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1.
Birth Defects Res ; 112(3): 270-277, 2020 Feb 01.
Artigo em Inglês | MEDLINE | ID: mdl-31863647

RESUMO

BACKGROUND: Arsenic is associated with several adverse health outcomes, including some birth defects. Although diet is the predominant route of arsenic exposure in the United States (U.S.), limited data exist regarding pre-pregnancy dietary arsenic consumption among U.S. women. METHODS: Using data collected in the National Birth Defects Prevention Study (NBDPS), we estimated daily dietary arsenic consumption during the year before pregnancy for 10,886 mothers of nonmalformed control children delivered from 1997-2011. Responses to the NBDPS dietary assessment and food item estimates of total and inorganic arsenic were used to estimate consumption. Associations between total and inorganic arsenic consumption and selected maternal characteristics were estimated using multinomial logistic regression. RESULTS: Estimates of mean maternal total and inorganic dietary arsenic consumption were 14.9 and 5.2 µg/day, respectively. Several positive and inverse associations with confidence intervals that excluded the null were observed. Comparing mothers in the middle or high total arsenic consumption tertiles to those in the low tertile, we observed positive associations (odds ratios = 1.3-3.8) for maternal age (≥30 years), lower (0-8 years) or higher (>12 years) education, race/ethnicity (non-Hispanic Black, Hispanic, other), and early pregnancy drinking with no binge episodes, and inverse associations (odds ratios = 0.4-0.8) for age (<25 years), body mass index (≥30.0 kg/m2 ), and early pregnancy smoking. Findings tended to be similar for inorganic arsenic consumption. CONCLUSIONS: These contemporary estimates of pre-pregnancy dietary arsenic consumption among U.S. women show associations between both total and inorganic dietary arsenic consumption and several maternal characteristics, improving characterization of the public health impact of this exposure.

2.
Paediatr Perinat Epidemiol ; 33(6): 436-448, 2019 11.
Artigo em Inglês | MEDLINE | ID: mdl-31637749

RESUMO

BACKGROUND: Medical advancements have resulted in better survival and life expectancy among those with spina bifida, but a significantly increased risk of perinatal and postnatal mortality for individuals with spina bifida remains. OBJECTIVES: To examine stillbirth and infant and child mortality among those affected by spina bifida using data from multiple countries. METHODS: We conducted an observational study, using data from 24 population- and hospital-based surveillance registries in 18 countries contributing as members of the International Clearinghouse for Birth Defects Surveillance and Research (ICBDSR). Cases of spina bifida that resulted in livebirths or stillbirths from 20 weeks' gestation or elective termination of pregnancy for fetal anomaly (ETOPFA) were included. Among liveborn spina bifida cases, we calculated mortality at different ages as number of deaths among liveborn cases divided by total number of liveborn cases with spina bifida. As a secondary outcome measure, we estimated the prevalence of spina bifida per 10 000 total births. The 95% confidence interval for the prevalence estimate was estimated using the Poisson approximation of binomial distribution. RESULTS: Between years 2001 and 2012, the overall first-week mortality proportion was 6.9% (95% CI 6.3, 7.7) and was lower in programmes operating in countries with policies that allowed ETOPFA compared with their counterparts (5.9% vs. 8.4%). The majority of first-week mortality occurred on the first day of life. In programmes where information on long-term mortality was available through linkage to administrative databases, survival at 5 years of age was 90%-96% in Europe, and 86%-96% in North America. CONCLUSIONS: Our multi-country study showed a high proportion of stillbirth and infant and child deaths among those with spina bifida. Effective folic acid interventions could prevent many cases of spina bifida, thereby preventing associated childhood morbidity and mortality.

