456 results on '"Nembhard, Wendy N."'
Search Results
152. Next steps for birth defects research and prevention: The birth defects study to evaluate pregnancy exposures (BD-STEPS).
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Tinker, Sarah C., Carmichael, Suzan L., Anderka, Marlene, Browne, Marilyn L., Caspers Conway, Kristin M., Meyer, Robert E., Nembhard, Wendy N., Olney, Richard S., and Reefhuis, Jennita
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Background The Birth Defects Study To Evaluate Pregnancy exposureS (BD-STEPS) is a population-based, multi-Center case-control study of modifiable risk factors for selected birth defects in the United States. BD-STEPS is the second major research effort of the Centers for Birth Defects Research and Prevention, which extends and expands the initial research effort, the National Birth Defects Prevention Study (NBDPS). Methods BD-STEPS focuses on 17 categories of structural birth defects selected based on severity, prevalence, consistent ascertainment, and previous findings that warrant additional research. Cases are identified through existing birth defects surveillance programs; controls are from vital records or birth hospital logs from the same catchment area. BD-STEPS uses a standardized computer-assisted telephone interview to collect information from case and control mothers on topics including demographics, health conditions, and medication use. Following the maternal interview, selected Centers request permission to sample residual newborn screening blood spots from state repositories for genetic analyses. New components planned for BD-STEPS include linkages with external datasets and use of online questionnaires to collect in-depth information on selected exposures. Results BD-STEPS extends NBDPS by continuing to collect data on many exposures that were assessed in NBDPS, allowing data from both studies to be combined and providing an unprecedented sample size to analyze rare exposures. BD-STEPS expands upon NBDPS by collecting more detailed information on existing exposures as well as new exposures. Conclusion The goal of BD-STEPS is to provide women and healthcare providers with information they need to make decisions to promote the healthiest pregnancy possible. Birth Defects Research (Part A) 103:733-740, 2015. © 2015 Wiley Periodicals, Inc. [ABSTRACT FROM AUTHOR]
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- 2015
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153. Racial/Ethnic Differences in Survival of United States Children with Birth Defects: A Population-Based Study.
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Ying Wang, Gang Liu, Canfield, Mark A., Mai, Cara T., Gilboa, Suzanne M., Meyer, Robert E., Anderka, Marlene, Copeland, Glenn E., Kucik, James E., Nembhard, Wendy N., and Kirby, Russell S.
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Objectives To examine racial/ethnic-specific survival of children with major birth defects in the US. Study design We pooled data on live births delivered during 1999-2007 with any of 21 birth defects from 12 population-based birth defects surveillance programs. We used the Kaplan-Meier method to calculate cumulative survival probabilities and Cox proportional hazards models to estimate mortality risk. Results For most birth defects, there were small-to-moderate differences in neonatal (<28 days) survival among racial/ethnic groups. However, compared with children born to non-Hispanic white mothers, postneonatal infant (28 days to <1 year) mortality risk was significantly greater among children born to non-Hispanic black mothers for 13 of 21 defects (hazard ratios [HRs] 1.3-2.8) and among children born to Hispanic mothers for 10 of 21 defects (HRs 1.3-1.7). Compared with children born to non-Hispanic white mothers, a significantly increased childhood (=8 years) mortality risk was found among children born to Asian/Pacific Islander mothers for encephalocele (HR 2.6), tetralogy of Fallot, and atrioventricular septal defect (HRs 1.6-1.8) and among children born to American Indian/Alaska Native mothers for encephalocele (HR 2.8), whereas a significantly decreased childhood mortality risk was found among children born to Asian/Pacific Islander mothers for cleft lip with or without cleft palate (HR 0.6). Conclusion Children with birth defects born to non-Hispanic black and Hispanic mothers carry a greater risk of mortality well into childhood, especially children with congenital heart defect. Understanding survival differences among racial/ethnic groups provides important information for policy development and service planning. [ABSTRACT FROM AUTHOR]
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- 2015
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154. Patterns of first‐year survival among infants with selected congenital anomalies in Texas, 1995–1997
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Nembhard, Wendy N., primary, Waller, D. Kim, additional, Sever, Lowell E., additional, and Canfield, Mark A., additional
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- 2001
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155. Residential Pesticide Use Is Associated With Children's Respiratory Symptoms.
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Xiaohui Xu, Nembhard, Wendy N., Haidong Kan, Becker, Alan, and Talbott, Evelyn O.
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RESPIRATORY disease risk factors , *CHILDREN'S health , *CONFIDENCE intervals , *EPIDEMIOLOGY , *PESTICIDES , *LOGISTIC regression analysis , *DATA analysis , *ENVIRONMENTAL exposure , *SECONDARY analysis , *DATA analysis software , *DESCRIPTIVE statistics - Abstract
The article discusses whether residential pesticide use is associated with an increase use of self reported respiratory syptoms in children and whether the method and location of residential pesticide application effects that association. It reflects on various methods including study population, covariates and statistical analysis. It mentions that the study finds that the pesticide use in the home overall was weakly associated with respiratory symptoms in the United States in children below 18 years of age.It suggests that public health intervention with regard to respiratory health effects of residential pesticides should focus not only on types of pesticides applied but also on the location and method of pesticide application.
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- 2012
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156. Urinary trichlorophenol levels and increased risk of attention deficit hyperactivity disorder among US school-aged children.
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Xiaohui Xu, Nembhard, Wendy N., Kan, Haidong, Greg Kearney, Zhi-Jiang Zhang, and Talbott, Evelyn O.
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Background Trichlorophenols (TCPs) are organochlorine compounds which are ubiquitous in the environment and well known for their carcinogenic effects. However, little is known about their neurotoxicity in humans. Objectives Our goal was to examine the association between body burden of TCPs (ie, 2,4,5-TCP and 2,4,6- TCP) and attention deficit hyperactivity disorder (ADHD). Methods We calculated ORs and 95% CIs from logistic regression analyses using data from the 1999-2004 National Health and Nutrition Examination Survey (NHANES) to evaluate the association between urinary TCPs and parent-reported ADHD among 2546 children aged 6-15 years. Results Children with low levels (<3.58 μg/g) and high levels (≥3.58 μg/g) of urinary 2,4,6-TCP had a higher risk of parent-reported ADHD compared to children with levels below the limit of detection (OR 1.54, 95% CI 0.97 to 2.43 and OR 1.77, 95% CI 1.18 to 2.66, respectively; p for trend=0.006) after adjusting for covariates. No association was found between urinary 2,4,5-TCP and parent-reported ADHD. Conclusion Exposure to TCP may increase the risk of behavioural impairment in children. The potential neurotoxicity of these chemicals should be considered in public health efforts to reduce environmental exposures/ contamination, especially in countries where organochlorine pesticides are still commonly used. [ABSTRACT FROM AUTHOR]
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- 2011
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157. Maternal Exposure to Disinfection By-Products and Risk of Hypospadias in the National Birth Defects Prevention Study (2000–2005).
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Zaganjor, Ibrahim, Luben, Thomas J., Desrosiers, Tania A., Keil, Alexander P., Engel, Lawrence S., Michalski, Adrian M., Carmichael, Suzan L., Nembhard, Wendy N., Shaw, Gary M., Reefhuis, Jennita, Yazdy, Mahsa M., Langlois, Peter H., Feldkamp, Marcia L., Romitti, Paul A., and Olshan, Andrew F.
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- 2020
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158. A Multicountry Analysis of Prevalence and Mortality among Neonates and Children with Bladder Exstrophy.
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Kancherla, Vijaya, Tandaki, Lucita, Sundar, Manasvi, Lux, Anke, Bakker, Marian K, Bergman, Jorieke EH, Bermejo-Sánchez, Eva, Canfield, Mark A, Feldkamp, Marcia L, Groisman, Boris, Hurtado-Villa, Paula, Källén, Karin, Landau, Danielle, Lelong, Nathalie, Lopez-Camelo, Jorge, Mastroiacovo, Pierpaolo, Morgan, Margery, Mutchinick, Osvaldo M, Nance, Amy E, and Nembhard, Wendy N
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PUBLIC health surveillance , *POISSON distribution , *RETROSPECTIVE studies , *DISEASE prevalence , *PERINATAL death , *POPULATION geography , *DESCRIPTIVE statistics , *LONGITUDINAL method , *BLADDER exstrophy , *CONFIDENCE intervals , *ABORTION - Abstract
Objective Bladder exstrophy (BE) is a rare but severe birth defect affecting the lower abdominal wall and genitourinary system. The objective of the study is to examine the total prevalence, trends in prevalence, and age-specific mortality among individuals with BE. Study Design We conducted a retrospective cohort study. Data were analyzed from 20 birth defects surveillance programs, members of the International Clearinghouse for Birth Defects Surveillance and Research in 16 countries. Live births, stillbirths, and elective terminations of pregnancy for fetal anomaly (ETOPFA) diagnosed with BE from 1974 to 2014. Pooled and program-specific prevalence of BE per 100,000 total births was calculated. The 95% confidence intervals (CI) for prevalence were estimated using Poisson approximation of binomial distribution. Time trends in prevalence of BE from 2000 to 2014 were examined using Poisson regression. Proportion of deaths among BE cases was calculated on the day of birth, day 2 to 6, day 7 to 27, day 28 to 364, 1 to 4 years, and ≥5 years. Mortality analysis was stratified by isolated, multiple, and syndromic case status. Results The pooled total prevalence of BE was 2.58 per 100,000 total births (95% CI = 2.40, 2.78) for study years 1974 to 2014. Prevalence varied over time with a decreasing trend from 2000 to 2014. The first-week mortality proportion was 3.5, 17.3, and 14.6% among isolated, multiple, and syndromic BE cases, respectively. The majority of first-week mortality occurred on the first day of life among isolated, multiple, and syndromic BE cases. The proportion of first-week deaths was higher among cases reported from programs in Latin America where ETOPFA services were not available. Conclusion Prevalence of BE varied by program and showed a decreasing trend from 2000 to –2014. Mortality is a concern among multiple and syndromic cases, and a high proportion of deaths among cases occurred during the first week of life. Key Points Total prevalence of BE was 2.58 per 100,000 births. Prevalence decreased from 2000 to 2014. The first-week mortality was 9.3%. [ABSTRACT FROM AUTHOR]
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- 2024
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159. Abstract 11614: Quality of Life and Disability Status Among Young Adults With Congenital Heart Defects, Congenital Heart Survey to Recognize Outcomes, Needs, and Wellbeing, 2016-2019
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Downing, Karrie F, Oster, Matthew, Andrews, Jennifer, Klewer, Scott E, Nembhard, Wendy N, and Farr, Sherry
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Introduction:Existing studies on quality of life (QOL) and disabilities among adults with congenital heart defects (CHD) have been limited to those in cardiac care. We aimed to evaluate QOL and disability status among a population-based sample of young adults with CHD from 3 regions of the US.Methods:We used 2016-2019 Congenital Heart Survey To Recognize Outcomes, Needs, and wellbeinG (CH STRONG) cross-sectional survey data from adults with CHD born during 1980-1997 in Arizona, Arkansas, and metro-Atlanta. Patient-Reported Outcomes Measurement Information System 10 questions were used for physical and mental QOL, with component scores transformed to T-score distributions and standardized to the general US population. Disability status among CH STRONG participants, based on six American Community Survey (ACS) questions, was compared to that of similarly aged ACS respondents from the same states. Likelihood Ratio ?2tests, accounting for clustering by site, assessed differences by CHD severity and by disability status.Results:Of the 1,514 CH STRONG participants, mean t-scores for physical (52) and mental QOL (50) were similar to that of the general population (50) and did not differ by CHD severity (?2p>0.05; Fig 1). About 39% of CH STRONG participants reported ?1 disability compared to 7% in ACS, and their most commonly-reported disability was cognitive difficulty (28%; Fig 2). CH STRONG participants with disabilities had similar QOL to those without (both ?2p>0.05).Conclusions:Young adults with CHD had similar QOL to that of the general US population, despite experiencing more disabilities. Among adults with CHD, having disabilities was not associated with reduced QOL.
