Birth defects research. Part A, Clinical and molecular teratology最新文献

{"title":"Congenital anomalies of the kidney and the urinary tract: A murmansk county birth registry study","authors":"Vitaly A. Postoev,&nbsp;Andrej M. Grjibovski,&nbsp;Anton A. Kovalenko,&nbsp;Erik Eik Anda,&nbsp;Evert Nieboer,&nbsp;Jon Øyvind Odland","doi":"10.1002/bdra.23475","DOIUrl":"10.1002/bdra.23475","url":null,"abstract":"<div>\u0000 \u0000 <section>\u0000 \u0000 <h3> BACKGROUND</h3>\u0000 \u0000 <p>Congenital anomalies of the kidney and the urinary tract (CAKUTs) are relatively common birth defects. The combined prevalence in Europe was 3.3 per 1000 in 2012. The risk factors for these anomalies are not clearly identified. The aims of our study were to calculate the birth prevalences of urinary malformations in Murmansk County during 2006 to 2011 and to investigate related prenatal risk factors.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> METHODS</h3>\u0000 \u0000 <p>The Murmansk County Birth Registry was the primary source of information and our study included 50,936 singletons in the examination of structure, prevalence and proportional distribution of CAKUTs. The multivariate analyses of risk factors involved 39,322 newborns.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> RESULTS</h3>\u0000 \u0000 <p>The prevalence of CAKUTs was 4.0 per 1000 newborns (95% confidence interval [CI], 3.4–4.5) and did not change during the study period. The most prevalent malformation was congenital hydronephrosis (14.2% of all cases). Diabetes mellitus or gestational diabetes (odds ratio [OR] = 4.77; 95% CI, 1.16–19.65), acute infections while pregnant (OR = 1.83; 95% CI, 1.14–2.94), the use of medication during pregnancy (OR = 2.03; 95% CI, 1.44–2.82), and conception during the summer (OR = 1.75; 95% CI 1.15–2.66) were significantly associated with higher risk of CAKUTs.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> CONCLUSION</h3>\u0000 \u0000 <p>The overall fourfold enhancement of the occurrence of urinary malformations in Murmansk County for the 2006 to 2011 period showed little annual dependence. During pregnancy, use of medications, infections, pre-existing diabetes mellitus, or gestational diabetes were associated with increased risk of these anomalies, as was conception during summer. Our findings have direct applications in improving prenatal care in Murmansk County and establishing targets for prenatal screening and women's consultations. Birth Defects Research (Part A) 106:185–193, 2016. © 2016 Wiley Periodicals, Inc.</p>\u0000 </section>\u0000 </div>","PeriodicalId":8983,"journal":{"name":"Birth defects research. Part A, Clinical and molecular teratology","volume":"106 3","pages":"185-193"},"PeriodicalIF":0.0,"publicationDate":"2016-02-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1002/bdra.23475","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"74648817","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Replication analysis of 15 susceptibility loci for nonsyndromic cleft lip with or without cleft palate in an italian population.","authors":"F. Cura, A. Böhmer, J. Klamt, Hannah Schünke, L. Scapoli, M. Martinelli, F. Carinci, M. Nöthen, M. Knapp, K. Ludwig, E. Mangold","doi":"10.1002/bdra.23454","DOIUrl":"https://doi.org/10.1002/bdra.23454","url":null,"abstract":"BACKGROUND\u0000Nonsyndromic cleft lip with or without cleft palate (nsCL/P) is one of the most common congenital malformations in humans. Its average global incidence is 1.7 per 1000 live births, with wide variation according to geographical location and ethnicity. Its etiology involves both genetic and environmental factors. The aim of the present study was to confirm genetic association of a selection of 15 candidate nsCL/P loci using an independent sample of the Italian population.\u0000\u0000\u0000METHODS\u0000At least one single-nucleotide polymorphism (SNP) for each locus was genotyped in 380 nuclear trios.\u0000\u0000\u0000RESULTS\u0000Transmission disequilibrium analysis revealed significant associations for three variants at two loci (8q24 and 1p22). Two SNPs at 8q24 showed the strongest level of association, the rs987525 (PTDT  = 6.81 × 10(-6) ; homozygous relative risk = 3.60 [95% confidence interval, 2.12-6.13]), and the rs17241253 (PTDT  = 1.03 × 10(-5) ; homozygous relative risk = 3.75 [95% confidence interval, 2.10-6.67]). Four additional loci (at 1q32, 3q12, 8q21, and 10q25) achieved nominally significant p-values. Two SNPs at 1p36 achieved p-values of < 0.1. The present data suggest that 6 of the 15 analyzed nsCL/P risk loci contribute significantly to nsCL/P risk in the Italian population. These include the 1p22 locus, which previous research has implicated predominantly in Asian populations.