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

{"title":"Evidence for a teratogenic risk in the offspring of health personnel exposed to ionizing radiation?!","authors":"Awi Wiesel,&nbsp;Gabriela Stolz,&nbsp;Annette Queisser-Wahrendorf","doi":"10.1002/bdra.23532","DOIUrl":"10.1002/bdra.23532","url":null,"abstract":"<div>\u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>The evidence concerning safety of occupational exposure to ionizing radiation on teratogenic effects mainly relies on animal models, disaster epidemiology and experience in cancer etiology. Following an explorative result on maternal exposure in medical occupations we conducted a feasibility study, addressing congenital anomalies (CA) in the offspring of health workers potentially exposed to radiation.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>In a prospective follow-up study, we enrolled women, identified by mandatory registration at the office of radiation protection as wearing a dosimeter. The participating women answered a questionnaire and if pregnant agreed to an examination of their infant. CA were diagnosed and categorized, and demographic and anamnestic findings (including dosimeter values) were ascertained. Mainz Birth Registry data were used for comparison, and a nonresponder analysis was performed.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Answers were received from 286 of 604 (51%) women exposed and 183 (30.3%) of them participated in the study including 88 nonparticipants who provided exposure data only. Further sources of ionizing radiation and other factors relevant for CA did not differ between the groups. Thirty pregnancies occurred among the participants. Eight of the resulting 27 infants were diagnosed with CA (30%) compared with 6.2% of the comparison group.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>Previous explorative findings were corroborated by this feasibility study. The increased prevalence for CA could not be explained by any other factor. A preferable prospective active design is achievable, and the participation rate is essential to calculate valid results and answer this important issue. Birth Defects Research (Part A) 106:475–479, 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 6","pages":"475-479"},"PeriodicalIF":0.0,"publicationDate":"2016-06-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1002/bdra.23532","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"34479855","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Use of azathioprine and corticosteroids during pregnancy and birth outcome in women diagnosed with inflammatory bowel disease","authors":"Anne Veie Plauborg,&nbsp;Anne Vinkel Hansen,&nbsp;Ester Garne","doi":"10.1002/bdra.23509","DOIUrl":"10.1002/bdra.23509","url":null,"abstract":"<div>\u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>The aim of this study was to describe prescription patterns for azathioprine and corticosteroids for pregnant women with inflammatory bowel diseases (IBD) before, during, and after pregnancy and to describe pregnancy outcomes.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>A cohort composed of all singleton pregnancies in Danish registries from 1996 to 2009 was divided by maternal IBD status: Crohn's disease (CD, <i>n</i> = 827), ulcerative colitis (UC, <i>N</i> = 1361), or no IBD diagnosis (background population, <i>n</i> = 814,231). The number of women with a prescription for azathioprine, local and systemic steroids within a 3-month period was computed for each of the pregnancy trimesters and the year before and after pregnancy. Outcomes of interest were stillbirth, perinatal mortality, low birth weight (LBW), preterm birth, and small for gestational age (SGA).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Number of prescriptions for azathioprine decreased just before and during pregnancy and increased after birth. Number of prescriptions for local and systemic corticosteroids decreased approximately 30% compared with before pregnancy and increased in the second trimester. There was an increased risk among mothers with IBD of LBW (adjusted odds ratio [adjOR]: CD: 2.25 [95% confidence interval {CI}, 1.74–2.91], UC: 1.81 [95% CI, 1.42–2.30]), preterm birth (adjOR: CD: 2.54 [95% CI, 2.04–3.15], UC: 1.86 [95% CI, 1.52–2.27]), and SGA (adjOR: CD: 1.99 [95% CI, 1.26–3.15], UC: 1.80 [95% CI, 1.18–2.75]).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>Use of azathioprine and corticosteroids was often reduced or discontinued before or during early pregnancy followed by an increased use of corticosteroids later in pregnancy. Women diagnosed with IBD and with prescriptions for azathioprine and/or corticosteroids, have an increased risk of LBW, pre-term birth, and SGA. Birth Defects Research (Part A) 106:494–499, 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 6","pages":"494-499"},"PeriodicalIF":0.0,"publicationDate":"2016-06-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1002/bdra.23509","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"34479858","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Acardiac twin pregnancies part II: Fetal risk of chorangioma and sacrococcygeal teratoma predicted by pump/acardiac umbilical vein diameters","authors":"Martin J.C. van Gemert,&nbsp;Peter G.J. Nikkels,&nbsp;K. Marieke Paarlberg,&nbsp;Jeroen P.H.M. van den Wijngaard,&nbsp;Helena M. Gardiner","doi":"10.1002/bdra.23531","DOIUrl":"10.1002/bdra.23531","url":null,"abstract":"<div>\u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>We recently published pump/acardiac umbilical venous diameter (UVD) ratios, representing the pump twin's excess cardiac output fraction, of 27 acardiac twin pregnancies. There was a clear separation between the 17 pump twins that had life-threatening complications and the 10 that did not. The hypothesis of this study is that placental chorangioma and sacrococcygeal teratoma (SCT), tumors whose perfusion also causes high-output complications, have the same fetal outcome as pump twins when perfusion of the tumor requires the same excess cardiac output fraction.