3.
Birth Defects Res ; 111(20): 1655-1664, 2019 Dec 01.
Artigo em Inglês | MEDLINE | ID: mdl-31385443

RESUMO

OBJECTIVES: Gastroschisis remains an etiologic dilemma. We posit that an underlying genetic susceptibility either separately or coupled with a periconceptional environmental exposure stimulates an inflammatory response resulting in gastroschisis. To investigate the genetic link, we applied shared genomic segment (SGS) analysis, a novel approach to discover chromosomal segments that inherit in high-risk multigenerational pedigrees. METHODS: We studied pedigrees containing distantly related children with gastroschisis originating from a common ancestor. We used the Illumina OmniExpress genotyping array with >700,000 SNPs. Samples from 40 affected children in 13 pedigrees (≥3 affected children) were genotyped to generate the high-density SNP data necessary to perform SGS analysis. Assessment of significance in SGS was determined empirically using simulations based on precise pedigree structure and modeling linkage disequilibrium (LD) for SNPs in the general population to properly account for genetic architecture. The LD model was estimated from the 1000 Genome Project using the same set of SNPs. Genome-wide significance thresholds were determined for each pedigree. RESULTS: We identified six pedigrees that contained genome-wide statistically significant SGS regions inherited from a common founder. These regions were different in each pedigree, all contained immune pathway genes. DISCUSSION: The genome-wide significant regions support a genetic susceptibility for gastroschisis. The regions are compelling candidates for regionally focused genome sequencing, enabling the discovery of coding or noncoding (e.g., regulatory) risk variants, the latter of which are unlikely to be found using conventional exomic/gene-focused approaches. This technique provides a comprehensive and focused genomic interrogation that will help to advance our understanding of gastroschisis.

4.
Birth Defects Res ; 111(20): 1618-1632, 2019 Dec 01.
Artigo em Inglês | MEDLINE | ID: mdl-31328417

RESUMO

BACKGROUND: The National Birth Defects Prevention Study (NBDPS) is a multisite, population-based, case-control study of genetic and nongenetic risk factors for major structural birth defects. Eligible women had a pregnancy affected by a birth defect or a liveborn child without a birth defect between 1997 and 2011. They were invited to complete a telephone interview to collect pregnancy exposure data and were mailed buccal cell collection kits to collect specimens from themselves, their child (if living), and their child's father. Over 23,000 families representing more than 30 major structural birth defects provided DNA specimens. METHODS: To evaluate their utility for exome sequencing (ES), specimens from 20 children with colonic atresia were studied. Evaluations were conducted on specimens collected using cytobrushes stored and transported in open versus closed packaging, on native genomic DNA (gDNA) versus whole genome amplified (WGA) products and on a library preparation protocol adapted to low amounts of DNA. RESULTS: The DNA extracted from brushes in open packaging yielded higher quality sequence data than DNA from brushes in closed packaging. Quality metrics of sequenced gDNA were consistently higher than metrics from corresponding WGA products and were consistently high when using a low input protocol. CONCLUSIONS: This proof-of-principle study established conditions under which ES can be applied to NBDPS specimens. Successful sequencing of exomes from well-characterized NBDPS families indicated that this unique collection can be used to investigate the roles of genetic variation and gene-environment interaction effects in birth defect etiologies, providing a valuable resource for birth defect researchers.

5.
BMJ Open ; 9(3): e026297, 2019 03 30.
Artigo em Inglês | MEDLINE | ID: mdl-30928950

RESUMO

OBJECTIVE: To assess the association between occurrence and timing of maternal self-reported genitourinary tract infection (urinary tract infections [UTIs] and/or sexually transmitted infection [STI]) and risk for gastroschisis in the offspring. DESIGN: Population-based case-control study. SETTING: National Birth Defects Prevention Study, a multisite study in the USA. PARTICIPANTS: Mothers of 1366 gastroschisis cases and 11 238 healthy controls. MAIN OUTCOME MEASURES: Crude and adjusted ORs (aORs) with 95% CIs. RESULTS: Genitourinary infections were frequent in case (19.3%) and control women (9.9%) during the periconceptional period (defined as 3 months prior to 3 months after conception). UTI and/or STI in the periconceptional period were associated with similarly increased risks for gastroschisis (aOR 1.5, 95% CI 1.3 to 1.8; aOR 1.6, 95% CI 1.2 to 2.3, respectively). The risk was increased with a UTI before (aOR 2.5; 95% CI 1.4 to 4.5) or after (aOR 1.7; 95% CI 1.1 to 2.6) conception only among women ≥25 years of age. The risk was highest among women <20 years of age with an STI before conception (aOR 3.6; 95% CI 1.5 to 8.4) and in women ≥25 years of age, the risk was similar for before (aOR 2.9; 95% CI 1.0 to 8.5) and after (aOR 2.8; 95% CI 1.3 to 6.1) conception. A specific STI pathogen was reported in 89.3% (50/56) of cases and 84.3% (162/191) of controls with Chlamydia trachomatis the most common (25/50 cases, 50%; 58/162 controls, 36%) and highest among women <20 years of age (16/25 cases, 64%; 22/33 controls, 67%). CONCLUSIONS: UTI and/or STI were associated with an increased risk for gastroschisis, with the strength of the association varying by maternal age and timing of infection.

