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1.
MMWR Morb Mortal Wkly Rep ; 69(1): 1-5, 2020 Jan 10.
Artigo em Inglês | MEDLINE | ID: mdl-31917782

RESUMO

In May 2018, a study of birth defects in infants born to women with diagnosed human immunodeficiency virus (HIV) infection in Botswana reported an eightfold increased risk for neural tube defects (NTDs) among births with periconceptional exposure to antiretroviral therapy (ART) that included the integrase inhibitor dolutegravir (DTG) compared with other ART regimens (1). The World Health Organization* (WHO) and the U.S. Department of Health and Human Services† (HHS) promptly issued interim guidance limiting the initiation of DTG during early pregnancy and in women of childbearing age with HIV who desire pregnancy or are sexually active and not using effective contraception. On the basis of additional data, WHO now recommends DTG as a preferred treatment option for all populations, including women of childbearing age and pregnant women. Similarly, the U.S. recommendations currently state that DTG is a preferred antiretroviral drug throughout pregnancy (with provider-patient counseling) and as an alternative antiretroviral drug in women who are trying to conceive.§ Since 1981 and 1994, CDC has supported separate surveillance programs for HIV/acquired immunodeficiency syndrome (AIDS) (2) and birth defects (3) in state health departments. These two surveillance programs can inform public health programs and policy, linkage to care, and research activities. Because birth defects surveillance programs do not collect HIV status, and HIV surveillance programs do not routinely collect data on occurrence of birth defects, the related data have not been used by CDC to characterize birth defects in births to women with HIV. Data from these two programs were linked to estimate overall prevalence of NTDs and prevalence of NTDs in HIV-exposed pregnancies during 2013-2017 for 15 participating jurisdictions. Prevalence of NTDs in pregnancies among women with diagnosed HIV infection was 7.0 per 10,000 live births, similar to that among the general population in these 15 jurisdictions, and the U.S. estimate based on data from 24 states. Successful linking of data from birth defects and HIV/AIDS surveillance programs for pregnancies among women with diagnosed HIV infection suggests that similar data linkages might be used to characterize possible associations between maternal diseases or maternal use of medications, such as integrase strand transfer inhibitors used to manage HIV, and pregnancy outcomes. Although no difference in NTD prevalence in HIV-exposed pregnancies was found, data on the use of integrase strand transfer inhibitors in pregnancy are needed to understand the safety and risks of these drugs during pregnancy.


Assuntos
Infecções por HIV/diagnóstico , Defeitos do Tubo Neural/epidemiologia , Complicações Infecciosas na Gravidez/diagnóstico , Adolescente , Adulto , Antirretrovirais/efeitos adversos , Antirretrovirais/uso terapêutico , Feminino , Infecções por HIV/tratamento farmacológico , Humanos , Recém-Nascido , Gravidez , Complicações Infecciosas na Gravidez/tratamento farmacológico , Estados Unidos/epidemiologia , Adulto Jovem
2.
Birth Defects Res ; 112(2): 162-174, 2020 Jan 15.
Artigo em Inglês | MEDLINE | ID: mdl-31840947

RESUMO

BACKGROUND: There is little recent research on the teratogenicity of maternal anesthesia exposure. We used National Birth Defects Prevention Study data to describe surgical procedures conducted during pregnancy and to estimate the risk of birth defects associated with periconceptional anesthesia exposure. METHODS: We used logistic regression to assess associations between general and local anesthesia for surgery during the periconceptional period and specific birth defects. We calculated odds ratios and 95% confidence intervals for 25 birth defects with at least five exposed cases (11,501 controls, 24,337 cases), adjusted for maternal race/ethnicity, age, body mass index, periconceptional exposure to X-ray, CT, or radionuclide scans, and study site. RESULTS: The most commonly reported procedures were dental, dermatologic, and cervical cerclage procedures, regardless of gestational timing. Overall, 226 case and 73 control women reported periconceptional general anesthesia; 230 case and 89 control women reported periconceptional local anesthesia. Women who reported general or local anesthesia were disproportionately non-Hispanic white and were more likely to report periconceptional opioid use and at least one periconceptional X-ray/CT/radionuclide scan. Women who reported general anesthesia were also more likely to report periconceptional injury. We did not observe any significant associations between either type of anesthesia exposure and the birth defects studied. Odds ratios were generally close to null and imprecise. CONCLUSIONS: Our study population reported a wide range of surgical procedures during pregnancy, requiring both general and local anesthesia. Our findings suggest that periconceptional anesthesia is not strongly associated with the birth defects assessed in this study.