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We compared the three fetoplacental circulations. Fetuses with a placental chorangioma and acardiac twin pregnancies both have their feeding artery and draining vein located at the placental cord insertion. In contrast, SCT lacks a prescribed feeding artery and draining vein. We, therefore, had to modify our model to assume that the diameter of the hypothetical draining vein is related to the flow difference between inferior vena cava and superior vena cava. The latter flow has been estimated sonographically and is the same as the inferior vena cava flow in the absence of an SCT. Furthermore, a simple modification accounts for the different location of the tumor with respect to the placental cord insertion.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>We propose to apply the clinical pump/acardiac UVD ratios to pregnancies complicated by placental chorangiomas and the modified pump/acardiac UVD ratios for SCT.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>Risk prediction of these rare fetal tumors may be possible based on application of data on excess cardiac output fractions from pump/acardiac UVD ratios and will require future clinical validation. Birth Defects Research (Part A) 106:733–738, 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 9","pages":"733-738"},"PeriodicalIF":0.0,"publicationDate":"2016-06-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1002/bdra.23531","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"34447546","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":"Temporal trend in the reported birth prevalence of cleft lip and/or cleft palate in Brazil, 2000 to 2013","authors":"Mauro Henrique Nogueira Guimarães Abreu,&nbsp;Kyu Ha Lee,&nbsp;Daniela Varela Luquetti,&nbsp;Jacqueline Rose Starr","doi":"10.1002/bdra.23528","DOIUrl":"10.1002/bdra.23528","url":null,"abstract":"<div>\u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>The birth prevalence of cleft lip with or without cleft palate (CL/P) in Brazil increased between the years from 1975 to 1994 but has not been evaluated for temporal trend since then.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We used data from the Brazilian National Health Information System for the years 2000 through 2013. We calculated the reported CL/P birth prevalence each year per 10,000 live births and estimated the average increase in reported prevalence per year (and 95% confidence interval [CI]) by fitting a negative binomial regression model. We also estimated the temporal trend in each of the five Brazilian regions for this time period.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>The overall reported birth prevalence was 4.85 (95% CI, 4.78–4.91) per 10,000 live births. The reported birth prevalence of CL/P increased over this time period, from 3.94 (95% CI, 3.73–4.17) per 10,000 in 2000 to 5.46 (95% CI, 5.20–5.74) per 10,000 in 2013. The temporal trend differed for different Brazilian geographic regions, being confined primarily to the Northeast (4.7% per year; 95% CI, 4.0%–5.5%), North (3.3% per year; 95% CI, 1.8%–4.7%), and Central (2.9% per year; 95% CI, 0.9%–4.9%) regions.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>In recent years, there appears to be an upward trend in the reported prevalence of CL/P in Brazil, confined to the less developed regions of the country. The increase likely reflects improved surveillance; whether it also reflects etiologic differences is unknown. Birth Defects Research (Part A) 106:789–792, 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 9","pages":"789-792"},"PeriodicalIF":0.0,"publicationDate":"2016-06-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1002/bdra.23528","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"34445972","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":"Obituary: Dr. Ed Lammer","authors":"Richard H. Finnell Ph.D.,&nbsp;Gary M. Shaw Dr.Ph.","doi":"10.1002/bdra.23524","DOIUrl":"https://doi.org/10.1002/bdra.23524","url":null,"abstract":"<p>The son of an Iowa schoolteacher and milkman, Ed was a gifted athlete who received his undergraduate education at Washington University in Saint Louis and his medical training at the University of Iowa. Following his pediatric residency in Iowa City, Dr. Lammer was an Epidemic Intelligence Service Officer at the Centers for Disease Control in Atlanta, GA prior to pursuing a medical genetics fellowship with Dr. Lewis B. Holmes at the Mass-General in Boston, MA. Ed received additional postdoctoral training at Stanford Medical School prior to establishing a brilliant career at the California Birth Defects Monitoring Program and the Children's Hospital Oakland Research Institute (now known as Benioff Children's Hospital Research Institute of the University of California, San Francisco) from which he retired in January, 2016.