Population-based Birth Defects Surveillance Research Articles

Challenges and Insights Gained During the Implementation of Population-Based Birth Defect (BD) Surveillance in a Tribal District of Maharashtra, India.

Birth Defects (BDs) are a significant contributor to childhood mortality worldwide, yet BD surveillance and management in Low and Middle-Income Countries (LMICs) like India remain under-prioritised. This article presents findings from a population-based BD surveillance conducted in the Palghar district, Maharashtra, India, aimed at identifying challenges and solutions in the implementation of BD surveillance. The data on BDs was collected between April 2021 and March 2023 from 38 Primary Health Centres (PHCs), nine Rural Hospitals (RH) and three Sub-district Hospitals (SDH) from seven tribal blocks of Palghar district. A total of 402 BDs were identified during the study period through facility and community-based approaches. Certain challenges were encountered at different levels of surveillance including underreporting by healthcare workers (ASHAs), non-functional District Early Intervention Centres (DEICs), a non-operational web portal for data entry and parenteral barriers attributing to screening, referral and management of BDs. Measures were taken to overcome these challenges comprising refresher training for ASHAs, the creation of communication channels and the distribution of educational materials. These initiatives encouraged and significantly improved the reporting of Visible BDs (VBDs) through ASHAs and programs (Rashtriya Bal Swasthya Karyakram) at the end of the reporting period. This study highlights that addressing these system shortcomings could be effectively achieved through intersectoral coordination and the involvement of Health Care Workers (HCWs) aligning with programme objectives. It further underscores the need for improved infrastructure and training to enhance BD surveillance effectiveness in South Asian countries, especially in tribal regions.

Temporal trends in the prevalence of major birth defects in China: a nationwide population-based study from 2007 to 2021

BackgroundBirth defects constitute a significant public health issue worldwide, yet there is a lack of comprehensive population-based data for the Chinese population.MethodsWe analyzed data from the China National Population-based Birth Defects Surveillance System from 2007 to 2021, we calculated the prevalence rates of selected birth defects, stratified by maternal residence, geographic region, maternal age, and infant sex. The Joinpoint regression model was utilized to assess trends and annual percent changes in prevalence.ResultsFrom 2007 to 2021, significant downward trends in prevalence were observed for neural tube defects (NTDs), hydrocephalus, cleft lip with or without palate (CL/P), limb reduction defects (LRD), omphalocele, Down syndrome, and tetralogy of Fallot (TOF). Conversely, upward trends were identified for hypospadias, cleft palate (CP), microtia/anotia, polydactyly, syndactyly, ventricular septal defect (VSD), atrial septal defect/patent foramen ovale (ASD/PFO), and patent ductus arteriosus (PDA). Younger mothers exhibited a higher prevalence of hydrocephalus, gastroschisis, CL/P, and polydactyly, while anotia/microtia, Down syndrome, and congenital heart diseases (CHDs) were more common in mothers aged 35 years or older. Significant variations in the prevalence of anencephalus, spina bifida, CL/P, anorectal atresia/stenosis, hypospadias, polydactyly, syndactyly, VSD, ASD/PFO, and PDA were found across different maternal residences and geographic regions.ConclusionThis study highlights the diverse trends and prevalence patterns of major birth defects, underscoring the necessity for defect-specific public health interventions.Graphical abstract

Prevalence of congenital cryptorchidism in China: A nationwide population-based surveillance study, 2007-2021.