4.
Environ Res ; 179(Pt A): 108716, 2019 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-31546130

RESUMO

BACKGROUND: Congenital limb deficiencies (CLDs) are a relatively common group of birth defects whose etiology is mostly unknown. Recent studies suggest maternal air pollution exposure as a potential risk factor. AIM: To investigate the relationship between ambient air pollution exposure during early pregnancy and offspring CLDs. METHODS: The study population was identified from the National Birth Defects Prevention Study, a population-based multi-center case-control study, and consisted of 615 CLD cases and 5,701 controls with due dates during 1997 through 2006. Daily averages and/or maxima of six criteria air pollutants (particulate matter <2.5 µm [PM2.5], particulate matter <10 µm [PM10], nitrogen dioxide [NO2], sulfur dioxide [SO2], carbon monoxide [CO], and ozone [O3]) were averaged over gestational weeks 2-8, as well as for individual weeks during this period, using data from EPA air monitors nearest to the maternal address. Logistic regression was used to estimate odds ratios (aORs) and 95% confidence intervals (CIs) adjusted for maternal age, race/ethnicity, education, and study center. We estimated aORs for any CLD and CLD subtypes (i.e., transverse, longitudinal, and preaxial). Potential confounding by co-pollutant was assessed by adjusting for one additional air pollutant. Using the single pollutant model, we further investigated effect measure modification by body mass index, cigarette smoking, and folic acid use. Sensitivity analyses were conducted restricting to those with a residence closer to an air monitor. RESULTS: We observed near-null aORs for CLDs per interquartile range (IQR) increase in PM10, PM2.5, and O3. However, weekly averages of the daily average NO2 and SO2, and daily max NO2, SO2, and CO concentrations were associated with increased odds of CLDs. The crude ORs ranged from 1.03 to 1.12 per IQR increase in these air pollution concentrations, and consistently elevated aORs were observed for CO. Stronger associations were observed for SO2 and O3 in subtype analysis (preaxial). In co-pollutant adjusted models, associations with CO remained elevated (aORs: 1.02-1.30); but aORs for SO2 and NO2 became near-null. The aORs for CO remained elevated among mothers who lived within 20 km of an air monitor. The aORs varied by maternal BMI, smoking status, and folic acid use. CONCLUSION: We observed modest associations between CLDs and air pollution exposures during pregnancy, including CO, SO2, and NO2, though replication through further epidemiologic research is warranted.

5.
Am J Med Genet A ; 179(9): 1799-1814, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31294918

RESUMO

Sacral agenesis is a rare birth defect characterized by partial or complete absence of the sacrum. We sought to (a) describe case characteristics, (b) estimate birth prevalence, and (c) identify risk factors for nonsyndromic sacral agenesis using data from the National Birth Defects Prevention Study (NBDPS). The NBDPS was a population-based, case-control study involving pregnancies with estimated dates of delivery from October 1997 through December 2011. We estimated birth prevalence using all NBDPS eligible cases. Using self-reported maternal exposure information, we conducted multivariable logistic regression analysis to identify potential risk factors overall and among women without diabetes. The birth prevalence of sacral agenesis was 2.6/100,000 live births. In the multivariable analysis, multifetal pregnancy, pre-existing Type 1 diabetes, and pre-existing Type 2 diabetes were positively and significantly associated with sacral agenesis, albeit estimates were imprecise. Preexisting Type 1 diabetes was the strongest risk factor (adjusted odds ratio = 96.6, 95% confidence interval = 43.5-214.7). Among women without diabetes, periconceptional smoking was positively and significantly associated with sacral agenesis. Our findings underscore the importance of smoking cessation programs among women planning pregnancy and the importance of better understanding the role of glycemic control before and during pregnancy when designing interventions for primary prevention of sacral agenesis.

