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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. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

Background: This study examined risk for developmental disabilities in preschool‐aged children with a congenital heart defect (CHD) at the population level. Methods: Statewide birth, birth defects, and preschool developmental disability records were integrated. The final sample included 1,966,585 children (51.0% male). Children were grouped by type(s) of CHD: critical CHD, noncritical CHD, atrial septal defect, or no major birth defects (groups were mutually exclusive). Results: Children with a CHD (any type) were at increased risk for developmental disability (any type) (RR 2.08, 95% CI 2.03–2.14, P <.001). Children in the critical CHD, noncritical CHD, and atrial septal defect groups were at increased risk for developmental delay, intellectual disability, language impairment, other health impairment, and any disability. Children in the atrial septal defect group were at increased risk for autism spectrum disorder and speech impairment. For all CHD groups, risk was greatest for other health impairment and intellectual disability. Conclusions: Increased risk for developmental disabilities was identified for children with less severe CHDs as well as for children with more severe (critical) CHDs. All children with CHDs should be closely monitored so that appropriate interventions can be initiated as early as possible to maximize learning outcomes. [ABSTRACT FROM AUTHOR]

Background: Both short and long interpregnancy intervals (IPIs) have been associated with adverse birth outcomes. We undertook a multistate study to describe the prevalence of selected birth defects by IPI. Methods: We obtained data from nine population‐based state birth defects registries for singleton live births in 2000–2009 among mothers with a previous live birth identified through birth certificates. IPI was calculated as the difference between prior birthdate and start of the current pregnancy (conception date). We estimated prevalence of selected defects per 10,000 live births and prevalence ratios (PRs) with 95% confidence intervals (CIs) overall and stratified by maternal age at previous birth and race/ethnicity. Primary analyses focused on short IPI < 6 months and long IPI ≥ 60 months compared to 18–23 months (referent). Sensitivity analyses limited to active‐surveillance states and those with<10% missing IPI. Results: Among 5,147,962 eligible births, 6.3% had short IPI while 19.8% had long IPI. Compared to referent, prevalence with short IPI was elevated for gastroschisis (3.7, CI: 3.0–4.5 vs. 2.0, CI: 1.6–2.4) and with both short and long IPI for tetralogy of Fallot (short: 3.4, 2.8–4.2 long: 3.8, 3.4–4.3 vs. 2.7, 2.3–3.2) and cleft lip ± palate (short: 9.9, 8.8–11.2 long: 9.2, 8.5–9.8 vs. 8.4, 7.6–9.2). Stratified analyses identified additional associations, including elevated prevalence of anencephaly with short IPI in younger mothers and limb defects with long IPI in those ages 25–34 at prior birth. Sensitivity analyses showed similar results. Conclusion: In this population‐based study, we observed increased prevalence of several birth defects with short and long IPI. [ABSTRACT FROM AUTHOR]

Background: Individuals with Down syndrome (DS) have a higher prevalence of additional congenital anomalies, especially cardiovascular defects, compared to the general population. Several reports have indicated that the prevalence of DS among live births varies by race and ethnicity within the United States. We aim to examine variations in co‐occurring congenital anomalies by maternal race/ethnicity among infants and fetuses diagnosed with DS born during 2013–2017. Methods: State birth defect surveillance systems (N = 12) submitted data on infants and fetuses diagnosed with DS born during 2013–2017. We calculated the prevalence of co‐occurring major and minor congenital anomalies, by organ system, and four selected cardiovascular birth defects, all stratified by maternal race/ethnicity. Results: Among 5,836 cases of DS, 79.7% had one or more co‐occurring congenital anomalies. There was a higher percentage of co‐occurring congenital anomalies among infants and fetuses born to Hispanic mothers. The lowest percentage of co‐occurring congenital anomalies, including three out of the four individual cardiovascular conditions examined, was among infants/fetuses born to non‐Hispanic American Indian/Alaska Native mothers. Conclusions: We describe differences in DS co‐occurrence with additional congenital anomalies among maternal racial/ethnic groups. These data may help focus future research on differences among racial/ethnic groups in the diagnosis and reporting of co‐occurring congenital anomalies in infants/fetuses diagnosed with DS. [ABSTRACT FROM AUTHOR]

