, we performed an Internet-based experiment using adults (N = 1,789) recruited through Amazon Mechanical Turk. Participants were randomly assigned to read a mock news article about NIPS, a mock news article about amniocentesis, or no article. The content in the two articles varied only in their descriptions of the test characteristics. Participants then answered questions about their support for testing, hypothetical testing decision, and beliefs and attitudes about Down syndrome. Reading the mock NIPS news article predicted increased hypothetical test uptake. In addition, the NIPS article group also agreed more strongly that pregnant women, in general, should utilize prenatal testing. We also found that the more strongly participants supported prenatal testing for pregnant women, the less favorable their attitudes towards individuals with Down syndrome; providing some evidence that NIPS may indirectly result in more negative perceptions of individuals with this diagnosis. PMID:26553705

  15. 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. © 2016 Wiley Periodicals, Inc. PMID:26789280

  16. 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

  17. Early origins of longevity: prenatal exposures to food shortage among early Utah pioneers.

    PubMed

    Hanson, H A; Smith, K R

    2013-04-01

    Undernutrition during critical or sensitive prenatal periods may 'program' the fetus for increased chronic disease and mortality in later life. Using birth cohorts that were or were not exposed to severe food shortage in Utah in the mid-19th century, this study examines how in utero exposure to undernutrition is associated with mortality after age 50. The Utah Population Database is used to identify 1392 prenatally exposed individuals and 29,022 individuals from subsequent, unexposed birth cohorts. Gompertz hazards with parametric frailty show that males born between April and June of the famine period (and hence exposed during critical periods in utero during the winter months) have higher mortality risks compared with post-famine cohorts. Alternative Cox non-proportional hazard models suggest that females born during the same period have higher initial mortality risks (starting at age 50) that decline over time creating a mortality crossover with unexposed women at approximately age 70, a result not found for men. An ancillary sibling analysis that uses shared frailty survival models to compare individuals with prenatal exposure to undernutrition to their younger (post-famine) same-sex siblings finds no significant differences in adult mortality for males but the pattern for females support the findings from the previous analysis. Although findings are sensitive to model choice, this study presents evidence that is consistent with an association between undernutrition in utero and adult mortality, shows that effects may be sensitive to the duration and gestational period of exposure, and illustrates the differential exposure effects between genders. PMID:25054683

  18. 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

  19. The Italian haemophilia B mutation database: a tool for genetic counselling, carrier detection and prenatal diagnosis

    PubMed Central

    Tagariello, Giuseppe; Belvini, Donata; Salviato, Roberta; Di Gaetano, Rosanna; Zanotto, Daniela; Radossi, Paolo; Risato, Renzo; Sartori, Roberto; Tassinari, Cristina

    2007-01-01

    Introduction The Italian database of factor IX gene (F9) mutations has been built since 2001 and is, so far, the most practical instrument for comprehensive genetic counselling, carrier detection and prenatal diagnosis. Over time the haemophilia B database has been enriched by entries on a larger number of patients and molecular genetic data identifying heterogeneous mutations spanning the entire F9. Methods Conformation sensitive gel electrophoresis is a variant of heteroduplex analysis, which has been applied for screening F9 for mutations, which are further fully characterised by direct sequencing of the amplified mutated regions. This project has involved 29 Italian haemophilia centres and provides data concerning the analysis of a cohort of 306 unrelated patients with haemophilia B (191 with severe, 67 with moderate and 48 with mild disease, including 8 patients with severe haemophilia B with inhibitors). The recorded data include levels of factor IX clotting activity, inhibitor status and clinical severity. Results Detailed analysis of the mutations revealed 164 different mutations, that are considered as unique molecular events (8 large deletions, 11 small deletions, 1 combined deletion/ insertion, 2 insertions, 104 missense, 20 nonsense, 14 mutations in a splicing site, 3 in the promoter and 1 silent). The data recorded in the Italian F9 mutation database provided the basis to study 85 families with haemophilia B, involving 180 females (20 obligate carriers, 106 carriers and 54 non-carriers) and enabled 14 prenatal diagnoses to be made in 12 females. Conclusions Genetic analysis is required to determine female carrier status reliably. Female relatives may request carrier analysis, when a male relative is first diagnosed as having haemophilia or when they are pregnant. At present, the data collected in the Italian national register of mutations in haemophilia B provide the opportunity to perform prompt and precise determination of carrier status and prenatal

  20. [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

  1. Prenatal Alcohol Exposure Is Associated with Conduct Disorder in Adolescence: Findings from a Birth Cohort

    ERIC Educational Resources Information Center

    Larkby, Cynthia A.; Goldschmidt, Lidush; Hanusa, Barbara H.; Day, Nancy L.

    2011-01-01

    Objective: To evaluate the association between prenatal alcohol exposure and the rate of conduct disorder in exposed compared with unexposed adolescents. Method: Data for these analyses are from a longitudinal study of prenatal substance exposures. Women were interviewed at their fourth and seventh prenatal months, and with their children, at…

  2. 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…

  3. 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…

  4. Prenatal Stress and Risk for Psychopathology: Specific Effects or Induction of General Susceptibility?

    ERIC Educational Resources Information Center

    Huizink, Anja C.; Mulder, Edu J. H.; Buitelaar, Jan K.

    2004-01-01

    This review focuses on prenatal stress as a risk factor for psychopathology. Evidence from animal studies is summarized, and the relevance of prenatal stress models in animals for human studies is discussed. In the offspring of prenatally stressed animals, overactivity and impaired negative feedback regulation of the hypothalamic-pituitary-adrenal…

  5. The Relationship between Prenatal Care, Personal Alcohol Abuse and Alcohol Abuse in the Home Environment

    ERIC Educational Resources Information Center

    Grekin, Emily R.; Ondersma, Steven J.

    2009-01-01

    Aims: Nearly one-fourth of African-American women receive no prenatal care during the first trimester of pregnancy. The aim of the current study is to identify factors that underlie inadequate prenatal care among African-American women. Maternal alcohol abuse has been examined as one risk factor for inadequate prenatal care, but findings have been…

  6. Prenatal Transportation Stress Alters Temperament and Serum Cortisol Concentrations in Suckling Brahman Calves

    Technology Transfer Automated Retrieval System (TEKTRAN)

    This experiment examined the relationship between prenatal stress and subsequent calf temperament through weaning. The prenatal stressor utilized was repeated transportation of pregnant Brahman cows for 2 hours at 60, 80, 100, 120, and 140 days of gestation. Prenatally stressed calves (n = 41) were ...