6.
Mol Genet Genomic Med ; 7(6): e688, 2019 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-30968606

RESUMO

BACKGROUND: We examined the association between the maternal genotype for celiac disease-associated variants and risk of neural tube defects (NTDs). METHODS: We conducted a case-control study, using data from the National Birth Defects Prevention Study. We evaluated 667 cases (women with an offspring with NTD) and 743 controls (women with an offspring without a birth defect). We classified women as having low, intermediate, or high risk of celiac disease based on human leukocyte antigen (HLA) variants. We used logistic regression to assess the relationship between HLA celiac risk group (low, intermediate, high) and risk of NTDs. Fifteen non-HLA variants (identified from genome-wide association studies of celiac disease) were individually evaluated and modeled additively. RESULTS: There was no association between HLA celiac risk group and NTDs (intermediate vs. low risk: aOR, 1.0; 95% CI, 0.8-1.3; high vs. low risk: aOR, 0.8; 95% CI, 0.5-1.3). Of the fifteen non-HLA variants, we observed five significant associations after accounting for multiple comparisons. Three negative associations were observed with rs10903122, rs13314993, rs13151961 (aOR range: 0.69-0.81), and two positive associations were observed with rs13003464 and rs11221332 (aOR range: 1.27-1.73). CONCLUSION: If confirmed, our results suggest that the maternal variants related to celiac disease may be involved in the risk of NTDs.

7.
J Nutr ; 149(2): 295-303, 2019 02 01.
Artigo em Inglês | MEDLINE | ID: mdl-30689919

RESUMO

BACKGROUND: The risk of neural tube defect (NTD)-affected pregnancies is reduced with adequate folic acid intake during early pregnancy. However, NTDs have been observed among offspring of women with adequate folic acid intake. Some of these women are possibly not absorbing enough folic acid. Because lactase deficiency can lead to poor nutrient absorption, we hypothesized that lactase-deficient women will be at increased risk of having offspring with NTDs. OBJECTIVE: We examined the association between maternal rs4988235 (a lactase deficiency genetic marker) and NTDs in offspring. METHODS: We conducted a case-control study using data from the National Birth Defects Prevention Study, United States, 1997-2009, restricting to non-Hispanic white (NHW) and Hispanic women. Cases were women with an offspring with an NTD (n = 378 NHW, 207 Hispanic), and controls were women with an offspring without a birth defect (n = 461 NHW, 165 Hispanic). Analyses were conducted separately by race/ethnicity, using logistic regression. Women with the CC genotype were categorized as being lactase deficient. To assess potential effect modification, analyses were stratified by lactose intake, folic acid supplementation, dietary folate, and diet quality. RESULTS: Among NHW women, the odds of being lactase deficient were greater among cases compared with controls (OR: 1.37; 95% CI: 1.02, 1.82). Among Hispanic women, the odds of being lactase deficient were significantly lower among cases compared with controls (OR: 0.50, 95% CI: 0.33, 0.77). The association differed when stratified by lactose intake in NHW women (higher odds among women who consumed ≥12 g lactose/1000 kcal) and by dietary folate in Hispanic women (opposite direction of associations). The association did not differ when stratified by folic acid supplementation or diet quality. CONCLUSIONS: Our findings suggest that maternal lactase deficiency is associated with NTDs in offspring. However, we observed opposite directions of effect by race/ethnicity that could not be definitively explained.


