Novel COL4A1 mutation in an infant with severe dysmorphic syndrome with schizencephaly, periventricular calcifications, and cataract resembling congenital infection
ConclusionWe suggest that COL4A1 testing should be considered in patients with schizencephaly as well as with phenotype suggesting TORCH infection without any proven etiological factors. 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 16, 2016 Category: Perinatology & Neonatology Authors: Robert Smigiel, Magdalena Cabala, Aleksandra Jakubiak, Hirofumi Kodera, Marek J. Sasiadek, Naomichi Matsumoto, Maria M. Sasiadek, Hirotomo Saitsu Tags: Brief Report Source Type: research

Interaction between MTHFR 677C>T and periconceptional folic acid supplementation in the risk of Hypospadias
ConclusionOur study does not suggest a major role for folic acid supplements or the MTHFR C677T polymorphism in the etiology of hypospadias in general, but not using folic acid and/or carrying the MTHFR C677T polymorphism may be associated with middle and posterior hypospadias. Therefore, we stress the importance of studying gene–environment interactions preferably in stratified analyses for different hypospadias phenotypes. 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 16, 2016 Category: Perinatology & Neonatology Authors: Elisabeth M.J. Dokter, Iris A.L.M. van Rooij, Charlotte H.W. Wijers, Johanne M. Groothuismink, Jan Jaap van der Biezen, Wout F.J. Feitz, Nel Roeleveld, Loes F.M. van der Zanden Tags: Original Research Article Source Type: research

Issue Information
(Source: Birth Defects Research Part A: Clinical and Molecular Teratology)
Source: Birth Defects Research Part A: Clinical and Molecular Teratology - February 15, 2016 Category: Perinatology & Neonatology Tags: Issue Information Source Type: research

Cover Image
(Source: Birth Defects Research Part A: Clinical and Molecular Teratology)
Source: Birth Defects Research Part A: Clinical and Molecular Teratology - February 15, 2016 Category: Perinatology & Neonatology Tags: Cover Image Source Type: research

When the right (Drug) should be left: Prenatal drug exposure and heterotaxy syndrome
ConclusionThis study identified follitropin‐alfa and drugs used in nicotine dependence as possible teratogens of heterotaxy syndrome. Our data suggest the possibility that there is an increased risk of birth defects (including renal, urological, and cardiac abnormalities) in children born among mothers taking PTU prenatally, but not for heterotaxy syndrome. 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 1, 2016 Category: Perinatology & Neonatology Authors: Nicole R. van Veenendaal, Cynthia D.J. Kusters, Roelof‐Jan Oostra, Jorieke E.H. Bergman, Jan‐Maarten Cobben Tags: Original Research Article Source Type: research

Maternal residential exposure to agricultural pesticides and birth defects in a 2003 to 2005 North Carolina birth cohort
ConclusionOur results provide some evidence of associations between residential exposure to agricultural pesticides and several birth defects phenotypes. 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 1, 2016 Category: Perinatology & Neonatology Authors: Kristen M. Rappazzo, Joshua L. Warren, Robert E. Meyer, Amy H. Herring, Alison P. Sanders, Naomi C. Brownstein, Thomas J. Luben Tags: Original Research Source Type: research

Childhood cancer in children with congenital anomalies in Oklahoma, 1997 to 2009
ConclusionOur results were consistent with previous studies indicating an increased rate of childhood cancer among children with anomalies at younger ages. Furthermore, our study added a methodological refinement of assessing the effect of anomalies as a function of attained age. 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 1, 2016 Category: Perinatology & Neonatology Authors: Amanda E. Janitz, Barbara R. Neas, Janis E. Campbell, Anne E. Pate, Julie A. Stoner, Sheryl L. Magzamen, Jennifer D. Peck Tags: Research Article Source Type: research

Nasoethmoidal meningocele in a child presenting bilateral congenital cystic adenomatoid malformation: Evidence for a new entity or consequence of gestational exposures?
ConclusionTo our knowledge, there is only one case reported in the literature showing the same association between a nasoethmoidal meningocele and CCAM. Thus, the malformations observed in our patient may be related to the gestational exposures. Also, we cannot rule out that the patient may present the same condition characterized by a cephalocele and CCAM described by some authors, or even an undescribed entity, because some hallmark features, such as laryngeal atresia and limb defects, were not observed in our case. Further reports will be very important to better understand the associations described in our study. Birth...
Source: Birth Defects Research Part A: Clinical and Molecular Teratology - February 1, 2016 Category: Perinatology & Neonatology Authors: Ernani B. da Rosa, Daniélle B. Silveira, Laís G. Tsugami, Nathan L. Bellé, Izabelle O. Matos, Luciano V. Targa, Rosilene da S. Betat, André C. da Cunha, Rolando A.R. Villacis, Sílvia R. Rogatto, Luiza E. Dorfman, Rafael F. M. Rosa, Paulo R.G. Zen Tags: Research Article Source Type: research

