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Purpose: We examined the total prevalence, trends in prevalence, and age-specific mortality among individuals with anorectal malformation (ARM).Methods: We conducted a retrospective cohort study using data from 24 population- and hospital-based birth defects surveillance programs affiliated with the International Clearinghouse for Birth Defects Surveillance and Research (ICBDSR) from 18 countries and for births from 1974 to 2014. We estimated pooled and program-specific total prevalence per 10,000 total births. Poisson regression was used to assess time trends in prevalence from 2001 to 2012 when most programs contributed data. We calculated selected age-specific proportions of deaths, stratified by case status.Results: The pooled total prevalence of ARM was 3.26 per 10,000 total births (95% Confidence Interval = 3.19, 3.32) for birth years 1974–2014. About 60% of cases were multiple or syndromic. Prevalence of multiple, syndromic, and stillborn cases decreased from 2001 to 2012. The first week mortality proportion was 12.5%, 3.2%, 28.3%, and 18.2% among all, isolated, multiple, and syndromic cases, respectively.Conclusions: ARM is relatively rare, with multiple and syndromic cases showing decreasing prevalence during the study period. Mortality is a concern during the first week of life, and especially among multiple and syndromic cases. Our descriptive epidemiological findings increase our understanding of geographic variation in the prevalence of ARM and can be used to plan needed clinical services. Exploring factors influencing prevalence and mortality among individuals with ARM could inform future studies.

BACKGROUND Fatty acids are crucial in embryologic development, including cardiogenesis. The impact of maternal periconceptional dietary fat intake on the risk of congenital heart defects (CHDs) has not been clearly elucidated. We hypothesized that maternal dietary fat intake during pregnancy is associated with risk of CHDs in offspring. METHODS We analyzed CHD cases and nonmalformed controls from the National Birth Defects Prevention Study, a case-control, multicenter population-based study of birth defects. We used multivariable logistic regression to analyze the association between maternal periconceptional dietary fat intake and occurrence of CHDs. RESULTS We examined 11,393 infants with CHDs (cases) and 11,029 infants without birth defects (controls). Multivariable analysis of maternal dietary fat intake adjusted for maternal energy intake demonstrated modest change in risk for 2 of the 25 CHDs analyzed; otherwise there was no association. Maternal dietary fat intake unadjusted for total energy was associated with increased risk for several CHDs. CONCLUSIONS After adjusting for total energy intake, maternal periconceptional dietary fat intake has a modest association with risk of a few specific CHDs. If maternal dietary fat intake does impact CHD risk, the effect is minimal. IMPACT In this large, case-control study, after adjusting for total caloric intake, maternal periconceptional dietary fat intake was not associated with increased odds of congenital heart defects. This study investigates the hypothesis that women's periconceptional fat intake alters the risk of congenital heart defects in offspring. Our results raise questions about the role maternal fat intake may play in cardiogenesis and risk of congenital heart defects. Additionally, they raise the question about whether maternal lipid metabolism, as opposed to fat intake, may influence cardiac development.

Background Esophageal atresia (EA) affects around 2.3-2.6 per 10,000 births world-wide. Infants born with this condition require surgical correction soon after birth. Most survival studies of infants with EA are locally or regionally based. We aimed to describe survival across multiple world regions.Methods We included infants diagnosed with EA between 1980 and 2015 from 24 birth defects surveillance programs that are members of the International Clearinghouse for Birth Defects Surveillance and Research. We calculated survival as the proportion of liveborn infants alive at 1 month, 1- and 5-years, among all infants with EA, those with isolated EA, those with EA and additional anomalies or EA and a chromosomal anomaly or genetic syndrome. We also investigated trends in survival over the decades, 1980s-2010s.Results We included 6,466 liveborn infants with EA. Survival was 89.4% (95% CI 88.1-90.5) at 1-month, 84.5% (95% CI 83.0-85.9) at 1-year and 82.7% (95% CI 81.2-84.2) at 5-years. One-month survival for infants with isolated EA (97.1%) was higher than for infants with additional anomalies (89.7%) or infants with chromosomal or genetic syndrome diagnoses (57.3%) with little change at 1- and 5-years. Survival at 1 month improved from the 1980s to the 2010s, by 6.5% for infants with isolated EA and by 21.5% for infants with EA and additional anomalies.Conclusions Almost all infants with isolated EA survived to 5 years. Mortality was higher for infants with EA and an additional anomaly, including chromosomal or genetic syndromes. Survival improved from the 1980s, particularly for those with additional anomalies.

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 between July 2015 through June 2019, 75 (8.7%) of which were delivered by cesarean section. Low-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 to 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 influences 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.