Assuntos
Predisposição Genética para Doença , Lactase/genética , Defeitos do Tubo Neural/genética , Polimorfismo de Nucleotídeo Único , Adulto , Estudos de Casos e Controles , Ácido Fólico/administração & dosagem , Ácido Fólico/metabolismo , Deficiência de Ácido Fólico/complicações , Marcadores Genéticos , Genótipo , Hispano-Americanos , Humanos , Lactase/deficiência , Mães , Defeitos do Tubo Neural/enzimologia , Razão de Chances , Estados Unidos , Adulto Jovem
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.

9.
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.

10.
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
12.
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)
13.
Cancer Epidemiol ; 57: 68-73, 2018 12.
Artigo em Inglês | MEDLINE | ID: mdl-30326394

RESUMO

BACKGROUND: Acute lymphocytic leukemia (ALL) and acute myeloid leukemia (AML) among DS children have been studied extensively using data from clinical trials or institutional reports. The purpose of this study was to link population-based cancer and birth defects data to evaluate characteristics and survival of children with acute leukemia according to the presence of DS or other birth defects. METHODS: ALL and AML cases diagnosed between 1983 and 2012 among children aged 0-14 years were obtained from the New York State Cancer Registry. Birth defect status (DS, other birth defects, or no birth defects) was determined by linking with birth defects data. Associations between birth defect status and demographic characteristics were evaluated using contingency table analysis. Ten-year survival was calculated by birth defect status and other potential prognostic factors. Cox proportional hazards regression analysis was also performed. RESULTS: Among 2941 ALL children, 1.6% had DS, 3.8% had other birth defects, and 94.5% had no birth defects. Birth defect status was significantly associated with age at ALL diagnosis. Survivals were similar among three groups. Among 563 AML children, 11.0% had DS, 6.0% had other birth defects, and 83.0% had no birth defects. Children with DS were more likely to be diagnosed with AML at a younger age and showed the best survival. CONCLUSION: Age at leukemia diagnosis was significantly associated with the birth defect status. Comparable survival was observed for ALL children. However, AML children with DS demonstrated superior survival compared to children with other birth defects or no birth defects.


Assuntos
Anormalidades Congênitas , Síndrome de Down/complicações , Leucemia Mieloide Aguda/mortalidade , Leucemia-Linfoma Linfoblástico de Células Precursoras/mortalidade , Adolescente , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , New York
14.
Birth Defects Res ; 110(19): 1433-1442, 2018 11 15.
Artigo em Inglês | MEDLINE | ID: mdl-30260586

RESUMO

BACKGROUND: There are limited data on the relationship between antihypertensive medication use in early pregnancy and risk of birth defects. METHODS: Using data from the National Birth Defects Prevention Study, we examined associations between specific antihypertensive medication classes and 28 noncardiac birth defects. We analyzed self-reported data on 17,038 case and 11,477 control pregnancies with estimated delivery dates during 1997-2011. We used multivariable logistic regression to estimate odds ratios (ORs) and 95% confidence intervals, adjusted for maternal age, race/ethnicity, body mass index, parity, pregestational diabetes, and study site, for associations between individual birth defects and antihypertensive medication use during the first trimester of pregnancy. We compared risk among women reporting early pregnancy antihypertensive medication use to normotensive women. RESULTS: Hypertensive women who reported early pregnancy antihypertensive medication use were more likely to be at least 35 years old, non-Hispanic Black, obese, multiparous, and to report pregestational diabetes than normotensive women. Compared to normotensive women, early pregnancy antihypertensive medication use was associated with increased risk of small intestinal atresia (adjusted OR 2.4, 95% CI 1.2-4.7) and anencephaly (adjusted OR 1.9, 95% CI 1.0-3.5). Risk of these defects was not specific to any particular medication class. CONCLUSIONS: Maternal antihypertensive medication use was not associated with the majority of birth defects we analyzed, but was associated with an increased risk for some birth defects. Because we cannot entirely rule out confounding by the underlying hypertension and most ORs were based on small numbers, the increased risks observed should be interpreted with caution.


