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

{"title":"Sirenomelia in Argentina: Prevalence, geographic clusters and temporal trends analysis","authors":"Boris Groisman,&nbsp;Rosa Liascovich,&nbsp;Juan Antonio Gili,&nbsp;Pablo Barbero,&nbsp;María Paz Bidondo,&nbsp;the RENAC Task Force","doi":"10.1002/bdra.23501","DOIUrl":"10.1002/bdra.23501","url":null,"abstract":"<div>\u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Sirenomelia is a severe malformation of the lower body characterized by a single medial lower limb and a variable combination of visceral abnormalities. Given that Sirenomelia is a very rare birth defect, epidemiological studies are scarce. The aim of this study is to evaluate prevalence, geographic clusters and time trends of sirenomelia in Argentina, using data from the National Network of Congenital Anomalies of Argentina (RENAC) from November 2009 until December 2014.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>This is a descriptive study using data from the RENAC, a hospital-based surveillance system for newborns affected with major morphological congenital anomalies. We calculated sirenomelia prevalence throughout the period, searched for geographical clusters, and evaluated time trends.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>The prevalence of confirmed cases of sirenomelia throughout the period was 2.35 per 100,000 births. Cluster analysis showed no statistically significant geographical aggregates. Time-trends analysis showed that the prevalence was higher in years 2009 to 2010.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>The 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) 106:604–611, 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 7","pages":"604-611"},"PeriodicalIF":0.0,"publicationDate":"2016-04-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1002/bdra.23501","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"34388176","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":"Maternal risk factors involved in specific congenital anomalies of the kidney and urinary tract: A case–control study","authors":"Sander Groen in 't Woud,&nbsp;Kirsten Y. Renkema,&nbsp;Michiel F. Schreuder,&nbsp;Charlotte H.W. Wijers,&nbsp;Loes F.M. van der Zanden,&nbsp;Nine V.A.M. Knoers,&nbsp;Wout F.J. Feitz,&nbsp;Ernie M.H.F. Bongers,&nbsp;Nel Roeleveld,&nbsp;Iris A.L.M. van Rooij","doi":"10.1002/bdra.23500","DOIUrl":"https://doi.org/10.1002/bdra.23500","url":null,"abstract":"<div>\u0000 \u0000 <section>\u0000 \u0000 <h3> BACKGROUND</h3>\u0000 \u0000 <p>Congenital anomalies of the kidney and urinary tract (CAKUT) comprise a heterogeneous group of birth defects with a variety of genetic and nongenetic factors suspected of involvement in the etiology. However, little is known about risk factors in specific CAKUT phenotypes. Therefore, we studied potential maternal risk factors in individual phenotypes within the CAKUT spectrum.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> METHODS</h3>\u0000 \u0000 <p>Questionnaire data were collected from parents of 562 children with CAKUT and 2139 healthy controls within the AGORA data- and biobank. Potential maternal risk factors investigated included folic acid use, overweight and obesity, smoking, alcohol consumption, subfertility, and diabetes mellitus. We performed logistic regression analyses to assess associations between these potential risk factors and CAKUT phenotypes.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> RESULTS</h3>\u0000 \u0000 <p>Increased risks of CAKUT were observed for folic acid use and maternal obesity, while fertility treatment by <i>in vitro</i> fertilization or intrauterine insemination and diabetes diagnosed during pregnancy also seem to be associated with CAKUT. Use of multivitamins reduced the risk (odds ratio [OR], 0.5; 95% confidence interval [CI], 0.2–1.0) as opposed to use of folic acid supplements only (OR, 1.3; 95% CI, 1.0–1.8). Folic acid use was associated with duplex collecting systems (OR, 1.8; 95% CI, 1.0–3.4) and vesicoureteral reflux (OR, 1.8; 95% CI, 1.1–2.9) in particular. A relatively strong association was observed between diabetes during pregnancy and posterior urethral valves (OR, 2.6; 95% CI, 1.1–5.9).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> CONCLUSION</h3>\u0000 \u0000 <p>Use 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) 106:596–603, 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 7","pages":"596-603"},"PeriodicalIF":0.0,"publicationDate":"2016-04-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1002/bdra.23500","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"90136515","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":"Maternal risk factors involved in specific congenital anomalies of the kidney and urinary tract: A case-control study.","authors":"Sander Groen in 't Woud, K. Renkema, M. Schreuder, C. Wijers, Loes F. M. van der Zanden, N. Knoers, W. Feitz, E. Bongers, N. Roeleveld, I. V. van Rooij","doi":"10.1002/bdra.23500","DOIUrl":"https://doi.org/10.1002/bdra.23500","url":null,"abstract":"BACKGROUND\u0000Congenital anomalies of the kidney and urinary tract (CAKUT) comprise a heterogeneous group of birth defects with a variety of genetic and nongenetic factors suspected of involvement in the etiology. However, little is known about risk factors in specific CAKUT phenotypes. Therefore, we studied potential maternal risk factors in individual phenotypes within the CAKUT spectrum.