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Source: Birth Defects Research Part A: Clinical and Molecular Teratology - March 17, 2016 Category: Perinatology & Neonatology Tags: Cover Image Source Type: research

Limitations, depressive symptoms, and quality of life among a population ‐based sample of young adults with congenital heart defects
ConclusionPhysical health and cognitive abilities of adults with CHD were compromised compared with adults without CHD. Birth Defects Research (Part A) 106:580–586, 2016. © 2016 Wiley Periodicals, Inc. (Source: Birth Defects Research Part A: Clinical and Molecular Teratology)
Source: Birth Defects Research Part A: Clinical and Molecular Teratology - March 16, 2016 Category: Perinatology & Neonatology Authors: Sherry L. Farr, Matthew E. Oster, Regina M. Simeone, Suzanne M. Gilboa, Margaret A. Honein Tags: Research Article Source Type: research

Mechanism of pancreatic and liver malformations in human fetuses with short‐rib polydactyly syndrome
ConclusionIn SRP, there are differentiation defects of hepatocytes, cholangiocytes, and liver mesenchyme and, in rare cases, pancreatic mesenchymal anomalies. The morphological changes were subtle in early gestation but immunophenotypic abnormalities were present. Mesenchymal–epithelial interactions may contribute to the malformations. Birth Defects Research (Part A), 2016. © 2016 Wiley Periodicals, Inc. (Source: Birth Defects Research Part A: Clinical and Molecular Teratology)
Source: Birth Defects Research Part A: Clinical and Molecular Teratology - March 11, 2016 Category: Perinatology & Neonatology Authors: Christine K.C. Loo, Tamara N. Pereira, Mette Ramsing, Ida Vogel, Olav B. Petersen, Grant A. Ramm Tags: Original Research Article Source Type: research

Compound heterozygosity of a paternal submicroscopic deletion and a maternal missense mutation in POR gene: Antley‐bixler syndrome phenotype in three sibling fetuses
ConclusionTo the best of our knowledge, these sibling fetuses add to the few reported cases of ABS, caused by a combination of a SNV and a CNV in the POR gene. The detailed description of the pathologic and radiographic findings of second trimester fetuses affected with ABS adds novel knowledge concerning the early ABS phenotype, in lack of previous relevant reports. Birth Defects Research (Part A), 2016. © 2016 Wiley Periodicals, Inc. (Source: Birth Defects Research Part A: Clinical and Molecular Teratology)
Source: Birth Defects Research Part A: Clinical and Molecular Teratology - March 11, 2016 Category: Perinatology & Neonatology Authors: Maria Tzetis, Anastasia Konstantinidou, Christalena Sofocleous, Konstantina Kosma, Anastasios Mitrakos, Christina Tzannatos, Sofia Kitsiou‐Tzeli Tags: Original Research Article Source Type: research

Systematic procedure for the classification of proven and potential teratogens for use in research
ConclusionUsing reliable references, we established a systematic procedure to the classification of medications with evidence of or potential teratogenic risk. These exhaustive lists will be useful in teratology research and related fields. Birth Defects Research (Part A), 2016. © 2016 Wiley Periodicals, Inc. (Source: Birth Defects Research Part A: Clinical and Molecular Teratology)
Source: Birth Defects Research Part A: Clinical and Molecular Teratology - March 11, 2016 Category: Perinatology & Neonatology Authors: Sherif Eltonsy, Brigitte Martin, Ema Ferreira, Lucie Blais Tags: Original Research Article Source Type: research

Mechanism of pancreatic and liver malformations in human fetuses with short ‐rib polydactyly syndrome
ConclusionIn SRP, there are differentiation defects of hepatocytes, cholangiocytes, and liver mesenchyme and, in rare cases, pancreatic mesenchymal anomalies. The morphological changes were subtle in early gestation but immunophenotypic abnormalities were present. Mesenchymal–epithelial interactions may contribute to the malformations. Birth Defects Research (Part A) 106:549–562, 2016. © 2016 Wiley Periodicals, Inc. (Source: Birth Defects Research Part A: Clinical and Molecular Teratology)
Source: Birth Defects Research Part A: Clinical and Molecular Teratology - March 10, 2016 Category: Perinatology & Neonatology Authors: Christine K.C. Loo, Tamara N. Pereira, Mette Ramsing, Ida Vogel, Olav B. Petersen, Grant A. Ramm Tags: Research Article Source Type: research