Assuntos
Anti-Hipertensivos/efeitos adversos , Anormalidades Congênitas/epidemiologia , Vigilância da População/métodos , Anormalidades Induzidas por Medicamentos/etiologia , Adulto , Anencefalia/etiologia , Estudos de Casos e Controles , Anormalidades Congênitas/classificação , Feminino , Humanos , Recém-Nascido de Baixo Peso , Recém-Nascido , Atresia Intestinal/etiologia , Intestino Delgado/anormalidades , Modelos Logísticos , Masculino , Mães , Razão de Chances , Gravidez , Efeitos Tardios da Exposição Pré-Natal/induzido quimicamente , Fatores de Risco , Autorrelato
15.
Birth Defects Res ; 110(19): 1419-1432, 2018 11 15.
Artigo em Inglês | MEDLINE | ID: mdl-30230717

RESUMO

BACKGROUND: Cerebellar hypoplasia is a rare disorder of cerebellar formation in which the cerebellum is not completely developed, smaller than it should be, or completely absent. The prevalence of cerebellar hypoplasia at birth is unknown, and little is known about epidemiological risk factors. Using data from the National Birth Defects Prevention Study (NBDPS), a population-based, case-control study, we analyzed clinical features and potential risk factors for nonsyndromic cerebellar hypoplasia. METHODS: The NBDPS included pregnancies with estimated delivery dates from 1997-2011. We described clinical features of cerebellar hypoplasia cases from the study area. We explored risk factors for cerebellar hypoplasia (case characteristics, demographics, pregnancy characteristics, maternal health conditions, maternal medication use, and maternal behavioral exposures) by comparing cases to non-malformed live born control infants. We calculated crude odds ratios (ORs) and 95% confidence intervals using logistic regression models. RESULTS: We identified 87 eligible cerebellar hypoplasia cases and 55 mothers who participated in the NBDPS. There were no differences in clinical features between interviewed and non-interviewed cases. Cerebellar hypoplasia cases were more likely than controls to be from a multiple pregnancy, be born preterm, and have low birth weight. Cerebellar hypoplasia cases were more likely to be born in or after 2005, as opposed to earlier in NBDPS. We found elevated ORs that were not statistically significant for maternal use of vasoactive medications, non-Hispanic black mothers, and mothers with a history of hypertension. CONCLUSIONS: Although unadjusted, our findings from a large, population-based study can contribute to new hypotheses regarding the etiology of cerebellar hypoplasia.


Assuntos
Cerebelo/anormalidades , Malformações do Sistema Nervoso/epidemiologia , Vigilância da População/métodos , Estudos de Casos e Controles , Cerebelo/fisiopatologia , Anormalidades Congênitas/classificação , Anormalidades Congênitas/epidemiologia , Deficiências do Desenvolvimento/epidemiologia , Feminino , Humanos , Recém-Nascido de Baixo Peso , Recém-Nascido , Modelos Logísticos , Masculino , Razão de Chances , Gravidez , Fatores de Risco
16.
Matern Child Health J ; 22(2): 237-246, 2018 02.
Artigo em Inglês | MEDLINE | ID: mdl-29124624