  7. Prenatal diagnosis of limb abnormalities: role of fetal ultrasonography

    PubMed Central

    Ermito, Santina; Dinatale, Angela; Carrara, Sabina; Cavaliere, Alessandro; Imbruglia, Laura; Recupero, Stefania

    2009-01-01

    Fetal ultrasonografy is the most important tool to provide prenatal diagnosis of fetal anomalies. The detection of limb abnormalities may be a complex problem if the correct diagnostic approch is not established. A careful description of the abnormality using the rigth nomenclature is the first step. Looking for other associated abnormalities is the threshold to suspect chromosomal abnormalities or single gene disorder. According to the patogenic point of view, limb abnormalities may be the result of malformation, deformation, or disruption. The prenatal diagnosis and the management of limb abnormalities involve a multidisciplinary team of ostetrician, radiologist/sonologist, clinical geneticist, neonatologist, and orthopedic surgeons to provide the parents with the information regarding etiology of the disorder, prognosis, option related to the pregnancy and recurrence risk for future pregnancies. The aim of this review is to describe the importance of detailed fetal ultrasonography in prenatal diagnosis of limb abnormalities. PMID:22439035

  8. Prenatal screening for trisomy 21: recent advances and guidelines.

    PubMed

    Canick, Jacob

    2012-06-01

    The performance of prenatal screening tests for the identification of trisomy 21 (Down syndrome) has markedly improved since the 1970s and early 1980s when maternal age was the sole mode of screening the general pregnant population. With the discovery of second trimester serum markers in the 1980s and 1990s and implementation of double, triple, and quad marker testing; the discovery of first trimester serum and ultrasound markers in the 1990s and implementation of the combined test; and the development of the integrated test and sequential screening strategies over the past decade, the performance of screening has improved to a detection rate of 90%–95% at a false positive rate of 2%–5%. In this review, I will describe the advances in prenatal screening for trisomy 21, present current screening strategies, and discuss guidelines published by professional societies and regulatory bodies, with a focus on current prenatal screening practice in the USA. PMID:21790505

  9. Ethanol sensitivity in rats: effect of prenatal stress.

    PubMed

    DeTurck, K H; Pohorecky, L A

    1987-01-01

    The present study examined whether sensitivity to ethanol could be altered by prenatal stress exposure. Pregnant female rats were handled during the third week of gestation and the offspring were tested for ethanol sensitivity as adults. Compared to control offspring, the following characteristic responses to acute ethanol were significantly attenuated in prenatally stress-exposed rats: the decreases in body temperature, motor coordination and startle amplitude, and the increases in circulating corticosterone and free fatty acids. Ethanol-induced impairment of swim performance, in contrast, was potentiated in these animals. Since no differences were found in blood or breath ethanol levels, the rate of ethanol metabolism was probably not affected by prenatal stress. Rather, the altered responses appear to result from long-term changes in central nervous system sensitivity to ethanol. PMID:3659158

  10. Women’s Experiences of Group Prenatal Care

    PubMed Central

    Novick, Gina; Sadler, Lois S.; Kennedy, Holly Powell; Cohen, Sally S.; Groce, Nora E.; Knafl, Kathleen A.

    2011-01-01

    Group prenatal care (GPNC) is an innovative alternative to individual prenatal care. In this longitudinal study we used ethnographic methods to explore African American and Hispanic women’s experiences of receiving GPNC in two urban clinics. Methods included individual, in-depth, semistructured interviews of women and group leaders in GPNC, participant observation of GPNC sessions, and medical record review. GPNC offered positive experiences and met many of the women’s expressed preferences regarding prenatal care. Six themes were identified, which represented separate aspects of women’s experiences: investment, collaborative venture, a social gathering, relationships with boundaries, learning in the group, and changing self. Taken together, the themes conveyed the overall experience of GPNC. Women were especially enthusiastic about learning in groups, about their relationships with group leaders, and about having their pregnancy-related changes and fears normalized. There were also important boundaries on relationships between participants, and some women wished for greater privacy during physical examinations. PMID:20693516

  11. Prenatally diagnosed urinary tract abnormalities: long-term outcome.

    PubMed

    Thomas, D F M

    2008-06-01

    The long-term outcomes of prenatally detected uropathies are poorly documented. Limited data on fetal intervention show a possible reduction in early mortality from pulmonary hypoplasia, but no beneficial effect on long-term prognosis for renal function. Prenatally detected vesicoureteric reflux (VUR) is characterised by males with high-grade primary reflux, who are at long-term risk of renal impairment. Prenatal diagnosis and surgical intervention have contributed to a reduction in long-term morbidity in children with pelviureteric junction (PUJ) obstruction. By the same token, many children have almost certainly undergone unnecessary early pyeloplasty for an obstruction that would have resolved spontaneously. Multicystic dysplastic kidney (MCDK) carries a low (1%) risk of hypertension in childhood. The limited evidence on the long-term outcome of mild dilatation (pelvicaliectasis) indicates this is a largely innocent finding, which carries no increased risk of morbidity. PMID:18037084

  12. Commercial Landscape of noninvasive prenatal testing in the United States

    PubMed Central

    Agarwal, Ashwin; Sayres, Lauren C.; Cho, Mildred K.; Cook-Deegan, Robert; Chandrasekharan, Subhashini

    2014-01-01

    Cell-free fetal DNA-based noninvasive prenatal testing (NIPT) could significantly change the paradigm of prenatal testing and screening. Intellectual property (IP) and commercialization promise to be important components of the emerging debate about clinical implementation of these technologies. We have assembled information about types of testing, prices, turnaround times and reimbursement of recently launched commercial tests in the United States from the trade press, news articles, and scientific, legal, and business publications. We also describe the patenting and licensing landscape of technologies underlying these tests and ongoing patent litigation in the United States. Finally, we discuss how IP issues may affect clinical translation of NIPT and their potential implications for stakeholders. Fetal medicine professionals (clinicians and researchers), genetic counselors, insurers, regulators, test developers and patients may be able to use this information to make informed decisions about clinical implementation of current and emerging noninvasive prenatal tests. PMID:23686656