Confined blood chimerism in a monochorionic dizygotic sex discordant twin pregnancy conceived after induced ovulation
ConclusionWe report on a case of monochorionic dizygotic twin pregnancy. This observation underlies the need to carefully assess twin pregnancies, especially when obtained after assisted reproductive technology. Birth Defects Research (Part A), 2016. © 2016 Wiley Periodicals, Inc. (Source: Birth Defects Research Part A: Clinical and Molecular Teratology)
Source: Birth Defects Research Part A: Clinical and Molecular Teratology - March 2, 2016 Category: Perinatology & Neonatology Authors: Anne Mayeur Le Bras, François Petit, Alexandra Benachi, Bettina Bedel, Salima Oucherif, Jelena Martinovic, Narjes Armanet, Lucie Tosca, Valérie Gautier, Frédéric Parisot, Philippe Labrune, Gérard Tachdjian, Sophie Brisset Tags: Brief Report Source Type: research

Measuring self‐reported quality of life in 8‐ to 11‐year‐old children born with gastroschisis: Is the KIDSCREEN questionnaire acceptable?
ConclusionThe KIDSCREEN questionnaire has adequate face and content validity as a measure of QoL in children with gastroschisis and is acceptable to both children and parents. Birth Defects Research (Part A), 2016. © 2016 Wiley Periodicals, Inc. (Source: Birth Defects Research Part A: Clinical and Molecular Teratology)
Source: Birth Defects Research Part A: Clinical and Molecular Teratology - March 2, 2016 Category: Perinatology & Neonatology Authors: Judith Rankin, Svetlana V. Glinianaia, Jenni Jardine, Helen McConachie, Heather Borrill, Nicholas D. Embleton Tags: Original Research Article Source Type: research

Prevalence, characteristics, and survival of children with esophageal atresia: A 32‐year population‐based study including 1,417,724 consecutive newborns
ConclusionThis study detected a significant improvement in survival of individuals with EA over the past decades and identified the strongest predictors of mortality. These results will be important for the planning of the clinical management and formulation of prognosis when EA is diagnosed in a newborn. Birth Defects Research (Part A), 2016. © 2016 Wiley Periodicals, Inc. (Source: Birth Defects Research Part A: Clinical and Molecular Teratology)
Source: Birth Defects Research Part A: Clinical and Molecular Teratology - March 2, 2016 Category: Perinatology & Neonatology Authors: Matteo Cassina, Michele Ruol, Riccardo Pertile, Paola Midrio, Silvano Piffer, Virginia Vicenzi, Mario Saugo, Carmen Fiorella Stocco, Piergiorgio Gamba, Maurizio Clementi Tags: Original Research Article Source Type: research

Prevalence, characteristics, and survival of children with esophageal atresia: A 32 ‐year population‐based study including 1,417,724 consecutive newborns
ConclusionThis study detected a significant improvement in survival of individuals with EA over the past decades and identified the strongest predictors of mortality. These results will be important for the planning of the clinical management and formulation of prognosis when EA is diagnosed in a newborn. Birth Defects Research (Part A) 106:542–548, 2016. © 2016 Wiley Periodicals, Inc. (Source: Birth Defects Research Part A: Clinical and Molecular Teratology)
Source: Birth Defects Research Part A: Clinical and Molecular Teratology - March 1, 2016 Category: Perinatology & Neonatology Authors: Matteo Cassina, Michele Ruol, Riccardo Pertile, Paola Midrio, Silvano Piffer, Virginia Vicenzi, Mario Saugo, Carmen Fiorella Stocco, Piergiorgio Gamba, Maurizio Clementi Tags: Research Article Source Type: research