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- 2019
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160. Abstract 11112: Rationale and Design of Ch Strong: Congenital Heart Survey to Recognize Outcomes, Needs, and Well-beinG
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Farr, Sherry L, Klewer, Scott E, Nembhard, Wendy N, Alter, Caroline, Downing, Karrie F, Andrews, Jennifer G, Collins, R T, Glidewell, Jill, Benavides, Argelia, Goudie, Anthony, Riehle-Colarusso, Tiffany, Overman, Lindsey, Riser, Aspen, and Oster, Matthew E
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Introduction:Studies of long-term outcomes among adults with congenital heart defects (CHD) have typically focused on those receiving care at specialty centers, limiting generalizability. The objective of the Congenital Heart Survey To Recognize Outcomes, Needs, and well-beinG (CH STRONG) was to assess comorbidities, healthcare utilization, quality of life, and social and educational outcomes, from a U.S. population-based sample of young adults living with CHD.Methods:Individuals with CHD born between 1980 and 1997 were identified using active, population-based birth defects registries from three U.S. locations (Arkansas, Arizona, and Atlanta, GA) that were linked to death records through 2015. Individuals with current contact information were mailed survey packages from October 2016 through January 2019. Chi square tests, accounting for clustering by site, were used to compare respondents to non-respondents.Results:Sites obtained contact information for 74.6% of the 9,312 eligible individuals alive at recruitment (Figure). Of those, 1,656 returned surveys, either online (18.1%) or on paper (81.9%), for a response rate of 23.9% (AR: 18.3%; AZ: 30.7%; Atlanta: 28.0%; p-value < 0.01). For 20.0% of respondents, a proxy (e.g., parent) completed the survey; among those, 63.9% reported the individual with CHD was mentally unable. Among respondents and non-respondents, respectively, sex (female: 54.0% and 47.3%), birth year (1986-90: 30.1% and 28.0%; 1991-1997: 56.0% and 57.5%), maternal race/ethnicity (non-Hispanic white: 74.3% and 63.0%), CHD severity (severe: 33.8% and 27.9%), presence of Down syndrome (9.2% and 8.9%), and additional non-cardiac defects (43.8% and 50.5%) did not differ significantly (p-value > 0.05 for all).Conclusions:CH STRONG will provide the first multi-site population-based findings on long-term outcomes among the growing population of U.S. adults with CHD.
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- 2019
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161. A Multicountry Analysis of Prevalence and Mortality among Neonates and Children with Bladder Exstrophy
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Pontificia Universidad Javeriana. Facultad de Medicina. Instituto de Genética Humana. Grupo de investigación Instituto de Genética Humana, Zarante, Ignacio, Kancherla, Vijaya, Tandaki, Lucita, Sundar, Manasvi, Lux, Anke, Bakker, Marian K., Bergman, Jorieke EH., Bermejo-Sánchez, Eva, Canfield, Mark A., Feldkamp, Marcia L., Groisman, Boris, Hurtado-Villa, Paula, Källén, Karin, Landau, Danielle, Lelong, Nathalie, Lopez-Camelo, Jorge, Mastroiacovo, Pierpaolo, Morgan, Margery, Mutchinick, Osvaldo M., Nance, Amy E., Nembhard, Wendy N., Pierini, Anna, Šípek, Antonin, Stallings, Erin B., Szabova, Elena, Wertelecki, Wladimir, Rissmann, Anke, Pontificia Universidad Javeriana. Facultad de Medicina. Instituto de Genética Humana. Grupo de investigación Instituto de Genética Humana, Zarante, Ignacio, Kancherla, Vijaya, Tandaki, Lucita, Sundar, Manasvi, Lux, Anke, Bakker, Marian K., Bergman, Jorieke EH., Bermejo-Sánchez, Eva, Canfield, Mark A., Feldkamp, Marcia L., Groisman, Boris, Hurtado-Villa, Paula, Källén, Karin, Landau, Danielle, Lelong, Nathalie, Lopez-Camelo, Jorge, Mastroiacovo, Pierpaolo, Morgan, Margery, Mutchinick, Osvaldo M., Nance, Amy E., Nembhard, Wendy N., Pierini, Anna, Šípek, Antonin, Stallings, Erin B., Szabova, Elena, Wertelecki, Wladimir, and Rissmann, Anke
162. Hypospadias Prevalence and Trends in International Birth Defect Surveillance Systems, 1980–2010
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Pontificia Universidad Javeriana. Facultad de Medicina. Instituto de Genética Humana. Grupo de investigación Instituto de Genética Humana, Pontificia Universidad Javeriana. Facultad de Medicina. Departamento de Cirugía y Especialidades. Urología, Zarante, Ignacio, Fernandez, Nicolas, Yu, Xiao, Nassar, Natasha, Mastroiacovo, Pierpaolo, Canfield, Mark, Groisman, Boris, Bermejo-Sánchez, Eva, Ritvanen, Annukka, Kiuru-Kuhlefelt, Sonja, Benavides, Adriana, Sipek, Antonin, Pierini, Anna, Bianchi, Fabrizio, Källén, Karin, Gatt, Miriam, Morgan, Margery, Tucker, David, Canessa, M. Aaurora, Gajardo, Rosa, Mutchinick, Osvaldo M., Szabova, Elena, Csáky-Szunyogh, Melinda, Tagliabue, Giovanna, Cragan, Janet D., Nembhard, Wendy N., Rissmann, Anke, Goetz, Dorit, Bower, Carol, Baynam, Gareth, Lowry, R. Brian, Leon, Juan A., Luo, Wei, Rouleau, Jocelyn, Amar, Emmanuelle, Dastgiri, Saeed, Contiero, Paolo, Martínez-de-Villarreal, Laura E., Borman, Barry, Bergman, J.E.H., de Walle, Hermien E.K., Hobbs, Charlotte A., Nance, Amy E., Agopian, A. J., Pontificia Universidad Javeriana. Facultad de Medicina. Instituto de Genética Humana. Grupo de investigación Instituto de Genética Humana, Pontificia Universidad Javeriana. Facultad de Medicina. Departamento de Cirugía y Especialidades. Urología, Zarante, Ignacio, Fernandez, Nicolas, Yu, Xiao, Nassar, Natasha, Mastroiacovo, Pierpaolo, Canfield, Mark, Groisman, Boris, Bermejo-Sánchez, Eva, Ritvanen, Annukka, Kiuru-Kuhlefelt, Sonja, Benavides, Adriana, Sipek, Antonin, Pierini, Anna, Bianchi, Fabrizio, Källén, Karin, Gatt, Miriam, Morgan, Margery, Tucker, David, Canessa, M. Aaurora, Gajardo, Rosa, Mutchinick, Osvaldo M., Szabova, Elena, Csáky-Szunyogh, Melinda, Tagliabue, Giovanna, Cragan, Janet D., Nembhard, Wendy N., Rissmann, Anke, Goetz, Dorit, Bower, Carol, Baynam, Gareth, Lowry, R. Brian, Leon, Juan A., Luo, Wei, Rouleau, Jocelyn, Amar, Emmanuelle, Dastgiri, Saeed, Contiero, Paolo, Martínez-de-Villarreal, Laura E., Borman, Barry, Bergman, J.E.H., de Walle, Hermien E.K., Hobbs, Charlotte A., Nance, Amy E., and Agopian, A. J.
163. A multi-country study of prevalence and early childhood mortality among children with omphalocele
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Pontificia Universidad Javeriana. Facultad de Medicina. Instituto de Genética Humana. Grupo de investigación Instituto de Genética Humana, Zarante, Ignacio, Nembhard, Wendy N., Bergman, Jorieke E. H., Politis, Maria D., Arteaga-Vázquez, Jazmín, Bermejo-Sánchez, Eva, Canfield, Mark A., Cragan, Janet D., Dastgiri, Saeed, de Walle, Hermien E. K., Feldkamp, Marcia L., Nance, Amy, Gatt, Miriam, Groisman, Boris, Hurtado-Villa, Paula, Kallén, Kärin, Landau, Danielle, Lelong, Nathalie, Lopez-Camelo, Jorge, Martinez, Laura, Morgan, Margery, Pierini, Anna, Rissmann, Anke, Šípek, Antonin, Szabova, Elena, Tagliabue, Giovanna, Wertelecki, Wladimir, Bakker, Marian K., Kancherla, Vijaya, Mastroiacovo, Pierpaolo, Pontificia Universidad Javeriana. Facultad de Medicina. Instituto de Genética Humana. Grupo de investigación Instituto de Genética Humana, Zarante, Ignacio, Nembhard, Wendy N., Bergman, Jorieke E. H., Politis, Maria D., Arteaga-Vázquez, Jazmín, Bermejo-Sánchez, Eva, Canfield, Mark A., Cragan, Janet D., Dastgiri, Saeed, de Walle, Hermien E. K., Feldkamp, Marcia L., Nance, Amy, Gatt, Miriam, Groisman, Boris, Hurtado-Villa, Paula, Kallén, Kärin, Landau, Danielle, Lelong, Nathalie, Lopez-Camelo, Jorge, Martinez, Laura, Morgan, Margery, Pierini, Anna, Rissmann, Anke, Šípek, Antonin, Szabova, Elena, Tagliabue, Giovanna, Wertelecki, Wladimir, Bakker, Marian K., Kancherla, Vijaya, and Mastroiacovo, Pierpaolo
164. Associations between birth defects with neural crest cell origins and pediatric embryonal tumors.
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Wong, Eugene C., Lupo, Philip J., Desrosiers, Tania A., Nichols, Hazel B., Smith, Susan M., Poole, Charles, Canfield, Mark, Shumate, Charles, Chambers, Tiffany M., Schraw, Jeremy M., Nembhard, Wendy N., Yazdy, Mahsa M., Nestoridi, Eirini, Janitz, Amanda E., and Olshan, Andrew F.