7.
Birth Defects Res ; 111(6): 294-311, 2019 04 01.
Artigo em Inglês | MEDLINE | ID: mdl-30816021

RESUMO

Recent advances have now made it possible to speak of gastroschisis narrowly in morphogenetic terms invoking the Rittler-Beaudoin (R-B) model. This proceeds from the appreciation of gastroschisis as a congenital intestinal herniation (without cover or liver) within the primordial umbilical ring, mostly to the right side of a normally formed umbilical cord. Presently, it is unresolved whether this visceral prolapse represents failure of ring closure before return of the physiological hernia into the abdomen or rupture of the delicate amniotic/peritoneal membrane at the ring's edge to the right of the cord. Animal observations and experiments will be required to address this question effectively. If gastroschisis is, in fact, a primary malformation with the primordial umbilical ring as the developmental field involved, then homology implies potential gastroschisis in all amniotes with corresponding nourishment from yolk sac (aka omphalomesenteric) vessels going into the embryo and excretory products out via the ancient umbilical connection. It also implies homology of corresponding morphogenetic signal transduction cascades. We review the history of gastroschisis, its presumed pathogenesis, and the developmental biology of the amniotic umbilical ring from this perspective. Therefore, based on the animal and human evidence to date, we propose that gastroschisis is a primary midline malformation that involves the umbilical canal from amniotic to peritoneal space and its primordial umbilical ring, either through nonclosure or rupture of the membrane covering the area, mostly to the right, between the cord and the edge of the ring.


Assuntos
Parede Abdominal/embriologia , Evolução Biológica , Biologia do Desenvolvimento , Gastrosquise/etiologia , Cordão Umbilical/anormalidades , Cordão Umbilical/embriologia , Parede Abdominal/patologia , Desenvolvimento Embrionário , Gastrosquise/embriologia , Gastrosquise/patologia , Humanos , Lactente , Recém-Nascido
8.
J Am Heart Assoc ; 8(3): e010995, 2019 02 05.
Artigo em Inglês | MEDLINE | ID: mdl-30696385

RESUMO

Background More intense and longer-lasting heat events are expected in the United States as a consequence of climate change. This study aimed to project the potential changes in maternal heat exposure during early pregnancy (3-8 weeks post conception) and the associated burden of congenital heart defects ( CHD s) in the future. Methods and Results This study expanded on a prior nationwide case-control study that evaluated the association between CHD s and maternal heat exposure during early pregnancy in summer and spring. We defined multiple indicators of heat exposure, and applied published odds ratios obtained for the matching season of the baseline (1995-2005) into the projection period (2025-2035) to estimate potential changes in CHD burden throughout the United States. Increases in maternal heat exposure were projected across the United States and to be larger in the summer. The Midwest will potentially have the highest increase in summer maternal exposure to excessively hot days (3.42; 95% CI, 2.99-3.88 per pregnancy), heat event frequency (0.52; 95% CI, 0.44-0.60) and heat event duration (1.73; 95% CI, 1.49-1.97). We also found large increases in specific CHD subtypes during spring, including a 34.0% (95% CI, 4.9%-70.8%) increase in conotruncal CHD in the South and a 38.6% (95% CI , 9.9%-75.1%) increase in atrial septal defect in the Northeast. Conclusions Projected increases in maternal heat exposure could result in an increased CHD burden in certain seasons and regions of the United States.


Assuntos
Cardiopatias Congênitas/epidemiologia , Temperatura Alta/efeitos adversos , Exposição Materna/efeitos adversos , Primeiro Trimestre da Gravidez , Efeitos Tardios da Exposição Pré-Natal/epidemiologia , Medição de Risco/métodos , Estações do Ano , Adulto , Feminino , Seguimentos , Cardiopatias Congênitas/etiologia , Humanos , Incidência , Recém-Nascido , Masculino , Gravidez , Estudos Retrospectivos , Fatores de Risco , Estados Unidos/epidemiologia
10.
Public Health Rep ; 134(2): 155-163, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-30593261

