Birth Defects Research. Part A, Clinical And Molecular Teratology[JOURNAL]
Sun
200 papers
Use of hierarchical models to analyze European trends in congenital anomaly prevalence.
Cavadino A, Prieto-Merino D, Addor MC … +19 more , Arriola L, Bianchi F, Draper E, Garne E, Greenlees R, Haeusler M, Khoshnood B, Kurinczuk J, McDonnell B, Nelen V, O'Mahony M, Randrianaivo H, Rankin J, Rissmann A, Tucker D, Verellen-Dumoulin C, de Walle H, Wellesley D, Morris JK
Birth Defects Res A Clin Mol Teratol · 2016 Jun · PMID 27301561 · Publisher ↗
BACKGROUND: Surveillance of congenital anomalies is important to identify potential teratogens. Despite known associations between different anomalies, current surveillance methods examine trends within each subgroup sep...
BACKGROUND: Surveillance of congenital anomalies is important to identify potential teratogens. Despite known associations between different anomalies, current surveillance methods examine trends within each subgroup separately. We aimed to evaluate whether hierarchical statistical methods that combine information from several subgroups simultaneously would enhance current surveillance methods using data collected by EUROCAT, a European network of population-based congenital anomaly registries. METHODS: Ten-year trends (2003 to 2012) in 18 EUROCAT registries over 11 countries were analyzed for the following groups of anomalies: neural tube defects, congenital heart defects, digestive system, and chromosomal anomalies. Hierarchical Poisson regression models that combined related subgroups together according to EUROCAT's hierarchy of subgroup coding were applied. Results from hierarchical models were compared with those from Poisson models that consider each congenital anomaly separately. RESULTS: Hierarchical models gave similar results as those obtained when considering each anomaly subgroup in a separate analysis. Hierarchical models that included only around three subgroups showed poor convergence and were generally found to be over-parameterized. Larger sets of anomaly subgroups were found to be too heterogeneous to group together in this way. CONCLUSION: There were no substantial differences between independent analyses of each subgroup and hierarchical models when using the EUROCAT anomaly subgroups. Considering each anomaly separately, therefore, remains an appropriate method for the detection of potential changes in prevalence by surveillance systems. Hierarchical models do, however, remain an interesting alternative method of analysis when considering the risks of specific exposures in relation to the prevalence of congenital anomalies, which could be investigated in other studies. Birth Defects Research (Part A) 106:480-10, 2016. © 2016 Wiley Periodicals, Inc.
Evidence for a teratogenic risk in the offspring of health personnel exposed to ionizing radiation?!
Wiesel A, Stolz G, Queisser-Wahrendorf A
Birth Defects Res A Clin Mol Teratol · 2016 Jun · PMID 27301560 · Publisher ↗
BACKGROUND: 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 explo...
BACKGROUND: 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. METHODS: 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. RESULTS: 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. CONCLUSION: 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.
Management and outcomes of neonates with down syndrome admitted to neonatal units.
Mann JP, Statnikov E, Modi N … +3 more , Johnson N, Springett A, Morris JK
Birth Defects Res A Clin Mol Teratol · 2016 Jun · PMID 27301559 · Publisher ↗
BACKGROUND: Neonates with Down syndrome have an increased risk of being admitted to a neonatal unit compared with unaffected neonates. We aimed to estimate the proportion of neonates with Down syndrome admitted to a neon...
BACKGROUND: Neonates with Down syndrome have an increased risk of being admitted to a neonatal unit compared with unaffected neonates. We aimed to estimate the proportion of neonates with Down syndrome admitted to a neonatal unit and compare their management and outcomes with other neonatal admissions. METHODS: Case-control study of neonates born from 2009 to 2011 admitted to 122 NHS Neonatal Units in England using data from the National Down Syndrome Cytogenetic Register and the National Neonatal Research Database. For each neonate with Down syndrome, three neonates admitted to the same unit in the same month and born at the same gestation were identified. RESULTS: Forty-six percent of neonates with Down syndrome were admitted to a neonatal unit. Boys were more likely to be admitted than girls (odds ratio = 1.7; 95% confidence interval, 1.4-2.0). Neonates with Down syndrome required more intensive or high dependency care compared with unaffected neonates (37% vs. 27%. p < 0.01) and stayed in neonatal units for longer (11 days vs. 5 days, p < 0.01). A total of 31% of neonates with Down syndrome required respiratory support compared with 22% (p < 0.001) of unaffected neonates, and 11% were discharged requiring oxygen supplementation compared with 3% (p < 0.001) of unaffected neonates. A total of 3% of neonates with Down syndrome died in a neonatal unit compared with 1% (p = 0.01) of unaffected neonates. CONCLUSION: Neonates with Down syndrome are more likely than unaffected neonates to be admitted to a neonatal unit, have a prolonged stay, and be discharged home on supplemental oxygen. Birth Defects Research (Part A) 106:468-474, 2016. © 2016 Wiley Periodicals, Inc.