</p><p>As a pediatric geneticist and teratologist, Ed was an expert at diagnosing children with complex malformations. His keen understanding of genetics, epidemiology and teratology enabled him to make seminal contributions to the scientific literature, most notably about the risks involved to women of reproductive age being treated for cystic acne with the drug Accutane (Hoffmann-La Roche). His 1985 landmark paper in the <i>New England Journal of Medicine</i> describe his evaluation of 150 Accutane compromised pregnancies and described the most serious human teratogen since Thalidomide in the 1960s. He continued to publish on risks associated with <i>in utero</i> exposure to Accutane to fully articulate the clinical manifestations of the Accutane Embryopathy, and provided a unique insight into the underlying mechanisms of how this compound interfered with normal neural crest cell migration resulting in abnormal development. Ed also provided similar clinical and scientific insights into the teratogenicity of the anti-epileptic drug Depakene (Valproic Acid; Abbott Laboratories). Leaving behind a publication record of over 165 papers and many more to follow posthumously, Ed Lammer truly embodied the spirit of the Teratology Society's F. Clarke Fraser award for gifted young investigators, as the first recipient of the award and the individual most like the namesake of this honor.</p><p>In recent years, as the Principal Investigator of multiple National Institutes of Health grants, Ed directed a research program focused on gene-environment interactions that compromised heart and craniofacial development. He collaborated widely with colleagues at Stanford University School of Medicine, UC-Berkeley, UCSF, and the University of Texas, who valued his impeccable intellectual honesty and his rigorous high standards, as much as his unusual generosity. Ed was someone who lived well into the 21^st century without a cell phone. Using only his trusted ‘soul pilot’ (index card in chest pocket) to monitor his time and whereabouts, Ed could always make time to chat, discuss a case, hear out an idea for a grant or provide valued input ","PeriodicalId":8983,"journal":{"name":"Birth defects research. Part A, Clinical and molecular teratology","volume":"106 7","pages":"515-516"},"PeriodicalIF":0.0,"publicationDate":"2016-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1002/bdra.23524","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"91787084","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Indoor air pollution and the risk of orofacial clefts in a rural population in Shanxi province, China","authors":"Yingying Liu,&nbsp;Bin Wang,&nbsp;Zhiwen Li,&nbsp;Le Zhang,&nbsp;Jufen Liu,&nbsp;Aiguo Ren","doi":"10.1002/bdra.23522","DOIUrl":"10.1002/bdra.23522","url":null,"abstract":"<div>\u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Shanxi Province is a region in China with a high incidence of orofacial clefts (OFCs). Our objective is to investigate the effect of maternal exposure to indoor air pollution (IAP) from coal combustion and tobacco smoke on the risk of an infant being born with orofacial clefts.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Data were derived from an ongoing population-based case–control study of major external structural birth defects in Shanxi Province. Subjects included 213 cases with OFCs and 1319 healthy babies born between November 2002 and December 2014 in four rural counties. Exposure information was collected by face-to-face interview with mothers within 1 week of delivery or pregnancy termination. The authors derived an exposure index by integrating a series of IAP-related characteristics concerning dwelling and lifestyle.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Increased odds of OFC were associated with IAP exposure from heating (adjusted odds ratio [aOR] = 2.4; 95% confidence interval [CI], 1.2–4.5) and from smoking (aOR = 1.8; 95% CI: 1.3, 2.5), but not with exposure from cooking (aOR = 0.9; 95% CI, 0.6–1.4). Compared with women without IAP exposure, the aORs of OFC for children of women with exposure indices of 1, 2, 3 and ≥ 4 were 1.1 (95% CI, 0.6–1.8), 1.4 (95% CI, 0.8–2.4), 1.8 (95% CI, 1.0–3.2), and 3.4 (95% CI, 1.6–7.4), respectively, demonstrating a clear dose–response trend (<i>p</i> &lt; 0.001).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>Periconceptional exposure to IAP from coal combustion and tobacco smoking may increase the risk of OFCs in offsprings of women in Shanxi Province. Birth Defects Research (Part A) 106:708–715, 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 8","pages":"708-715"},"PeriodicalIF":0.0,"publicationDate":"2016-05-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1002/bdra.23522","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"34519395","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":"Birth defects in infants born to employees of a microelectronics and business machine manufacturing facility","authors":"Sharon R. Silver,&nbsp;Lynne E. Pinkerton,&nbsp;Carissa M. Rocheleau,&nbsp;James A. Deddens,&nbsp;Adrian M. Michalski,&nbsp;Alissa R. Van Zutphen","doi":"10.1002/bdra.23520","DOIUrl":"10.1002/bdra.23520","url":null,"abstract":"<div>\u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Concerns about solvent releases from a microelectronics/business machine manufacturing facility in upstate New York led to interest in the health of former workers, including this investigation of birth defects in children of male and female employees.