Children with congenital heart defects (CHD) have impaired cognitive development. The objective was to determine if children with CHDs differed in academic performance during elementary and middle school years from children without CHDs. Data from the state birth defects registry, Arkansas Reproductive Health Monitoring System (ARHMS), birth certificate records, and achievement test-scores (grades 3-8) from the Arkansas Department of Education were linked using unique identifiers for children born between 2000-2011 in Arkansas. Cases were identified using 6-digit British Paediatric Association codes and matched controls were assigned from birth certificate data. Proficiency (yes/no) on achievement tests was determined using standard thresholds per grade. Data were stratified based on sex, gestational age, and birth weight. Odds ratios (OR) and 95% confidence intervals (CI) were calculated from multivariate logistic regression adjusting for maternal education level and age, race/ethnicity, and infant sex. A total of 3,730 children with CHDs and 7,385 children without CHDs were evaluated. Children with CHD were less likely to be proficient in early elementary school grades for mathematics (3rd: OR=0.72, 95% CI: 0.59, 0.87; 4th: OR=0.77, 95% CI: 0.62, 0.95) and literacy (3rd: OR=0.75, 95% CI: 0.63, 0.89; 4th: OR=0.72, 95% CI: 0.58, 0.90). The trend of being less proficient associated with CHD remained mostly consistent with sex, gestational age, and birth weight. In multivariate analysis, CHD was negatively associated with being proficient in mathematics and literacy. Maternal education (1-3 years beyond high school) was positively associated with test proficiency. Additionally, non-Hispanic (NH) black children had lower odds of being proficient compared to NH white children. Educational performance was negatively associated with CHD in early elementary grades; there was no difference in later grades. However, larger sample sizes in later grades are necessary for reliable estimates. Maternal education and race/ethnicity were significant factors associated with childhood educational performance.

BACKGROUND: Few studies have evaluated associations between birth defects and risk of pediatric cancers by age of attainment. Therefore, we assessed the risk of cancer among children with and without birth defects by age at attainment. METHODS: We examined cancer risk in children ≤14 years with and without birth defects born between 1996 and 2011 by linking data from the Arkansas Reproductive Health Monitoring System, Arkansas Central Cancer Registry, and birth certificates. Age of attainment for cancer was calculated as person-years from birth to cancer diagnosis, death, or end of study period, whichever occurred first. Using Cox proportional hazards models, we evaluated associations by attained age groups (

The aim of the study is to determine the prevalence, outcomes, and survival (among live births [LB]), in pregnancies diagnosed with trisomy 13 (T13) and 18 (T18), by congenital anomaly register and region. Twenty-four population- and hospital-based birth defects surveillance registers from 18 countries, contributed data on T13 and T18 between 1974 and 2014 using a common data-reporting protocol. The mean total birth prevalence (i.e., LB, stillbirths, and elective termination of pregnancy for fetal anomalies [ETOPFA]) in the registers with ETOPFA (n = 15) for T13 was 1.68 (95% CI 1.3-2.06), and for T18 was 4.08 (95% CI 3.01-5.15), per 10,000 births. The prevalence varied among the various registers. The mean prevalence among LB in all registers for T13 was 0.55 (95%CI 0.38-0.72), and for T18 was 1.07 (95% CI 0.77-1.38), per 10,000 births. The median mortality in the first week of life was 48% for T13 and 42% for T18, across all registers, half of which occurred on the first day of life. Across 16 registers with complete 1-year follow-up, mortality in first year of life was 87% for T13 and 88% for T18. This study provides an international perspective on prevalence and mortality of T13 and T18. Overall outcomes and survival among LB were poor with about half of live born infants not surviving first week of life; nevertheless about 10% survived the first year of life. Prevalence and outcomes varied by country and termination policies. The study highlights the variation in screening, data collection, and reporting practices for these conditions.

Background With their unique history of exposure to extensive nuclear testing between 1946 and 1958, descendants of Marshall Island residents may have underappreciated genetic abnormalities, increasing their risk of birth defects. Methods We conducted a retrospective cohort study of resident women with at least one singleton live birth between 1997 and 2013 in northwest Arkansas using state birth certificate data linked to data from the Arkansas Reproductive Health Monitoring System, a statewide birth defects registry. We calculated unadjusted and adjusted prevalence ratios (PR) and 95% confidence intervals (CI) from modified Poisson regression analyses for non-Hispanic (NH) whites, NH-blacks, Hispanics and Marshallese, using NH-whites as the reference group. Results Of the 91,662 singleton births during the study period, 2,488 were to Marshallese women. Due to the relatively small number of Marshallese births, we could not calculate prevalence estimates for some defects. Marshallese infants had higher rates of congenital cataracts (PR = 9.3; 95% CI: 3.1, 27.9). Although the number of defects was low, Marshallese infants also had higher rates of truncus arteriosus (PR = 44.0; 95% CI: 2.2, 896.1). Conclusions Marshallese infants may have increased risk of specific birth defects, but estimates are unstable because of small sample size so results are inconclusive. Larger population-based studies would allow for further investigation of this potential risk among Marshallese infants.