Is advanced maternal age a risk factor for congenital heart disease?
Best KE, Rankin J
Birth Defects Res A Clin Mol Teratol · 2016 Jun · PMID 27301558 · Publisher ↗
BACKGROUND: Studies have reported that advanced maternal age is a risk factor for congenital heart disease (CHD), but none of these have been performed in the United Kingdom. Currently, women in the United Kingdom are no...
BACKGROUND: Studies have reported that advanced maternal age is a risk factor for congenital heart disease (CHD), but none of these have been performed in the United Kingdom. Currently, women in the United Kingdom are not referred for specialist fetal echocardiography based on maternal age alone. The aim of this study is to examine the association between maternal age at delivery and CHD prevalence in the North of England. METHODS: Singleton cases of CHD notified to the Northern Congenital Abnormality Survey and born between January 1, 1998, to December 31, 2013, were included. Cases with chromosomal anomalies were excluded. The relative risk (RR) of CHD according to maternal age at delivery was estimated using Poisson regression. RESULTS: There were 4024 singleton cases of nonchromosomal CHD, giving a prevalence of 8.1 (95% confidence interval [CI], 7.8-8.3) per 1000 live and stillbirths. There was no association between maternal age at delivery and CHD prevalence (p = 0.97), with no evidence of an increased risk of CHD in mothers aged ≥35 compared to aged 25 to 29 (RR = 0.99; 95% CI, 0.89-1.09). There were no significant associations between maternal age at delivery and severity III CHD (p = 0.84), severity II CHD (p = 0.74), or severity I CHD (p = 0.66), although there was a slight increased risk of severity I CHD in mothers aged ≥35 (RR = 1.27; 95% CI, 0.83-1.95). CONCLUSION: We found little evidence that advanced maternal age is a risk factor for CHD. There is no evidence that women in the United Kingdom should be referred for specialist prenatal cardiac screening based on their age. Birth Defects Research (Part A) 106:461-467, 2016. © 2016 Wiley Periodicals, Inc.
Acute alcohol exposure during mouse gastrulation alters lipid metabolism in placental and heart development: Folate prevention.
Linask KK, Han M
Birth Defects Res A Clin Mol Teratol · 2016 Sep · PMID 27296863 · Full text
BACKGROUND: Embryonic acute exposure to ethanol (EtOH), lithium, and homocysteine (HCy) induces cardiac defects at the time of exposure; folic acid (FA) supplementation protects normal cardiogenesis (Han et al., , ; Serr...
BACKGROUND: Embryonic acute exposure to ethanol (EtOH), lithium, and homocysteine (HCy) induces cardiac defects at the time of exposure; folic acid (FA) supplementation protects normal cardiogenesis (Han et al., , ; Serrano et al., ). Our hypothesis is that EtOH exposure and FA protection relate to lipid and FA metabolism during mouse cardiogenesis and placentation. METHODS: On the morning of conception, pregnant C57BL/6J mice were placed on either of two FA-containing diets: a 3.3 mg health maintenance diet or a high FA diet of 10.5 mg/kg. Mice were injected a binge level of EtOH, HCy, or saline on embryonic day (E) 6.75, targeting gastrulation. On E15.5, cardiac and umbilical blood flow were examined by ultrasound. Embryonic cardiac tissues were processed for gene expression of lipid and FA metabolism; the placenta and heart tissues for neutral lipid droplets, or for medium chain acyl-dehydrogenase (MCAD) protein. RESULTS: EtOH exposure altered lipid-related gene expression on E7.5 in comparison to control or FA-supplemented groups and remained altered on E15.5 similarly to changes with HCy, signifying FA deficiency. In comparison to control tissues, the lipid-related acyl CoA dehydrogenase medium length chain gene and its protein MCAD were altered with EtOH exposure, as were neutral lipid droplet localization in the heart and placenta. CONCLUSION: EtOH altered gene expression associated with lipid and folate metabolism, as well as neutral lipids, in the E15.5 abnormally functioning heart and placenta. In comparison to controls, the high FA diet protected the embryo and placenta from these effects allowing normal development. Birth Defects Research (Part A) 106:749-760, 2016. © 2016 The Authors Birth Defects Research Part A: Clinical and Molecular Teratology Published by Wiley Periodicals, Inc.