Despite cryptorchidism being a common genital abnormality in male newborns with significant prevalence variations globally, there is a notable scarcity of epidemiological data on this condition in China. This study aimed to delineate the prevalence pattern of cryptorchidism in Chinese population over the past 15 years using nationwide surveillance data. Data from the China National Population-based Birth Defects Surveillance System (2007-2021) were analyzed to calculate the prevalence rates of cryptorchidism, stratified by birth year, maternal age, maternal residence, and geographic region. Adjusted prevalence rate ratios were computed using Poisson regression, while trends in prevalence and average annual percent change (AAPC) were assessed using the joinpoint regression model. During the study period, a total of 1,833 cases of cryptorchidism were identified among 2,565,964 full-term male births, resulting in prevalence rates of 7.14, 5.60, and 1.54 per 10,000 births for overall, isolated, and associated cryptorchidism, respectively. The overall prevalence increased from 3.86 to 11.20 per 10,000 births, with an AAPC of 7.9% (95% confidence interval: 5.5-11.0). Significant variations were observed across maternal age (<20 years, 7.62/10,000; 20-24 years, 6.14/10,000; 25-29 years, 6.96/10,000; 30-34 years, 7.48/10,000; ≥35 years, 9.22/10,000), maternal residence (urban vs. rural, 10.99/10,000vs. 2.86/10,000), and geographic region (eastern, 12.38/10,000; central, 2.36/10,000; western, 2.63/10,000). Approximately one-third of cryptorchidism cases were bilaterally, while two-thirds were unilateral. Commonly observed associated abnormalities included congenital hydrocele testis, as well as anomalies in the genital organs, circulatory system, and musculoskeletal system. Despite lower rates compared to other countries, the increasing trend in prevalence of cryptorchidism necessitates further investigation and intervention.

Prevalence and death rate of birth defects from population-based surveillance in Hunan Province, China, 2010–2020

To describe the prevalence and death rate of birth defects from population-based surveillance in Hunan Province, China. Data were obtained from the population-based Birth Defects Surveillance System in Hunan Province, China (2010–2020). The surveillance population included all live births, stillbirths, infant deaths, and legal terminations of pregnancy from 28 weeks of gestation to 42 days after birth between 2010 and 2020 when the mother resided in the surveillance area (Liuyang County and Shifeng District, Hunan Province). The prevalence of birth defects is the number of birth defects per 1000 infants (‰). The death rate of birth defects is the number of deaths attributable to birth defects per 100 birth defects (%). The prevalence and death rate with 95% confidence intervals (CI) were calculated by the log-binomial method. Crude odds ratios (ORs) were calculated to examine the association of each demographic characteristic with birth defects. Our study included 228,444 infants, and 4453 birth defects were identified, with a prevalence of 19.49‰ (95%CI 18.92–20.07). Congenital heart defects were the most common specific defects (5.29‰), followed by limb defects (4.01‰). Birth defects were more common in males than females (22.34‰ vs. 16.26‰, OR = 1.38, 95%CI 1.30–1.47), in premature birth than not (91.82‰ vs. 16.14‰, OR = 6.16, 95%CI 5.72–6.65), in birth weight < 2500 g (98.26‰ vs. 16.22‰, OR = 6.61, 95%CI 6.11–7.15) or > 4000 g (19.48‰ vs. 16.22‰, OR = 1.21, 95%CI 1.03–1.42) than birth weight 2500–4000 g, in hospitalized deliveries than other institutions (22.16‰ vs. 11.74‰, OR = 1.91, 95%CI 1.76–2.07), in multiple births than singletons (28.50‰ vs. 19.28‰, OR = 1.49, 95%CI 1.27–1.76), in maternal age < 20 years (26.33‰ vs. 18.69‰, OR = 1.42, 95%CI 1.15–1.76) or > = 35 years (24.31‰ vs. 18.69‰, OR = 1.31, 95%CI 1.18–1.45) than maternal age 25–29 years, and in number of pregnancies > = 4 (22.91‰ vs. 18.92‰, OR = 1.22, 95%CI 1.10–1.35) than the first pregnancy. A total of 747 deaths attributable to birth defects were identified, including 603 (80.72%) stillbirths, 75 (10.04%) deaths within 7 days after birth, 46 (6.16%) deaths in 7–27 days after birth, 23 (3.08%) deaths in 28–42 days after birth. The death rate of birth defects was 16.78% (95%CI 15.57–17.98). Deaths attributable to birth defects accounted for 51.09% (747/1462) of all deaths. Central nervous system defects had the highest death rate (90.27%), and neonatal genetic metabolic defects had the lowest death rate (0.39%). In summary, we have described the prevalence and epidemiology of birth defects from population-based surveillance in Hunan Province, China, 2010–2020. There were differences in the prevalence and death rate of birth defects between population-based surveillance and hospital-based surveillance.