Background: Down syndrome is the most common chromosomal disorder at birth and is often accompanied by structural birth defects. Current data on major structural defects in this population are limited. Methods: States and territorial population‐based surveillance programs submitted data on identified cases of Down syndrome and identified structural birth defects during 2013–2017. We estimated prevalence by program type and maternal and infant characteristics. Among programs with active case ascertainment, we estimated the prevalence of birth defects by organ system and for specific defects by maternal age (<35, ≥35) and infant sex. Results: We identified 13,376 cases of Down syndrome. Prevalence among all programs was 12.7 per 10,000 live births. Among these children, 75% had at least one reported co‐occurring birth defect diagnosis code. Among 6,210 cases identified by active programs, 66% had a cardiovascular defect with septal defects being the most common: atrial (32.5%), ventricular (20.6%), and atrioventricular (17.4%). Defect prevalence differed by infant sex more frequently than by maternal age. For example, atrioventricular septal defects were more common in female children (20.1% vs. 15.1%) while limb deficiencies were more prevalent in male children (0.4% vs. 0.1%). Conclusions: Our study provides updated prevalence estimates for structural defects, including rare defects, among children with Down syndrome using one of the largest and most recent cohorts to date. These data may aid clinical care and surveillance. [ABSTRACT FROM AUTHOR]

Background: Neonatal abstinence syndrome (NAS) is a withdrawal syndrome in newborns and is frequently caused by maternal opioid use during pregnancy. Our study examines whether NAS is associated with birth defects in Delaware. Methods: We conducted a retrospective analysis of linked Delaware birth certificate data (BCD), hospital discharge data (HDD), and birth defects registry (BDR) data to examine the association between NAS and birth defects for all hospital births to Delaware residents from 2010 to 2017. Birth defects data were abstracted from medical records from Delaware's BDR. We used International Classification of Diseases Ninth and Tenth Revision Clinical Modification (ICD‐9‐CM/ICD‐10‐CM) 779.5 and P96.1 codes to determine NAS using HDD and excluded iatrogenic cases of NAS. We estimated crude and adjusted odds ratio with 95% confidence intervals (CIs). Results: During 2010–2017, there were 2,784 cases of birth defects and 1,651 cases of NAS in Delaware. Among infants with a diagnosis of NAS, 56 also had a birth defect (3.4%), similar to 2,728 birth defects among 79,636 infants without a diagnosis of NAS (3.4%). We found no statistically significant association between an NAS diagnosis and birth defects (adjusted odds ratios = 1.0; 95% CI: 0.8–1.3). Conclusions: Our multiyear state‐wide study using linked BCD, HDD, and BDR data for Delaware did not show a statistically significant association between infants diagnosed with NAS and birth defects, overall. [ABSTRACT FROM AUTHOR]

Background: Using the National Birth Defects Prevention Network (NBDPN) annual data report, U.S. national prevalence estimates for major birth defects are developed based on birth cohort 2010–2014. Methods: Data from 39 U.S. population‐based birth defects surveillance programs (16 active case‐finding, 10 passive case‐finding with case confirmation, and 13 passive without case confirmation) were used to calculate pooled prevalence estimates for major defects by case‐finding approach. Fourteen active case‐finding programs including at least live birth and stillbirth pregnancy outcomes monitoring approximately one million births annually were used to develop national prevalence estimates, adjusted for maternal race/ethnicity (for all conditions examined) and maternal age (trisomies and gastroschisis). These calculations used a similar methodology to the previous estimates to examine changes over time. Results: The adjusted national birth prevalence estimates per 10,000 live births ranged from 0.62 for interrupted aortic arch to 16.87 for clubfoot, and 19.93 for the 12 critical congenital heart defects combined. While the birth prevalence of most birth defects studied remained relatively stable over 15 years, an increasing prevalence was observed for gastroschisis and Down syndrome. Additionally, the prevalence for atrioventricular septal defect, tetralogy of Fallot, omphalocele, and trisomy 18 increased in this period compared to the previous periods. Active case‐finding programs generally had higher prevalence rates for most defects examined, most notably for anencephaly, anophthalmia/microphthalmia, trisomy 13, and trisomy 18. Conclusion: National estimates of birth defects prevalence provide data for monitoring trends and understanding the impact of these conditions. Increasing prevalence rates observed for selected conditions warrant further examination. [ABSTRACT FROM AUTHOR]

Objectives: We investigated differences in prevalence of major birth defects by maternal nativity within racial/ethnic groups for 27 major birth defects. Methods: Data from 11 population‐based birth defects surveillance systems in the United States including almost 13 million live births (approximately a third of U.S. births) during 1999–2007 were pooled. We calculated prevalence estimates for each birth defect for five racial/ethnic groups. Using Poisson regression, crude and adjusted prevalence ratios (aPRs) were also calculated using births to US‐born mothers as the referent group in each racial/ethnic group. Results: Approximately 20% of case mothers and 26% of all mothers were foreign‐born. Elevated aPRs for infants with foreign‐born mothers were found for spina bifida and trisomy 13, 18, and 21, while lower prevalence patterns were found for pyloric stenosis, gastroschisis, and hypospadias. Conclusions: This study demonstrates that birth defects prevalence varies by nativity within race/ethnic groups, with elevated prevalence ratios for some specific conditions and lower prevalence for others. More detailed analyses focusing on a broader range of maternal behaviors and characteristics are required to fully understand the implications of our findings. [ABSTRACT FROM AUTHOR]