\u0000\u0000\u0000METHODS\u0000Questionnaire data were collected from parents of 562 children with CAKUT and 2139 healthy controls within the AGORA data- and biobank. Potential maternal risk factors investigated included folic acid use, overweight and obesity, smoking, alcohol consumption, subfertility, and diabetes mellitus. We performed logistic regression analyses to assess associations between these potential risk factors and CAKUT phenotypes.\u0000\u0000\u0000RESULTS\u0000Increased risks of CAKUT were observed for folic acid use and maternal obesity, while fertility treatment by in vitro fertilization or intrauterine insemination and diabetes diagnosed during pregnancy also seem to be associated with CAKUT. Use of multivitamins reduced the risk (odds ratio [OR], 0.5; 95% confidence interval [CI], 0.2-1.0) as opposed to use of folic acid supplements only (OR, 1.3; 95% CI, 1.0-1.8). Folic acid use was associated with duplex collecting systems (OR, 1.8; 95% CI, 1.0-3.4) and vesicoureteral reflux (OR, 1.8; 95% CI, 1.1-2.9) in particular. A relatively strong association was observed between diabetes during pregnancy and posterior urethral valves (OR, 2.6; 95% CI, 1.1-5.9).\u0000\u0000\u0000CONCLUSION\u0000Use 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) 106:596-603, 2016. © 2016 Wiley Periodicals, Inc.","PeriodicalId":8983,"journal":{"name":"Birth defects research. Part A, Clinical and molecular teratology","volume":"36 10 1","pages":"596-603"},"PeriodicalIF":0.0,"publicationDate":"2016-04-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"90655336","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":"Red Blood Cell Folate Insufficiency among nonpregnant Women of Childbearing age in Guatemala 2009 to 2010: Prevalence and predicted Neural Tube Defects risk","authors":"Jorge Rosenthal,&nbsp;Mary-Elizabeth Reeve,&nbsp;Nicte Ramirez,&nbsp;Krista S. Crider,&nbsp;Joe Sniezek,&nbsp;Claudia Vellozzi,&nbsp;Owen Devine,&nbsp;Eunice Lopez-Pazos","doi":"10.1002/bdra.23499","DOIUrl":"https://doi.org/10.1002/bdra.23499","url":null,"abstract":"<div>\u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>The World Health Organization recently released recommendations stating that red blood cell (RBC) folate concentrations should be above 400 ng/L (906 nmol/L) for optimal prevention of folate-sensitive neural tube defects (NTDs). The objective of this study was to determine the distribution of folate insufficiency (FI) (&lt;906 nmol/L) and potential risk of NTDs based on RBC folate concentrations among nonpregnant women of child-bearing age in Guatemala.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>A national and regional multistage cluster probability survey was completed during 2009 to 2010 among Guatemalan women of child-bearing age 15 to 49 years of age. Demographic and health information and blood samples for RBC folate analyses were collected from 1473 women. Prevalence rate ratios of FI and predicted NTD prevalence were estimated based on RBC folate concentrations comparing subpopulations of interest.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>National FI prevalence was 47.2% [95% confidence interval, 43.3–51.1] and showed wide variation by region (18–81%). In all regions, FI prevalence was higher among indigenous (27–89%) than among nonindigenous populations (16–44%). National NTD risk based on RBC folate concentrations was estimated to be 14 per 10,000 live births (95% uncertainty interval, 11.1–18.6) and showed wide regional variation (from 11 NTDS in the Metropolitan region to 26 NTDs per 10,000 live births in the Norte region).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>FI 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) 106:587–595, 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 7","pages":"587-595"},"PeriodicalIF":0.0,"publicationDate":"2016-03-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1002/bdra.23499","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"91867449","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":"Analysis of polymorphisms of genes associated with folate-mediated one-carbon metabolism and neural tube defects in Chinese Han Population","authors":"Wei Piao,&nbsp;Jin Guo,&nbsp;Yihua Bao,&nbsp;Fang Wang,&nbsp;Ting Zhang,&nbsp;Junsheng Huo,&nbsp;Kunlin Zhang","doi":"10.1002/bdra.23478","DOIUrl":"10.1002/bdra.23478","url":null,"abstract":"<div>\u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>The polymorphism of genes involved in folate-mediated one-carbon metabolism may be a risk factor for neural tube defects (NTDs). In the present study, we aimed to investigate the single nucleotide polymorphisms (SNPs) of the genes <i>BHMT</i>, <i>CUBN</i>, <i>FTCD</i>, <i>GAMT</i>, <i>GART</i>, <i>SARDH</i>, <i>SHMT1</i>, and <i>MUT</i>, and their effect on NTDs in the Chinese Han population.