Maternal PM2.5 exposure and hypospadias risk in Chinese offspring: Insights from a nationwide surveillance-based study

Research on the association between maternal PM2.5 exposure and hypospadias risk in male offspring, particularly in highly polluted areas, has been limited and inconsistent. This study leveraged data from China’s National Population-based Birth Defects Surveillance System spanning the years 2013 to 2019, and employed sophisticated machine learning models to estimate daily PM2.5 levels and other pollutants for mothers at a 1-km resolution and a 6-km buffer surrounding maternal residences. Multivariate logistic regression analyses were performed to evaluate the relationship between PM2.5 exposure and hypospadias risk. For sensitivity analyses, stratification analysis was conducted, and models for one-pollutant and two-pollutants, as well as distributed lag nonlinear models, were constructed. Of the 1194,431 boys studied, 1153 cases of hypospadias were identified. A 10 μg/m3 increase in maternal PM2.5 exposure during preconception and the first trimester was associated with an elevated risk of isolated hypospadias, with Odds Ratios (ORs) of 1.102 (95% CI: 1.023–1.188) and 1.089 (95% CI: 1.007–1.177) at the 1-km grid, and 1.122 (95% CI: 1.034–1.218) and 1.143 (95% CI: 1.048–1.246) within the 6-km buffer. Higher quartiles of PM2.5 exposure were associated with increased odds ratios compared to the lowest quartile. These findings highlight a significant association between PM2.5 exposure during the critical conception period and an elevated risk of isolated hypospadias in children, emphasizing the need for targeted interventions to reduce PM2.5 exposure among expectant mothers.

Multivariate logistic regression analysis of risk factors for birth defects: a study from population-based surveillance data