RESUMO

OBJECTIVE: The quantity and quality of dietary intake among women of reproductive age has important public health implications for nutritional status during pregnancy. We described dietary intake during the year before pregnancy among a large, diverse group of US mothers. METHODS: We examined data from 11 109 mothers who gave birth from 1997 through 2011 and participated in a population-based case-control study, the National Birth Defects Prevention Study, as controls (mothers who had babies without major birth defects). We examined whether subgroups of mothers at elevated risk of adverse pregnancy outcomes were more likely than their reference groups to have high dietary intake (>90th percentile of intake) or low dietary intake (<10th percentile of intake). We examined dietary intake of 22 nutritional factors, which were estimated from responses to a food frequency questionnaire. RESULTS: Participants who were aged <20, were nulliparous, had

Assuntos
Dieta/estatística & dados numéricos , Mães/estatística & dados numéricos , Cuidado Pré-Concepcional/estatística & dados numéricos , Adulto , Fatores Etários , Índice de Massa Corporal , Estudos de Casos e Controles , Grupos de Populações Continentais , Diabetes Mellitus/epidemiologia , Comportamento Alimentar , Feminino , Humanos , Hipertensão/epidemiologia , Estado Nutricional , Paridade , Gravidez , Gravidez não Planejada , Fatores de Risco , Fatores Socioeconômicos , Estados Unidos/epidemiologia , Adulto Jovem
11.
Environ Epidemiol ; 3(6): e071, 2019 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-32091506

RESUMO

Previous research reports associations between air pollution measured during pregnancy and the occurrence of congenital heart defects (CHDs) in offspring. The objective of this research was to assess if exposure to extreme heat events (EHEs) during pregnancy may modify this association. Methods: The study population consisted of 4,033 controls and 2,632 cases with dates of delivery between 1999 and 2007 who participated in the National Birth Defects Prevention Study, a multi-site case-control study in the United States. Daily data from the closest stationary fine particulate matter (PM2.5) monitor within 50 km from the maternal residence were averaged across weeks 3-8 post-conception. EHEs were defined as maximum ambient temperature in the upper 95th percentile for at least 2 consecutive days or the upper 90th percentile for 3 consecutive days. Logistic regression models were adjusted for maternal age, ethnicity, education, and average humidity. Relative excess risks due to interaction (RERI) were calculated. Results: Compared with women with low PM2.5 exposure and no exposure to an EHE, the odds of a ventricular septal defect in offspring associated with high PM2.5 exposure was elevated only among women who experienced an EHE (odds ratio [OR] 2.14 95% confidence interval [CI] 1.19, 3.38 vs. OR 0.97 95% CI 0.49, 1.95; RERI 0.82 95% CI -0.39, 2.17). The majority of observed associations and interactions for other heart defects were null and/or inconclusive due to lack of precision. Conclusions: This study provides limited evidence that EHEs may modify the association between prenatal exposure to PM2.5 and CHD occurrence.

12.
Birth Defects Res ; 110(19): 1443-1454, 2018 11 15.
Artigo em Inglês | MEDLINE | ID: mdl-30402975

RESUMO

BACKGROUND: Genitourinary infections (GUIs) are common among sexually active women. Yet, little is known about the risk of birth defects associated with GUIs. METHODS: Using data from the National Birth Defects Prevention Study, a multisite, population-based, case-control study, we assessed self-reported maternal GUIs in the month before through the third month of pregnancy (periconception) from 29,316 birth defect cases and 11,545 unaffected controls. We calculated odds ratios (ORs) and 95% confidence intervals to estimate the risk of 52 major structural birth defects associated with GUIs. We also calculated risk of birth defects associated with each type of GUI: urinary tract infection (UTI) and sexually transmitted infection (STI). RESULTS: In our analysis, 10% (n = 2,972) of case and 9% (n = 1,014) of control mothers reported a periconceptional GUI. A GUI was significantly associated with 11 of the 52 birth defects examined (ORs ranging from 1.19 to 2.26): encephalocele, cataracts, cleft lip, esophageal atresia, duodenal atresia/stenosis, small intestinal atresia/stenosis, colonic atresia/stenosis, transverse limb deficiency, conoventricular septal defect, atrioventricular septal defect, and secundum atrial septal defect. A periconceptional UTI was significantly associated with nine birth defects (ORs from 1.21 to 2.48), and periconceptional STI was significantly associated with four birth defects (ORs ranging from 1.63 to 3.72). CONCLUSIONS: While misclassification of GUIs in our analysis is likely, our findings suggest GUIs during the periconceptional period may increase the risk for specific birth defects.