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>A total of 270 NTDs cases and 192 controls were enrolled in this study. The SNPs were analyzed with the next-generation sequencing method. The folate levels of brain tissues from 113 available NTDs cases and 123 available controls were measured.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Next-generation sequencing identified 818 single nucleotide variants, including 214 SNPs used for further analysis. Statistical analysis showed that two independent SNP loci, rs2797840 and rs2073817 in <i>SARDH</i>, may be associated with the susceptibility of NTDs. Specifically, the minor allele G of rs2797840 was significantly associated with NTDs risk in spina bifida subgroup (<i>p</i> value = 0.0348). For subjects whose folate content was measured, the protective allele G of rs2797840 was significantly associated with increased folate content of brain. rs2797840 is within several ENCODE regulatory regions, indicating this SNPs may influence expression of <i>SARDH</i>.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>The SNPs rs2797840 and rs2073817 in <i>SARDH</i> 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) 106:232–239, 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 4","pages":"232-239"},"PeriodicalIF":0.0,"publicationDate":"2016-03-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1002/bdra.23478","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"85166750","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":"Maternal exposure to radiographic exams and major structural birth defects","authors":"Hyeyeun Lim,&nbsp;Charles W. Beasley,&nbsp;Lawrence W. Whitehead,&nbsp;Robert J. Emery,&nbsp;A.J. Agopian,&nbsp;Peter H. Langlois,&nbsp;Dorothy K. Waller,&nbsp;the National Birth Defects Prevention Study","doi":"10.1002/bdra.23496","DOIUrl":"https://doi.org/10.1002/bdra.23496","url":null,"abstract":"<div>\u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>An increasing number of radiologic exams are performed in the United States, but very few studies have examined the effects of maternal exposure to radiologic exams during the periconceptional period and birth defects.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Objectives</h3>\u0000 \u0000 <p>To assess the association between maternal exposure to radiologic exams during the periconceptional period and 19 categories of birth defects using a large population-based study of birth defects.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We studied 27,809 case mothers and 10,200 control mothers who participated in the National Birth Defects Prevention Study and delivered between 1997 and 2009. Maternal exposure to radiologic exams that delivered ionizing radiation to the urinary tract, lumbar spine, abdomen, or pelvis were identified based on the mother's report of type of radiologic exams, organ or body part scanned and the month during which the exam occurred</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Overall, 0.9% of mothers reported exposure to one of these types of radiographic exams during the periconceptional period. We observed significant associations between maternal exposure during the first trimester and isolated Dandy-Walker malformation (odds ratio = 7.7; 95% confidence interval, 1.8–33) and isolated d-transposition of the great arteries (odds ratio = 3.8; 95% confidence interval, 1.4–10.3). However, the result for isolated Dandy-Walker malformation was based on only two exposed cases.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>These results should be interpreted cautiously because multiple statistical tests were conducted and measurements of exposure were based on maternal report. However, our results may be useful for generating hypotheses for future studies. Birth Defects Research (Part A) 106:563–572, 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 7","pages":"563-572"},"PeriodicalIF":0.0,"publicationDate":"2016-03-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1002/bdra.23496","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"91860207","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":"Limitations, depressive symptoms, and quality of life among a population-based sample of young adults with congenital heart defects","authors":"Sherry L. Farr,&nbsp;Matthew E. Oster,&nbsp;Regina M. Simeone,&nbsp;Suzanne M. Gilboa,&nbsp;Margaret A. Honein","doi":"10.1002/bdra.23498","DOIUrl":"https://doi.org/10.1002/bdra.23498","url":null,"abstract":"<div>\u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Little population-based data exist on limitations and health-related quality of life (HRQoL) in adults with congenital heart defects (CHD).