Prenatal diagnosis, hospital characteristics, and mortality in transposition of the great arteries.
Lara DA, Fixler DE, Ethen MK … +3 more , Canfield MA, Nembhard WN, Morris SA
Birth Defects Res A Clin Mol Teratol · 2016 Sep · PMID 27296724 · Full text
BACKGROUND: The role of prenatal diagnosis in reducing neonatal mortality from transposition of the great arteries (TGA) is controversial. Factors affected by prenatal diagnosis such as proximity at birth to a cardiac su...
BACKGROUND: The role of prenatal diagnosis in reducing neonatal mortality from transposition of the great arteries (TGA) is controversial. Factors affected by prenatal diagnosis such as proximity at birth to a cardiac surgical center (CSC) and CSC volume are associated with mortality in congenital heart disease. The purpose of the study was to determine the associations between prenatal diagnosis, distance from birthplace to a CSC, CSC TGA volume, and neonatal mortality in patients with TGA. METHODS: The Texas Birth Defects Registry was queried for all live born infants with TGA from 1999 to 2007. Four hundred sixty-eight cases of TGA were included. RESULTS: Forty-eight patients (10.3%) were prenatally diagnosed, and 20 patients died before age 28 days (4.3%). Neither prenatal diagnosis nor close proximity to a CSC at birth (p > 0.05) were associated with decreased mortality. Low CSC TGA volume was associated with increased mortality (p < 0.0002). Mortality at the CSCs with <5 patients per year was 9.6%; CSCs with 5 to 10 patients per year had 0% mortality, and those with >10 patients per year had 2.3% mortality. In multivariable logistic regression, only preterm birth (odds ratio, 7.05; 95% confidence interval, 4.13-12.05) and lower CSC volume (p < 0.001) were associated with neonatal mortality, although prenatal diagnosis attenuated the detrimental association of lower volume CSCs with higher mortality (p for interaction = 0.047). CONCLUSION: Lower CSC TGA patient volume was associated with higher neonatal mortality. Prenatal diagnosis may improve survival in lower volume CSCs. Birth Defects Research (Part A) 106:739-748, 2016. © 2016 Wiley Periodicals, Inc.
Acardiac twin pregnancies part II: Fetal risk of chorangioma and sacrococcygeal teratoma predicted by pump/acardiac umbilical vein diameters.
van Gemert MJ, Nikkels PG, Paarlberg KM … +2 more , van den Wijngaard JP, Gardiner HM
Birth Defects Res A Clin Mol Teratol · 2016 Sep · PMID 27273226 · Publisher ↗
BACKGROUND: 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 t...
BACKGROUND: 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. METHODS: 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. RESULTS: 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. CONCLUSION: 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.
Temporal trend in the reported birth prevalence of cleft lip and/or cleft palate in Brazil, 2000 to 2013.
Abreu MH, Lee KH, Luquetti DV … +1 more , Starr JR
Birth Defects Res A Clin Mol Teratol · 2016 Sep · PMID 27256471 · Publisher ↗
BACKGROUND: 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. METHODS: We used data fr...
BACKGROUND: 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. METHODS: 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. RESULTS: 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. CONCLUSION: 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.
Indoor air pollution and the risk of orofacial clefts in a rural population in Shanxi province, China.
Liu Y, Wang B, Li Z … +3 more , Zhang L, Liu J, Ren A
Birth Defects Res A Clin Mol Teratol · 2016 Aug · PMID 27227359 · Publisher ↗
BACKGROUND: 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 to...
BACKGROUND: 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. METHODS: 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. RESULTS: 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 (p < 0.001). CONCLUSION: 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.
Birth defects in infants born to employees of a microelectronics and business machine manufacturing facility.
Silver SR, Pinkerton LE, Rocheleau CM … +3 more , Deddens JA, Michalski AM, Van Zutphen AR
Birth Defects Res A Clin Mol Teratol · 2016 Aug · PMID 27224896 · Full text
BACKGROUND: 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 defec...