Assuntos
Anormalidades Congênitas/epidemiologia , Vigilância da População/métodos , Adulto , Estudos de Casos e Controles , Anormalidades Congênitas/classificação , Feminino , Humanos , Recém-Nascido de Baixo Peso , Recém-Nascido , Modelos Logísticos , Masculino , Mães , Razão de Chances , Gravidez , Primeiro Trimestre da Gravidez , Efeitos Tardios da Exposição Pré-Natal/induzido quimicamente , Infecções do Sistema Genital/complicações , Infecções do Sistema Genital/fisiopatologia , Fatores de Risco , Autorrelato , Infecções Urinárias/complicações , Infecções Urinárias/fisiopatologia
13.
Birth Defects Res ; 110(19): 1468-1477, 2018 11 15.
Artigo em Inglês | MEDLINE | ID: mdl-30338937

RESUMO

BACKGROUND: Limited epidemiologic research exists on the association between weather-related extreme heat events (EHEs) and orofacial clefts (OFCs). We estimated the associations between maternal exposure to EHEs in the summer season and OFCs in offspring and investigated the potential modifying effect of body mass index on these associations. METHODS: We conducted a population-based case-control study among mothers who participated in the National Birth Defects Prevention Study for whom at least 1 day of their first two post-conception months occurred during summer. Cases were live-born infants, stillbirths, and induced terminations with OFCs; controls were live-born infants without major birth defects. We defined EHEs using the 95th and the 90th percentiles of the daily maximum universal apparent temperature distribution. We used unconditional logistic regression with Firth's penalized likelihood method to estimate adjusted odds ratios and 95% confidence intervals, controlling for maternal sociodemographic and anthropometric variables. RESULTS: We observed no association between maternal exposure to EHEs and OFCs overall, although prolonged duration of EHEs may increase the risk of OFCs in some study sites located in the Southeast climate region. Analyses by subtypes of OFCs revealed no associations with EHEs. Modifying effect by BMI was not observed. CONCLUSIONS: We did not find a significantly increased risk of OFCs associated with maternal exposure to EHEs during the relevant window of embryogenesis. Future studies should account for maternal indoor and outdoor activities and for characteristics such as hydration and use of air conditioning that could modify the effect of EHEs on pregnant women.


Assuntos
Encéfalo/anormalidades , Fenda Labial/etiologia , Fissura Palatina/etiologia , Calor Extremo/efeitos adversos , Vigilância da População/métodos , Adulto , Estudos de Casos e Controles , Feminino , Humanos , Recém-Nascido , Modelos Logísticos , Masculino , Exposição Materna/efeitos adversos , Mães , Razão de Chances , Gravidez , Primeiro Trimestre da Gravidez , Efeitos Tardios da Exposição Pré-Natal/induzido quimicamente , Fatores de Risco , Estações do Ano , Autorrelato , Temperatura Ambiente , Tempo (Meteorologia)
14.
J Community Genet ; 9(4): 411-415, 2018 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-30229536

RESUMO

Birth defects (BD), also known as congenital anomalies, are structural or functional abnormalities present at birth as a result of abnormal prenatal development. Their cause can be broadly categorized as genetic, environmental, or a combination of both. It is estimated that approximately 3-6% of newborn infants worldwide are affected by BD, many of which are associated with serious morbidity, mortality, and lifelong disabilities. The International Clearinghouse for Birth Defects Surveillance and Research (ICBDSR), founded in 1974, promotes worldwide birth defect surveillance, research, and prevention through the ongoing sharing of data, expertise, and training. In this review, we show value and contribution of BD surveillance systems in pursuing these aims. In the time of personalized medicine for many rare and common diseases, there are still massive gaps in our understanding of the causes and mechanisms of many birth defects, especially structural congenital anomalies. The main aim of the Sustainable Development Goals (SDGs), adopted by the United Nations in 2015, is to ensure healthy lives and promote well-being for all children. One specific goal is to end preventable deaths of newborns and children less than 5 years of age by 2030. The SDGs also underscore the need to consider BD as a priority in the global child health agenda. It can be said that counting BD helps BD to count. By sharing data and expertise and joining in surveillance and research, BD surveillance programs can play a major role in increasing our understanding of the causes of BD, and promoting prevention.