  13. Prenatal pharmacotherapy for fetal anomalies: a 2011 update.

    PubMed

    Hui, Lisa; Bianchi, Diana W

    2011-07-01

    Fetal therapy can be defined as any prenatal treatment administered to the mother with the primary indication to improve perinatal or long-term outcomes for the fetus or newborn. This review provides an update of the pharmacological therapies that are solely directed at the fetus with anomalies and outlines a future transcriptomic approach. Fetal anomalies targeted with prenatal pharmacotherapy are a heterogeneous group of structural, endocrine, and metabolic conditions, including congenital cystic adenomatoid malformation (CCAM), congenital adrenal hyperplasia, congenital heart block, fetal tachyarrhythmias, inborn errors of metabolism, fetal thyroid disorders, and polyhydramnios. To date, the majority of pharmacotherapies for fetal anomalies have been evaluated only in retrospective, uncontrolled studies. The way forward will be with an evidence-based approach to prenatal pharmacological interventions. PMID:21638296

  14. Hirschprung's disease.

    PubMed Central

    Sullivan, P B

    1996-01-01

    Current evidence on the pathogenesis of Hirschprung's disease, then, favours the 'abnormal microenvironment' hypothesis wherein the developing and migrating normal neural crest cells confront a segmentally abnormal and hostile microenvironment in the colon. This hypothesis would account both for the congenital absence of ganglion cells in the wall of colon and also for the range of enteric neuronal abnormalities encountered including neuronal dysplasia, hypoganglionosis, and zonal aganglionosis. The abnormal constitution of the mesenchymal and basement membrane extracellular matrix in the affected segment of colon is presumably genetically determined and further understanding of the pathogenesis of this disorder will emerge as molecular geneticists characterise the specific genes and gene products associated with Hirschprung's disease. Advances in this field should permit gene probes to be developed to facilitate prenatal and postnatal diagnosis. PMID:8660047

  15. Prenatal stress enhances responsiveness to cocaine.

    PubMed

    Kippin, Tod E; Szumlinski, Karen K; Kapasova, Zuzana; Rezner, Betsy; See, Ronald E

    2008-03-01

    Early environmental events have profound influences on a wide range of adult behavior. In the current study, we assessed the influence of maternal stress during gestation on psychostimulant and neurochemical responsiveness to cocaine, cocaine self-administration, and reinstatement of cocaine-seeking in adult offspring. Pregnant, female Sprague-Dawley rats were subjected to either no treatment or to restraint stress three times per day for the last 7 days of gestation and cocaine-related behavior was assessed in offspring at 10 weeks of age. Relative to controls, a noncontingent cocaine injection elevated locomotor activity as well as nucleus accumbens levels of extracellular dopamine and glutamate to a greater extent in both cocaine-naive and cocaine-experienced prenatal stress (PNS) rats and elevated prefrontal cortex dopamine in cocaine-experienced PNS rats. To assess the impact of PNS on cocaine addiction-related behavior, rats were trained to lever press for intravenous (i.v.) infusions of cocaine (0.25, 0.5, or 1 mg/kg/infusion), with each infusion paired with a light+tone-conditioned stimulus. Lever-pressing was extinguished and cocaine-seeking reinstated by re-exposure to the conditioned cues or by intraperitoneal cocaine-priming injections (5 or 10 mg/kg). PNS elevated active lever responding both during extinction and cocaine-primed reinstatement, but not during self-administration or conditioned-cued reinstatement. PNS also did not alter intake during self-administration. These findings demonstrate that PNS produces enduring nervous system alterations that increase the psychomotor stimulant, motivational, and neurochemical responsiveness to noncontingent cocaine. Thus, early environmental factors contribute to an individual's initial responsiveness to cocaine and propensity to relapse to cocaine-seeking. PMID:17487224

  16. Mental retardation and prenatal methylmercury toxicity

    SciTech Connect

    Trasande, L.; Schechter, C.B.; Haynes, K.A.; Landrigan, P.J.

    2006-03-15

    Methylmercury (MeHg) is a developmental neurotoxicant; exposure results principally from consumption of seafood contaminated by mercury (Hg). In this analysis, the burden of mental retardation (MR) associated with methylmercury exposure in the 2000 U.S. birth cohort is estimated, and the portion of this burden attributable to mercury (Hg) emissions from coal-fired power plants is identified. The aggregate loss in cognition associated with MeHg exposure in the 2000 U.S. birth cohort was estimated using two previously published dose-response models that relate increases in cord blood Hg concentrations with decrements in IQ. MeHg exposure was assumed not to be correlated with native cognitive ability. Previously published estimates were used to estimate economic costs of MR caused by MeHg. Downward shifts in IQ resulting from prenatal exposure to MeHg of anthropogenic origin are associated with 1,566 excess cases of MR annually (range: 376-14,293). This represents 3.2% of MR cases in the US (range: 0.8%-29.2%). The MR costs associated with decreases in IQ in these children amount to $2.0 billion/year (range: $0.5-17.9 billion). Hg from American power plants accounts for 231 of the excess MR cases year (range: 28-2,109), or 0.5% (range: 0.06%-4.3%) of all MR. These cases cost $289 million (range: $35 million-2.6 billion). Toxic injury to the fetal brain caused by Hg emitted from coal-fired power plants exacts a significant human and economic toll on American children.