\u0000\u0000\u0000CONCLUSION\u0000Different loci, including 8q24 and 1p22 have been found associated with nsCL/P in multiple populations. Further efforts are needed to identify causative variants and transfer knowledge to clinical application, such as personal genetic risk assessment.","PeriodicalId":8983,"journal":{"name":"Birth defects research. Part A, Clinical and molecular teratology","volume":"65 1","pages":"81-7"},"PeriodicalIF":0.0,"publicationDate":"2016-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"82384903","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Epidemiologic characteristics and time trend in the prevalence of anotia and microtia in China.","authors":"Kui Deng, L. Dai, Ling Yi, Changfei Deng, Xiaohong Li, Jun Zhu","doi":"10.1002/bdra.23462","DOIUrl":"https://doi.org/10.1002/bdra.23462","url":null,"abstract":"BACKGROUND\u0000Previous studies have shown an inconsistent time trend on the prevalence of anotia and microtia. Little has been reported on the epidemiologic characteristics of anotia and microtia in the Chinese population.\u0000\u0000\u0000METHODS\u0000Data from 1996-2007 were obtained from the Chinese Birth Defects Monitoring Network in China. Birth prevalence of anotia and microtia were assessed according to demographic characteristics and annual time trend. Poisson regression was used to calculate crude and adjusted prevalence ratios (APRs) and 95% confidence intervals (CIs) for selected demographic characteristics and subgroups of anotia and microtia.\u0000\u0000\u0000RESULTS\u0000A total of 1933 cases with anotia/microtia were identified among 6,308,594 live births, stillbirths, and terminations of pregnancy, yielding a rate of 3.06 per 10,000 births. Isolated anotia/microtia had a prevalence of 2.25 per 10,000 births, whereas among nonisolated cases, the prevalence was 0.81 per 10,000 births. The prevalence rates of anotia/microtia increased significantly during 1996-2007 (p < 0.05). Birth prevalence of isolated anotia/microtia was significantly higher among western births (APR, 1.24; 95% CI, 1.10-1.40), mothers residing in urban areas (APR, 1.29; 95% CI, 1.15-1.46), mothers more than 35 years of age (APR, 1.26; 95% CI, 1.01-1.57), and males (APR, 1.38; 95% CI, 1.24-1.53). No significant associations were observed between nonisolated anotia/microtia and geographic areas, maternal residence, and infant sex (except for maternal age).\u0000\u0000\u0000CONCLUSION\u0000An increasing trend of the birth prevalence of anotia and microtia is observed in China. Higher prevalence risk of isolated anotia and microtia is found among western births, mothers residing in urban areas, older mothers, and males.","PeriodicalId":8983,"journal":{"name":"Birth defects research. Part A, Clinical and molecular teratology","volume":"25 1","pages":"88-94"},"PeriodicalIF":0.0,"publicationDate":"2016-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"73477160","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Hypothesis acardiac twin pregnancies: Pathophysiology-based hypotheses suggest risk prediction by pump/acardiac umbilical venous diameter ratios.","authors":"M. V. van Gemert, L. Pistorius, K. Benirschke, G. Bonsel, F. Vandenbussche, K. Paarlberg, J. V. D. van den Wijngaard, P. Nikkels","doi":"10.1002/bdra.23467","DOIUrl":"https://doi.org/10.1002/bdra.23467","url":null,"abstract":"BACKGROUND\u0000A total of 75% of monozygotic twins share 1 monochorionic placenta where placental anastomoses cause several serious complications, for example, acardiac twinning. Acardiac twins lack cardiac function but grow by perfusion of arterial blood from the pump twin. This rare pregnancy has 50% natural pump twin mortality but accurate risk prediction is currently impossible. Recent guidelines suggest prophylactic surgery before 18 weeks, suggesting 50% unnecessary interventions. We hypothesize that (1) adverse pump twin outcome relates to easy-to-measure pump/acardiac umbilical venous diameter (UVD) ratios, representing acardiac perfusion by the pump's excess cardiac output. This hypothesis suggests that (2) UVD-ratios are large, mildly varying in cases without complications but small and decreasing when complications develop, thus predicting that (3) UVD-ratios may allow risk prediction of pump twins. In this exploratory clinical pilot, we tested whether UVD-ratio measurements support these predictions.