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We used 2004 to 2012 Medical Expenditure Panel Survey data to identify a population-based sample of young adults ages 18 to 40 years reporting health symptoms or healthcare encounters in the previous year. Comparing adults reporting CHD to others, we examined the prevalence of cognitive, physical, and activity limitations, depressive symptoms, and physical and mental HRQoL. We used chi square tests to examine differences in demographic characteristics, logistic regression to generate adjusted prevalence ratios (aPR), and linear regression to examine HRQoL. Multivariable associations were adjusted for sex, age, race/ethnicity, and smoking status. All analyses were conducted in SUDAAN using weights to account for clustering within sampling units and nonresponse.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Fifty-nine adults reported CHD (weighted prevalence = 0.1%; representing 700,000 U.S. adults from 2004 to 2012 or, on average, 80,000 per year) and 54,011 did not. No demographic characteristics differed significantly by CHD status except health insurance; 31.5% of adults with CHD, compared with 11.0% without, reported public insurance (<i>p</i> = 0.01). Compared with their counterparts, adults reporting CHD had a higher prevalence of cognitive (aPR = 2.7, 95% confidence interval (CI): 1.0, 7.2), physical (aPR = 4.0, 95% CI: 1.9, 8.2), and activity limitations (aPR = 4.8, 95% CI: 2.6, 9.1), and poorer physical HRQoL (<i>p</i> = 0.004). No differences were observed in depressive symptoms and mental HRQoL by CHD status.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>Physical 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.</p>\u0000 </section>\u0000 </div>","PeriodicalId":8983,"journal":{"name":"Birth defects research. Part A, Clinical and molecular teratology","volume":"106 7","pages":"580-586"},"PeriodicalIF":0.0,"publicationDate":"2016-03-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1002/bdra.23498","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"91845699","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":"Limitations, depressive symptoms, and quality of life among a population-based sample of young adults with congenital heart defects.","authors":"S. Farr, M. Oster, Regina M. Simeone, S. Gilboa, M. Honein","doi":"10.1002/bdra.23498","DOIUrl":"https://doi.org/10.1002/bdra.23498","url":null,"abstract":"BACKGROUND\u0000Little population-based data exist on limitations and health-related quality of life (HRQoL) in adults with congenital heart defects (CHD).\u0000\u0000\u0000METHODS\u0000We used 2004 to 2012 Medical Expenditure Panel Survey data to identify a population-based sample of young adults ages 18 to 40 years reporting health symptoms or healthcare encounters in the previous year. Comparing adults reporting CHD to others, we examined the prevalence of cognitive, physical, and activity limitations, depressive symptoms, and physical and mental HRQoL. We used chi square tests to examine differences in demographic characteristics, logistic regression to generate adjusted prevalence ratios (aPR), and linear regression to examine HRQoL. Multivariable associations were adjusted for sex, age, race/ethnicity, and smoking status. All analyses were conducted in SUDAAN using weights to account for clustering within sampling units and nonresponse.\u0000\u0000\u0000RESULTS\u0000Fifty-nine adults reported CHD (weighted prevalence = 0.1%; representing 700,000 U.S. adults from 2004 to 2012 or, on average, 80,000 per year) and 54,011 did not. No demographic characteristics differed significantly by CHD status except health insurance; 31.5% of adults with CHD, compared with 11.0% without, reported public insurance (p = 0.01). Compared with their counterparts, adults reporting CHD had a higher prevalence of cognitive (aPR = 2.7, 95% confidence interval (CI): 1.0, 7.2), physical (aPR = 4.0, 95% CI: 1.9, 8.2), and activity limitations (aPR = 4.8, 95% CI: 2.6, 9.1), and poorer physical HRQoL (p = 0.004). No differences were observed in depressive symptoms and mental HRQoL by CHD status.