BACKGROUND: 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. METHODS: 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. RESULTS: External comparisons for structural defects were at expectation for infants of male workers (SPR = 1.01; 95% confidence interval [CI], 0.77-1.29; n = 60) and lower for births to female workers (SPR = 0.84; 95% CI, 0.50-1.33; n = 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; n = 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; n = 7). CONCLUSION: 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.
Prospective study of pregnancy and newborn outcomes in mothers with West nile illness during pregnancy.
Pridjian G, Sirois PA, McRae S … +10 more , Hinckley AF, Rasmussen SA, Kissinger P, Buekens P, Hayes EB, O'Leary D, Kuhn S, Swan KF, Xiong X, Wesson DM
Birth Defects Res A Clin Mol Teratol · 2016 Aug · PMID 27223334 · Full text
BACKGROUND: 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...
BACKGROUND: 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. METHODS: 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. RESULTS: 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. CONCLUSION: 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.
PLAGL1 epimutation and bladder exstrophy: Coincidence or concurrent etiology?
Kolarova J, Bens S, Ammerpohl O … +4 more , Hilger AC, Zhang R, Reutter H, Siebert R
Birth Defects Res A Clin Mol Teratol · 2016 Aug · PMID 27223093 · Publisher ↗
BACKGROUND: 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...
BACKGROUND: 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. METHODS: We analyzed the DNA methylation of 54 imprinted loci in 23 selected patients with different BEEC subtypes (epispadias n = 1, classical bladder exstrophy n = 10, exstrophy of the cloaca n = 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. RESULTS: 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 PLAGL1 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. CONCLUSION: Considering that it is highly unlikely to detect a PLAGL1 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.
Folic acid fortification and prevalences of neural tube defects, orofacial clefts, and gastroschisis in California, 1989 to 2010.
Yang W, Carmichael SL, Shaw GM
Birth Defects Res A Clin Mol Teratol · 2016 Dec · PMID 27191125 · Publisher ↗
BACKGROUND: We examined whether prevalences of neural tube defects (NTDs), orofacial clefts, and gastroschisis changed more rapidly after than before folic acid fortification in California. METHODS: This population-based...
BACKGROUND: We examined whether prevalences of neural tube defects (NTDs), orofacial clefts, and gastroschisis changed more rapidly after than before folic acid fortification in California. METHODS: 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. RESULTS: 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. CONCLUSION: 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.
Determining the association between methylenetetrahydrofolate reductase (MTHFR) gene polymorphisms and genomic DNA methylation level: A meta-analysis.
Wang L, Shangguan S, Chang S … +5 more , Yu X, Wang Z, Lu X, Wu L, Zhang T
Birth Defects Res A Clin Mol Teratol · 2016 Aug · PMID 27173682 · Publisher ↗
BACKGROUND: The methylenetetrahydrofolate reductase (MTHFR) polymorphism is a risk factor for neural tube defects. C677T and A1298C MTHFR polymorphisms produce an enzyme with reduced folate-related one carbon metabolism,...
BACKGROUND: The methylenetetrahydrofolate reductase (MTHFR) polymorphism is a risk factor for neural tube defects. C677T and A1298C MTHFR polymorphisms produce an enzyme with reduced folate-related one carbon metabolism, and this has been associated with aberrant methylation modifications in DNA and protein. METHODS: A meta-analysis was conducted to assess the association between MTHFR C677T/A1298C genotypes and global genomic methylation. RESULTS: Eleven studies met the inclusion criteria. Of these, 10 were performed on C677T MTHFR genotypes and 6 were performed on A1298C MTHFR genotypes. Our results did not indicate any correlation between global methylation and MTHFR A1298C, C677T polymorphisms. CONCLUSION: The results of our study provide evidence to assess the global methylation modification alterations of MTHFR polymorphisms among individuals. However, our data did not found any conceivable proof supporting the hypothesis that common variant of MTHFR A1298C, C677T contributes to methylation modification. Birth Defects Research (Part A) 106:667-674, 2016. © 2016 Wiley Periodicals, Inc.
Levels of folate receptor autoantibodies in maternal and cord blood and risk of neural tube defects in a Chinese population.