Background: Antecedents for infantile hypertrophic pyloric stenosis (IHPS) vary across studies; therefore, we conducted a multistate, population‐based retrospective study of the prevalence and descriptive epidemiology of IHPS in the United States (US). Methods: Data for IHPS cases (n = 29,554) delivered from 1999–2010 and enumerated from 11 US population‐based birth defect surveillance programs, along with data for live births (n = 14,707,418) delivered within the same birth period and jurisdictions, were analyzed using Poisson regression to estimate IHPS prevalence per 10,000 live births. Additional data on deliveries from 1999–2005 from seven of these programs were analyzed using multivariable logistic regression to estimate adjusted prevalence ratios (aPR)s and 95% confidence intervals (CI)s for selected infant and parental characteristics. Results: Overall, IHPS prevalence from 1999–2010 was 20.09 (95% CI = 19.87, 20.32) per 10,000 live births, with statistically significant increases from 2003–2006 and decreases from 2007–2010. Compared to their respective referents, aPRs were higher in magnitude for males, preterm births, and multiple births, but lower for birth weights <2,500 g. The aPRs for all cases increased with decreasing parental age, maternal education, and maternal parity, but decreased for parental race/ethnicity other than non‐Hispanic White. Estimates restricted to isolated cases or stratified by infant sex were similar to those for all cases. Conclusions: This study covers one of the largest samples and longest temporal period examined for IHPS in the US. Similar to findings reported in Europe, estimates suggest that IHPS prevalence has decreased recently in the US. Additional analyses supported associations with several infant and parental characteristics. [ABSTRACT FROM AUTHOR]

Background/Objectives: In this data brief, we examine major eye and ear anomalies (anophthalmia/microphthalmia, anotia/microtia, and congenital cataract) for a recent 5‐year birth cohort using data from 30 population‐based birth defects surveillance programs in the United States. Methods: As a special call for data for the 2018 NBDPN Annual Report, state programs reported expanded data on eye/ear anomalies for birth years 2011–2015. We calculated the combined overall prevalence (per 10,000 live births) and 95% confidence intervals (CI), for the three anomalies as well as by maternal age, maternal race/ethnicity, infant sex, laterality, presence/absence of other major birth defects, and case ascertainment methodology utilized by the program (active vs. passive). Results: The overall prevalence estimate (per 10,000 live births) was 1.5 (95% CI: 1.4–1.5) for anophthalmia/microphthalmia, 1.5 (95% CI: 1.4–1.6) for congenital cataract, and 1.8 (95% CI: 1.7–1.8) for anotia/microtia. Congenital cataract prevalence varied little by maternal race/ethnicity, infant sex, or case ascertainment methodology; prevalence differences were more apparent across strata for anophthalmia/microphthalmia and anotia/microtia. Prevalence among active vs. passive ascertainment programs was 50% higher for anophthalmia/microphthalmia (1.9 vs. 1.2) and two‐fold higher for anotia/microtia (2.6 vs. 1.2). Anophthalmia/microphthalmia was more likely than other conditions to co‐occur with other birth defects. All conditions were more frequent among older mothers (40+ years). Conclusions: This data brief provides recent prevalence estimates for anophthalmia/microphthalmia, congenital cataract, and anotia/microtia that address a data gap by examining pooled data from 30 population‐based surveillance systems, covering a five‐year birth cohort of about 12.4 million births. [ABSTRACT FROM AUTHOR]

Background: Higher prevalence of selected birth defects has been reported among American Indian/Alaska Native (AI/AN) newborns. We examine whether known risk factors for birth defects explain the higher prevalence observed for selected birth defects among this population. Methods: Data from 12 population‐based birth defects surveillance systems, covering a birth population of 11 million from 1999 to 2007, were used to examine prevalence of birth defects that have previously been reported to have elevated prevalence among AI/ANs. Prevalence ratios (PRs) were calculated for non‐Hispanic AI/ANs and any AI/ANs (regardless of Hispanic ethnicity), adjusting for maternal age, education, diabetes, and smoking, as well as type of case‐finding ascertainment surveillance system. Results: After adjustment, the birth prevalence of two of seven birth defects remained significantly elevated among AI/ANs compared to non‐Hispanic whites (NHWs): anotia/microtia was almost threefold higher, and cleft lip +/− cleft palate was almost 70% higher compared to NHWs. Excluding AI/AN subjects who were also Hispanic had only a negligible impact on adjusted PRs. Conclusions: Additional covariates accounted for some of the elevated birth defect prevalences among AI/ANs compared to NHWs. Exclusion of Hispanic ethnicity from the AI/AN category had little impact on birth defects prevalences in AI/ANs. NHWs serve as a viable comparison group for analysis. Birth defects among AI/ANs require additional scrutiny to identify modifiable risk and protective factors. [ABSTRACT FROM AUTHOR]