15.
Birth Defects Res ; 110(12): 1027-1042, 2018 07 17.
Artigo em Inglês | MEDLINE | ID: mdl-30133956

RESUMO

BACKGROUND: Maternal exposure to drinking water disinfection byproducts (DBP)s may contribute to orofacial cleft (OFC) development, but studies are sparse and beset with limitations. METHODS: Population-based, maternal interview reports of drinking water filtration and consumption for 680 OFC cases (535 isolated) and 1826 controls were linked with DBP concentration data using maternal residential addresses and public water system monitoring data. Maternal individual-level exposures to trihalomethanes (THM)s and haloacetic acids (HAA)s (µg/L of water consumed) were estimated from reported consumption at home, work, and school. Compared to no exposure, associations with multisource maternal exposure <1/2 or ≥1/2 the Maximum Contaminant Levels (MCL)s for total THMs (TTHM)s and HAAs (HAA5) or Maximum Contaminant Level Goals (MCLG)s for individual THMs and HAAs (if non-zero) were estimated for all OFCs and isolated OFCs, cleft palate (CP), and cleft lip ± cleft palate (CL/P) using logistic regression analyses. RESULTS: Compared to controls, associations were near or below unity for maternal TTHM, HAA5, and individual THM exposures with all OFCs and isolated OFCs, CP, and CL/P. Associations also were near or below unity for individual HAAs with statistically significant, inverse associations observed with each OFC outcome group except CL/P. CONCLUSIONS: This study examined associations for maternal reports of drinking water filtration and consumption and maternal DBP exposure from drinking water with OFCs in offspring. Associations observed were near or below unity and mostly nonsignificant. Continued, improved research using maternal individual-level exposure data will be useful in better characterizing these associations.


Assuntos
Encéfalo/anormalidades , Fenda Labial/etiologia , Fenda Labial/prevenção & controle , Fissura Palatina/etiologia , Fissura Palatina/prevenção & controle , Desinfecção , Água Potável/efeitos adversos , Acetatos/análise , Feminino , Humanos , Recém-Nascido , Masculino , Exposição Materna , Razão de Chances , Fatores de Risco , Trialometanos/análise
16.
Environ Int ; 118: 211-221, 2018 09.
Artigo em Inglês | MEDLINE | ID: mdl-29886237

RESUMO

BACKGROUND/OBJECTIVE: Few studies have assessed the effect of ambient heat during the fetal development period on congenital heart defects (CHDs), especially in transitional seasons. We examined and compared the associations between extreme heat and CHD phenotypes in summer and spring, assessed their geographical differences, and compared different heat indicators. METHODS: We identified 5848 CHD cases and 5742 controls (without major structural defects) from the National Birth Defects Prevention Study, a US multicenter, population-based case-control study. Extreme heat events (EHEs) were defined by using the 95th (EHE95) or 90th (EHE90) percentile of daily maximum temperature and its frequency and duration during postconceptional weeks 3-8. We used a two-stage Bayesian hierarchical model to examine both regional and study-wide associations. Exposure odds ratios (ORs) were calculated using multivariate logistic regression analyses, while controlling for potential confounding factors. RESULTS: Overall, we observed no significant relationships between maternal EHE exposure and CHDs in most regions during summer. However, we found that 3-11 days of EHE90 during summer and spring was significantly associated with ventricular septal defects (VSDs) study-wide (ORs ranged: 2.17-3.24). EHE95 in spring was significantly associated with conotruncal defects and VSDs in the South (ORs: 1.23-1.78). Most EHE indicators in spring were significantly associated with increased septal defects (both VSDs and atrial septal defects (ASDs)) in the Northeast. CONCLUSION: While generally null results were found, long duration of unseasonable heat was associated with the increased risks for VSDs and ASDs, mainly in South and Northeast of the US. Further research to confirm our findings is needed.


Assuntos
Cardiopatias Congênitas/epidemiologia , Exposição Materna/estatística & dados numéricos , Teorema de Bayes , Estudos de Casos e Controles , Estudos Transversais , Feminino , Temperatura Alta , Humanos , Razão de Chances , Gravidez , Estações do Ano , Estados Unidos/epidemiologia
17.
Matern Child Health J ; 22(10): 1418-1429, 2018 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-29574536