Yang N, Wang L, Finnell RH … +6 more , Li Z, Jin L, Zhang L, Cabrera RM, Ye R, Ren A
Birth Defects Res A Clin Mol Teratol · 2016 Aug · PMID 27166990 · Full text
BACKGROUND: After years of periconceptional folic acid supplementation, the prevalence of neural tube defects (NTDs) remains stable following the remarkable reduction observed immediately after the fortification practice...
BACKGROUND: After years of periconceptional folic acid supplementation, the prevalence of neural tube defects (NTDs) remains stable following the remarkable reduction observed immediately after the fortification practice. There is accumulating evidence that folate receptor (FR) autoimmunity may play a role in the etiology of folate-sensitive NTDs. METHODS: From 2011 to 2013, 118 NTD cases and 242 healthy controls were recruited from a population-based birth defects surveillance system in Northern China. Enzyme-linked immunosorbent assay was used to measure FR autoantibodies in maternal and cord blood. Logistic regression models were used to estimate the odds ratios (OR) and 95% confidence intervals (95% CI). RESULTS: Plasma FR autoantibodies levels were significantly elevated in mothers of infants with NTDs compared with mothers of healthy controls. Using the lowest tertile as the referent group, 2.20-fold (95% CI, 0.71-6.80) and 5.53-fold increased odds (95% CI, 1.90-16.08) of NTDs were observed for the second and third tertile of immunoglobulin G (IgG), respectively, and the odds of NTDs for each successive tertile of IgM was 0.98 (95% CI, 0.35-2.75) and 3.49 (95% CI, 1.45-8.39), respectively. A dose-response relationship was found between FR autoantibodies levels and risk of NTDs (P < 0.001 for IgG, P = 0.002 for IgM). The same pattern was observed in both subtypes of spina bifida and anencephaly. No significant difference in levels of cord blood FR autoantibodies was observed. CONCLUSION: Higher levels of FR autoimmunity in maternal plasma are associated with elevated risk of NTDs in a dose-response manner. Birth Defects Research (Part A) 106:685-695, 2016. © 2016 Wiley Periodicals, Inc.
AGORA, a data- and biobank for birth defects and childhood cancer.
van Rooij IA, van der Zanden LF, Bongers EM … +35 more , Renkema KY, Wijers CH, Thonissen M, Dokter EM, Marcelis CL, de Blaauw I, Wijnen MH, Hoogerbrugge PM, Bokkerink JP, Schreuder MF, Koster-Kamphuis L, Cornelissen EA, Kapusta L, van Heijst AF, Liem KD, de Gier RP, Kuijpers-Jagtman AM, Admiraal RJ, Bergé SJ, van der Biezen JJ, Verdonck A, Vander Poorten V, Hens G, Roosenboom J, Lilien MR, de Jong TP, Broens P, Wijnen R, Brooks A, Franke B, Brunner HG, Carels CE, Knoers NV, Feitz WF, Roeleveld N
Birth Defects Res A Clin Mol Teratol · 2016 Aug · PMID 27150573 · Publisher ↗
BACKGROUND: Research regarding the etiology of birth defects and childhood cancer is essential to develop preventive measures, but often requires large study populations. Therefore, we established the AGORA data- and bio...
BACKGROUND: Research regarding the etiology of birth defects and childhood cancer is essential to develop preventive measures, but often requires large study populations. Therefore, we established the AGORA data- and biobank in the Netherlands. In this study, we describe its rationale, design, and ongoing data collection. METHODS: Children diagnosed with and/or treated for a structural birth defect or childhood cancer and their parents are invited to participate in the AGORA data- and biobank. Controls are recruited through random sampling from municipal registries. The parents receive questionnaires about demographics, family and pregnancy history, health status, prescribed medication, lifestyle, and occupational exposures before and during the index pregnancy. In addition, blood or saliva is collected from children and parents, while medical records are reviewed for diagnostic information. RESULTS: So far, we have collected data from over 6,860 families (3,747 birth defects, 905 childhood cancers, and 2,208 controls). The types of birth defects vary widely and comprise malformations of the digestive, respiratory, and urogenital tracts as well as facial, cardiovascular, kidney, skeletal, and central nervous system anomalies. The most frequently occurring childhood cancer types are acute lymphatic leukemia, Hodgkin and non-Hodgkin lymphoma, Wilms' tumor, and brain and spinal cord tumors. Our genetic and/or epidemiologic studies have been focused on hypospadias, anorectal malformations, congenital anomalies of the kidney and urinary tract (CAKUT), and orofacial clefts. CONCLUSION: The large AGORA data- and biobank offers great opportunities for investigating genetic and nongenetic risk factors for disorders in children and is open to collaborative initiatives. Birth Defects Research (Part A) 106:675-684, 2016. © 2016 Wiley Periodicals, Inc.