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NEURAL crest , *HUMAN abnormalities , *TUMORS in children , *CONGENITAL heart disease , *HIRSCHSPRUNG'S disease - Abstract
Background: There are few assessments evaluating associations between birth defects with neural crest cell developmental origins (BDNCOs) and embryonal tumors, which are characterized by undifferentiated cells having a molecular profile similar to neural crest cells. The effect of BDNCOs on embryonal tumors was estimated to explore potential shared etiologic pathways and genetic origins. Methods: With the use of a multistate, registry‐linkage cohort study, BDNCO–embryonal tumor associations were evaluated by generating hazard ratios (HRs) and 95% confidence intervals (CIs) with Cox regression models. BDNCOs consisted of ear, face, and neck defects, Hirschsprung disease, and a selection of congenital heart defects. Embryonal tumors included neuroblastoma, nephroblastoma, and hepatoblastoma. Potential HR modification (HRM) was investigated by infant sex, maternal race/ethnicity, maternal age, and maternal education. Results: The risk of embryonal tumors among those with BDNCOs was 0.09% (co‐occurring n = 105) compared to 0.03% (95% CI, 0.03%–0.04%) among those without a birth defect. Children with BDNCOs were 4.2 times (95% CI, 3.5–5.1 times) as likely to be diagnosed with an embryonal tumor compared to children born without a birth defect. BDNCOs were strongly associated with hepatoblastoma (HR, 16.1; 95% CI, 11.3–22.9), and the HRs for neuroblastoma (3.1; 95% CI, 2.3–4.2) and nephroblastoma (2.9; 95% CI, 1.9–4.4) were elevated. There was no notable HRM by the aforementioned factors. Conclusions: Children with BDNCOs are more likely to develop embryonal tumors compared to children without a birth defect. Disruptions of shared developmental pathways may contribute to both phenotypes, which could inform future genomic assessments and cancer surveillance strategies of these conditions. Associations between nonchromosomal birth defects of neural crest cell developmental origins and pediatric embryonal tumors were investigated based on potential shared developmental pathways. With the use of data from a multistate, registry‐linkage cohort study, children born with these birth defects were found to be more likely (hazard ratio, 4.2; 95% CI, 3.5–5.1) to be diagnosed with the selected embryonal tumors than children without a birth defect, especially hepatoblastoma (hazard ratio, 16.1; 95% CI, 11.3–22.9). [ABSTRACT FROM AUTHOR]
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- 2023
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165. Twenty-Five Year Survival of Children with Intellectual Disability in Western Australia.
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Bourke, Jenny, Nembhard, Wendy N., Wong, Kingsley, and Leonard, Helen
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Objectives: To investigate survival up to early adulthood for children with intellectual disability and compare their risk of mortality with that of children without intellectual disability.Study Design: This was a retrospective cohort study of all live births in Western Australia between January 1, 1983 and December 31, 2010. Children with an intellectual disability (n = 10 593) were identified from the Western Australian Intellectual Disability Exploring Answers Database. Vital status was determined from linkage to the Western Australian Mortality database. Kaplan-Meier product limit estimates and 95% CIs were computed by level of intellectual disability. Hazard ratios (HRs) and 95% CIs were calculated from Cox proportional hazard regression models adjusting for potential confounders.Results: After adjusting for potential confounders, compared with those without intellectual disability, children with intellectual disability had a 6-fold increased risk of mortality at 1-5 years of age (adjusted HR [aHR] = 6.0, 95%CI: 4.8, 7.6), a 12-fold increased risk at 6-10 years of age (aHR = 12.6, 95% CI: 9.0, 17.7) and a 5-fold increased risk at 11-25 years of age (aHR = 4.9, 95% CI: 3.9, 6.1). Children with severe intellectual disability were at even greater risk. No difference in survival was observed for Aboriginal children with intellectual disability compared with non-Aboriginal children with intellectual disability.Conclusions: Although children with intellectual disability experience higher mortality at all ages compared with those without intellectual disability, the greatest burden is for those with severe intellectual disability. However, even children with mild to moderate intellectual disability have increased risk of death compared with unaffected children. [ABSTRACT FROM AUTHOR]- Published
- 2017
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166. Within-person vs. traditional study designs: How to evaluate study designs?
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Henian Chen, Nembhard, Wendy N., and Stockwell, Heather G.
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EPIDEMIOLOGY , *COHORT analysis - Abstract
A letter to the editor is presented in response to the article "Within-person study designs had lower precision and greater susceptibility to bias because of trends in exposure than cohort and nested case-control designs," in a previous issue of the periodical.
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- 2013
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167. Increasing the Utility of Population-Based Birth Defects Surveillance Program Data.
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Kirby, Russell S. and Nembhard, Wendy N.
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- 2014
168. Reproductive Health Counseling and Concerns Among Women with Congenital Heart Defects With and Without Disabilities.
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Farr, Sherry L., Galindo, Maureen, Downing, Karrie F., Nembhard, Wendy N., Klewer, Scott E., Judge, Ashley S., Bolin, Elijah H., Benavides, Argelia, and Oster, Matthew E.
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CONTRACEPTION , *BIRTHPLACES , *FAMILY planning , *COUNSELING , *AGE distribution , *CONGENITAL heart disease , *REGRESSION analysis , *RACE , *SEVERITY of illness index , *PSYCHOLOGY of women , *RESEARCH funding , *HEALTH insurance , *DESCRIPTIVE statistics , *PEOPLE with disabilities , *REPRODUCTIVE health , *POISSON distribution - Abstract
Background: Women with disabilities are less likely to receive reproductive health counseling than women without disabilities. Yet, little is known about reproductive health counseling and concerns among women with congenital heart defects (CHD) and disabilities. Methods: We used population-based survey data from 778 women aged 19 to 38 years with CHD to examine contraceptive and pregnancy counseling and pregnancy concerns and experiences by disability status, based on six validated questions on vision, hearing, mobility, cognition, self-care, and living independently. Multivariable Poisson regression was used to examine adjusted prevalence ratios between disability status and each outcome, adjusted for CHD severity, age, race/ethnicity, place of birth (Arkansas, Arizona, Georgia), and insurance type. Results: Women with disabilities (n = 323) were 1.4 and 2.3 times more likely than women without disabilities (n = 455) to receive clinician counseling on safe contraceptive methods and avoiding pregnancy because of their CHD. Women with CHD and disabilities, compared to those without disabilities, were more likely to be concerned about their ability to have children (aPR = 1.2) and to have delayed or avoided pregnancy (aPR = 2.2); they were less likely to have ever been pregnant (aPR = 0.7). Associations differed slightly across specific disability types. All associations remained after excluding 71 women with chromosomal anomalies. Conclusion: Among women with CHD, reproductive counseling, concerns, and experiences differ by disability status. [ABSTRACT FROM AUTHOR]
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- 2023
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169. A longitudinal study of SARS-CoV-2 antibody seroprevalence and mitigation behaviors among college students at an Arkansas University.
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Allen, Jaimi L., Amick, Benjamin C. III., Williams, Mark L., Kennedy, Joshua L., Boehme, Karl W., Forrest, J. Craig, Primack, Brian, Sides, Erica Ashley, Nembhard, Wendy N., Gardner, Stephanie F., Snowden, Jessica N., James, Laura P., Olgaard, Ericka, and Gandy, Jay
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Abstract
Objective: Assess university students’ SARS-CoV-2 antibody seroprevalence and mitigation behaviors over time.Participants: Randomly selected college students (N = 344) in a predominantly rural Southern state.Methods: Participants provided blood samples and completed self-administered questionnaires at three timepoints over the academic year. Adjusted odds ratios and 95% confidence intervals were estimated from logistic regression analyses.Results: SARS-CoV-2 antibody seroprevalence was 18.2% in September 2020, 13.1% in December, and 45.5% in March 2021 (21% for those with no vaccination history). SARS-CoV-2 antibody seroprevalence was associated with large social gatherings, staying local during the summer break, symptoms of fatigue or rhinitis, Greek affiliation, attending Greek events, employment, and using social media as the primary COVID-19 information source. In March 2021, seroprevalence was associated with receiving at least one dose of a COVID-19 vaccination.Conclusion: SARS-CoV-2 seroprevalence was higher in this population of college students than previous studies. Results can assist leaders in making informed decisions as new variants threaten college campuses. [ABSTRACT FROM AUTHOR]- Published
- 2023
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170. Enhancing Methods for Population-Based Birth Defects Surveillance Programs.
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Kirby, Russell S. and Nembhard, Wendy N.
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- 2013
171. Examination of a Stillbirth Workup: A Rural Statewide Experience.
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Whitcombe, Dayna D., Magann, Everett F., Fahr, Emily C., Ramseyer, Abigail, Ounpraseuth, Songthip, and Nembhard, Wendy N.
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STILLBIRTH , *FETAL death , *CHORIONIC villus sampling , *MEDICAL personnel , *GENETIC testing , *HUMAN abnormalities , *PLACENTA , *AUTOPSY , *RESEARCH funding , *PERINATAL death , *GESTATIONAL age - Abstract
Objective: The objective of our study was to determine whether recommended assessments were conducted on stillbirths delivered in our predominantly rural state.Methods: This was a descriptive study of stillbirths delivered in a rural state and included in one site of the Birth Defects Study to Evaluate Pregnancy Exposures stillbirth study. Hospital and fetal death records were examined to determine whether the following areas were evaluated: genetic testing (noninvasive perinatal testing, quad screen, amniocentesis/chorionic villus sampling with karyotype, microarrays, fetal tissue specimen), placenta/membrane/cord sent for pathologic examination, examination of the stillbirth after delivery by the healthcare provider, and fetal autopsy was performed.Results: From July 1, 2015 to June 30, 2020, there were 1108 stillbirths delivered in Arkansas. The most frequent assessments undertaken were placental pathology (72%), genetic testing (67%), fetal inspection (31%), and autopsy (13%). All four assessments were done in 2% of stillbirth cases, three assessments in 27%, two assessments in 47%, one assessment in 14%, and no assessment in 15%. There was no association between stillbirth assessment evaluation by gestational age (<28 weeks and > 28 weeks; P = 0.221); however, there was an overall association between hospital delivery volume with number of components completed (P < 0.0001). Hospitals with >2000 deliveries had a higher proportion of three or four completions compared with those hospitals with <1000 deliveries or 1000 to 2000 deliveries (P = 0.021 and P < 0.0001).Conclusions: Fetal stillbirth assessment is suboptimal in our rural state, with 15% of stillbirths having no assessment and only 2% having all four assessments. There is no association between stillbirth assessment and gestational age (<28 weeks vs >28 weeks), but there is a correlation between delivery volume and stillbirth assessment. [ABSTRACT FROM AUTHOR]- Published
- 2022
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172. Hospital Annual Delivery Volume and Presence of Graduate Medical Education Influence Mode of Delivery after Stillbirth.
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Ramseyer, Abigail M., Whittington, Julie R., Magann, Everett F., Warford, Brock, Ounpraseuth, Songthip, and Nembhard, Wendy N.