ObjectiveTo explore risk factors for birth defects (including a broad range of specific defects).MethodsData were derived from the Population-based Birth Defects Surveillance System in Hunan Province, China, 2014–2020. The surveillance population included all live births, stillbirths, infant deaths, and legal termination of pregnancy between 28 weeks gestation and 42 days postpartum. The prevalence of birth defects (number of birth defects per 1000 infants) and its 95% confidence interval (CI) were calculated. Multivariate logistic regression analysis (method: Forward, Wald, α = 0.05) and adjusted odds ratios (ORs) were used to identify risk factors for birth defects. We used the presence or absence of birth defects (or specific defects) as the dependent variable, and eight variables (sex, residence, number of births, paternal age, maternal age, number of pregnancies, parity, and maternal household registration) were entered as independent variables in multivariate logistic regression analysis.ResultsOur study included 143,118 infants, and 2984 birth defects were identified, with a prevalence of 20.85% (95%CI: 20.10–21.60). Multivariate logistic regression analyses showed that seven variables (except for parity) were associated with birth defects (or specific defects). There were five factors associated with the overall birth defects. The risk factors included males (OR = 1.49, 95%CI: 1.39–1.61), multiple births (OR = 1.44, 95%CI: 1.18–1.76), paternal age < 20 (OR = 2.20, 95%CI: 1.19–4.09) or 20–24 (OR = 1.66, 95%CI: 1.42–1.94), maternal age 30–34 (OR = 1.16, 95%CI: 1.04–1.29) or > = 35 (OR = 1.56, 95%CI: 1.33–1.81), and maternal non-local household registration (OR = 2.96, 95%CI: 2.39–3.67). Some factors were associated with the specific defects. Males were risk factors for congenital metabolic disorders (OR = 3.86, 95%CI: 3.15–4.72), congenital limb defects (OR = 1.34, 95%CI: 1.14–1.58), and congenital kidney and urinary defects (OR = 2.35, 95%CI: 1.65–3.34). Rural areas were risk factors for congenital metabolic disorders (OR = 1.21, 95%CI: 1.01–1.44). Multiple births were risk factors for congenital heart defects (OR = 2.09, 95%CI: 1.55–2.82), congenital kidney and urinary defects (OR = 2.14, 95%CI: 1.05–4.37), and cleft lip and/or palate (OR = 2.85, 95%CI: 1.32–6.15). Paternal age < 20 was the risk factor for congenital limb defects (OR = 3.27, 95%CI: 1.10–9.71), 20–24 was the risk factor for congenital heart defects (OR = 1.64, 95%CI: 1.24–2.17), congenital metabolic disorders (OR = 1.56, 95%CI: 1.11–2.21), congenital limb defects (OR = 1.61, 95%CI: 1.14–2.29), and congenital ear defects (OR = 2.13, 95%CI: 1.17–3.89). Maternal age < 20 was the risk factor for cleft lip and/or palate (OR = 3.14, 95%CI: 1.24–7.95), 30–34 was the risk factor for congenital limb defects (OR = 1.37, 95%CI: 1.09–1.73), >=35 was the risk factor for congenital heart defects (OR = 1.51, 95%CI: 1.14–1.99), congenital limb defects (OR = 1.98, 95%CI: 1.41–2.78), and congenital ear defects (OR = 1.82, 95%CI: 1.06–3.10). Number of pregnancies = 2 was the risk factor for congenital nervous system defects (OR = 2.27, 95%CI: 1.19–4.32), >=4 was the risk factor for chromosomal abnormalities (OR = 2.03, 95%CI: 1.06–3.88) and congenital nervous system defects (OR = 3.03, 95%CI: 1.23–7.47). Maternal non-local household registration was the risk factor for congenital heart defects (OR = 3.57, 95%CI: 2.54–5.03), congenital metabolic disorders (OR = 1.89, 95%CI: 1.06–3.37), congenital limb defects (OR = 2.94, 95%CI: 1.86–4.66), and congenital ear defects (OR = 3.26, 95%CI: 1.60–6.65).ConclusionIn summary, several risk factors were associated with birth defects (including a broad range of specific defects). One risk factor may be associated with several defects, and one defect may be associated with several risk factors. Future studies should examine the mechanisms. Our findings have significant public health implications as some factors are modifiable or avoidable, such as promoting childbirths at the appropriate age, improving the medical and socio-economic conditions of non-local household registration residents, and devoting more resources to some specific defects in high-risk groups, which may help reducing birth defects in China.

Analysis of Pregnancy Outcomes Following Exposure to Intramuscular Interferon Beta-1a: The AVONEX® Pregnancy Exposure Registry.