\u0000\u0000\u0000METHODS\u0000We included 7 uncomplicated (expectant management), 3 elective surgical, and 17 complicated cases (pump decompensation, emergency intervention/delivery or demise). Nine UVD-ratios were measured sonographycally and 18 by pathology.\u0000\u0000\u0000RESULTS\u0000Uncomplicated cases have larger, two serial measurements showing mildly varying UVD-ratios; elective surgical cases show larger UVD-ratios; complicated cases have smaller, two serial measurements showing decreasing UVD-ratios. There were no false-positives, no false-negatives and noncrossing linear trendlines of uncomplicated and complicated cohorts.\u0000\u0000\u0000CONCLUSION\u0000Our data provide first evidence that UVD-ratios allow risk prediction of pump twins. More early uncomplicated and late complicated cases are needed, for example, in a prospective trial, before the separation between uncomplicated and complicated cohorts is accurate enough to support a well-founded decision on (early) intervention.","PeriodicalId":8983,"journal":{"name":"Birth defects research. Part A, Clinical and molecular teratology","volume":"75 1","pages":"114-21"},"PeriodicalIF":0.0,"publicationDate":"2016-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"83784144","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Association between maternal aluminum exposure and the risk of congenital heart defects in offspring.","authors":"Zhen Liu, Yuan Lin, Xiao-Xian Tian, Jun Li, Xinlin Chen, Jiaxiang Yang, Xiaohong Li, Ying Deng, Nana Li, Juan Liang, Sheng-li Li, Jun Zhu","doi":"10.1002/bdra.23464","DOIUrl":"https://doi.org/10.1002/bdra.23464","url":null,"abstract":"BACKGROUND\u0000Aluminum (Al) is the third most common element in the earth' s crust and has been reported to be teratogenic. However, there is lack of understanding about the association between maternal aluminum exposure and the risks of birth defects such as congenital heart defects (CHDs).\u0000\u0000\u0000METHODS\u0000A multi-center, hospital-based case-control study was performed at four maternal and child tertiary hospitals in China. A total of 223 cases with CHDs and 223 controls without any abnormalities were recruited according to the inclusion and matching criteria. Hair samples were prepared and measured by inductively coupled plasma mass spectrometry (ICP-MS). The correlation between CHDs and maternal aluminum concentrations was estimated by a 1:1 conditional logistic regression.\u0000\u0000\u0000RESULTS\u0000The geometric mean and median of hair aluminum levels in isolated or multiple CHD cases was significantly higher than in controls (p < 0.05). A significant association was found between increased hair aluminum concentrations and the risk of total CHDs in offspring (adjusted odds ration [aOR], 2.32; 95% confidence interval [CI], 1.72-3.13), especially in some subtypes of CHDs, such as septal defects (aOR, 2.17; 95% CI, 1.15-4.10), conotruncal defects (aOR, 5.42; 95%CI, 2.43-12.10), and right ventricular outflow track obstruction (aOR, 2.43; 95% CI, 1.08-5.44). However, there was no statistically significant association with left ventricular outflow track obstruction (aOR, 1.66; 95% CI, 0.95-2.88).\u0000\u0000\u0000CONCLUSION\u0000A high maternal aluminum concentration may significantly increase the risk of delivering a child with a CHD, such as a septal defect, conotruncal heart defect and right-side obstruction.","PeriodicalId":8983,"journal":{"name":"Birth defects research. Part A, Clinical and molecular teratology","volume":"66 1","pages":"95-103"},"PeriodicalIF":0.0,"publicationDate":"2016-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"85798985","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"High doses of alcohol during pregnancy cause DNA damages in osteoblasts of newborns rats.","authors":"I. C. S. Carvalho, T. P. Dutra, Dennia Perez de Andrade, I. Balducci, C. Pacheco-Soares, R. F. Rocha","doi":"10.1002/bdra.23468","DOIUrl":"https://doi.org/10.1002/bdra.23468","url":null,"abstract":"BACKGROUND\u0000Alcohol exerts teratogenic effects and its consumption during pregnancy can cause deficit of bone development. The aim of the current study was to evaluate the genotoxic effects of prenatal exposure to ethanol on newborn rat osteoblasts.