  17. Prenatal exposure to amphetamines. Risks and adverse outcomes in pregnancy.

    PubMed

    Plessinger, M A

    1998-03-01

    Based on findings in humans and the confirmation of prenatal exposures in animals, amphetamines and methamphetamines increase the risk of an adverse outcome when abused during pregnancy. Clefting, cardiac anomalies, and fetal growth reduction deficits that have been seen in infants exposed to amphetamines during pregnancy have all been reproduced in animal studies involving prenatal exposures to amphetamines. The differential effects of amphetamines between genetic strains of mice and between species demonstrate that pharmacokinetics and the genetic disposition of the mother and developing embryo can have an enormous influence on enhancing or reducing these potential risks. The effects of prenatal exposure to amphetamines in producing altered behavior in humans appear less compelling when one considers other confounding variables of human environment, genetics, and polydrug abuse. In view of the animal data concerning altered behavior and learning tasks in comparison with learning deficits observed in humans, the influence of the confounding variables in humans may serve to increase the sensitivity of the developing embryo/fetus to prenatal exposure to amphetamines. These factors and others may predispose the developing conceptus to the damaging effects of amphetamines by actually lowering the threshold of susceptibility at the sites where damage occurs. Knowledge of the effects of prenatal exposure of the fetus and the mother to designer amphetamines is lacking. Based on the few studies in which designer drugs have been examined in animal models, more questions are raised than answered. Possible reasons why no malformations or significant fetal effects were found in the study by St. Omer include the genetic strain of rat used, the conservative exposure profile, or the fact that the placenta metabolized MDMA before reaching the embryo. These questions underscore the need for further investigations concerning the prenatal exposure effects of designer compounds and

  18. Effects of Prenatal Alcohol Exposure and ADHD on Adaptive Functioning

    PubMed Central

    Ware, Ashley L.; Glass, Leila; Crocker, Nicole; Deweese, Benjamin N.; Coles, Claire D.; Kable, Julie A.; May, Philip A.; Kalberg, Wendy O.; Sowell, Elizabeth R.; Jones, Kenneth Lyons; Riley, Edward P.; Mattson, Sarah N.

    2014-01-01

    Background Heavy prenatal alcohol exposure and attention-deficit/hyperactivity disorder (ADHD) are associated with adaptive behavior deficits. The present study examined the interaction between these two factors on parent ratings of adaptive behavior. Methods As part of a multisite study, primary caregivers of 317 children (8–16y, M=12.38) completed the Vineland Adaptive Behavior Scales-II (VABS-II). Four groups of subjects were included: children with prenatal alcohol exposure with (AE+, n = 82) and without ADHD (AE−, n = 34), children with ADHD (ADHD, n = 71), and control children (CON, n = 130). VABS-II domain scores (Communication, Daily Living Skills, Socialization) were examined using separate 2 (Alcohol Exposure [AE]) × 2 (ADHD diagnosis) between-subjects ANCOVAs. Results There were significant main effects of AE (p < .001) and ADHD (p < .001) on all VABS-II domains; alcohol-exposed children had lower scores than children without prenatal alcohol exposure and children with ADHD had lower scores than those without ADHD. There was a significant AE × ADHD interaction effect for Communication [F (1, 308) = 7.49, p = .007, partial η2 =.024], but not Daily Living Skills or Socialization domains (ps > .27). Follow up analyses in the Communication domain indicated the effects of ADHD were stronger in comparison subjects (ADHD vs. CON) than exposed subjects (AE+ vs. AE−) and the effects of alcohol exposure were stronger in subjects without ADHD (AE− vs. CON) than in subjects with ADHD (AE+ vs. ADHD). Conclusion As found previously, both prenatal alcohol exposure and ADHD increase adaptive behavior deficits in all domains. However, these two factors interact to cause the greatest impairment in children with both prenatal alcohol exposure and ADHD for communication abilities. These results further demonstrate the deleterious effects of prenatal alcohol exposure and broadens our understanding of how ADHD exacerbates behavioral outcomes in this population

  19. Prenatal screening: current practice, new developments, ethical challenges.

    PubMed

    de Jong, Antina; Maya, Idit; van Lith, Jan M M

    2015-01-01

    Prenatal screening pathways, as nowadays offered in most Western countries consist of similar tests. First, a risk-assessment test for major aneuploides is offered to pregnant women. In case of an increased risk, invasive diagnostic tests, entailing a miscarriage risk, are offered. For decades, only conventional karyotyping was used for final diagnosis. Moreover, several foetal ultrasound scans are offered to detect major congenital anomalies, but the same scans also provide relevant information for optimal support of the pregnancy and the delivery. Recent developments in prenatal screening include the application of microarrays that allow for identifying a much broader range of abnomalities than karyotyping, and non-invasive prenatal testing (NIPT) that enables reducing the number of invasive tests for aneuploidies considerably. In the future, broad NIPT may become possible and affordable. This article will briefly address the ethical issues raised by these technological developments. First, a safe NIPT may lead to routinisation and as such challenge the central issue of informed consent and the aim of prenatal screening: to offer opportunity for autonomous reproductive choice. Widening the scope of prenatal screening also raises the question to what extent 'reproductive autonomy' is meant to expand. Finally, if the same test is used for two different aims, namely detection of foetal anomalies and pregnancy-related problems, non-directive counselling can no longer be taken as a standard. Our broad outline of the ethical issues is meant as an introduction into the more detailed ethical discussions about prenatal screening in the other articles of this special issue. PMID:25521968

  20. Dacryocystocele on prenatal ultrasonography: diagnosis and postnatal outcomes

    PubMed Central

    2015-01-01

    Purpose: To report the incidence of dacryocystoceles detected by prenatal ultrasonography (US) and their postnatal outcomes and to determine the factors associated with the postnatal persistence of dacryocystoceles at birth. Methods: We retrospectively reviewed the prenatal US database at our institution for the period between January 2012 and December 2013. The medical records of women who had fetuses diagnosed with dacryocystocel larger than 5 mm were reviewed for maternal age, gestational age (GA) at detection, size and side of the dacryocystoceles, delivery, and postnatal information, such as GA at delivery, delivery mode, and gender of the neonate. Results: A total of 49 singletons were diagnosed with a dacryocystocele on prenatal US, yielding an overall incidence of 0.43%. The incidence of dacryocystoceles was the highest at the GA of 27 weeks and decreased toward term. Of the 49 fetuses including three of undeter mined gender, 25 (54%) were female. The mean GA at first detection was 31.2 weeks. The dacryocystocele was unilateral in 29 cases, with a mean maximum diameter of 7 mm. Spontaneous resolution at birth was documented in 35 out of 46 neonates (76%), including six with prenatal resolution. Multivariate analysis demonstrated that GA at delivery was a significant predictor of the postnatal persistence of dacryocystoceles (P=0.045). Conclusion: The overall incidence of prenatal dacryocystoceles was 0.43%; the incidence was higher in the early third trimester and decreased thereafter. Prenatal dacryocystoceles resolved in 76% of the patients at birth, and the GA at delivery was a significant predictor of postnatal persistence. PMID:25475649