There is a lack of well-controlled US studies of intramuscular (IM) interferon beta (IFNβ)-1a use in pregnant women with multiple sclerosis; however, in the European Medicines Agency region, IFNβ formulations may be considered during pregnancy if clinically needed based on data from European Union cohort registries. The AVONEX Pregnancy Exposure Registry was established to prospectively study the effects of IM IFNβ-1a on the risk of birth defects and spontaneous pregnancy loss in a US population. Pregnant women with multiple sclerosis exposed to IM IFNβ-1a within ~ 1 week of conception or during the first trimester were included. Participants were followed until there was a pregnancy outcome, live-born infants were followed until age 8-12 weeks. Data were collected on IM IFNβ-1a exposure, demographics, patient characteristics, medical history, and pregnancy outcomes, including live births (with or without birth defect), spontaneous abortions/miscarriages and fetal death/stillbirth, elective abortions (with and without birth defect), and ectopic pregnancies. A population-based birth defect surveillance program, the Metropolitan Atlanta Congenital Defects Program (MACDP), served as the primary external control group for evaluating the risk of birth defects. Three-hundred and two patients with a median (range) age of 31.0 (16-48) years and a median (range) gestational age at the time of enrollment of 10.1 (4-39) weeks were evaluable. Most patients (n = 278/302; 92%) reported IM IFNβ-1a exposure in the week before conception and most (n = 293/302; 97%) discontinued treatment before the end of the first trimester. Of 306 pregnancy outcomes, there were 272 live births, 28 spontaneous abortions of 266 pregnancies enrolled before 22 weeks' gestation (rate 10.5%; 95% confidence interval 7.2-15.0), five elective abortions, and one stillbirth. There were 17 adjudicator-confirmed major birth defects of 272 live births (rate 6.3%; 95% confidence interval 3.8-10.0); the pattern of birth defects observed was not suggestive of a relationship to prenatal IM IFNβ-1a exposure. This large US registry study suggests IM IFNβ-1a exposure during early pregnancy was not clinically associated with adverse pregnancy outcomes in women with multiple sclerosis. These findings help inform clinicians and patients in weighing the risks and benefits of IM IFNβ-1a use during pregnancy. ClinicalTrials.gov: NCT00168714, 15 September, 2005.

Narrowing the Survival Gap: Trends in Survival of Individuals with Down Syndrome with and without Congenital Heart Defects Born 1979 to 2018

To evaluate the hypothesis that childhood survival for individuals with Down syndrome (DS) and congenital heart defects (CHDs) has improved in recent years, approaching the survival of those with DS without CHDs. Individuals with DS born from 1979 to 2018 were identified through the Metropolitan Atlanta Congenital Defects Program, a population-based birth defects surveillance system administered by the Centers for Disease Control and Prevention. Survival analysis was performed to evaluate predictors of mortality for those with DS. The cohort included 1671 individuals with DS; 764 had associated CHDs. The 5-year survival in those with DS with CHD improved steadily among individuals born in the 1980s through the 2010s (from 85% to 93%; P=.01), but remained stable (96% to 95%; P=.97) in those with DS without CHDs. The presence of a CHD was not associated with mortality through 5years of age for those born 2010 or later (hazard ratio, 2.63; 95% CI, 0.95-8.37). In multivariable analyses, atrioventricular septal defects were associated with early (<1year) and late (>5year) mortality, whereas ventricular septal defects were associated with intermediate (1-5years) mortality and atrial septal defects with late mortality, when adjusting for other risk factors. The gap in 5-year survival between children with DS with and without CHDs has improved over the last 4 decades. Survival after 5years remains lower for those with CHDs, although longer follow-up is needed to determine if this difference lessens for those born in the more recent years.

Trends in Delayed Diagnosis of Critical Congenital Heart Defects in an Era of Enhanced Screening, 2004-2018

To describe trends in delayed diagnosis of critical congenital heart defects (CCHDs) with prenatal and postnatal screening advances. We evaluated a retrospective cohort of live births with CCHD delivered between 2004 and 2018 from a statewide, population-based birth defects surveillance system in Massachusetts. Demographic information were obtained from vital records. We estimated timely (prenatal or birth/transfer hospital) and delayed diagnosis (after discharge) proportions by year and time periods coinciding with the transition to mandatory pulse oximetry in2015. We identified 1524 eligible CCHD cases among 1 087 027 live births. By 2018, 92% of cases received a timely diagnosis, most prenatally. From 2004 to 2018, prenatal diagnosis increased from 46% to 76% of cases, while hospital diagnosis decreased from 38% to 17%, and delayed diagnosis declined from 16% to 7%. These trends were consistent across all characteristics evaluated. Among cases without a prenatal diagnosis, the proportion with delayed diagnosis did not change over time, even after implementation of mandatory pulse oximetry screening. Prenatal detection increased the most among severe cases (treated or died in first month of life). Well-appearing newborns without prenatal diagnosis made up 79% of delayed diagnosis cases by 2015-2018. Delayed diagnosis was most common for coarctation. While prenatal diagnosis of CCHD increased dramatically, there was no reduction in delayed diagnosis among postnatally diagnosed infants, even after pulse oximetry screening became mandatory. Pulse oximetry may not reduce delayed diagnosis in settings with high prenatal detection, and other strategies are needed to ensure timely diagnosis of well-appearing newborns.