\u0000\u0000\u0000METHODS\u0000Wistar rats were initially divided into two groups: Ethanol group which received Ethanol 20% V/V in liquid diet and solid diet ad libitum, and Control group, which received solid diet and water ad libitum. Each group received a specific diet for 8 weeks before breeding and throughout three weeks of gestation and the treatment was finished on the day the pups were killed. On the fifth day of life, the pups from each group were killed for removal of the calvaria and isolation of osteogenic cells by sequential enzymatic digestion. The cells were cultured for a maximum period of 14 days. The detection of genotoxic effects of alcohol was investigated by the comet and the micronucleus assay.\u0000\u0000\u0000RESULTS\u0000Micronucleus and comet assay showed significant increases in DNA damage at 7 days in Ethanol group (p = 0.0302, p = 0.0446, respectively). However, at 14 days both assay showed no significant difference between the groups (p = 0.6194, p = 0.8326, respectively).\u0000\u0000\u0000CONCLUSION\u0000Our results showed that prenatal exposure to ethanol induced DNA damage in osteoblasts, as shown by micronucleus formation and higher percentage of DNA in the comet tail. It can be concluded that prenatal exposure to ethanol damages osteoblast DNA in newborns exposed to high doses of ethanol during pregnancy, suggesting that prenatal ethanol consumption has a direct effect on fetal osteoblasts.","PeriodicalId":8983,"journal":{"name":"Birth defects research. Part A, Clinical and molecular teratology","volume":"121 1","pages":"122-32"},"PeriodicalIF":0.0,"publicationDate":"2016-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"76780259","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Parental risk factors of anorectal malformations: Analysis with a regional population-based control group.","authors":"N. Zwink, A. Rissmann, S. Pötzsch, H. Reutter, E. Jenetzky","doi":"10.1002/bdra.23469","DOIUrl":"https://doi.org/10.1002/bdra.23469","url":null,"abstract":"BACKGROUND\u0000Adequate evidence on environmental risk factors for anorectal malformations (ARMs) is very limited. We assessed maternal body weight and several prenatal exposures of the parents to tobacco, pregestational diabetes, chronic cardiovascular and respiratory diseases, periconceptional folic acid and multivitamin intake.\u0000\u0000\u0000METHODS\u0000Data from the German Network for Congenital Uro-REctal malformations (CURE-Net) were compared with data from the Malformation Monitoring Centre Saxony-Anhalt of the Otto-von-Guericke University in Magdeburg, Germany. Controls were matched to cases by gender and birth year of the child. Crude and adjusted odds ratios (95% confidence intervals) were calculated for potential risk factors using multivariable logistic regression.\u0000\u0000\u0000RESULTS\u0000In total, 158 ARM patients and 474 healthy infants born between 1993 and 2008 in Germany were included. Maternal age at birth of ARM cases and birth plurality were significantly higher and gestational age and weight significantly lower compared with controls (p < 0.0001). We observed significantly increased risks for ARMs associated with maternal smoking before conception and the first trimester of pregnancy (odds ratio = 2.23, 95% confidence interval 1.04-4.79, p = 0.039) and maternal chronic respiratory diseases (odds ratio = 29.25, 95% confidence interval 8.22-104.14, p < 0.0001). No statistically significant increased risk or protective effect was found for the other investigated factors.