RESUMO

Introduction While associations between active smoking and various adverse birth outcomes (ABOs) have been reported in the literature, less is known about the impact of secondhand smoke (SHS) on many pregnancy outcomes. Methods We examined the relationship between maternal exposure to SHS during pregnancy and preterm (< 37 weeks gestation) and small-for-gestational age (SGA; assessed using sex-, race/ethnic-, and parity-specific growth curves) singleton births using non-smoking controls from the National Birth Defects Prevention Study (1997-2011). Multivariable logistic regression models for household, workplace/school, and combined SHS exposure-controlled for maternal education, race/ethnicity, pre-pregnancy body mass index, and high blood pressure-were used to estimate adjusted odds ratios (aORs) and 95% confidence intervals (CIs). Interaction was assessed for maternal folic acid supplementation, alcohol use, age at delivery, and infant sex. Results Infants of 8855 mothers were examined in the preterm birth analysis with 666 (7.5%) categorized as preterm, 574 moderately preterm (32-36 weeks), and 92 very preterm (< 32 weeks). For the SGA analysis, infants of 8684 mothers were examined with 670 (7.7%) categorized as SGA. The aORs for mothers reporting both household and workplace/school SHS were elevated for preterm (aOR 1.99; 95% CI 1.13-3.50) and moderately preterm birth (32-36 weeks) (aOR 2.17; 95% CI 1.22-3.88). No results for the SGA analysis achieved significance, nor was evidence of interaction evident. Conclusion The findings suggest an association between SHS from multiple exposure sources and preterm birth, but no evidence for association with SGA births. Continued study of SHS and ABOs is needed to best inform public health prevention programs.


Assuntos
Recém-Nascido Pequeno para a Idade Gestacional , Exposição Materna/efeitos adversos , Nascimento Prematuro/induzido quimicamente , Poluição por Fumaça de Tabaco/efeitos adversos , Adulto , Escolaridade , Feminino , Idade Gestacional , Humanos , Lactente , Recém-Nascido , Masculino , Gravidez , Resultado da Gravidez , Nascimento Prematuro/epidemiologia , Tabaco , Poluição por Fumaça de Tabaco/estatística & dados numéricos
18.
Birth Defects Res ; 110(7): 610-617, 2018 04 17.
Artigo em Inglês | MEDLINE | ID: mdl-29570242

RESUMO

OBJECTIVES: Congenital diaphragmatic hernia (CDH) is a developmental defect of the diaphragm that causes high newborn morbidity and mortality. CDH is considered to be a multifactorial disease, with strong evidence implicating genetic factors. Although recent studies suggest the biological role of deleterious germline de novo variants, the effect of gene variants specific to the diaphragm remains unclear, and few single genes have been definitively implicated in human disease. METHODS: We performed genome sequencing on 16 individuals with CDH and their unaffected parents, including 10 diaphragmatic samples. RESULTS: We did not detect damaging somatic mutations in diaphragms, but identified germline heterozygous de novo functional mutations of 14 genes in nine patients. Although the majority of these genes are not known to be associated with CDH, one patient with CDH and cardiac anomalies harbored a frameshift mutation in NR2F2 (aka COUP-TFII), generating a premature truncation of the protein. This patient also carried a missense variant predicted to be damaging in XIRP2 (aka Myomaxin), a transcriptional target of MEF2A. Both NR2F2 and MEF2A map to chromosome 15q26, where recurring de novo deletions and unbalanced translocations have been observed in CDH. CONCLUSIONS: Somatic variants are not common in CDH. To our knowledge, this is the second case of a germline de novo frameshift mutation in NR2F2 in CDH. Since NR2F2 null mice exhibit a diaphragmatic defect, and XIRP2 is implicated in cardiac development, our data suggest the role of these two variants in the etiology of CDH, and possibly cardiac anomalies.


Assuntos
Mutação da Fase de Leitura , Mutação em Linhagem Germinativa , Fator II de Transcrição COUP/genética , Proteínas de Ligação a DNA/genética , Feminino , Hérnias Diafragmáticas Congênitas/genética , Humanos , Proteínas com Domínio LIM/genética , Fatores de Transcrição MEF2/genética , Masculino , Proteínas Nucleares/genética
19.
Ann Epidemiol ; 27(10): 645-653.e2, 2017 10.
Artigo em Inglês | MEDLINE | ID: mdl-28993061

