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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

    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

  3. 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

  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 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 ...

  14. 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 ...

  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. 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 ...

  19. 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

  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. 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)

  6. 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 ...

  7. 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 ...

  8. 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 ...

  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. 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…

  3. 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…

  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. 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.

  7. 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

  8. 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

  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. 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

  17. 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

  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. 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.

  1. 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

  2. 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

  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

    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

  6. 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

  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. 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

  10. 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

  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 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

  16. 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

  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. 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

  19. 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

  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. 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

  4. 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

  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. 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

  9. 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

  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. 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.…

  15. Conceptions of Prenatal Development: Behavioral Embryology

    ERIC Educational Resources Information Center

    Gottlieb, Gilbert

    1976-01-01

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

  16. Prenatal 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

  17. 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

  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. 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

  20. 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

  1. 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.

  2. 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

  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. 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

  7. [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

  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. 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 ...

  2. 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

  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 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

  10. 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