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STILLBIRTH , *GRADUATE medical education , *CESAREAN section , *FETAL death , *HEALTH facilities , *TEACHING hospitals - Abstract
Objectives: To evaluate the statewide experience in mode of delivery for pregnancies complicated by stillbirth by annual delivery volume and presence of graduate medical education programs.Methods: This is a descriptive study of all stillbirths without known congenital anomalies or aneuploidy born in our state from July 1, 2015 to June 30, 2019. Stillbirths were ascertained by the State Reproductive Health Monitoring System, a population-based surveillance system. Stillbirths were identified by the State Reproductive Health Monitoring System from medical facilities and fetal death certificates; trained staff abstracted records. All of the stillbirths with a gestational age of >20 weeks or a birth weight of >500 g if birth weight was unknown and without congenital anomalies or aneuploidy were eligible for this study.Results: There were 861 stillbirths from July 2015 through June 2019, 75 (8.7%) of which were delivered by cesarean section. Low-volume hospitals (<1000 deliveries) experienced a higher proportion of their stillbirths delivered by cesarean compared with high-volume hospitals (>1000 deliveries; 13.4% vs 5.5%; P < 0.0001). Before adjusting for maternal characteristics, stillbirths delivered at high-volume hospitals had a 59% lower risk of delivery by cesarean section compared with those delivered at low-volume hospitals (relative risk [RR] 0.41, 95% confidence interval 0.20-0.86, P = 0.02). The cesarean cohort had a higher proportion of Black mothers (44% vs 31.3%, P = 0.025), greater parity (P < 0.0001), and greater gravidity (P < 0.0001) compared with the vaginal group. The gestational age at delivery for stillbirths delivered by cesarean was much higher compared with those who were delivered vaginally (34.8 weeks vs 28.6 weeks; P < 0.0001). The RR of the cesarean delivery of a stillbirth at teaching institutions compared with nonteaching institutions was significantly reduced (RR 0.45, 95% confidence interval 0.28-0.73, P = 0.0011).Conclusions: Annual hospital delivery volumes and residency teaching programs in obstetrics influence the mode of delivery in the management of stillbirth. Advancing gestational age, Black race, and parity are associated with an increased risk of cesarean delivery after stillbirth. [ABSTRACT FROM AUTHOR]- Published
- 2020
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173. Maternal and infant genetic variants, maternal periconceptional use of selective serotonin reuptake inhibitors, and risk of congenital heart defects in offspring : population based study
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Nembhard, Wendy N, Tang, Xinyu, Hu, Zhuopei, MacLeod, Stewart, Stowe, Zachary, and Webber, Daniel
174. Altered mechanisms of genital development identified through integration of DNA methylation and genomic measures in hypospadias.
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Richard, Melissa A., Sok, Pagna, Canon, Stephen, Nembhard, Wendy N., Brown, Austin L., Peckham-Gregory, Erin C., Ton, Minh, Ehli, Erik A., Kallsen, Noah A., Peyton, Shanna A., Davies, Gareth E., Patel, Ashay, Zamilpa, Ismael, Hobbs, Charlotte A., Scheurer, Michael E., and Lupo, Philip J.
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DNA methylation , *GENOMICS , *HYPOSPADIAS , *PENIS , *GENES - Abstract
Hypospadias is a common birth defect where the urethral opening forms on the ventral side of the penis. We performed integrative methylomic, genomic, and transcriptomic analyses to characterize sites of DNA methylation that influence genital development. In case–control and case-only epigenome-wide association studies (EWAS) of preputial tissue we identified 25 CpGs associated with hypospadias characteristics and used one-sample two stage least squares Mendelian randomization (2SLS MR) to show a causal relationship for 21 of the CpGs. The largest difference was 15.7% lower beta-value at cg14436889 among hypospadias cases than controls (EWAS P = 5.4e−7) and is likely causal (2SLS MR P = 9.8e−15). Integrative annotation using two-sample Mendelian randomization of these methylation regions highlight potentially causal roles of genes involved in germ layer differentiation (WDHD1, DNM1L, TULP3), beta-catenin signaling (PKP2, UBE2R2, TNKS), androgens (CYP4A11, CYP4A22, CYP4B1, CYP4X1, CYP4Z2P, EPHX1, CD33/SIGLEC3, SIGLEC5, SIGLEC7, KLK5, KLK7, KLK10, KLK13, KLK14), and reproductive traits (ACAA1, PLCD1, EFCAB4B, GMCL1, MKRN2, DNM1L, TEAD4, TSPAN9, KLK family). This study identified CpGs that remained differentially methylated after urogenital development and used the most relevant tissue sample available to study hypospadias. We identified multiple methylation sites and candidate genes that can be further evaluated for their roles in regulating urogenital development. [ABSTRACT FROM AUTHOR]
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- 2020
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175. Risk of Stillbirth for Fetuses With Specific Birth Defects.
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Heinke, Dominique, Nestoridi, Eirini, Hernandez-Diaz, Sonia, Williams, Paige L., Rich-Edwards, Janet W., Lin, Angela E., Van Bennekom, Carla M., Mitchell, Allen A., Nembhard, Wendy N., Fretts, Ruth C., Roberts, Drucilla J., Duke, C. Wes, Carmichael, Suzan L., Yazdy, Mahsa M., and National Birth Defects Prevention Study
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DIAGNOSIS of fetal diseases , *PUBLIC health surveillance , *RESEARCH , *PRENATAL diagnosis , *RESEARCH methodology , *SPINA bifida , *RETROSPECTIVE studies , *EVALUATION research , *MEDICAL cooperation , *FETAL diseases , *PERINATAL death , *PREGNANCY outcomes , *RISK assessment , *COMPARATIVE studies , *RESEARCH funding - Abstract
Objective: To estimate the risk of stillbirth (fetal death at 20 weeks of gestation or more) associated with specific birth defects.Methods: We identified a population-based retrospective cohort of neonates and fetuses with selected major birth defects and without known or strongly suspected chromosomal or single-gene disorders from active birth defects surveillance programs in nine states. Abstracted medical records were reviewed by clinical geneticists to confirm and classify all birth defects and birth defect patterns. We estimated risks of stillbirth specific to birth defects among pregnancies overall and among those with isolated birth defects; potential bias owing to elective termination was quantified.Results: Of 19,170 eligible neonates and fetuses with birth defects, 17,224 were liveborn, 852 stillborn, and 672 electively terminated. Overall, stillbirth risks ranged from 11 per 1,000 fetuses with bladder exstrophy (95% CI 0-57) to 490 per 1,000 fetuses with limb-body-wall complex (95% CI 368-623). Among those with isolated birth defects not affecting major vital organs, elevated risks (per 1,000 fetuses) were observed for cleft lip with cleft palate (10; 95% CI 7-15), transverse limb deficiencies (26; 95% CI 16-39), longitudinal limb deficiencies (11; 95% CI 3-28), and limb defects due to amniotic bands (110; 95% CI 68-171). Quantified bias analysis suggests that failure to account for terminations may lead to up to fourfold underestimation of the observed risks of stillbirth for sacral agenesis (13/1,000; 95% CI 2-47), isolated spina bifida (24/1,000; 95% CI 17-34), and holoprosencephaly (30/1,000; 95% CI 10-68).Conclusion: Birth defect-specific stillbirth risk was high compared with the U.S. stillbirth risk (6/1,000 fetuses), even for isolated cases of oral clefts and limb defects; elective termination may appreciably bias some estimates. These data can inform clinical care and counseling after prenatal diagnosis. [ABSTRACT FROM AUTHOR]- Published
- 2020
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176. Assessing associations between residential proximity to greenspace and birth defects in the National Birth Defects Prevention Study.
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Weber, Kari A., Yang, Wei, Carmichael, Suzan L., Collins II, R. Thomas, Luben, Thomas J., Desrosiers, Tania A., Insaf, Tabassum Z., Le, Mimi T., Evans, Shannon Pruitt, Romitti, Paul A., Yazdy, Mahsa M., Nembhard, Wendy N., and Shaw, Gary M.
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HUMAN abnormalities , *ATRIAL septal defects , *NORMALIZED difference vegetation index , *CLEFT palate children , *INFANTS , *AORTIC coarctation , *CLEFT lip , *LOGISTIC regression analysis - Abstract
Residential proximity to greenspace is associated with various health outcomes. We estimated associations between maternal residential proximity to greenspace (based on an index of vegetation) and selected structural birth defects, including effect modification by neighborhood-level factors. Data were from the National Birth Defects Prevention Study (1997–2011) and included 19,065 infants with at least one eligible birth defect (cases) and 8925 without birth defects (controls) from eight Centers throughout the United States. Maternal participants reported their addresses throughout pregnancy. Each address was systematically geocoded and residences around conception were linked to greenspace, US Census, and US Department of Agriculture data. Greenspace was estimated using the normalized difference vegetation index (NDVI); average maximum NDVI was estimated within 100 m and 500 m concentric buffers surrounding geocoded addresses to estimate residential NDVI. We used logistic regression to estimate odds ratios (ORs) and 95% confidence intervals comparing those in the highest and lowest quartiles of residential NDVI and stratifying by rural/urban residence and neighborhood median income. After multivariable adjustment, for the 500 m buffer, inverse associations were observed for tetralogy of Fallot, secundum atrial septal defects, anencephaly, anotia/microtia, cleft lip ± cleft palate, transverse limb deficiency, and omphalocele, (aORs: 0.54–0.86). Results were similar for 100 m buffer analyses and similar patterns were observed for other defects, though results were not significant. Significant heterogeneity was observed after stratification by rural/urban for hypoplastic left heart, coarctation of the aorta, and cleft palate, with inverse associations only among participants residing in rural areas. Stratification by median income showed heterogeneity for atrioventricular and secundum atrial septal defects, anencephaly, and anorectal atresia, with inverse associations only among participants residing in a high-income neighborhood (aORs: 0.45–0.81). Our results suggest that perinatal residential proximity to more greenspace may contribute to a reduced risk of certain birth defects, especially among those living in rural or high-income neighborhoods. • We estimated associations between greenspace and select birth defects. • We observed inverse associations between more greenspace and various defects. • Associations were observed across multiple organ systems. • Heterogeneity was observed for rural vs. urban and high vs. low income neighborhoods. • Associations were generally stronger among those in rural or high-income areas. [ABSTRACT FROM AUTHOR]
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- 2023
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177. Modeling complex effects of exposure to particulate matter and extreme heat during pregnancy on congenital heart defects: A U.S. population-based case-control study in the National Birth Defects Prevention Study.
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Simmons, Will, Lin, Shao, Luben, Thomas J., Sheridan, Scott C., Langlois, Peter H., Shaw, Gary M., Reefhuis, Jennita, Romitti, Paul A., Feldkamp, Marcia L., Nembhard, Wendy N., Desrosiers, Tania A., Browne, Marilyn L., and Stingone, Jeanette A.
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- 2022
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178. Associations between PM2.5 and risk of preterm birth among liveborn infants.
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Alman, Breanna L., Stingone, Jeanette A., Yazdy, Mahsa, Botto, Lorenzo D., Desrosiers, Tania A., Pruitt, Shannon, Herring, Amy H., Langlois, Peter H., Nembhard, Wendy N., Shaw, Gary M., Olshan, Andrew F., Luben, Thomas J., and National Birth Defects Prevention Study
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PREMATURE labor , *INFANTS , *PARTICULATE matter , *HUMAN abnormalities , *HIGH temperatures , *AIR pollution , *MATERNAL exposure , *PREMATURE infants , *TEMPERATURE , *PREGNANCY outcomes , *PARTICLES , *RESEARCH funding , *ENVIRONMENTAL exposure , *PROBABILITY theory - Abstract
Purpose: Studies suggest exposure to ambient particulate matter less than 2.5 μg/m3 in aerodynamic diameter (PM2.5) may be associated with preterm birth (PTB), but few have evaluated how this is modified by ambient temperature. We investigated the relationship between PM2.5 exposure during pregnancy and PTB in infants without birth defects (1999-2006) and enrolled in the National Birth Defects Prevention Study and how it is modified by concurrent temperature.Methods: PTB was defined as spontaneous or iatrogenic delivery before 37 weeks. Exposure was assigned using inverse distance weighting with up to four monitors within 50 kilometers of maternal residence. To account for state-level variations, a Bayesian two-level hierarchal model was developed.Results: PTB was associated with PM2.5 during the third and fourth months of pregnancy (range: (odds ratio (95% confidence interval) = 1.00 (0.35, 2.15) to 1.49 (0.82, 2.68) and 1.31 (0.56, 2.91) to 1.62 (0.7, 3.32), respectively); no week of exposure conveyed greater risk. Temperature may modify this relationship; higher local average temperatures during pregnancy yielded stronger positive relationships between PM2.5 and PTB compared to nonstratified results.Conclusions: Results add to literature on associations between PM2.5 and PTB, underscoring the importance of considering co-exposures when estimating effects of PM2.5 exposure during pregnancy. [ABSTRACT FROM AUTHOR]- Published
- 2019
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179. Drug screening during pregnancy: Urine dip cups measure up.