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Children born 1983 to 2001 to facility employees were enumerated and matched to New York State's Congenital Malformations Registry. Reported structural birth defects were compared with numbers expected from state rates (excluding New York City), generating standardized prevalence ratios (SPRs). Exposure assessors classified employees as ever/never potentially exposed at the facility to metals, chlorinated hydrocarbons, and other hydrocarbons during windows critical to organogenesis (female workers) or spermatogenesis (male workers). Among workers, adjusted prevalence ratios were generated to evaluate associations between potential exposures and specific birth defects.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>External comparisons for structural defects were at expectation for infants of male workers (SPR = 1.01; 95% confidence interval [CI], 0.77–1.29; <i>n</i> = 60) and lower for births to female workers (SPR = 0.84; 95% CI, 0.50–1.33; <i>n</i> = 18). Among full-term infants of male workers, ventricular septal defects (VSDs) were somewhat elevated compared with the general population (SPR = 1.58; 95% CI, 0.99–2.39; <i>n</i> = 22). Within the cohort, potential paternal metal exposure was associated with increased VSD risk (adjusted prevalence ratio = 2.70; 95% CI, = 1.09–6.67; <i>n</i> = 7).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>While overall SPRs were near expectation, paternal exposure to metals (primarily lead) appeared to be associated with increased VSD risk in infants. Take-home of occupational exposures, nonoccupational exposures, and chance could not be ruled out as causes. Case numbers for many defects were small, limiting assessment of the role of occupational exposures. Birth Defects Research (Part A) 106:696–707, 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 8","pages":"696-707"},"PeriodicalIF":0.0,"publicationDate":"2016-05-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1002/bdra.23520","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"34425666","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":"PLAGL1 epimutation and bladder exstrophy: Coincidence or concurrent etiology?","authors":"Julia Kolarova,&nbsp;Susanne Bens,&nbsp;Ole Ammerpohl,&nbsp;Alina C. Hilger,&nbsp;Rong Zhang,&nbsp;Heiko Reutter,&nbsp;Reiner Siebert","doi":"10.1002/bdra.23521","DOIUrl":"10.1002/bdra.23521","url":null,"abstract":"<div>\u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>The bladder exstrophy-epispadias complex (BEEC) is characterized by a spectrum of genitourinary malformations. Both classical bladder exstrophy and the most severe phenotype, exstrophy of the cloaca, display omphaloceles, a cardinal anomaly of some disorders caused by altered imprinting. Therefore, we hypothesized that BEEC in some patients could occur on the basis of an undiagnosed imprinting disorder. Such altered imprinting is associated with changes in the parent-of-origin-specific DNA methylation.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We analyzed the DNA methylation of 54 imprinted loci in 23 selected patients with different BEEC subtypes (epispadias <i>n</i> = 1, classical bladder exstrophy <i>n</i> = 10, exstrophy of the cloaca <i>n</i> = 12) using the Infinium HumanMethylation450 BeadChip. A total of 471,722 not imprinted autosomal CpG loci and 891 imprinted CpG loci were investigated. Findings were corroborated by methylation-specific-multiplex ligation-dependent probe amplification (MS-MLPA) and microsatellite analysis.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>No significant differences in the DNA methylation of the not imprinted and imprinted CpG were observed depending on subtype of BEEC. Nevertheless, in 1 of the 23 patients who displayed a classical bladder exstrophy, we detected hypomethylation of the imprinted <i>PLAGL1</i> locus in chromosome 6q24. We verified this hypomethylation by MS-MLPA and showed further the methylation loss to be caused most likely by a mosaic epimutation.