Bone morphogenetic protein type I receptor inhibition induces cleft palate associated with micrognathia and cleft lower lip in mice.
Lai Y, Xie C, Zhang S … +3 more , Gan G, Wu D, Chen W
Birth Defects Res A Clin Mol Teratol · 2016 Jul · PMID 27150428 · Publisher ↗
BACKGROUND: Gain-of- and loss-of-function studies have demonstrated that changes in bone morphogenetic protein (BMP) signaling during embryo development cause craniofacial malformations, including cleft palate. It remain...
BACKGROUND: Gain-of- and loss-of-function studies have demonstrated that changes in bone morphogenetic protein (BMP) signaling during embryo development cause craniofacial malformations, including cleft palate. It remains uncertain whether BMP signaling could be targeted pharmacologically to affect craniofacial morphogenesis. METHODS: Pregnant C57Bl/6J mice were treated with the BMP type I receptor inhibitor LDN-193189 at the dose of 3, 6, or 9 mg/kg twice a day by intraperitoneal injection from embryonic day 10.5 (E10.5) to E15.5. At E16.5, embryos were investigated by facial measurement analysis and histology to determine the optimal concentration for malformation. Subsequent embryonic phenotypes were analyzed in detail by histology, whole-mount skeletal staining, micro-computed tomography, and palatal organic culture. We further used immunohistochemistry to analyze protein expression of the BMP-mediated canonical and noncanonical signaling components. RESULTS: The optimal concentration of LDN-193189 was determined to be 6 mg/kg. In utero, LDN-193189 exposures induced partial clefting of the anterior palate or complete cleft palate, which was attributed to a reduced cell proliferation rate in the secondary palate, and delayed palatal elevation caused by micrognathia. Analysis of signal transduction in palatal shelves at E12.5 and E13.5 identified a significant reduction of BMP/Smad signaling (p-Smad1/5/8) and unchanged BMP noncanonical signaling (p-p38, p-Erk1/2) after treatment with LDN-193189. CONCLUSION: The results of this study indicate that LDN-193189 can be used to manipulate BMP signaling by selectively targeting the BMP/Smad signaling pathway to affect palatal morphogenesis and produce phenotypes mimicking those caused by genetic mutations. This work established a novel mouse model for teratogen-induced cleft palate. Birth Defects Research (Part A) 106:612-623, 2016. © 2016 Wiley Periodicals, Inc.
Impact of elective termination on the occurrence of severe birth defects identified in a hospital-based active malformations surveillance program (1999 to 2002).
Thomas EG, Toufaily MH, Westgate MN … +3 more , Hunt AT, Lin AE, Holmes LB
Birth Defects Res A Clin Mol Teratol · 2016 Aug · PMID 27116560 · Publisher ↗
BACKGROUND: The number of affected infants and the types of malformations identified by a malformation surveillance programs can be impacted if elective terminations for malformations are not included. METHODS: The occur...
BACKGROUND: The number of affected infants and the types of malformations identified by a malformation surveillance programs can be impacted if elective terminations for malformations are not included. METHODS: The occurrence of malformations in all newborn infants was determined in a daily review of the findings in the pediatricians' examinations and those of all consultants. In addition, the findings in autopsies of all elective terminations were reviewed to identify all fetuses with structural abnormalities. A severity scale was used to subdivide the malformations. To establish the impact of elective termination, the malformed infants identified in the Active Malformations Surveillance Program at Brigham and Women's Hospital in Boston were analyzed for the 2 years before and after the hospital decreased significantly the number of elective terminations temporarily (1999-2000 vs. 2001-2002). The effect on the number of malformations identified at birth, as well as malformations of greater severity, was determined. RESULTS: The number of terminated fetuses with malformations decreased dramatically after termination services were interrupted (p < 0.0001). There were no differences in the prevalence rates of all malformations in the 2 years before and after the change in access to elective terminations. However, there were significant decreases in the number of infants identified with lethal/life-limiting and severe/handicapping malformations. CONCLUSION: In the surveillance for malformations among newborn infants, the inclusion of malformed fetuses from elective terminations had a significant effect on the number of infants with the more severe malformations identified. Birth Defects Research (Part A) 106:659-666, 2016. © 2016 Wiley Periodicals, Inc.