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Kroska, Emily B., Meller, Elizabeth W., Doyle, Rena, Coker, Jessica L., Knight, Bettina T., Ray-Griffith, Shona L., Nembhard, Wendy N., and Stowe, Zachary N.
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DRUG use testing , *ENDORPHIN receptors , *URINE , *HOSPITAL laboratories , *DRUG toxicity - Abstract
Background: Substance use during pregnancy is a major medical and public health concern. Determination of the most appropriate screening protocol remains a clinical conundrum. Interviews and/or laboratory drug screens may be costly, inaccurate, and are frequently inadequate to identify patterns of substance use for a given population or geographic area. We compared commercially available urine "dip cup" toxicology screens obtained in the clinic to university hospital drug toxicology results.Methods: 267 observed urine samples were collected from pregnant women with known substance use disorders enrolled in a specialized treatment program that included access to buprenorphine medication-assisted treatment. Each urine sample was tested by commercial dip cup with temperature confirmation and then sent to the university hospital laboratory for analyses. The number of substances detected and cost for each screening method were compared.Results: Uniformly, the dip cup had comparable detection of amphetamines, barbiturates, cocaine, methadone, opiates, and tetrahydrocannabinol to the university hospital laboratory with the exception of benzodiazepines. In addition, the dip cup detected use of buprenorphine (a commonly misused opiate receptor ligand not included in the hospital screen) and was significantly less expensive.Conclusions: Commercially available urine dip cups are cost-effective, equally comparable to hospital based screening, and provide 'real time' results germane to clinical care and treatment planning. [ABSTRACT FROM AUTHOR]- Published
- 2019
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180. Survival of Children With Critical Congenital Heart Defects in the National Birth Defects Prevention Study.
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Forestieri NE, Olshan AF, Oster ME, Ailes EC, Fundora MP, Fisher SC, Shumate C, Romitti PA, F Liberman R, Nembhard WN, Carmichael SL, and Desrosiers TA
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- Humans, Female, Male, Case-Control Studies, Infant, Infant, Newborn, Proportional Hazards Models, Child, Preschool, Kaplan-Meier Estimate, United States, Survival Rate, Risk Factors, Child, Heart Defects, Congenital mortality
- Abstract
Background: Critical congenital heart defects (CCHDs) are associated with considerable morbidity and mortality. This study estimated survival of children with nonsyndromic CCHDs and evaluated relationships between exposures of interest and survival by CCHD severity (univentricular or biventricular function)., Methods: This analysis included 4380 infants with CCHDs (cases) born during 1999-2011 and enrolled in the National Birth Defects Prevention Study, a multisite, population-based case-control study of major birth defects. Cases were linked to state death files. Nonparametric Kaplan-Meier survival functions were used to estimate 1- and 5-year survival probabilities overall and by severity group (univentricular/biventricular) stratified by demographic and clinical exposure variables of interest. The log-rank test was used to determine whether stratified survival curves were equivalent. Survival and 95% confidence intervals (CIs) were also estimated using Cox proportional hazards modeling adjusted for maternal age, education, race/ethnicity, study site, and birth year., Results: One- and five-year survival rates were 85.8% (CI 84.7-86.8) and 83.7% (CI 82.5-84.9), respectively. Univentricular 5-year survival was lower than biventricular case survival [65.3% (CI 61.7-68.5) vs. 89.0% (CI 87.8-90.1; p < 0.001)]. Clinical factors (e.g. preterm birth, low birthweight, and complex/multiple defects) were associated with lower survival in each severity group. Sociodemographic factors (non-Hispanic Black race/ethnicity,
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- 2024
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181. Maternal Exposure to Tap Water Disinfection By-Products and Risk of Selected Congenital Heart Defects.
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Michalski AM, Luben TJ, Zaganjor I, Rhoads A, Romitti PA, Conway KM, Langlois PH, Feldkamp ML, Nembhard WN, Reefhuis J, Yazdy MM, Lin AE, Desrosiers TA, Hoyt AT, and Browne ML
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- Humans, Female, Adult, Pregnancy, Trihalomethanes analysis, Trihalomethanes adverse effects, Case-Control Studies, Odds Ratio, Water Supply, Water Pollutants, Chemical analysis, Water Pollutants, Chemical adverse effects, Risk Factors, Disinfectants analysis, Disinfectants adverse effects, Male, Heart Defects, Congenital, Maternal Exposure adverse effects, Drinking Water chemistry, Disinfection methods, Water Purification methods
- Abstract
Background: The use of chlorine to treat drinking water produces disinfection by-products (DBPs), which have been associated with congenital heart defects (CHDs) in some studies., Methods: Using National Birth Defects Prevention Study data, we linked geocoded residential addresses to public water supply measurement data for DBPs. Self-reported water consumption and filtration methods were used to estimate maternal ingestion of DBPs. We estimated adjusted odds ratios and 95% confidence intervals using logistic regression controlling for maternal age, education, body mass index (BMI), race/ethnicity, and study site to examine associations between CHDs and both household DBP level and estimated ingestion of DBPs., Results: Household DBP exposure was assessed for 2717 participants (1495 cases and 1222 controls). We observed a broad range of positive, null, and negative estimates across eight specific CHDs and two summary exposures (trihalomethanes and haloacetic acids) plus nine individual DBP species. Examining ingestion exposure among 2488 participants (1347 cases, 1141 controls) produced similarly inconsistent results., Conclusions: Assessing both household DBP level and estimated ingestion of DBPs, we did not find strong evidence of an association between CHDs and DBPs. Despite a large study population, DBP measurements were available for less than half of participant addresses, limiting study power., (© 2024 Wiley Periodicals LLC.)
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- 2024
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182. Survival to Young Adulthood Among Individuals With Congenital Heart Defects and Genetic Syndromes: Congenital Heart Survey to Recognize Outcomes, Needs, and Well-Being.
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Downing KF, Lin AE, Nembhard WN, Rose CE, Andrews JG, Goudie A, Klewer SE, Oster ME, and Farr SL
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- Humans, Young Adult, Adolescent, Adult, Child, Female, Male, Health Surveys, Health Services Needs and Demand, Genetic Diseases, Inborn genetics, Genetic Diseases, Inborn diagnosis, Heart Defects, Congenital genetics
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- 2024
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183. Enhancing the Classification of Congenital Heart Defects for Outcome Association Studies in Birth Defects Registries.
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Stephens SB, Benjamin RH, Lopez KN, Anderson BR, Lin AE, Shumate CJ, Nembhard WN, Morris SA, and Agopian AJ
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- Humans, Infant, Newborn, Female, Congenital Abnormalities epidemiology, Congenital Abnormalities classification, Infant, Texas epidemiology, Outcome Assessment, Health Care methods, Male, Infant Mortality trends, Heart Defects, Congenital epidemiology, Heart Defects, Congenital classification, Registries
- Abstract
Introduction: Traditional strategies for grouping congenital heart defects (CHDs) using birth defect registry data do not adequately address differences in expected clinical consequences between different combinations of CHDs. We report a lesion-specific classification system for birth defect registry-based outcome studies., Methods: For Core Cardiac Lesion Outcome Classifications (C-CLOC) groups, common CHDs expected to have reasonable clinical homogeneity were defined. Criteria based on combinations of Centers for Disease and Control-modified British Pediatric Association (BPA) codes were defined for each C-CLOC group. To demonstrate proof of concept and retention of reasonable case counts within C-CLOC groups, Texas Birth Defect Registry data (1999-2017 deliveries) were used to compare case counts and neonatal mortality between traditional vs. C-CLOC classification approaches., Results: C-CLOC defined 59 CHD groups among 62,262 infants with CHDs. Classifying cases into the single, mutually exclusive C-CLOC group reflecting the highest complexity CHD present reduced case counts among lower complexity lesions (e.g., 86.5% of cases with a common atrium BPA code were reclassified to a higher complexity group for a co-occurring CHD). As expected, C-CLOC groups had retained larger sample sizes (i.e., representing presumably better-powered analytic groups) compared to cases with only one CHD code and no occurring CHDs., Discussion: This new CHD classification system for investigators using birth defect registry data, C-CLOC, is expected to balance clinical outcome homogeneity in analytic groups while maintaining sufficiently large case counts within categories, thus improving power for CHD-specific outcome association comparisons. Future outcome studies utilizing C-CLOC-based classifications are planned., (© 2024 Wiley Periodicals LLC.)
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- 2024
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184. Health Insurance Status and Access to Healthcare Among Young Adults with Congenital Heart Disease: from the Congenital Heart Survey To Recognize Outcomes, Needs and Well-beinG (CH STRONG), 2016-2019.
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Bolin EH, Ali MM, Farr SL, Oster ME, Klewer SE, Thomas RC 2nd, Seckeler MD, and Nembhard WN
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- Humans, Female, Male, Adult, Young Adult, United States, Medically Uninsured statistics & numerical data, Adolescent, Comorbidity, Behavioral Risk Factor Surveillance System, Heart Defects, Congenital epidemiology, Health Services Accessibility statistics & numerical data, Insurance Coverage statistics & numerical data, Insurance, Health statistics & numerical data
- Abstract
Having health insurance is associated with better access to healthcare and lower rates of comorbidity in the general population, but data are limited on insurance's impact on adults with congenital heart disease (ACHD). The Congenital Heart Survey To Recognize Outcomes, Needs and well-beinG (CH STRONG) was conducted among ACHD in three locations from 2016 to 2019. We performed multivariable logistic regression to determine the associations between health insurance and both access to healthcare and presence of comorbidities. We also compared health insurance and comorbidities among ACHD to similarly-aged individuals in the Behavioral Risk Factor Surveillance System (BRFSS) as a proxy for the general population. Of 1354 CH STRONG respondents, the majority were ≤ 30 years old (83.5%), and 8.8% were uninsured versus 17.7% in the BRFSS (p < 0.01). Compared to insured ACHD, uninsured were less likely to report regular medical care (adjusted odds ratio [aOR] 0.2, 95% confidence interval [CI] 0.1-0.3) and visited an emergency room more often (aOR 1.6, CI 1.0-2.3). Among all ACHD reporting disability, uninsured individuals less frequently received benefits (aOR 0.1, CI 0.0-0.3). Depression was common among uninsured ACHD (22.5%), but insured ACHD had lower rates of depression than insured in the BRFSS (13.3% vs. 22.5%, p < 0.01). In conclusion, rates of insurance were higher among ACHD compared to the general population. Nonetheless, uninsured ACHD inconsistently accessed healthcare and benefits. Further studies are needed to determine if insurance ameliorates the risk of morbidity as ACHD age., (© 2023. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.)