RESUMO

Background Small for gestational age (SGA) birth is associated with poor long-term health outcomes. It is unclear whether maternal antihypertensive medication increases risk of SGA independently of maternal hypertension. Methods We analyzed associations between maternal hypertension and antihypertensive medication use and SGA among non-malformed singleton controls in the National Birth Defects Prevention Study. We defined SGA as birthweight < 10th percentile for a given gestational age, sex, race/ethnicity, and parity. We included 1045 SGA and 10,019 non-SGA births. We used logistic regression to calculate adjusted odds ratios (AORs) and 95% confidence intervals (CIs). We assessed interaction between hypertension, antihypertensive use, and maternal race/ethnicity and age. Results Overall, 122 (11.7%) SGA and 892 (8.9%) non-SGA mothers reported hypertension and 21 (2.0%) SGA and 154 (1.5%) non-SGA mothers reported antihypertensive use. The most commonly reported medications were centrally-acting antiadrenergics, ß-blockers, calcium channel blockers, and diuretics. Compared to normotensive pregnancies, maternal hypertension, regardless of treatment (AOR, 1.49 [95% CI, 1.20, 1.86]), and untreated maternal hypertension [AOR, 1.46 (95% CI, 1.15, 1.86)] were associated with SGA. We observed a positive, but not significant, association between antihypertensive use and SGA. SGA risk varied by maternal race/ethnicity, being highest among Hispanic mothers, and age, being highest among mothers ≥ 35 years, but statistical tests for interaction were not significant. Conclusions Consistent with the literature, our findings suggest that maternal hypertension slightly increases SGA risk. We did not observe an appreciably increased SGA risk associated with antihypertensive medication use beyond that of the underlying maternal hypertension.


Assuntos
Anti-Hipertensivos/uso terapêutico , Hipertensão Induzida pela Gravidez/tratamento farmacológico , Hipertensão/tratamento farmacológico , Recém-Nascido Pequeno para a Idade Gestacional , Idade Materna , Mães , Adulto , Anti-Hipertensivos/efeitos adversos , Estudos de Casos e Controles , Feminino , Idade Gestacional , Humanos , Hipertensão/epidemiologia , Hipertensão Induzida pela Gravidez/epidemiologia , Recém-Nascido , Pré-Eclâmpsia/epidemiologia , Gravidez , Resultado da Gravidez/epidemiologia , Estudos Retrospectivos , Fatores Socioeconômicos , Resultado do Tratamento
17.
Eur J Med Genet ; 61(3): 145-151, 2018 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-29174092

RESUMO

Prune belly syndrome (PBS), also known as Eagle-Barrett syndrome, is a rare congenital disorder characterized by absence or hypoplasia of the abdominal wall musculature, urinary tract anomalies, and cryptorchidism in males. The etiology of PBS is largely unresolved, but genetic factors are implicated given its recurrence in families. We examined cases of PBS to identify novel pathogenic copy number variants (CNVs). A total of 34 cases (30 males and 4 females) with PBS identified from all live births in New York State (1998-2005) were genotyped using Illumina HumanOmni2.5 microarrays. CNVs were prioritized if they were absent from in-house controls, encompassed ≥10 consecutive probes, were ≥20 Kb in size, had ≤20% overlap with common variants in population reference controls, and had ≤20% overlap with any variant previously detected in other birth defect phenotypes screened in our laboratory. We identified 17 candidate autosomal CNVs; 10 cases each had one CNV and four cases each had two CNVs. The CNVs included a 158 Kb duplication at 4q22 that overlaps the BMPR1B gene; duplications of different sizes carried by two cases in the intron of STIM1 gene; a 67 Kb duplication 202 Kb downstream of the NOG gene, and a 1.34 Mb deletion including the MYOCD gene. The identified rare CNVs spanned genes involved in mesodermal, muscle, and urinary tract development and differentiation, which might help in elucidating the genetic contribution to PBS. We did not have parental DNA and cannot identify whether these CNVs were de novo or inherited. Further research on these CNVs, particularly BMP signaling is warranted to elucidate the pathogenesis of PBS.