Autoantibodies against homocysteinylated protein in a mouse model of folate deficiency‐induced neural tube defects
ConclusionThese data support the hypotheses that homocysteinylation results in neo‐self antigen formation under conditions of maternal folate deficiency, and that this process is reversible with folic acid supplementation. 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 1, 2016 Category: Perinatology & Neonatology Authors: Kerina J. Denny, Christina F. Kelly, Vinod Kumar, Katey L. Witham, Robert M. Cabrera, Richard H. Finnell, Stephen M. Taylor, Angela Jeanes, Trent M. Woodruff Tags: Original Research Article Source Type: research

Descriptive analysis of high birth prevalence rate geographical clusters of congenital anomalies in South America
ConclusionThe recognition of clusters could be a starting point in the identification of susceptibility genes associated with the occurrence of CA in high BPR regions. 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 1, 2016 Category: Perinatology & Neonatology Authors: Juan Antonio Gili, Fernando Adrián Poletta, Lucas Gabriel Giménez, Mariela Soledad Pawluk, Hebe Campaña, Eduardo Enrique Castilla, Jorge Santiago López‐Camelo Tags: Original Research Article Source Type: research

Prevalence and trend of neural tube defects in five counties in Shanxi province of Northern China, 2000 to 2014
CONCLUSIONThe prevalence of NTDs remains high despite a substantial and continuous decrease over the past 15 years. To further reduce NTD risk in the population, fortification staples with folic acid should be considered. 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 1, 2016 Category: Perinatology & Neonatology Authors: Jufen Liu, Le Zhang, Zhiwen Li, Lei Jin, Yali Zhang, Rongwei Ye, Jianmeng Liu, Aiguo Ren Tags: Original Research Article Source Type: research

Gastroschisis in a fetus with a congenital neuroblastoma: Association or coincidence?
ConclusionWe cannot rule out the possibility that a clotting defect, commonly observed in disseminated malignancies such as a metastatic neuroblastoma may be associated with the etiology of the gastroschisis, as this defect may result from a thrombosis occurring around 3 to 4 weeks of gestation, a period when neuroblasts development occurs into the adrenal medulla. However, we cannot exclude the possibility that both events may have occurred simultaneously by chance. 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 1, 2016 Category: Perinatology & Neonatology Authors: Rafael F.M. Rosa, Laura Michelon, Átila Masiero, Adyr E.V. Faria, Vanessa F. De Souza, Cristine Dietrich, Luciano V. Targa, Valentina O. Provenzi, Silvana R.S. Pires, Paulo R.G. Zen Tags: Research Article Source Type: research

Issue Information
(Source: Birth Defects Research Part A: Clinical and Molecular Teratology)
Source: Birth Defects Research Part A: Clinical and Molecular Teratology - January 18, 2016 Category: Perinatology & Neonatology Tags: Issue Information Source Type: research

Cover Image
(Source: Birth Defects Research Part A: Clinical and Molecular Teratology)
Source: Birth Defects Research Part A: Clinical and Molecular Teratology - January 18, 2016 Category: Perinatology & Neonatology Tags: Cover Image Source Type: research

Elevated congenital anomaly rates and incorporated cesium‐137 in the Polissia region of Ukraine
ConclusionNTD and M/M rates are highest in the Polissia region of Rivne and are among the highest in Europe. In Polissia, the WBCs of Cs‐137 are above officially set permissible upper limits. The results are based on aggregate data of NTDs and M/Ms and average WBC values. Further investigations of causality of the high rates of NTDs and M/Ms are needed and urgent strengthening policies and implementations to reduce exposures to teratogens, in particular radioactive nuclides and alcohol, and consumption of folic acid supplements are indicated. Birth Defects Research (Part A), 2016. © 2016 Wiley Periodicals, Inc. (Source:...
Source: Birth Defects Research Part A: Clinical and Molecular Teratology - January 1, 2016 Category: Perinatology & Neonatology Authors: Wladimir Wertelecki, Alfred Koerblein, Bogdana Ievtushok, Nataliya Zymak‐Zakutnia, Oleksandr Komov, Illia Kuznietsov, Serhiy Lapchenko, Zoriana Sosyniuk Tags: Original Research Article Source Type: research