  1. A case of mucolipidosis II presenting with prenatal skeletal dysplasia and severe secondary hyperparathyroidism at birth

    PubMed Central

    Heo, Ju Sun; Choi, Ka Young; Sohn, Se Hyoung; Kim, Curie; Kim, Yoon Joo; Shin, Seung Han; Lee, Jae Myung; Lee, Juyoung; Sohn, Jin A; Lim, Byung Chan; Lee, Jin A; Choi, Chang Won; Kim, Ee-Kyung; Kim, Beyong Il; Choi, Jung-Hwan

    2012-01-01

    Mucolipidosis II (ML II) or inclusion cell disease (I-cell disease) is a rarely occurring autosomal recessive lysosomal enzyme-targeting disease. This disease is usually found to occur in individuals aged between 6 and 12 months, with a clinical phenotype resembling that of Hurler syndrome and radiological findings resembling those of dysostosis multiplex. However, we encountered a rare case of an infant with ML II who presented with prenatal skeletal dysplasia and typical clinical features of severe secondary hyperparathyroidism at birth. A female infant was born at 37+1 weeks of gestation with a birth weight of 1,690 g (<3rd percentile). Prenatal ultrasonographic findings revealed intrauterine growth retardation and skeletal dysplasia. At birth, the patient had characteristic features of ML II, and skeletal radiographs revealed dysostosis multiplex, similar to rickets. In addition, the patient had high levels of alkaline phosphatase and parathyroid hormone, consistent with severe secondary neonatal hyperparathyroidism. The activities of β-D-hexosaminidase and α-N-acetylglucosaminidase were moderately decreased in the leukocytes but were 5- to 10-fold higher in the plasma. Examination of a placental biopsy specimen showed foamy vacuolar changes in trophoblasts and syncytiotrophoblasts. The diagnosis of ML II was confirmed via GNPTAB genetic testing, which revealed compound heterozygosity of c.3091C>T (p.Arg1031X) and c.3456_3459dupCAAC (p.Ile1154GlnfsX3), the latter being a novel mutation. The infant was treated with vitamin D supplements but expired because of asphyxia at the age of 2 months. PMID:23227064

  2. A case of mucolipidosis II presenting with prenatal skeletal dysplasia and severe secondary hyperparathyroidism at birth.

    PubMed

    Heo, Ju Sun; Choi, Ka Young; Sohn, Se Hyoung; Kim, Curie; Kim, Yoon Joo; Shin, Seung Han; Lee, Jae Myung; Lee, Juyoung; Sohn, Jin A; Lim, Byung Chan; Lee, Jin A; Choi, Chang Won; Kim, Ee-Kyung; Kim, Han-Suk; Kim, Beyong Il; Choi, Jung-Hwan

    2012-11-01

    Mucolipidosis II (ML II) or inclusion cell disease (I-cell disease) is a rarely occurring autosomal recessive lysosomal enzyme-targeting disease. This disease is usually found to occur in individuals aged between 6 and 12 months, with a clinical phenotype resembling that of Hurler syndrome and radiological findings resembling those of dysostosis multiplex. However, we encountered a rare case of an infant with ML II who presented with prenatal skeletal dysplasia and typical clinical features of severe secondary hyperparathyroidism at birth. A female infant was born at 37(+1) weeks of gestation with a birth weight of 1,690 g (<3rd percentile). Prenatal ultrasonographic findings revealed intrauterine growth retardation and skeletal dysplasia. At birth, the patient had characteristic features of ML II, and skeletal radiographs revealed dysostosis multiplex, similar to rickets. In addition, the patient had high levels of alkaline phosphatase and parathyroid hormone, consistent with severe secondary neonatal hyperparathyroidism. The activities of β-D-hexosaminidase and α-N-acetylglucosaminidase were moderately decreased in the leukocytes but were 5- to 10-fold higher in the plasma. Examination of a placental biopsy specimen showed foamy vacuolar changes in trophoblasts and syncytiotrophoblasts. The diagnosis of ML II was confirmed via GNPTAB genetic testing, which revealed compound heterozygosity of c.3091C>T (p.Arg1031X) and c.3456_3459dupCAAC (p.Ile1154GlnfsX3), the latter being a novel mutation. The infant was treated with vitamin D supplements but expired because of asphyxia at the age of 2 months. PMID:23227064

  3. Chromosomal Microarrays for the Prenatal Detection of Microdeletions and Microduplications.

    PubMed

    Wou, Karen; Levy, Brynn; Wapner, Ronald J

    2016-06-01

    Chromosomal microarray analysis has replaced conventional G-banded karyotype in prenatal diagnosis as the first-tier test for the cytogenetic detection of copy number imbalances in fetuses with/without major structural abnormalities. This article reviews the basic technology of microarray; the value and clinical significance of the detection of microdeletions, microduplications, and other copy number variants; as well as the importance of genetic counseling for prenatal diagnosis. It also discusses the current status of noninvasive screening for some of these microdeletion and microduplication syndromes. PMID:27235911

  4. Prenatal Diagnosis of Concurrent Achondroplasia and Klinefelter Syndrome

    PubMed Central

    Perez-Carbajo, Esther; Sanfrutos-Llorente, Luis; Cruz-Melguizo, Sara; Martinez-Payo, Cristina; Iglesias-Goy, Enrique

    2015-01-01

    Achondroplasia is the most frequent nonlethal skeletal dysplasia, with a prevalence of 1 : 5000 to 1 : 40,000 live births, and it is caused by a fibroblast growth factor receptor alteration. The combination of achondroplasia and Klinefelter syndrome is extremely rare and just four reports have been published in the literature, which were all diagnosed postnatally. We report the fifth case described of this uncommon association and its prenatal diagnosis. In cases of prenatal diagnosis of achondroplasia with additional suspicious morphological abnormalities, an invasive test such as amniocentesis must be carried out to assess the karyotype normality. PMID:25789188

  5. Severe subdural hemorrhage due to minimal prenatal trauma.

    PubMed

    Piastra, Marco; Pietrini, Domenico; Massimi, Luca; Caldarelli, Massimo; De Luca, Daniele; Del Lungo, Laura Minguell; De Carolis, Maria Pia; Di Rocco, Concezio; Conti, Giorgio; Zecca, Enrico

    2009-12-01

    The authors report a case of minimal prenatal trauma producing a large subdural hematoma in the fetus, which was diagnosed in utero by MR imaging. The occurrence of such a complication is extremely rare in the absence of significant maternal trauma. Prenatally diagnosed intracranial hemorrhages, particularly those that are subdural in origin, have a poor prognosis in most cases. After birth, brain compression required a complex neurosurgical intervention because simple hematoma evacuation was not possible. The clinical and neurological outcome at 6 months was excellent, as confirmed by the neuroimaging findings. PMID:19951041

  6. Advice on Pre-natal Work and Employment

    PubMed Central

    Bryant, Heather E.