Limitations, depressive symptoms, and quality of life among a population‐based sample of young adults with congenital heart defects
ConclusionPhysical health and cognitive abilities of adults with CHD were compromised compared with adults without CHD. Birth Defects Research (Part A), 2016. © 2016 Wiley Periodicals, Inc. (Source: Birth Defects Research Part A: Clinical and Molecular Teratology)
Source: Birth Defects Research Part A: Clinical and Molecular Teratology - March 1, 2016 Category: Perinatology & Neonatology Authors: Sherry L. Farr, Matthew E. Oster, Regina M. Simeone, Suzanne M. Gilboa, Margaret A. Honein Tags: Original Research Article Source Type: research

Sirenomelia in Argentina: Prevalence, geographic clusters and temporal trends analysis
ConclusionThe observed prevalence was higher than the observed in previous epidemiological studies in other geographic regions. We observed a likely real increase in the initial period of our study. We used strict diagnostic criteria, excluding cases that only had clinical diagnosis of sirenomelia. Therefore, real prevalence could be even higher. This study did not show any geographic clusters. Because etiology of sirenomelia has not yet been established, studies of epidemiological features of this defect may contribute to define its causes. Birth Defects Research (Part A), 2016. © 2016 Wiley Periodicals, Inc. (Source: Bi...
Source: Birth Defects Research Part A: Clinical and Molecular Teratology - February 29, 2016 Category: Perinatology & Neonatology Authors: Boris Groisman, Rosa Liascovich, Juan Antonio Gili, Pablo Barbero, María Paz Bidondo, Tags: Original Research Article Source Type: research

Maternal risk factors involved in specific congenital anomalies of the kidney and urinary tract: A case–control study
CONCLUSIONUse of folic acid only seems to be counterproductive for prevention of CAKUT, in contrast to multivitamin use. Furthermore, we observed differences in risk factor patterns among CAKUT phenotypes, which stress the importance of separate analyses for each phenotype. Birth Defects Research (Part A), 2016. © 2016 Wiley Periodicals, Inc. (Source: Birth Defects Research Part A: Clinical and Molecular Teratology)
Source: Birth Defects Research Part A: Clinical and Molecular Teratology - February 29, 2016 Category: Perinatology & Neonatology Authors: Sander Groen in 't Woud, Kirsten Y. Renkema, Michiel F. Schreuder, Charlotte H.W. Wijers, Loes F.M. van der Zanden, Nine V.A.M. Knoers, Wout F.J. Feitz, Ernie M.H.F. Bongers, Nel Roeleveld, Iris A.L.M. van Rooij Tags: Original Research Article Source Type: research

Red Blood Cell Folate Insufficiency among nonpregnant Women of Childbearing age in Guatemala 2009 to 2010: Prevalence and predicted Neural Tube Defects risk
ConclusionFI remains a common problem in populations with limited access to fortified products, specifically rural, low income, and indigenous populations. However, among subpopulations that are most likely to have fortified food, the prevalence of FI is similar to countries with well‐established fortification programs. Birth Defects Research (Part A), 2016. © 2016 Wiley Periodicals, Inc. (Source: Birth Defects Research Part A: Clinical and Molecular Teratology)
Source: Birth Defects Research Part A: Clinical and Molecular Teratology - February 29, 2016 Category: Perinatology & Neonatology Authors: Jorge Rosenthal, Mary‐Elizabeth Reeve, Nicte Ramirez, Krista S. Crider, Joe Sniezek, Claudia Vellozzi, Owen Devine, Eunice Lopez‐Pazos Tags: Original Research Article Source Type: research

Analysis of polymorphisms of genes associated with folate‐mediated one‐carbon metabolism and neural tube defects in Chinese Han Population
ConclusionThe SNPs rs2797840 and rs2073817 in SARDH may serve as an indicator for the occurrence of NTDs in the Chinese Han population, and rs2797840 may also be an indicator for folate content of brain. Birth Defects Research (Part A), 2016. © 2016 Wiley Periodicals, Inc. (Source: Birth Defects Research Part A: Clinical and Molecular Teratology)
Source: Birth Defects Research Part A: Clinical and Molecular Teratology - February 29, 2016 Category: Perinatology & Neonatology Authors: Wei Piao, Jin Guo, Yihua Bao, Fang Wang, Ting Zhang, Junsheng Huo, Kunlin Zhang Tags: Original Research Article Source Type: research