Maternal Exposure to PM2.5 and the Risk of Congenital Heart Defects in 1.4 Million Births: A Nationwide Surveillance-Based Study.

Evidence remains limited about the association of maternal exposure to ambient fine particulate matter (airborne particles with an aerodynamic diameter ≤2.5 µm [PM2.5]) with fetal congenital heart defects (CHDs) in highly polluted regions, and few studies have focused on preconception exposure. Using a nationwide surveillance-based case-control design in China, we examined the association between maternal exposure to PM2.5 during periconception (defined as 3 months before conception until 3 months into pregnancy) and risk of CHD in offspring. The study included 1 434 998 births involving 7335 CHDs from 2014 through 2017 on the basis of the National Population-Based Birth Defects Surveillance System, covering 30 provinces, municipalities, or municipal districts in China. We assigned maternal PM2.5 exposure during the periconception period to each participant using satellite-based PM2.5 concentrations at 1-km spatial resolution. Multilevel logistic regression models were used to calculate the multivariable-adjusted odds ratio and 95% CI for CHDs in offspring associated with maternal PM2.5 exposure, and the exposure-response association was investigated using restricted cubic spline analysis. Subgroup or sensitivity analyses were conducted to identify factors that may modify the association. The average maternal exposure to PM2.5 levels across all participants was 56.51 μg/m3 (range, 10.95 to 182.13 μg/m3). For each 10 μg/m³ increase in maternal PM2.5 exposure, the risk of CHDs in offspring was increased by 2% (odds ratio, 1.02 [95% CI, 1.00 to 1.05]), and septal defect was the most influenced subtype (odds ratio, 1.04 [95% CI, 1.01 to 1.08]). The effect of PM2.5 on CHD risk was more pronounced during the preconception period. Mothers <35 years of age, those living in northern China, and those living in low-income areas were more susceptible to PM2.5 exposure than their counterparts (all P<0.05). PM2.5 exposure showed a linear association with total CHDs or specific CHD types. High maternal PM2.5 exposure, especially during the preconception period, increases risk of certain types of CHD in offspring. These findings are useful for CHD prevention and highlight the public health benefits of improving air quality in China and other highly polluted regions.

Non-Isolated Neural Tube Defects with Comorbid Malformations Are Responsive to Population-Level Folic Acid Supplementation in Northern China.

Simple SummaryNeural tube defects are severe congenital malformations of the central nervous system. Some cases also have comorbid malformations in other organ systems, which cause morbidity and mortality in affected individuals. Although folic acid is effective in preventing neural tube defects, whether folic acid prevents those cases which have comorbid malformations, or only isolated neural tube defects is unknown. In this study, we described the epidemiology of neural tube defects with comorbid malformations and assessed the impact of folic acid supplementation. We found the prevalence of neural tube defects with comorbid malformations decreased after population-level folic acid supplementation in northern China. Malformations of various organ systems are more common in people with neural tube defects, suggesting common etiology. For fetuses with NTDs, clinicians are also suggested to consider screening for possible comorbid congenital malformations. Objective: Comorbid congenital malformation of multiple organs may indicate a shared genetic/teratogenic causality. Folic acid supplementation reduces the population-level prevalence of isolated neural tube defects (NTDs), but whether complex cases involving independent malformations are also responsive is unknown. We aimed to describe the epidemiology of NTDs with comorbid malformations in a Chinese population and assess the impact of folic acid supplementation. Study Design: Data from five counties in Northern China were obtained between 2002 and 2021 through a population-based birth defects surveillance system. All live births, stillbirths, and terminations because of NTDs at any gestational age were recorded. NTDs were classified as spina bifida, anencephaly, or encephalocele. Isolated NTDs included spina bifida cases with presumed secondary malformations (hydrocephalus, hip dislocation, talipes). Non-isolated NTDs were those with independent concomitant malformations. Results: A total of 296,306 births and 2031 cases of NTDs were recorded from 2002–2021. A total of 4.8% of NTDs (97/2031) had comorbid defects, which primarily affected the abdominal wall (25/97), musculoskeletal system (24/97), central nervous system (22/97), and face (15/97). The relative risk of cleft lip and/or palate, limb reduction defects, hip dislocation, gastroschisis, omphalocele, hydrocephalus, and urogenital system defects was significantly greater in infants with NTDs than in the general population. Population-level folic acid supplementation significantly reduced the prevalence of both isolated and non-isolated NTDs. Conclusion: Epidemiologically, non-isolated NTDs follow similar trends as isolated cases and are responsive to primary prevention by folic acid supplementation. Various clinically-important congenital malformations are over-represented in individuals with NTDs, suggesting a common etiology.