RESUMO

PURPOSE: To compare the use of nonsteroidal anti-inflammatory drugs (NSAIDs) and/or opioids to the use of acetaminophen without NSAIDs or opioids with respect to associations with birth defects. METHODS: We used data from the National Birth Defects Prevention Study (1997-2011). Exposure was self-reported maternal analgesic use from the month before through the third month of pregnancy (periconceptional). Adjusted odds ratios (aORs) were calculated to examine associations with 16 birth defects. RESULTS: Compared to acetaminophen, mothers reporting NSAIDs were significantly more likely to have offspring with gastroschisis, hypospadias, cleft palate, cleft lip with cleft palate, cleft lip without cleft palate, anencephaly, spina bifida, hypoplastic left heart syndrome, pulmonary valve stenosis, and tetralogy of Fallot (aOR range, 1.2-1.6). Opioids were associated with tetralogy of Fallot, perimembranous ventricular septal defect, and ventricular septal defect with atrial septal defect (aOR range, 1.8-2.3), whereas use of both opioids and NSAIDs was associated with gastroschisis, cleft palate, spina bifida, hypoplastic left heart syndrome, and pulmonary valve stenosis (aOR range, 2.0-2.9). CONCLUSIONS: Compared to periconceptional use of acetaminophen, selected birth defects occurred more frequently among infants of women using NSAIDs and/or opioids. However, we could not definitely determine whether these risks relate to the drugs or to indications for treatment.


Assuntos
Anormalidades Induzidas por Medicamentos/epidemiologia , Acetaminofen/efeitos adversos , Analgésicos não Entorpecentes/efeitos adversos , Analgésicos Opioides/efeitos adversos , Analgésicos/efeitos adversos , Anti-Inflamatórios não Esteroides/efeitos adversos , Fenda Labial/induzido quimicamente , Fissura Palatina/induzido quimicamente , Anormalidades Congênitas/etiologia , Gastrosquise/induzido quimicamente , Acetaminofen/administração & dosagem , Adulto , Analgésicos/administração & dosagem , Analgésicos não Entorpecentes/administração & dosagem , Analgésicos Opioides/administração & dosagem , Anti-Inflamatórios não Esteroides/administração & dosagem , Estudos de Casos e Controles , Fenda Labial/epidemiologia , Fissura Palatina/epidemiologia , Feminino , Gastrosquise/epidemiologia , Humanos , Hipospadia/induzido quimicamente , Hipospadia/epidemiologia , Masculino , Mães , Vigilância da População , Adulto Jovem
20.
Birth Defects Res ; 109(18): 1451-1459, 2017 Nov 01.
Artigo em Inglês | MEDLINE | ID: mdl-28925604

RESUMO

BACKGROUND: Congenital diaphragmatic hernia (CDH) is a relatively frequent and severe malformation. Population-based data on clinical presentation and associated mortality are scarce. We examined a state-wide cohort of infants with a clinically validated diagnosis of CDH to assess their clinical profile, sociodemographic patterns, and infant mortality. METHODS: We identified CDH cases from Utah's statewide population-based surveillance program among the cohort of all pregnancy outcomes (live births, stillbirths, and pregnancy terminations) delivered from 1999 to 2011. Clinical geneticists reviewed all cases and classified them based on etiology (known, unknown), and whether they were isolated, multiple (additional unrelated major malformations or unique minor malformation), or syndromic (genetic, chromosomal). RESULTS: CDH occurred in 1 in 3156 births (227/718,990, or 3.17 per 10,000), with no time trend during the 13 years (p = 0.85). CDH was much more common in males (male to female ratio, 1.72:1; p < 0.01). Clinically, 64% of the cases were isolated, 23% were multiples, and 13% were syndromic. Most cases were live born (90%), with fewer stillbirths (7%) and pregnancy terminations (3%). Overall infant mortality was 32.5%, and varied considerably by underlying etiology (isolated 21%; multiple 44%; syndromic 82%). Prognosis was related to specific clinical findings within each etiologic group (e.g., prematurity, low Apgar score, and intrathoracic liver). CONCLUSION: This information on specific clinical and etiologic factors associated with prognosis can help clinicians and parents in the complex discussions about care planning and management that often occur in a crisis situation, following the diagnosis of CDH, whether prior or after delivery. Birth Defects Research 109:1451-1459, 2017.© 2017 Wiley Periodicals, Inc.


Assuntos
Hérnias Diafragmáticas Congênitas/epidemiologia , Hérnias Diafragmáticas Congênitas/mortalidade , Anormalidades Múltiplas/epidemiologia , Adulto , Estudos de Coortes , Bases de Dados Factuais , Feminino , Idade Gestacional , Humanos , Lactente , Mortalidade Infantil , Recém-Nascido de Baixo Peso , Recém-Nascido , Doenças do Prematuro/epidemiologia , Masculino , Vigilância da População/métodos , Gravidez , Resultado da Gravidez/epidemiologia , Prognóstico , Natimorto/epidemiologia , Utah
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