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>Considering that it is highly unlikely to detect a <i>PLAGL1</i> epimutation among 23 individuals given the low incidence of this alteration in the population, our observations further support a link between BEEC and imprinting disorders. Birth Defects Research (Part A) 106:724–728, 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 8","pages":"724-728"},"PeriodicalIF":0.0,"publicationDate":"2016-05-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1002/bdra.23521","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"34424561","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":"Prospective study of pregnancy and newborn outcomes in mothers with West nile illness during pregnancy","authors":"Gabriella Pridjian,&nbsp;Patricia A. Sirois,&nbsp;Scott McRae,&nbsp;Alison F. Hinckley,&nbsp;Sonja A. Rasmussen,&nbsp;Patricia Kissinger,&nbsp;Pierre Buekens,&nbsp;Edward B. Hayes,&nbsp;Dan O'Leary,&nbsp;Stephanie Kuhn,&nbsp;Kenneth F. Swan,&nbsp;Xu Xiong,&nbsp;Dawn M. Wesson","doi":"10.1002/bdra.23523","DOIUrl":"10.1002/bdra.23523","url":null,"abstract":"<div>\u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>A previous case report of West Nile virus (WNV) illness during pregnancy suggested that WNV could be a cause of congenital defects. We performed a prospective, longitudinal cohort study of pregnant women with WNV illness to increase our knowledge of the effects of WNV illness during pregnancy.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Participants were enrolled in 2005 to 2008 from pregnant women with serologically confirmed WNV illness reported to the Centers for Disease Control and Prevention. Comparison was made to WNV-uninfected women, matched on maternal age and enrollment month. Pregnancy and newborn data were collected; cord blood WNV serology was obtained. Pediatric exams and the Bayley Scales of Infant and Toddler Development-Third Edition (Bayley-III) were performed.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Twenty-eight WNV-infected mothers and 25 WNV-uninfected mothers participated. Maternal demographics were similar except for a higher rate of planned pregnancies, education, and household income in the WNV-uninfected mothers. There were no differences in pregnancy and delivery characteristics except that infected mothers had a higher incidence of febrile illnesses and used more medications. Birth weight, length, head circumference, and rate of congenital malformations were similar in babies born to WNV-infected and -uninfected mothers. Follow-up physical exams were generally normal. The Bayley-III assessments, available for 17 children born to mothers with WNV illness, showed performance at or above age level across domains.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>The risk for adverse pregnancy and newborn outcomes in women experiencing WNV illness in pregnancy appears to be low, but future studies with larger numbers are needed to rule out a small risk. Birth Defects Research (Part A) 106:716–723, 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 8","pages":"716-723"},"PeriodicalIF":0.0,"publicationDate":"2016-05-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1002/bdra.23523","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"34580731","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":"Folic acid fortification and prevalences of neural tube defects, orofacial clefts, and gastroschisis in California, 1989 to 2010","authors":"Wei Yang,&nbsp;Suzan L. Carmichael,&nbsp;Gary M. Shaw","doi":"10.1002/bdra.23514","DOIUrl":"10.1002/bdra.23514","url":null,"abstract":"<div>\u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>We examined whether prevalences of neural tube defects (NTDs), orofacial clefts, and gastroschisis changed more rapidly after than before folic acid fortification in California.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>This population-based study used vital statistics and birth defects registry data. The study population included all live births and stillbirths delivered in central California counties from 1989 to 2010. Cases included deliveries with NTDs, orofacial clefts, and gastroschisis. Weighted least squares regression was used to estimate slopes during prefortification (before 1997) and postfortification (after 1998), respectively. The difference of the two slopes with the 95% confidence interval (CI) was calculated.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>For all NTDs combined, slopes indicated that NTD prevalence was decreasing by 8.7 (slope: -8.7; 95% CI, -13.5–−3.9) cases per 100,000 deliveries per year before fortification and by 1.7 (slope: -1.7; 95% CI, -3.7–0.3) after fortification; thus the decline had slowed by 7.0 (95% CI, 2.7–11.3) cases per 100,000 deliveries per year. For orofacial clefts, slopes for cleft lip with/without palate as well as for cleft palate alone indicated that the postfortification slope was lower than the prefortification slope suggesting a more accelerated decrease in the postfortification time period. For gastroschisis, the slope after fortification was lower compared with prefortification, indicating a less accelerated prevalence increase in the postfortification time period. Stratification by race/ethnicity did not substantially alter results.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>We observed a slower decline in prevalence of NTDs, an emergence of a decline in orofacial clefts, and a slower increase in gastroschisis, during the postfortification period in central California, relative to the prefortification period. Birth Defects Research (Part A), 2016. © 2016 Wiley Periodicals, Inc. Birth Defects Research (Part A) 106:1032–1041, 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 12","pages":"1032-1041"},"PeriodicalIF":0.0,"publicationDate":"2016-05-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1002/bdra.23514","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"34494792","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}