\u0000\u0000\u0000CONCLUSION\u0000This study suggests an association between the occurrence of ARMs in the offspring and periconceptional maternal smoking as well as maternal chronic respiratory diseases. In addition, there might be a sign of an association for maternal diabetes, although not statistically significant. It can be assumed that the power is far too low to provide reliable estimates.","PeriodicalId":8983,"journal":{"name":"Birth defects research. Part A, Clinical and molecular teratology","volume":"106 2 1","pages":"133-41"},"PeriodicalIF":0.0,"publicationDate":"2016-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"82426056","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Cell death and cell proliferation in human spina bifida.","authors":"L. Avagliano, P. Doi, D. Tosi, V. Scagliotti, Angelica Gualtieri, C. Gaston-Massuet, A. Pistocchi, A. Gallina, A. Marconi, G. Bulfamante, V. Massa","doi":"10.1002/bdra.23466","DOIUrl":"https://doi.org/10.1002/bdra.23466","url":null,"abstract":"BACKGROUND\u0000Spina bifida is a multifactorial congenital malformation of the central nervous system. The aim of this study was to ascertain the relevance of cell death/proliferation balance in human spina bifida and to assess autophagy distribution and levels during embryo-fetal development in neural tissue.\u0000\u0000\u0000METHODS\u0000Five human cases with myelomeningocoele were compared with 10 healthy human controls and LC3 protein expression was also analyzed in mouse embryos. Cell death was evaluated using TUNEL (terminal deoxynucleotidyl transferase-mediated deoxyuridinetriphosphate nick end-labeling) assay; cell proliferation was studied by counting Ki67-positive cells, and autophagy was assessed by observing the presence of LC3 punctuate dots.\u0000\u0000\u0000RESULTS\u0000Comparing human cases and controls (13 to 21 weeks of gestation), we observed a significant increase in TUNEL-positive cells in human spina bifida associated with a significantly decreased proliferation rate, indicating an alteration of the physiological cell rate homeostasis. LC3 distribution was found to be spatiotemporally regulated in both human and murine embryo-fetuses: in early pregnancy a diffuse and ubiquitous LC3 signal was detected. After neural tube closure, an intense LC3-positive signal, normally associated to extra energy requirement, was confined to the Lissauer's tract, the dorsolateral spinal zone containing centrally projecting axons from dorsal root ganglia, at any medullar levels. LC3 signal disappeared from 12 weeks of gestation.\u0000\u0000\u0000CONCLUSION\u0000In conclusion, this study confirms the fundamental role of cell death/proliferation balance during central nervous system development and reports the changing expression of LC3 protein in mouse and human neural tube. Birth Defects Research (Part A) 106:104-113, 2016. © 2015 Wiley Periodicals, Inc.","PeriodicalId":8983,"journal":{"name":"Birth defects research. Part A, Clinical and molecular teratology","volume":"36 1","pages":"104-13"},"PeriodicalIF":0.0,"publicationDate":"2016-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"78448072","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"BDRA Reviewer Thank You 2015","authors":"","doi":"10.1002/bdra.23482","DOIUrl":"https://doi.org/10.1002/bdra.23482","url":null,"abstract":"<p>As another year has come to a close we would like to thank everybody who has contributed his or her time and effort to the Journal over the course of the past year. I would especially like to acknowledge and thank all of the people who donated their valuable time to reviewing manuscripts in 2015. It is on all of you whom the quality of Birth Defects Research Part A depends. We look forward to an even more successful 2016!</p><p>Thank you,</p><p>Michel Vekemans, Editor-in-Chief</p><p>Christina Chambers, Deputy Editor</p><p><b><i>Guest Editors:</i></b> Russell S. Kirby, Marilyn L. Browne, Margaret Honein, Sonia Hernandez-Diaz, and Jennita Reefhuis</p><p><b><i>Associate Editors:</i></b> Simon J. Conway, Denis Duboule, Richard H. Finnell, Jan M. Friedman, Robert Greene, Edward Lammer, Laura E. Mitchell, Sonja A. Rasmussen, Gary M. Shaw</p><p><b><i>Wiley BDRA Editorial Office:</i></b> Allyn Molina, Mark Paalman, Ricci Dipshan, and Pat Gibason</p><p>Jan Aalberts</p><p>Barbara Abbott</p><p>Alice Abdel-Aleem</p><p>A.J. Agopian</p><p>Shawn Ahlfeld</p><p>Silvana Allodi</p><p>B Alter</p><p>M Alves</p><p>Sura Alwan</p><p>Jeanne amiel</p><p>Marlene Anderka</p><p>Jon Andersen</p><p>Monica Andersen</p><p>Robert H. Anderson</p><p>Susan Andrade</p><p>Mg Andreassi</p><p>Elizabeth Andrews</p><p>Dean Appling</p><p>Birgit Arabin</p><p>Tânia Araujo</p><p>Natalie Archer</p><p>Eric Arnaud</p><p>Mine Arslan-Kirchner</p><p>Annelise Arth</p><p>Allison Ashley-Koch</p><p>Tania Attie-Bitach</p><p>Kit Sing Au</p><p>Mohamad Azhar</p><p>Yana