Assuntos
Variações do Número de Cópias de DNA , Síndrome do Abdome em Ameixa Seca/genética , Análise de Sequência de DNA/métodos , Adulto , Feminino , Genótipo , Humanos , Recém-Nascido , Masculino , Fenótipo , Adulto Jovem
18.
PLoS One ; 12(12): e0188168, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-29216221

RESUMO

BACKGROUND: Ebstein anomaly (EA) is a rare congenital defect characterized by apical displacement of the septal tricuspid leaflets and atrialization of the right ventricle. The etiology of EA is unclear; however, recurrence in families and the association of EA with genetic syndromes and copy number variants (CNVs) suggest a genetic component. OBJECTIVE: We performed a population-based study to search for recurrent and novel CNVs in a previously unreported set of EA cases. METHODS: We genotyped 60 EA cases identified from all live births (2,891,076) from selected California counties (1991-2010) using the Illumina HumanOmni2.5-8 array. We identified 38 candidate CNVs in 28 (46%) cases and prioritized and validated 11 CNVs based on the genes included. RESULTS: Five CNVs (41%) overlapped or were close to genes involved in early myocardial development, including NODAL, PDLIM5, SIX1, ASF1A and FGF12. We also replicated a previous association of EA with CNVs at 1p34.1 and AKAP12. Finally, we identified four CNVs overlapping or in close proximity to the transcription factors HES3, TRIM71, CUX1 and EIF4EBP2. CONCLUSIONS: This study supports the relationship of genetic factors to EA and demonstrates that defects in cardiomyocytes and myocardium differentiation may play a role. Abnormal differentiation of cardiomyocytes and how genetic factors contribute should be examined for their association with EA.


Assuntos
Variações do Número de Cópias de DNA , Anomalia de Ebstein/genética , Adolescente , Adulto , Mapeamento Cromossômico , Feminino , Genótipo , Humanos , Recém-Nascido , Masculino , Idade Materna , Adulto Jovem
20.
Birth Defects Res ; 109(18): 1442-1450, 2017 Nov 01.
Artigo em Inglês | MEDLINE | ID: mdl-28905502

RESUMO

BACKGROUND: We evaluated selected birth defects over a 9-year period to assess prevalence trends by selected maternal and infant factors. METHODS: Data were pooled from 11 population-based birth defects surveillance programs in the United States for children born between 1999 and 2007. Overall prevalence, as well as 3-year interval prevalence, was calculated for 26 specific birth defects, stratified by maternal age, maternal race/ethnicity, and infant sex. Average annual percent change (AAPC) was calculated for each birth defect. Poisson regression was used to determine change in AAPC, and joinpoint regression to identify breakpoints and changes in slope for prevalence of each defect over time. RESULTS: Between 1999 and 2001 and 2005 and 2007, four birth defects increased by 10% or more: coarctation of the aorta (17%), gastroschisis (83%), omphalocele (11%), and Down syndrome (10%). Among mothers <20 years of age, the gastroschisis AAPC increased 10.1% overall and, cross-classified by maternal race/ethnicity, the AAPC for mothers <20 years increased 9.2%, 25.7%, and 7.7% among non-Hispanic white (NHW), non-Hispanic black (NHB), and Hispanic mothers, respectively. A small increase in Down syndrome (AAPC 4.4%) was found for NHB mothers ≥35 years. CONCLUSION: No significant trends in prevalence were identified for most birth defects. Gastroschisis prevalence increased significantly among NHW and NHB mothers <20 years of age, with the greatest increases in NHB mothers. Prevalence of Down syndrome among NHB mothers ≥35 years also increased slightly. Stratified results may suggest avenues of research in birth defect etiology and in evaluating prevention efforts. Birth Defects Research 109:1442-1450, 2017.© 2017 Wiley Periodicals, Inc.


Assuntos
Anormalidades Congênitas/epidemiologia , Anormalidades Congênitas/prevenção & controle , Coartação Aórtica/epidemiologia , Coartação Aórtica/prevenção & controle , Síndrome de Down/epidemiologia , Síndrome de Down/prevenção & controle , Grupos Étnicos , Feminino , Gastrosquise/epidemiologia , Gastrosquise/prevenção & controle , Hérnia Umbilical/epidemiologia , Hérnia Umbilical/prevenção & controle , Humanos , Masculino , Idade Materna , Mães , Vigilância da População/métodos , Prevalência , Estudos Retrospectivos , Fatores de Risco , Fatores Sexuais , Estados Unidos
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