ObjectivesTo assess international trends and patterns of prenatal diagnosis of critical congenital heart defects (CCHDs) and their relation to total and live birth CCHD prevalence and mortality.SettingFifteen birth defect surveillance programmes that participate in the International Clearinghouse for Birth Defects Surveillance and Research from 12 countries in Europe, North and South America and Asia.ParticipantsLive births, stillbirths and elective terminations of pregnancy for fetal anomaly diagnosed with 1 of 12 selected CCHD, ascertained by the 15 programmes for delivery years 2000 to 2014.Results18 243 CCHD cases were reported among 8 847 081 births. The median total prevalence was 19.1 per 10 000 births but varied threefold between programmes from 10.1 to 31.0 per 10 000. CCHD were prenatally detected for at least 50% of the cases in one-third of the programmes. However, prenatal detection varied from 13% in Slovak Republic to 87% in some areas in France. Prenatal detection was consistently high for hypoplastic left heart syndrome (64% overall) and was lowest for total anomalous pulmonary venous return (28% overall). Surveillance programmes in countries that do not legally permit terminations of pregnancy tended to have higher live birth prevalence of CCHD. Most programmes showed an increasing trend in prenatally diagnosed CCHD cases.Discussion and conclusionsPrenatal detection already accounts for 50% or more of CCHD detected in many programmes and is increasing. Local policies and access likely account for the wide variability of reported occurrence and prenatal diagnosis. Detection rates are high especially for CCHD that are more easily diagnosed on a standard obstetric four-chamber ultrasound or for fetuses that have extracardiac anomalies. These ongoing trends in prenatal diagnosis, potentially in combination with newborn pulse oximetry, are likely to modify the epidemiology and clinical outcomes of CCHD in the near future.

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.

IntroductionCongenital heart defects (CHD) are diagnosed up to age 6 in 8-12/1,000 births annually in Western Australia. Recent improvements in management of infants with CHDs has significantly increased survival; approximately 85\% of infants with CHDs live beyond childhood. However, children with CHDs may have increased risk of life-long intellectual disabilities. Objectives and ApproachWe conducted a study of 20,997 children to determine risk of intellectual disability (ID). All singleton, live born infants with CHDs born 1983-2010 were identified from the Western Australian Register for Developmental Anomalies, a statewide birth defects registry (n=6,968). Infants without CHDs born 1983-2010 were randomly selected from birth records (n=14,029). All data were linked to the Western Australia Midwives Notification System to obtain maternal and infant information. Children with ID were identified by linkage to the statewide Intellectual Disability Exploring Answers database. Risk ratios (RR) and 95% confidence intervals (CI) were calculated from multivariable logistic regression analyses. ResultsOf 20,997 children, 965 (4.6%) had an ID; 1.3% of children without CHDs and 11.2% of children with CHDs had an ID (P

Background: Because of advancements in care, there has been a decline in mortality from congenital heart defects (CHDs) over the past several decades. However, there are no current empirical data documenting the number of people living with CHDs in the United States. Our aim was to estimate the CHD prevalence across all age groups in the United States in the year 2010. Methods: The age-, sex-, and severity-specific observed prevalence of CHDs in Québec, Canada, in the year 2010 was assumed to equal the CHD prevalence in the non-Hispanic white population in the United States in 2010. A race-ethnicity adjustment factor, reflecting differential survival between racial-ethnic groups through 5 years of age for individuals with a CHD and that in the general US population, was applied to the estimated non-Hispanic white rates to derive CHD prevalence estimates among US non-Hispanic blacks and Hispanics. Confidence intervals for the estimated CHD prevalence rates and case counts were derived from a combination of Taylor series approximations and Monte Carlo simulation. Results: We estimated that ≈2.4 million people (1.4 million adults, 1 million children) were living with CHDs in the United States in 2010. Nearly 300 000 of these individuals had severe CHDs. Conclusions: Our estimates highlight the need for 2 important efforts: planning for health services delivery to meet the needs of the growing population of adults with CHD and the development of surveillance data across the life span to provide empirical estimates of the prevalence of CHD across all age groups in the United States.