Bai</p><p>Lynn Bailey</p><p>Ludmila Bakhireva</p><p>MK Bakker</p><p>B Ballew</p><p>Simon Bamforth</p><p>SK Banerjee</p><p>Denise Barlow</p><p>Rob Barto</p><p>Subit Barua</p><p>Olga Basso</p><p>Alexander Bassuk</p><p>Brian Bateman</p><p>Geneviève Baujat</p><p>Terri Beaty</p><p>Danielle Belgrave</p><p>Karen Bell</p><p>José A. Belo Belo</p><p>Nadia Ben jamaa</p><p>Eyal Bengal</p><p>Kurt Benirschke</p><p>Gregory Bennett</p><p>Anick Bérard</p><p>R J Berry</p><p>Robert Berry</p><p>Puneet Bhatla</p><p>Diana Bianchi</p><p>Bryan Bjork</p><p>Jacques Blacher</p><p>Lucie Blais</p><p>Susan Blanton</p><p>Henk Blom</p><p>Olaf Bodamer</p><p>Lisa Bodnar</p><p>Annick Bogaerts</p><p>Catherine Boileau</p><p>Renata Bortolus</p><p>Lorenzo Botto</p><p>Carol Bower</p><p>Al Boyles</p><p>Stephen Braddock</p><p>Jean D. Brender</p><p>Carrie Breton</p><p>Rachel Brewster</p><p>Guy Brock</p><p>Neil Brockdorff</p><p>Lawrence Brody</p><p>Ruben Bronberg</p><p>Marianne Bronner</p><p>Austin Brown</p><p>Marilyn Browne</p><p>Susan Buchanan</p><p>Juan Bueren</p><p>Stephen Bujarski,</p><p>Janice Byrne</p><p>Robert Cabrera</p><p>Jonathan callaway</p><p>P Candito</p><p>Mark Canfield</p><p>Valeria Capra</p><p>John Carey</p><p>Suzan Carmichael</p><p>Tonia Carter</p><p>Jillian Casey</p><p>Kristin Caspers Conway</p><p>Eduardo Castilla</p><p>M Castori</p><p>Marie cedergren</p><p>Sonia chaabane</p><p>Yang Chai</p><p>Christina Chambers</p><p>Daphne Chan</p><p>Abalo Chango</p><p>Karen Ch","PeriodicalId":8983,"journal":{"name":"Birth defects research. Part A, Clinical and molecular teratology","volume":"106 1","pages":"69-73"},"PeriodicalIF":0.0,"publicationDate":"2016-01-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1002/bdra.23482","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"91800483","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clinical, genetic and neuropathological findings in a series of 138 fetuses with a corpus callosum malformation.","authors":"C. Alby, V. Malan, Lucile Boutaud, M. Marangoni, B. Bessières, M. Bonnière, A. Ichkou, Nadia Elkhartoufi, N. Bahi-Buisson, P. Sonigo, A. Millischer, Sophie Thomas, Y. Ville, M. Vekemans, F. Encha-Razavi, T. Attié-Bitach","doi":"10.1002/bdra.23472","DOIUrl":"https://doi.org/10.1002/bdra.23472","url":null,"abstract":"BACKGROUND Corpus callosum malformation (CCM) is the most frequent brain malformation observed at birth. Because CCM is a highly heterogeneous condition, the prognosis of fetuses diagnosed prenatally remains uncertain, making prenatal counseling difficult. METHODS AND RESULTS We evaluated retrospectively a total of 138 fetuses, 117 with CCM observed on prenatal imaging examination, and 21 after postmortem autopsy. On ultrasound and/or magnetic resonance imaging, CCM was either isolated (N = 40) or associated with other neurological (N = 57) or extra cerebral findings (N = 21/20, respectively). RESULTS Most fetuses (N = 132) remained without a diagnosis at the time of pregnancy termination. This emphasizes the need to establish a neuropathological classification and to perform a genomic screening using comparative genomic hybridization. A neuropathological examination performed on 138 cases revealed a spectrum of CCMs, classified as follows: agenesis of corpus callosum (55), CC hypoplasia (30), CC dysmorphism (24), and CCM associated with a malformation of cortical development (29). Of interest, after fetopathological examination, only 16/40 malformations were classified as isolated, highlighting the importance of the autopsy following termination of pregnancy. Among the 138 cases, the underlying etiology was found in 46 cases: diabetes (one case), cytomegalovirus infection (one case), 23 chromosome abnormalities, and 21 mendelian conditions. CONCLUSION In our series of 138 cases of CCM, prenatal and postmortem examinations identified a variety of genetic causes. However, no diagnosis could be established in 67% of cases. The classification based on the underlying neurodevelopmental defects paves the way for further genetic studies and genotype-phenotype correlations.","PeriodicalId":8983,"journal":{"name":"Birth defects research. Part A, Clinical and molecular teratology","volume":"1 1","pages":"36-46"},"PeriodicalIF":0.0,"publicationDate":"2016-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"89755801","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}