    1989-01-01

    Most pregnant women are now employed during pregnancy, and almost all pregnant women do physical work of some kind. The author reviews the four major considerations in the provision of good prenatal advice for the working woman: the woman and her health status, the pregnancy itself, the job, and the woman's circumstances. Particular features of the job, including physical, chemical, biological, and psychological factors, are noted. For further information on specific work exposures, the family physician can consult expert sources. The author outlines general features of prenatal information that can be provided for all women who work during pregnancy. PMID:21248928

  7. Screening for gonorrhea in a prenatal clinic in Southeast Asia.

    PubMed

    Goh, T H; Ngeow, Y F; Teoh, S K

    1981-01-01

    Screening by culture of endocervical specimens revealed four cases of gonorrhea among 744 pregnant women attending the prenatal clinic at the University Hospital in Kuala Lumpur, Malaysia. The observed prevalence of gonorrhea (0.54%) in pregnant women is similar to that in Great Britain (0.2-0.7%), but lower than the prevalences reported for North America (2.5-7.5%) and Thailand (11.9%). The results indicate that routine screening of pregnant women attending prenatal clinics in Malaysia would aid in the control of gonorrhea in that country. PMID:7256495

  8. Prenatal diagnosis of concurrent achondroplasia and klinefelter syndrome.

    PubMed

    Perez-Carbajo, Esther; Zapardiel, Ignacio; Sanfrutos-Llorente, Luis; Cruz-Melguizo, Sara; Martinez-Payo, Cristina; Iglesias-Goy, Enrique

    2015-01-01

    Achondroplasia is the most frequent nonlethal skeletal dysplasia, with a prevalence of 1 : 5000 to 1 : 40,000 live births, and it is caused by a fibroblast growth factor receptor alteration. The combination of achondroplasia and Klinefelter syndrome is extremely rare and just four reports have been published in the literature, which were all diagnosed postnatally. We report the fifth case described of this uncommon association and its prenatal diagnosis. In cases of prenatal diagnosis of achondroplasia with additional suspicious morphological abnormalities, an invasive test such as amniocentesis must be carried out to assess the karyotype normality. PMID:25789188

  9. Prenatal diagnosis of Chudley-McCullough syndrome.

    PubMed

    Chapman, Teresa; Perez, Francisco A; Ishak, Gisele E; Doherty, Dan

    2016-09-01

    Chudley-McCullough syndrome (CMS) is an autosomal-recessive disorder characterized by a complex brain malformation and profound congenital sensorineural hearing loss. Postnatal brain imaging findings include ventriculomegaly, partial agenesis of corpus callosum, inferior cerebellar dysplasia, arachnoid cysts, and malformations of cortical development including frontal subcortical heterotopia and polymicrogyria. Prenatal diagnosis of CMS is important due to the markedly less severe neurodevelopmental prognosis compared to disorders with similar brain imaging findings. We report prenatal imaging features that help distinguish CMS from other disorders, including slit-like frontal horns, agenesis of the corpus callosum, frontal subcortical heterotopia, arachnoid cysts, and cerebellar dysplasia. © 2016 Wiley Periodicals, Inc. PMID:27312216

  10. ATTENTION FUNCTIONING IN CHILDREN WITH PRENATAL DRUG EXPOSURE.

    PubMed

    Jaeger, Dominique A; Suchan, Boris; Schölmerich, Axel; Schneider, Dominik T; Gawehn, Nina

    2015-01-01

    Children born to drug abusers are exposed to teratogenic influences on intrauterine brain development and undergo postnatal withdrawal. We investigated the interplay of different domains and levels of attention functioning in 24 prenatally exposed and 25 nonexposed children who were 5 to 6 years old. Assessment included parent ratings and neuropsychological and electrophysiological methods. Exposed children had a higher prevalence of attention deficit hyperactivity symptoms, tended to have poorer performance in an attention test battery, and showed EEG alterations in P3 and N2c. Findings suggest long-term effects of prenatal drug exposure on specific domains and on different levels of attention functioning. PMID:26331969

  11. [Sugar consumption and prenatal acceleration. II. Studies on the etiology and pathophysiology of secular prenatal acceleration].

    PubMed

    Ziegler, E

    1976-12-01

    The pathophysiologic considerations support the causal relationship between the secular trend of sugar consumption in industrialized society and the development of prenatal acceleration, which is evident on the basis of epidemiological data. The excessive consumption of sugar and the other quickly absorbed "refined" carbohydrates enhances the hormonogenic effect of food which is also potentiated by the proteins. Together with the caloric overloading, provoked also by the excess in fat, characteristic for the affluent society, the excessive sugar consumption enhances in the pregnant women obesity and "protodiabetes" (PFEIFFER), in the predisposed child the tendency to hyperinsulinism with its consequences. In a prediabetic mother with normal glucose-tolerance the regularly repeated postprandial overfloating of the fetus with maternal glucose changes the feto-maternal hormonal regulation and enhances together with the overloading of substrate, i.e. energy and elements of biosyntheses, the accelerated fetal growth and especially the obesity of the large baby. PMID:1035212

  12. Profiling β Thalassemia Mutations in Consanguinity and Nonconsanguinity for Prenatal Screening and Awareness Programme