Joint effects of genetic variants and residential proximity to pesticide applications on hypospadias risk.
Carmichael SL, Yang W, Ma C … +6 more , Roberts E, Kegley S, English P, Lammer EJ, Witte JS, Shaw GM
Birth Defects Res A Clin Mol Teratol · 2016 Aug · PMID 27098078 · Full text
BACKGROUND: We examined risks associated with joint exposure of gene variants and pesticides. METHODS: Analyses included 189 cases and 390 male controls born from 1991 to 2003 in California's San Joaquin Valley. We used...
BACKGROUND: We examined risks associated with joint exposure of gene variants and pesticides. METHODS: Analyses included 189 cases and 390 male controls born from 1991 to 2003 in California's San Joaquin Valley. We used logistic regression to examine risks associated with joint exposures of gene variants and pesticides that our previous work identified as associated with hypospadias. Genetic variables were based on variants in DGKK, genes involved in sex steroid synthesis/metabolism, and genes involved in genital tubercle development. Pesticide exposure was based on residential proximity to commercial agricultural pesticide applications. RESULTS: Odds ratios (ORs) were highest among babies with joint exposures, who had two- to fourfold increased risks; for example, the OR was 3.7 (95% confidence interval [CI], 0.8-16.5) among subjects with the risk-associated DGKK haplotype and pesticide exposure; OR, 1.5 (95% CI, 0.7-3.1) among subjects with the haplotype and no pesticide exposure; and OR, 0.9 (95% CI, 0.5-1.6) among subjects without the haplotype but with pesticide exposure, relative to subjects with neither. However, results did not provide statistical evidence that these risks were significantly greater than expected on an additive scale, relative to risks associated with one exposure at a time. CONCLUSION: We observed elevated risks associated with joint exposures to selected pesticides and genetic variants but no statistical evidence for interaction. Birth Defects Research (Part A) 106:653-658, 2016. © 2016 Wiley Periodicals, Inc.
Case-control study of nutritional and environmental factors and the risk of oral clefts in Thailand.
McKinney CM, Pisek A, Chowchuen B … +5 more , DeRouen T, Muktabhant B, Pradubwong S, Yeung C, Pitiphat W
Birth Defects Res A Clin Mol Teratol · 2016 Jul · PMID 27097933 · Full text
BACKGROUND: One infant in 700 is born with an oral cleft. Prior studies suggest low micronutrient status is associated with an increased risk of oral clefts. Environmental factors such as passive smoke exposure or supple...
BACKGROUND: One infant in 700 is born with an oral cleft. Prior studies suggest low micronutrient status is associated with an increased risk of oral clefts. Environmental factors such as passive smoke exposure or supplement use may also affect oral cleft risk. We examined nutrition and environmental related risk factors for oral clefts. METHODS: We conducted a case-control study in Northeast Thailand in 2012 to 2013. We enrolled 95 cases and 95 controls. We recruited cases with a nonsyndromic cleft lip with or without a cleft palate (CL±P) less than 24 months old. Cases were matched to controls on age and place of conception. We collected survey data, a food frequency questionnaire, and measured zinc concentrations in toenail trimmings. We calculated descriptive statistics by case and control status. We used conditional logistic regression to estimate unadjusted and adjusted associations, 95% confidence intervals (CIs), and p-values. RESULTS: Any liver intake (adjusted OR [aOR] for ≥1/week versus none), 10.58; 95%CI, 1.74-64.37, overall p = 0.02) and the presence of food insecurity (aOR, 9.62; 95% CI, 1.52-61.05; p = 0.02) in the periconceptional period increased CL±P risk. Passive smoke exposure increased the risk of CL±P (aOR, 6.52; 95% CI, 1.98-21.44; p < 0.01). Toenail zinc concentrations were not associated with CL±P risk. CONCLUSION: Our findings add to a growing body of knowledge of environmental risk factors for oral clefts from low- and middle-income countries. Our findings on liver are contradictory to prior results. Large multisite studies are needed to identify environmental and genetic risk factors for oral clefts. Birth Defects Research (Part A) 106:624-632, 2016. © 2016 Wiley Periodicals, Inc.
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