\u0000\u0000\u0000CONCLUSION\u0000Physical 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.","PeriodicalId":8983,"journal":{"name":"Birth defects research. Part A, Clinical and molecular teratology","volume":"96 6 1","pages":"580-6"},"PeriodicalIF":0.0,"publicationDate":"2016-03-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"83362668","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":"When the right (Drug) should be left: Prenatal drug exposure and heterotaxy syndrome","authors":"Nicole R. van Veenendaal,&nbsp;Cynthia D.J. Kusters,&nbsp;Roelof-Jan Oostra,&nbsp;Jorieke E.H. Bergman,&nbsp;Jan-Maarten Cobben","doi":"10.1002/bdra.23497","DOIUrl":"https://doi.org/10.1002/bdra.23497","url":null,"abstract":"<div>\u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Recent studies reported an association between prenatal propylthiouracil exposure and birth defects, including abnormal arrangement across the left–right body axis, suggesting an association with heterotaxy syndrome.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>This case–control and case-finding study used data from 1981 to 2013 from the EUROCAT birth defect registry in the Northern Netherlands. First, we explored prenatal exposures in heterotaxy syndrome (cases) and Down syndrome (controls). Second, we describe the specific birth defects in offspring of mothers using propylthiouracil (PTU) prenatally.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> RESULTS</h3>\u0000 \u0000 <p>A total of 66 cases with heterotaxy syndrome (incidence 12.1 per 100,000 pregnancies) and 783 controls with Down syndrome (143.3 per 100,000 pregnancies) were studied. No differences in intoxication use during pregnancy were found between cases and controls, including smoking (28.0% vs. 22.7%; <i>p</i> = 0.40), alcohol (14.0% vs. 26.9%; <i>p</i> = 0.052), and recreational drugs (0 vs. 0.3%; <i>p</i> = 1.00). We found an association between heterotaxy syndrome and prenatal drug exposure to follitropin-alfa (5.6% vs. 1.1%; <i>p</i> = 0.04), and drugs used in nicotine dependence (3.7% vs. 0.2%; <i>p</i> = 0.02). Five mothers used PTU during pregnancy and gave birth to a child with trisomy 18, renal abnormalities, or hypospadias and cardiac defects.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>This 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) 106:573–579, 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 7","pages":"573-579"},"PeriodicalIF":0.0,"publicationDate":"2016-03-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1002/bdra.23497","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"91838955","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":"Compound heterozygosity of a paternal submicroscopic deletion and a maternal missense mutation in POR gene: Antley-bixler syndrome phenotype in three sibling fetuses","authors":"Maria Tzetis,&nbsp;Anastasia Konstantinidou,&nbsp;Christalena Sofocleous,&nbsp;Konstantina Kosma,&nbsp;Anastasios Mitrakos,&nbsp;Christina Tzannatos,&nbsp;Sofia Kitsiou-Tzeli","doi":"10.1002/bdra.23492","DOIUrl":"https://doi.org/10.1002/bdra.23492","url":null,"abstract":"<div>\u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Antley-Bixler syndrome (ABS) is an exceptionally rare craniosynostosis syndrome that can be accompanied by disordered steroidogenesis, and is mainly caused by mutations in the <i>POR</i> gene, inherited in an autosomal recessive manner. Here we report the prenatal and postmortem findings of three sibling fetuses with ABS as a result of compound heterozygosity of a paternal submicroscopic deletion and a maternal missense mutation in the <i>POR</i> gene.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Prenatal ultrasound and postmortem examination were performed in three sibling fetuses with termination of pregnancy at 22, 23, and 17 weeks of gestation, respectively. Molecular analysis of fetus 2 and 3 included (a) bidirectional sequencing of exon 8 of the <i>POR</i> gene after amplification of the specific locus by polymerase chain reaction, to detect single nucleotide variants (SNVs) and (b) high resolution comparative genomic hybridization (CGH) positive single nucleotide polymorphism array CGH (aCGH) analysis to detect copy number variants (CNVs), copy neutral areas of loss of heterozygosity and uniparental disomy.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>The diagnosis of ABS was suggested by the postmortem examination findings. The combination of the <i>POR</i> gene molecular analysis and aCGH revealed a compound heterozygous genotype of a maternal SNV (p.A287P) and a paternal CNV (NC_000007.13:g.(?_75608488)_(75615534_?)del).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>To 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 <i>POR</i> 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) 106:536–541, 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 7","pages":"536-541"},"PeriodicalIF":0.0,"publicationDate":"2016-03-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1002/bdra.23492","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"91826417","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}