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- 2024
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185. DNA methylation of the Lamin A/C gene is associated with congenital heart disease.
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Mukherjee N, Bolin EH, Qasim A, Orloff MS, Lupo PJ, and Nembhard WN
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- Humans, Female, Male, Case-Control Studies, Genetic Predisposition to Disease, CpG Islands genetics, Adult, Lamin Type A genetics, DNA Methylation genetics, Heart Defects, Congenital genetics
- Abstract
Background: Prior studies report associations of maternal serum Lamin A, encoded by the LMNA gene, with fetal congenital heart disease (CHD). It is unknown whether DNA methylation (DNAm) of cytosine-phosphate-guanine (CpG) sites in LMNA impacts the CHD susceptibility., Methods: We investigated the associations of LMNA DNAm with CHD using publicly available data of CHD cases (n = 197) and controls (n = 134) from the Gene Expression Omnibus repository. Peripheral blood DNAm was measured using Illumina 850 K BeadChip for cases and 450 K BeadChip for controls. We tested 31 LMNA CpGs to identify differences in DNAm between cases and controls using linear regression correcting for multiple testing with false discovery rate (FDR). In a case-only analysis, we tested the variations in LMNA DNAm between CHD subtypes. To identify the consistency of DNAm across tissue types we compared peripheral blood (n = 197) and heart tissue DNAm (n = 20) in CHD cases., Results: After adjusting for age, sex, and cell types there were significant differences in 17 of the 31 LMNA CpGs between CHD cases and controls (FDR p ≤ .05). We identified lower DNAm of cg09820673 at 3' UTR for hypoplastic left heart syndrome compared to other CHD subtypes. Three CpGs exhibited uniform DNAm in blood and heart tissues in cases. Eleven CpGs showed changes in the same direction in blood and heart tissues in cases compared to controls., Conclusion: We identify statistically significant differences in LMNA DNAm between CHD cases and controls. Future studies should investigate the role of maternal LMNA DNAm in CHD development., (© 2024 The Author(s). Birth Defects Research published by Wiley Periodicals LLC.)
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- 2024
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186. Exome sequencing identifies novel genes underlying primary congenital glaucoma in the National Birth Defects Prevention Study.
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Blue EE, Moore KJ, North KE, Desrosiers TA, Carmichael SL, White JJ, Chong JX, Bamshad MJ, Jenkins MM, Almli LM, Brody LC, Freedman SF, Reefhuis J, Romitti PA, Shaw GM, Werler M, Kay DM, Browne ML, Feldkamp ML, Finnell RH, Nembhard WN, Pangilinan F, and Olshan AF
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- Humans, Female, Male, United States, Mutation genetics, Genetic Predisposition to Disease, Infant, Infant, Newborn, Glaucoma genetics, Glaucoma congenital, Cytochrome P-450 CYP1B1 genetics, Exome Sequencing methods, Exome genetics
- Abstract
Background: Primary congenital glaucoma (PCG) affects approximately 1 in 10,000 live born infants in the United States (U.S.). PCG has a autosomal recessive inheritance pattern, and variable expressivity and reduced penetrance have been reported. Likely causal variants in the most commonly mutated gene, CYP1B1, are less prevalent in the U.S., suggesting that alternative genes may contribute to the condition. This study utilized exome sequencing to investigate the genetic architecture of PCG in the U.S. and to identify novel genes and variants., Methods: We studied 37 family trios where infants had PCG and were part of the National Birth Defects Prevention Study (births 1997-2011), a U.S. multicenter study of birth defects. Samples underwent exome sequencing and sequence reads were aligned to the human reference sample (NCBI build 37/hg19). Variant filtration was conducted under de novo and Mendelian inheritance models using GEMINI., Results: Among candidate variants, CYP1B1 was most represented (five trios, 13.5%). Twelve probands (32%) had potentially pathogenic variants in other genes not previously linked to PCG but important in eye development and/or to underlie Mendelian conditions with potential phenotypic overlap (e.g., CRYBB2, RXRA, GLI2)., Conclusion: Variation in the genes identified in this population-based study may help to further explain the genetics of PCG., (© 2024 Wiley Periodicals LLC.)
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- 2024
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187. Epidemiology of COVID-19 in Infants in the United States: Incidence, Severity, Fatality, and Variants of Concern.
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Barry MC, Pathak EB, Swanson J, Cen R, Menard J, Salemi JL, and Nembhard WN
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- Infant, Adult, Humans, United States epidemiology, Incidence, SARS-CoV-2, Infant Mortality, Infant Death, COVID-19 epidemiology
- Abstract
Background: The clinical spectrum of infant COVID-19 ranges from asymptomatic infection to life-threatening illness, yet epidemiologic surveillance has been limited for infants., Methods: Using COVID-19 case data (restricted to reporting states) and national mortality data, we calculated incidence, hospitalization, mortality and case fatality rates through March 2022., Results: Reported incidence of COVID-19 was 64.1 new cases per 1000 infant years (95% CI: 63.3-64.9). We estimated that 594,012 infants tested positive for COVID-19 nationwide by March 31, 2022. Viral variant comparisons revealed that incidence was 7× higher during the Omicron (January-March 2022) versus the pre-Delta period (June 2020-May 2021). The cumulative case hospitalization rate was 4.1% (95% CI: 4.0%-4.3%). For every 74 hospitalized infants, one infant death occurred, but overall COVID-19-related infant case fatality was low, with 7.0 deaths per 10,000 cases (95% CI: 5.6-8.7). Nationwide, 333 COVID-19 infant deaths were reported. Only 13 infant deaths (3.9%) were the result of usually lethal congenital anomalies. The majority of infant decedents were non-White (28.2% Black, 26.1% Hispanic, 8.1% Asian, Indigenous or multiracial)., Conclusions: More than half a million US infants contracted COVID-19 by March 2022. Longitudinal assessment of long-term infant SARS-CoV-2 infection sequelae remains a critical research gap. Extremely low infant vaccination rates (<5%), waning adult immunity and continued viral exposure risks suggest that infant COVID-19 will remain a persistent public health problem. Our study underscores the need to increase vaccination rates for mothers and infants, decrease viral exposure risks and improve health equity., Competing Interests: The authors have no funding or conflicts of interest to disclose., (Copyright © 2023 Wolters Kluwer Health, Inc. All rights reserved.)
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- 2024
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188. Gastroschisis prevalence patterns in 27 surveillance programs from 24 countries, International Clearinghouse for Birth Defects Surveillance and Research, 1980-2017.
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Feldkamp ML, Canfield MA, Krikov S, Prieto-Merino D, Šípek A Jr, LeLong N, Amar E, Rissmann A, Csaky-Szunyogh M, Tagliabue G, Pierini A, Gatt M, Bergman JEH, Szabova E, Bermejo-Sánchez E, Tucker D, Dastgiri S, Bidondo MP, Canessa A, Zarante I, Hurtado-Villa P, Martinez L, Mutchinick OM, Camelo JL, Benavides-Lara A, Thomas MA, Liu S, Nembhard WN, Gray EB, Nance AE, Mastroiacovo P, and Botto LD
- Subjects
- Pregnancy, Infant, Newborn, Female, Humans, Prevalence, Stillbirth, Maternal Age, Gastroschisis epidemiology, Hernia, Umbilical epidemiology, Limb Deformities, Congenital
- Abstract
Background: Gastroschisis is a serious birth defect with midgut prolapse into the amniotic cavity. The objectives of this study were to evaluate the prevalence and time trends of gastroschisis among programs in the International Clearinghouse for Birth Defects Surveillance and Research (ICBDSR), focusing on regional variations and maternal age changes in the population., Methods: We analyzed data on births from 1980 to 2017 from 27 ICBDSR member programs, representing 24 countries and three regions (Europe
+ (includes Iran) , Latin America, North America). Cases were identified using diagnostic codes (i.e., 756.7, 756.71, or Q79.3). We excluded cases of amniotic band syndrome, limb-body wall defect, and ruptured omphalocele. Programs provided annual counts for gastroschisis cases (live births, stillbirths, and legally permitted pregnancy terminations for fetal anomalies) and source population (live births, stillbirths), by maternal age., Results: Overall, gastroschisis occurred in 1 of every 3268 births (3.06 per 10,000 births; 95% confidence intervals [CI]: 3.01, 3.11), with marked regional variation. European+ prevalence was 1.49 (95%CI: 1.44, 1.55), Latin American 3.80 (95%CI: 3.69, 3.92) and North American 4.32 (95%CI: 4.22, 4.42). A statistically significant increasing time trend was observed among six European+ , four Latin American, and four North American programs. Women <20 years of age had the highest prevalence in all programs except the Slovak Republic., Conclusions: Gastroschisis prevalence increased over time in 61% of participating programs, and the highest increase in prevalence was observed among the youngest women. Additional inquiry will help to assess the impact of the changing maternal age proportions in the birth population on gastroschisis prevalence., (© 2024 The Authors. Birth Defects Research published by Wiley Periodicals LLC.)- Published
- 2024
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189. Scientific impact of the National Birth Defects Prevention Network multistate collaborative publications.
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Bascom JT, Stephens SB, Lupo PJ, Canfield MA, Kirby RS, Nestoridi E, Salemi JL, Mai CT, Nembhard WN, Forestieri NE, Romitti PA, St Louis AM, and Agopian AJ
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- Humans, United States epidemiology, Folic Acid, Population Surveillance methods, Risk Factors, Neural Tube Defects prevention & control
- Abstract
Background: Given the lack of a national, population-based birth defects surveillance program in the United States, the National Birth Defects Prevention Network (NBDPN) has facilitated important studies on surveillance, research, and prevention of major birth defects. We sought to summarize NBDPN peer-reviewed publications and their impact., Methods: We obtained and reviewed a curated list of 49 NBDPN multistate collaborative publications during 2000-2022, as of December 31, 2022. Each publication was reviewed and classified by type (e.g., risk factor association analysis). Key characteristics of study populations and analytic approaches used, along with publication impact (e.g., number of citations), were tabulated., Results: NBDPN publications focused on prevalence estimates (N = 17), surveillance methods (N = 11), risk factor associations (N = 10), mortality and other outcomes among affected individuals (N = 6), and descriptive epidemiology of various birth defects (N = 5). The most cited publications were those that reported on prevalence estimates for a spectrum of defects and those that assessed changes in neural tube defects (NTD) prevalence following mandatory folic acid fortification in the United States., Conclusions: Results from multistate NBDPN publications have provided critical information not available through other sources, including US prevalence estimates of major birth defects, folic acid fortification and NTD prevention, and improved understanding of defect trends and surveillance efforts. Until a national birth defects surveillance program is established in the United States, NBDPN collaborative publications remain an important resource for investigating birth defects and informing decisions related to health services planning of secondary disabilities prevention and care., (© 2023 Wiley Periodicals LLC.)
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- 2024
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190. Comparison of Trihalomethane exposure assessment metrics in epidemiologic analyses of reproductive and developmental outcomes.