    PubMed Central

    Kumar, Ravindra; Arya, Vandana; Agarwal, Sarita

    2015-01-01

    Mutation spectrum varies significantly in different parts and different ethnic groups of India. Social factors such as preference to marry within the community and among 1st degree relatives (consanguinity) play an important role in impeding the gene pool of the disease within the community and so in society by and large. The present paper discusses the role of consanguinity in profiling of beta thalassemia mutation, and thus the approach for prenatal screening and prevention based awareness programme. Clinically diagnosed 516 cases of beta thalassemia were screened at molecular level. A detailed clinical Proforma was recorded with the information of origin of the family, ethnicity, and consanguinity. The present study reports that subjects originating from Uttar Pradesh, Uttarakhand, Bihar, and Jharkhand have c.92+5G>C and c.124_127delTTCT mutation as the commonest mutation compared to the subjects hailing from Madhya Pradesh and Chhattisgarh and Nepal where sickle mutation was found more common. In 40 consanguineous unions more common and specific beta mutations with higher rate of homozygosity have been reported. This consanguinity-based data helps not only in deciding target oriented prenatal diagnostic strategies but also in objective based awareness programmes in prevention of thalassemia major birth. PMID:26576156

  13. [Non invasive prenatal diagnosis. Fetal nucleic acid analysis in maternal blood].

    PubMed

    Sesarini, Carla; Argibay, Pablo; Otaño, Lucas

    2010-01-01

    Current prenatal diagnosis of monogeneic and chromosomal diseases, includes invasive procedures which carry a small but significant risk. For many years, analysis of fetal cells in maternal circulation has been studied, however it has failed its clinical use due to the scarcity of these cells and their persistance after delivery. For more than a decade, the presence of cell-free fetal DNA in maternal blood has been identified. These fetal DNA fragments would derive from the placenta and are not detected after delivery, making them a source of fetal material for carrying out diagnosis techniques using maternal blood. However, the vast majority of cell free DNA in maternal circulation is of maternal origin, with the fetal component contributing from 3% to 6% and rising towards term. Available methodologies do not allow separation of fetal from maternal cell free DNA, so current applications have been focused on the analysis of genes not present in the mother, such as Y chromosome sequences, or RHD gene in RhD-negative women, or paternal or de novo mutations. Also, the detection of cell-free fetal RNA in maternal blood offers the possibility of obtaining information regarding genetic expression profiles of embrionic tissues, and using genes expressed only at the feto-placental unit, controls for the presence of fetal material could be established, regardless of maternal genetic tissue. The present article describes the evidences regarding the passage of fetal nucleic acids to maternal circulation, its current prenatal diagnosis application and possible future perspectives. PMID:21163745

  14. Molecular prenatal diagnosis of autosomal recessive childhood spinal muscular atrophies (SMAs).

    PubMed

    Essawi, Mona L; Al-Attribi, Ghada M; Gaber, Khaled R; El-Harouni, Ashraf A

    2012-11-01

    Autosomal recessive childhood spinal muscular atrophy (SMAs) is the second most common neuromuscular disorder and a common cause of infant disability and mortality. SMA patients are classified into three clinical types based on age of onset, and severity of symptoms. About 94% of patients have homozygous deletion of exon 7 in survival motor neuron (SMN1) gene. The neuronal apoptosis inhibitory protein (NAIP) gene was found to be more frequently deleted in the severest form of the disease. This study aimed to comment on the implementation of genetic counseling and prenatal diagnosis of SMAs for 85 fetuses from 75 Egyptian couples at risk of having an affected child. The homozygous deletion of exon 7 in SMN1 gene and the deletion of exon 5 of the NAIP gene were detected using PCR-REFLP and multiplex PCR methods respectively. Eighteen fetuses showed homozygous deletion of exon 7 in SMN1 gene and deletion of exon 5 in NAIP gene. In conclusion prenatal diagnosis is an important tool for accurate diagnosis and genetic counseling that help decision making in high risk families. PMID:22921322

  15. The North American Fetal Therapy Network Consensus Statement: prenatal management of uncomplicated monochorionic gestations.

    PubMed

    Emery, Stephen P; Bahtiyar, Mert Ozan; Dashe, Jodi S; Wilkins-Haug, Louise E; Johnson, Anthony; Paek, Bettina W; Moon-Grady, Anita J; Skupski, Daniel W; OʼBrien, Barbara M; Harman, Christopher R; Simpson, Lynn L

    2015-05-01

    Owing to vascular connections within a single placenta, monochorionic gestations present distinctive prenatal management challenges. Complications that can arise as a result of unbalanced hemodynamic exchange (twin-twin transfusion syndrome and twin anemia polycythemia sequence) and unequal placental sharing (selective fetal growth restriction) should be kept in mind while prenatal management is being planned. Because of unique monochorionic angioarchitecture, what happens to one twin can directly affect the other. Death of one twin can result in death or permanent disability of the co-twin. Early detection of these unique disease processes through frequent ultrasonographic surveillance may allow the opportunity for earlier referral, intervention, or both and potentially better outcomes. Therefore, monochorionic gestations should be managed differently than dichorionic gestations or singletons. The purpose of this document is to present in detail methods for monitoring and management of uncomplicated monochorionic gestations and to review the evidence for the roles of these methods for detection of complications in clinical practice. Finally, we present evidence-based and expert opinion-supported recommendations developed by the North American Fetal Therapy Network for the diagnosis, surveillance, and delivery of uncomplicated monochorionic gestations. PMID:25932853

  16. Profiling β Thalassemia Mutations in Consanguinity and Nonconsanguinity for Prenatal Screening and Awareness Programme.