Background: The 2016 Zika public health response in the United States highlighted the need for birth defect surveillance (BDS) programs to collect population‐based data on birth defects potentially related to Zika as rapidly as possible through enhanced case ascertainment and reporting. The National Birth Defects Prevention Network (NBDPN) assessed BDS program activities in the United States before and after the Zika response. Methods: The NBDPN surveyed 54 BDS programs regarding activities before and after the Zika response, lessons learned, and programmatic needs. Follow‐up emails were sent and phone calls were held for programs with incomplete or no response to the online survey. Survey data were cleaned and tallied, and responses to open‐ended questions were placed into best‐fit categories. Results: A 100% response rate was achieved. Of the 54 programs surveyed, 42 reported participation in the Zika public health response that included BDS activities. Programs faced challenges in expanding their surveillance effort given the response requirements but reported mitigating factors such as establishing and enhancing partnerships and program experience with surveillance and clinical activities. Beyond funding, reported program needs included training, surveillance tools/resources, and availability of clinical experts. Conclusions: Existing BDS programs with experience implementing active case‐finding and case verification were able to adapt their surveillance efforts rapidly to collect and report data necessary for the Zika response. Program sustainability for BDS remains challenging; thus, continued support, training, and resource development are important to ensure that the infrastructure built during the Zika response is available for the next public health response. [ABSTRACT FROM AUTHOR]

Background: Previous studies demonstrate that infant and childhood mortality differ among children with birth defects by maternal race/ethnicity, but limited mortality information is published for Hispanic ethnic subgroups. Methods: We performed a retrospective cohort study using data for children with birth defects born to Hispanic mothers during 1999-2007 from 12 population-based state birth defects surveillance programs. Deaths were ascertained through multiple sources. Survival probabilities were estimated by the Kaplan-Meier method. Cox proportional hazards regression was used to examine the effect of clinical and demographic factors on mortality risk. Results: Among 28,497 Hispanic infants and children with major birth defects, 1-year survival was highest for infants born to Cuban mothers at 94.6% (95% confidence intervals [CI] 92.7-96.0) and the lowest for Mexicans at 90.2% (95% CI 89.7-90.6; p<.0001). For children aged up to 8 years, survival remained highest for Cuban Americans at 94.1% (95% CI 91.8-95.7) and lowest for Mexican Americans at 89.2% (95% CI 88.7-89.7; p5.0002). In the multivariable analysis using non-Hispanic White as the reference group, only infants and children born to Mexican mothers were noted to have a higher risk of mortality for cardiovascular defects. Conclusions: This analysis provides a better understanding of survival and mortality for Hispanic infants and children with selected birth defects. The differences found in survival, particularly the highest survival rates for Cuban American children and lowest for Mexican American children with birth defects, underscores the importance of assessing Hispanic ethnic subgroups, as differences among subgroups appear to exist. [ABSTRACT FROM AUTHOR]

Background Gastrointestinal defects are a phenotypically and etiologically diverse group of malformations. Despite their combined prevalence and clinical impact, little is known about the epidemiology of these birth defects. Therefore, the objective of the 2017 National Birth Defects Prevention Network (NBDPN) data brief was to better describe the occurrence of gastrointestinal defects. Methods As part of the 2017 NBDPN annual report, 28 state programs provided additional data on gastrointestinal defects for the period 2010-2014. Counts and prevalence estimates (per 10,000 live births) were calculated overall and by demographic characteristics for (1) biliary atresia; (2) esophageal atresia/tracheoesophageal fistula; (3) rectal and large intestinal atresia/stenosis; and (4) small intestinal atresia/stenosis. Additionally, we explored the frequency of these malformations co-occurring with other structural birth defects. Results Pooling data from all participating registries, the prevalence estimates were: 0.7 per 10,000 live births for biliary atresia (713 cases); 2.3 per 10,000 live births for esophageal atresia/tracheoesophageal fistula (2,472 cases); 4.2 per 10,000 live births for rectal and large intestinal atresia/stenosis (4,334 cases); and 3.4 per 10,000 live births for small intestinal atresia/stenosis (3,388 cases). Findings related to co-occurring birth defects were especially notable for esophageal atresia/tracheoesophageal fistula, rectal and large intestinal atresia/stenosis, and small intestinal atresia/stenosis, where the median percentage of non-isolated cases was 53.9%, 45.5%, and 50.6%, respectively. Conclusions These population-based prevalence estimates confirm some previous studies, and provide a foundation for future epidemiologic studies of gastrointestinal defects. Exploring the genetic and environmental determinants of these malformations may yield new clues into their etiologies. [ABSTRACT FROM AUTHOR]

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