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Luben TJ, Shaffer RM, Kenyon E, Nembhard WN, Weber KA, Nuckols J, and Wright JM
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- Humans, Data Collection, Household Products
- Abstract
Background: Researchers have developed exposure assessment metrics for disinfection by-products (DBPs) utilizing drinking water monitoring data and accounting for spatial and temporal variability, water consumption, and showering and bathing time with an expectation of decreasing exposure misclassification compared to the use of measured concentrations at public water supply (PWS) monitoring locations alone., Objective: We used exposure data collected for a previous study of DBPs to evaluate how different sources of information impact trihalomethane (THM) exposure estimates., Methods: We compared gestational exposure estimates to THMs based on water utility monitoring data alone, statistical imputation of daily concentrations to incorporate temporal variability, and personal water consumption and use (bathing and showering). We used Spearman correlation coefficients and ranked kappa statistics to compare exposure classifications., Results: Exposure estimates based on measured or imputed daily THM concentrations, self-reported consumption, or bathing and showering differed substantially from estimates based solely on concentrations from PWS quarterly monitoring reports. Ranked exposure classifications, high to low quartiles or deciles, were generally consistent across each exposure metric (i.e., a subject with "high" exposure based on measured or imputed THM concentrations generally remained in the "high" category across exposure metrics.) The measured concentrations and imputed daily (i.e., spline regression) concentrations were highly correlated (r = 0.98). The weighted kappa statistics comparing exposure estimates using different exposure metrics ranged from 0.27 to 0.89, with the highest values for the ingestion + bathing/showering metrics compared to metrics for bathing/showering only (0.76 and 0.89). Bathing and showering contributed the most to "total" THM exposure estimates., Impact Statement: We compare exposure metrics capturing temporal variability and multiple estimates of personal THM exposure with THM concentrations from PWS monitoring data. Our results show exposure estimates based on imputed daily concentrations accounting for temporal variability were very similar to the measured THM concentrations. We observed low agreement between imputed daily concentrations and ingestion-based estimates. Considering additional routes of exposure (e.g., inhalation and dermal) slightly increased agreement with the measured PWS exposure estimate in this population. Overall, the comparison of exposure assessment metrics allows researchers to understand the added value of additional data collection for future epidemiologic analyses of DBPs., (© 2023. This is a U.S. Government work and not under copyright protection in the US; foreign copyright protection may apply.)
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- 2024
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191. National population-based estimates for major birth defects, 2016-2020.
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Stallings EB, Isenburg JL, Rutkowski RE, Kirby RS, Nembhard WN, Sandidge T, Villavicencio S, Nguyen HH, McMahon DM, Nestoridi E, and Pabst LJ
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- Humans, Maternal Age, United States epidemiology, Female, Down Syndrome, Gastroschisis epidemiology, Heart Defects, Congenital epidemiology, Transposition of Great Vessels
- Abstract
Background: We provide updated crude and adjusted prevalence estimates of major birth defects in the United States for the period 2016-2020., Methods: Data were collected from 13 US population-based surveillance programs that used active or a combination of active and passive case ascertainment methods to collect all birth outcomes. These data were used to calculate pooled prevalence estimates and national prevalence estimates adjusted for maternal race/ethnicity for all conditions, and maternal age for trisomies and gastroschisis. Prevalence was compared to previously published national estimates from 1999 to 2014., Results: Adjusted national prevalence estimates per 10,000 live births ranged from 0.63 for common truncus to 18.65 for clubfoot. Temporal changes were observed for several birth defects, including increases in the prevalence of atrioventricular septal defect, tetralogy of Fallot, omphalocele, trisomy 18, and trisomy 21 (Down syndrome) and decreases in the prevalence of anencephaly, common truncus, transposition of the great arteries, and cleft lip with and without cleft palate., Conclusion: This study provides updated national estimates of selected major birth defects in the United States. These data can be used for continued temporal monitoring of birth defects prevalence. Increases and decreases in prevalence since 1999 observed in this study warrant further investigation., (© 2024 Wiley Periodicals LLC. This article has been contributed to by U.S. Government employees and their work is in the public domain in the USA.)
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- 2024
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192. Fever and antibiotic use in maternal urinary tract infections during pregnancy and risk of congenital heart defects: Findings from the National Birth Defects Prevention Study.
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Patel J, Politis MD, Howley MM, Browne ML, Bolin EH, Ailes EC, Johnson CY, Magann E, and Nembhard WN
- Subjects
- Pregnancy, Infant, Humans, Female, Anti-Bacterial Agents adverse effects, Risk Factors, Case-Control Studies, Heart Defects, Congenital complications, Heart Defects, Congenital epidemiology, Urinary Tract Infections complications, Urinary Tract Infections drug therapy, Urinary Tract Infections epidemiology
- Abstract
Background: Previous studies report an association between prenatal maternal urinary tract infections (UTI) and specific congenital heart defects (CHDs); however, the role of fever and antibiotic use on this association is poorly understood. Using data from the National Birth Defects Prevention Study, we examined whether the relationship between maternal UTIs during the periconceptional period and occurrence of CHDs is modified by the presence of fever due to UTI and corresponding antibiotic use among 11,704 CHD case infants and 11,636 live-born control infants., Methods: Information on UTIs, fever associated with UTI and antibiotic use (sulfonamides, nitrofurantoin, cephalosporins, penicillin, macrolides, and quinolones) during pregnancy were obtained using a computer-assisted telephone interview. Using unconditional multivariable logistic regression, we calculated adjusted odds ratios (ORs) to determine the association between maternal UTIs and subtypes of CHDs. Analyses were stratified by the presence of fever and medication use associated with UTI., Results: The prevalence of UTIs during the periconceptional period was 7.6% in control mothers, and 8.7% in case mothers. In the absence of fever, UTI was associated with secundum atrial septal defects (ASD) (OR 1.3; 95% confidence interval [CI] 1.1-1.5) and in the absence of antibiotics, UTI was associated with conotruncal defects as a group and for four specific CHDs. When fever and UTI occurred concomitantly, no significantly elevated odds ratios were noticed for any subtypes of CHD. Among women with UTIs who used antibiotics, an elevated but statistically non-significant estimate was observed for secundum ASD (OR 1.4; 95% CI 1.0-2.0)., Conclusion: Findings in the present study suggest that fever due to UTI and corresponding maternal antibiotic use do not substantially modify the association between maternal UTIs and specific CHDs in offspring. Further studies with larger sample sizes are warranted to guide clinical management of UTIs during the periconceptional period., (© 2023 Wiley Periodicals LLC.)
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- 2024
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193. Racial and ethnic disparities in socio-economic status, access to care, and healthcare utilisation among children with heart conditions, National Survey of Children's Health 2016-2019.
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Judge AS, Downing KF, Nembhard WN, Oster ME, and Farr SL
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- Child, Humans, Male, United States epidemiology, Female, Ethnicity, Health Services Accessibility, Patient Acceptance of Health Care, Healthcare Disparities, Child Health, Economic Status
- Abstract
Among children with and without heart conditions of different race/ethnicities, upstream social determinants of health, such as socio-economic status, access to care, and healthcare utilisation, may vary. Using caregiver-reported data from the 2016-19 National Survey of Children's Health, we calculated the prevalence of caregiver employment and education, child's health insurance, usual place of medical care in the past 12 months, problems paying for child's care, ≥2 emergency room visits, and unmet healthcare needs by heart condition status and race/ethnicity (Hispanic, non-Hispanic Black, and non-Hispanic White). For each outcome, we used multivariable logistic regression to generate adjusted prevalence ratios controlling for child's age and sex. Of 2632 children with heart conditions and 104,841 without, 65.4% and 58.0% were non-Hispanic White and 52.0% and 51.1% were male, respectively. Children with heart conditions, compared to those without, were 1.7-2.6 times more likely to have problems paying for healthcare, have ≥2 emergency room visits, and have unmet healthcare needs. Hispanic and non-Hispanic Black children with heart conditions, compared to non-Hispanic White, were 1.5-3.2 times as likely to have caregivers employed <50 weeks in the past year and caregivers with ≤ high school education, public or no health insurance, no usual place of care, and ≥2 emergency room visits. Children with heart conditions, compared to those without, may have greater healthcare needs that more commonly go unmet. Among children with heart conditions, Hispanic and non-Hispanic Black children may experience lower socio-economic status and greater barriers to healthcare than non-Hispanic White children.
- Published
- 2023
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194. Is gastroschisis associated with county-level socio-environmental quality during pregnancy?
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Krajewski AK, Patel A, Gray CL, Messer LC, Keeler CY, Langlois PH, Reefhuis J, Gilboa SM, Werler MM, Shaw GM, Carmichael SL, Nembhard WN, Insaf TZ, Feldkamp ML, Conway KM, Lobdell DT, and Desrosiers TA
- Subjects
- Pregnancy, Infant, Female, Humans, Environmental Exposure adverse effects, Maternal Age, Prevalence, Odds Ratio, Gastroschisis epidemiology, Gastroschisis etiology
- Abstract
Background: Gastroschisis prevalence more than doubled between 1995 and 2012. While there are individual-level risk factors (e.g., young maternal age, low body mass index), the impact of environmental exposures is not well understood., Methods: We used the U.S. Environmental Protection Agency's Environmental Quality Index (EQI) as a county-level estimate of cumulative environmental exposures for five domains (air, water, land, sociodemographic, and built) and overall from 2006 to 2010. Adjusted odds ratios (aOR) and 95% confidence interval (CI) were estimated from logistic regression models between EQI tertiles (better environmental quality (reference); mid; poorer) and gastroschisis in the National Birth Defects Prevention Study from births delivered between 2006 and 2011. Our analysis included 594 cases with gastroschisis and 4105 infants without a birth defect (controls)., Results: Overall EQI was modestly associated with gastroschisis (aOR [95% CI]: 1.29 [0.98, 1.71]) for maternal residence in counties with poorer environmental quality, compared to the reference (better environmental quality). Within domain-specific indices, only the sociodemographic domain (aOR: 1.51 [0.99, 2.29]) was modestly associated with gastroschisis, when comparing poorer to better environmental quality., Conclusions: Future work could elucidate pathway(s) by which components of the sociodemographic domain or possibly related psychosocial factors like chronic stress potentially contribute to risk of gastroschisis., (© 2023 Wiley Periodicals LLC. This article has been contributed to by U.S. Government employees and their work is in the public domain in the USA.)
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- 2023
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195. Neighborhood Deprivation and Neural Tube Defects.
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Pruitt Evans S, Ailes EC, Kramer MR, Shumate CJ, Reefhuis J, Insaf TZ, Yazdy MM, Carmichael SL, Romitti PA, Feldkamp ML, Neo DT, Nembhard WN, Shaw GM, Palmi E, and Gilboa SM
- Subjects
- Humans, Educational Status, Ethnicity, Maternal Age, Odds Ratio, Female, Neural Tube Defects epidemiology, Neural Tube Defects etiology
- Abstract
Background: Individual measures of socioeconomic status (SES) have been associated with an increased risk of neural tube defects (NTDs); however, the association between neighborhood SES and NTD risk is unknown. Using data from the National Birth Defects Prevention Study (NBDPS) from 1997 to 2011, we investigated the association between measures of census tract SES and NTD risk., Methods: The study population included 10,028 controls and 1829 NTD cases. We linked maternal addresses to census tract SES measures and used these measures to calculate the neighborhood deprivation index. We used generalized estimating equations to calculate adjusted odds ratios (aORs) and 95% confidence intervals (CIs) estimating the impact of quartiles of census tract deprivation on NTDs adjusting for maternal race-ethnicity, maternal education, and maternal age at delivery., Results: Quartiles of higher neighborhood deprivation were associated with NTDs when compared with the least deprived quartile (Q2: aOR = 1.2; 95% CI = 1.0, 1.4; Q3: aOR = 1.3, 95% CI = 1.1, 1.5; Q4 (highest): aOR = 1.2; 95% CI = 1.0, 1.4). Results for spina bifida were similar; however, estimates for anencephaly and encephalocele were attenuated. Associations differed by maternal race-ethnicity., Conclusions: Our findings suggest that residing in a census tract with more socioeconomic deprivation is associated with an increased risk for NTDs, specifically spina bifida., Competing Interests: The authors report no conflicts of interest., (Copyright © 2023 Wolters Kluwer Health, Inc. All rights reserved.)