    PubMed

    Kumar, Ravindra; Arya, Vandana; Agarwal, Sarita

    2015-01-01

    Mutation spectrum varies significantly in different parts and different ethnic groups of India. Social factors such as preference to marry within the community and among 1st degree relatives (consanguinity) play an important role in impeding the gene pool of the disease within the community and so in society by and large. The present paper discusses the role of consanguinity in profiling of beta thalassemia mutation, and thus the approach for prenatal screening and prevention based awareness programme. Clinically diagnosed 516 cases of beta thalassemia were screened at molecular level. A detailed clinical Proforma was recorded with the information of origin of the family, ethnicity, and consanguinity. The present study reports that subjects originating from Uttar Pradesh, Uttarakhand, Bihar, and Jharkhand have c.92+5G>C and c.124_127delTTCT mutation as the commonest mutation compared to the subjects hailing from Madhya Pradesh and Chhattisgarh and Nepal where sickle mutation was found more common. In 40 consanguineous unions more common and specific beta mutations with higher rate of homozygosity have been reported. This consanguinity-based data helps not only in deciding target oriented prenatal diagnostic strategies but also in objective based awareness programmes in prevention of thalassemia major birth. PMID:26576156

  17. Non-Invasive Prenatal Diagnosis in the Management of Preimplantation Genetic Diagnosis Pregnancies

    PubMed Central

    Bustamante-Aragones †, Ana; Perlado-Marina †, Sara; Trujillo-Tiebas, Maria José; Gallego-Merlo, Jesús; Lorda-Sanchez, Isabel; Rodríguez-Ramirez, Luz; Linares, Concepcion; Hernandez, Corazón; Rodriguez de Alba, Marta

    2014-01-01

    Prenatal diagnosis (PD) is recommended in pregnancies after a Preimplantation Genetic Diagnosis (PGD). However, conventional PD entails a risk of fetal loss which makes PGD patients reluctant to undergo obstetric invasive procedures. The presence of circulating fetal DNA in maternal blood allows performing a non-invasive prenatal diagnosis (NIPD) without risk for the pregnancy outcome. This work shows the introduction of NIPD for confirmation of PGD results in eight pregnancies. In those pregnancies referred to PGD for an X-linked disorder (six out of eight), fetal sex determination in maternal blood was performed to confirm fetal sex. One pregnancy referred to PGD for Marfan syndrome and one referred for Huntington disease (HD) were also analyzed. In seven out of eight cases, PGD results were confirmed by NIPD in maternal blood. No results were obtained in the HD pregnancy. NIPD in PGD pregnancies can be a reliable alternative for couples that after a long process feel reluctant to undergo PD due to the risk of pregnancy loss. PMID:26237485

  18. Enhanced Learning Deficits in Female Rats Following Lifetime Pb Exposure Combined with Prenatal Stress

    PubMed Central

    Cory-Slechta, Deborah A.; Stern, Sander; Weston, Doug; Allen, Joshua L.; Liu, Sue

    2010-01-01

    Pb (lead) exposure and stress are co-occurring risk factors (particularly in low socioeconomic communities) that also act on common biological substrates and produce common adverse outcomes, including cognitive impairments. This study sought to determine whether lifetime Pb exposure combined with prenatal stress would enhance the cognitive deficits independently associated with each of these risk factors and to explore associated mechanisms of any observed impairments. Learning was evaluated using a multiple schedule of repeated learning and performance in female rats subjected to lifetime Pb exposure (0 or 50 ppm Pb in drinking water beginning in dams 2 months prior to breeding; blood Pb levels ∼10 μg/dl), to prenatal restraint stress on gestational days 16 and 17, or to both. Blood Pb, corticosterone levels, brain monoamines, and hippocampal nerve growth factor levels were also measured. Sequence-specific learning deficits produced by Pb, particularly the number of responses to correctly learn response sequences, were further enhanced by stress, whereas performance measures were unimpaired. Statistical analyses indicated significant relationships among corticosterone levels, frontal cortex dopamine (DA), nucleus accumbens dopamine turnover, and total responses required to learn sequences. This study demonstrates that Pb and stress can act together to produce selective and highly condition-dependent deficits in learning in female rats that may be related to glucocorticoid-mediated interactions with mesocorticolimbic regions of brain. These findings also underscore the critical need to evaluate toxicants in the context of other risk factors pertinent to human diseases and disorders. PMID:20639260

  19. Prenatal stress and stress coping style interact to predict metabolic risk in male rats.

    PubMed

    Boersma, Gretha J; Moghadam, Alexander A; Cordner, Zachary A; Tamashiro, Kellie L

    2014-04-01

    Both prenatal stress (PNS) exposure and a passive stress-coping style have been identified as risk factors for insulin resistance in rats. In the current study, we test the hypothesis that PNS and stress-coping style may interact in predicting susceptibility for metabolic disease. To test this hypothesis, adult male control and PNS offspring were behaviorally characterized using a defensive burying test to have either a passive or proactive stress-coping style. In adulthood, all rats were fed either a standard chow or a high-fat diet for 3 weeks. After 3 weeks of diet exposure, glucose and insulin levels were assessed during an oral glucose tolerance test. Under high-fat diet conditions, PNS rats display elevated glucose and insulin responses to the oral glucose tolerance test, indicative of glucose intolerance. Interestingly, these effects of PNS were far more pronounced in rats characterized by a passive stress-coping style. Additionally, the passively coping PNS rats also gained more weight on the high-fat diet than all other rats tested. This observation suggests that a stressful prenatal environment in combination with a passive stress-coping strategy may prime an individual to be sensitive to diet-induced obesity and type 2 diabetes. PMID:24467745

  20. Prenatal Centrifugation: A Mode1 for Fetal Programming of Body Weight?

    NASA Technical Reports Server (NTRS)

    Baer, Lisa A.; Rushing, Linda; Wade, Charles E.; Ronca, April E.

    2005-01-01

    'Fetal programming' is a newly emerging field that is revealing astounding insights into the prenatal origins of adult disease, including metabolic, endocrine, and cardiovascular pathophysiology. In the present study, we tested the hypothesis that rat pups conceived, gestated and born at 2-g have significantly reduced birth weights and increased adult body weights as compared to 1-g controls. Offspring were produced by mating young adult male and female rats that were adapted to 2-g centrifugation. Female rats underwent conception, pregnancy and birth at 2-g. Newborn pups in the 2-g condition were removed from the centrifuge and fostered to non-manipulated, newly parturient dams maintained at 1 -g. Comparisons were made with 1-g stationary controls, also crossfostered at birth. As compared to 1-g controls, birth weights of pups gestated and born at 2-g were significantly reduced. Pup body weights were significantly reduced until Postnatal day (P) 12. Beginning on P63, body weights of 2-g-gestated offspring exceeded those of 1-g controls by 7-10%. Thus, prenatal rearing at 2-g restricts neonatal growth and increases adult body weight. Collectively, these data support the hypothesis that 2-g centrifugation alters the intrauterine milieu, thereby inducing persistent changes in adult phenotype.