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- 2023
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196. Neighborhood social deprivation and healthcare utilization, disability, and comorbidities among young adults with congenital heart defects: Congenital heart survey to recognize outcomes, needs, and well-being 2016-2019.
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Judge A, Kramer M, Downing KF, Andrews J, Oster ME, Benavides A, Nembhard WN, and Farr SL
- Subjects
- Child, Infant, Newborn, Humans, Female, Young Adult, Adolescent, Adult, Male, Comorbidity, Surveys and Questionnaires, Patient Acceptance of Health Care, Social Deprivation, Heart Defects, Congenital epidemiology
- Abstract
Background: Research on the association between neighborhood social deprivation and health among adults with congenital heart defects (CHD) is sparse., Methods: We evaluated the associations between neighborhood social deprivation and health care utilization, disability, and comorbidities using the population-based 2016-2019 Congenital Heart Survey To Recognize Outcomes, Needs, and well-beinG (CH STRONG) of young adults. Participants were identified from active birth defect surveillance systems in three U.S. sites and born with CHD between 1980 and 1997. We linked census tract-level 2017 American Community Survey information on median household income, percent of ≥25-year-old with greater than a high school degree, percent of ≥16-year-olds who are unemployed, and percent of families with children <18 years old living in poverty to survey data and used these variables to calculate a summary neighborhood social deprivation z-score, divided into tertiles. Adjusted prevalence ratios (aPR) and 95% confidence intervals (CI) derived from a log-linear regression model with a Poisson distribution estimated the association between tertile of neighborhood social deprivation and healthcare utilization in previous year (no encounters, 1 and ≥2 emergency room [ER] visits, and hospital admission), ≥1 disability, and ≥1 comorbidities. We accounted for age, place of birth, sex at birth, presence of chromosomal anomalies, and CHD severity in all models, and, additionally educational attainment and work status in all models except disability., Results: Of the 1435 adults with CHD, 43.8% were 19-24 years old, 54.4% were female, 69.8% were non-Hispanic White, and 33.7% had a severe CHD. Compared to the least deprived tertile, respondents in the most deprived tertile were more likely to have no healthcare visit (aPR: 1.5 [95% CI: 1.1, 2.1]), ≥2 ER visits (1.6 [1.1, 2.3]), or hospitalization (1.6 [1.1, 2.3]) in the previous 12 months, a disability (1.2 [1.0, 1.5]), and ≥1 cardiac comorbidities (1.8 [1.2, 2.7])., Conclusions: Neighborhood social deprivation may be a useful metric to identify patients needing additional resources and referrals., (© 2023 Wiley Periodicals LLC. This article has been contributed to by U.S. Government employees and their work is in the public domain in the USA.)
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- 2023
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197. A gene-based association test of interactions for maternal-fetal genotypes identifies genes associated with nonsyndromic congenital heart defects.
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Huang M, Lyu C, Liu N, Nembhard WN, Witte JS, Hobbs CA, and Li M
- Subjects
- Female, Humans, Models, Genetic, Genotype, Mothers, Case-Control Studies, Genome-Wide Association Study, Heart Defects, Congenital genetics
- Abstract
The risk of congenital heart defects (CHDs) may be influenced by maternal genes, fetal genes, and their interactions. Existing methods commonly test the effects of maternal and fetal variants one-at-a-time and may have reduced statistical power to detect genetic variants with low minor allele frequencies. In this article, we propose a gene-based association test of interactions for maternal-fetal genotypes (GATI-MFG) using a case-mother and control-mother design. GATI-MFG can integrate the effects of multiple variants within a gene or genomic region and evaluate the joint effect of maternal and fetal genotypes while allowing for their interactions. In simulation studies, GATI-MFG had improved statistical power over alternative methods, such as the single-variant test and functional data analysis (FDA) under various disease scenarios. We further applied GATI-MFG to a two-phase genome-wide association study of CHDs for the testing of both common variants and rare variants using 947 CHD case mother-infant pairs and 1306 control mother-infant pairs from the National Birth Defects Prevention Study (NBDPS). After Bonferroni adjustment for 23,035 genes, two genes on chromosome 17, TMEM107 (p = 1.64e-06) and CTC1 (p = 2.0e-06), were identified for significant association with CHD in common variants analysis. Gene TMEM107 regulates ciliogenesis and ciliary protein composition and was found to be associated with heterotaxy. Gene CTC1 plays an essential role in protecting telomeres from degradation, which was suggested to be associated with cardiogenesis. Overall, GATI-MFG outperformed the single-variant test and FDA in the simulations, and the results of application to NBDPS samples are consistent with existing literature supporting the association of TMEM107 and CTC1 with CHDs., (© 2023 The Authors. Genetic Epidemiology published by Wiley Periodicals LLC.)
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- 2023
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198. Survival From Birth Until Young Adulthood Among Individuals With Congenital Heart Defects: CH STRONG.
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Downing KF, Nembhard WN, Rose CE, Andrews JG, Goudie A, Klewer SE, Oster ME, and Farr SL
- Subjects
- Infant, Humans, Young Adult, Adult, Child, Adolescent, Retrospective Studies, Infant Mortality, Ethnicity, Hispanic or Latino, Heart Defects, Congenital epidemiology
- Abstract
Background: Limited population-based information is available on long-term survival of US individuals with congenital heart defects (CHDs). Therefore, we assessed patterns in survival from birth until young adulthood (ie, 35 years of age) and associated factors among a population-based sample of US individuals with CHDs., Methods: Individuals born between 1980 and 1997 with CHDs identified in 3 US birth defect surveillance systems were linked to death records through 2015 to identify those deceased and the year of their death. Kaplan-Meier survival curves, adjusted risk ratios (aRRs) for infant mortality (ie, death during the first year of life), and Cox proportional hazard ratios for survival after the first year of life (aHRs) were used to estimate the probability of survival and associated factors. Standardized mortality ratios compared infant mortality, >1-year mortality, >10-year mortality, and >20-year mortality among individuals with CHDs with general population estimates., Results: Among 11 695 individuals with CHDs, the probability of survival to 35 years of age was 81.4% overall, 86.5% among those without co-occurring noncardiac anomalies, and 92.8% among those who survived the first year of life. Characteristics associated with both infant mortality and reduced survival after the first year of life, respectively, included severe CHDs (aRR=4.08; aHR=3.18), genetic syndromes (aRR=1.83; aHR=3.06) or other noncardiac anomalies (aRR=1.54; aHR=2.53), low birth weight (aRR=1.70; aHR=1.29), and Hispanic (aRR=1.27; aHR=1.42) or non-Hispanic Black (aRR=1.43; aHR=1.80) maternal race and ethnicity. Individuals with CHDs had higher infant mortality (standardized mortality ratio=10.17), >1-year mortality (standardized mortality ratio=3.29), and >10-year and >20-year mortality (both standardized mortality ratios ≈1.5) than the general population; however, after excluding those with noncardiac anomalies, >1-year mortality for those with nonsevere CHDs and >10-year and >20-year mortality for those with any CHD were similar to the general population., Conclusions: Eight in 10 individuals with CHDs born between1980 and 1997 survived to 35 years of age, with disparities by CHD severity, noncardiac anomalies, birth weight, and maternal race and ethnicity. Among individuals without noncardiac anomalies, those with nonsevere CHDs experienced similar mortality between 1 and 35 years of age as in the general population, and those with any CHD experienced similar mortality between 10 and 35 years of age as in the general population., Competing Interests: Disclosures None.
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- 2023
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199. Healthcare and Socioeconomic Outcomes Among Young Adults With Congenital Heart Defects and Functional Cognitive Disabilities, CH STRONG 2016 to 2019.
- Author
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Downing KF, Klewer SE, Nembhard WN, Goudie A, Oster ME, and Farr SL
- Subjects
- Humans, Young Adult, Delivery of Health Care, Socioeconomic Factors, Cognition, Heart Defects, Congenital epidemiology, Heart Defects, Congenital psychology
- Abstract
Competing Interests: Declaration of Competing Interest The authors have no conflicts of interest to declare.
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- 2023
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200. Rare variants in CAPN2 increase risk for isolated hypoplastic left heart syndrome.
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Blue EE, White JJ, Dush MK, Gordon WW, Wyatt BH, White P, Marvin CT, Helle E, Ojala T, Priest JR, Jenkins MM, Almli LM, Reefhuis J, Pangilinan F, Brody LC, McBride KL, Garg V, Shaw GM, Romitti PA, Nembhard WN, Browne ML, Werler MM, Kay DM, Mital S, Chong JX, Nascone-Yoder NM, and Bamshad MJ
- Subjects
- Animals, Humans, Alleles, Aorta, Calpain genetics, Cerebral Ventricles, Hypoplastic Left Heart Syndrome genetics
- Abstract
Hypoplastic left heart syndrome (HLHS) is a severe congenital heart defect (CHD) characterized by hypoplasia of the left ventricle and aorta along with stenosis or atresia of the aortic and mitral valves. HLHS represents only ∼4%-8% of all CHDs but accounts for ∼25% of deaths. HLHS is an isolated defect (i.e., iHLHS) in 70% of families, the vast majority of which are simplex. Despite intense investigation, the genetic basis of iHLHS remains largely unknown. We performed exome sequencing on 331 families with iHLHS aggregated from four independent cohorts. A Mendelian-model-based analysis demonstrated that iHLHS was not due to single, large-effect alleles in genes previously reported to underlie iHLHS or CHD in >90% of families in this cohort. Gene-based association testing identified increased risk for iHLHS associated with variation in CAPN2 (p = 1.8 × 10
-5 ), encoding a protein involved in functional adhesion. Functional validation studies in a vertebrate animal model ( Xenopus laevis ) confirmed CAPN2 is essential for cardiac ventricle morphogenesis and that in vivo loss of calpain function causes hypoplastic ventricle phenotypes and suggest that human CAPN2707C>T and CAPN21112C>T variants, each found in multiple individuals with iHLHS, are hypomorphic alleles. Collectively, our findings show that iHLHS is typically not a Mendelian condition, demonstrate that CAPN2 variants increase risk of iHLHS, and identify a novel pathway involved in HLHS pathogenesis., Competing Interests: M.J.B. and J.X.C. are the editor-in-chief and deputy editor, respectively, of Human Genetics and Genomics Advances and were recused from the editorial handling of this article. J.J.W. is an employee and shareholder of Invitae. M.J.B. is chair of the Scientific Advisory Board of GeneDx. S.M. is on the Hypertrophic Cardiomyopathy Advisory Board of Bristol-Myers Squibb., (© 2023 The Author(s).)- Published
- 2023
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