Prevalence and Clustering of Congenital Heart Defects Among Boys With Hypospadias

Hypospadias is a common birth defect of the male urinary tract that may be isolated or may co-occur with other structural malformations, including congenital heart defects (CHDs). The risk for co-occurring CHDs among boys with hypospadias remains unknown, which limits screening and genetic testing strategies. To characterize the risk of major CHDs among boys born with hypospadias. This retrospective cohort study used data from population-based birth defect surveillance programs on all male infants born in 11 US states from January 1, 1995, to December 31, 2014. Statistical analysis was performed from September 2, 2020, to March 25, 2022. Hypospadias. Demographic and diagnostic data were obtained from 2 active state-based birth defect surveillance programs for primary analyses, the Texas Birth Defects Registry and the Arkansas Reproductive Health Monitoring System, with validation among 9 additional states in the National Birth Defects Prevention Network (NBDPN). Birth defect diagnoses were identified using the British Pediatric Association coding for hypospadias (exposure) and major CHDs (primary outcomes). Maternal covariates and birth year were also abstracted from the vital records. Poisson regression was used to estimate adjusted prevalence ratios and 95% CIs for major CHDs within Texas and Arkansas and combined using inverse variance-weighted meta-analysis. Findings were validated using the NBDPN. Among 3.7 million pregnancies in Texas and Arkansas, 1485 boys had hypospadias and a co-occurring CHD. Boys with hypospadias were 5.8 times (95% CI, 5.5-6.1) more likely to have a co-occurring CHD compared with boys without hypospadias. Associations were observed for every specific CHD analyzed among boys with hypospadias, occurred outside of chromosomal anomalies, and were validated in the NBDPN. An estimated 7.024% (95% CI, 7.020%-7.028%) of boys with hypospadias in Texas and 5.503% (95% CI, 5.495%-5.511%) of boys with hypospadias in Arkansas have a co-occurring CHD. In addition, hypospadias severity and maternal race and ethnicity were independently associated with the likelihood for hypospadias to co-occur with a CHD; boys in Texas with third-degree (ie, more severe) hypospadias were 2.7 times (95% CI, 2.2-3.4) more likely than boys with first-degree hypospadias to have a co-occurring CHD, with consistent estimates in Arkansas (odds ratio, 2.7; 95% CI, 1.4-5.3), and boys with hypospadias born to Hispanic mothers in Texas were 1.5 times (95% CI, 1.3-1.8) more likely to have a co-occurring CHD than boys with hypospadias born to non-Hispanic White mothers. In this cohort study, boys with hypospadias had a higher prevalence of CHDs than boys without hypospadias. These findings support the need for consideration of additional CHD screening programs for boys born with hypospadias.

Association between maternal exposure to chemical fertilizer and the risk of birth defects in a rural population in northern China: a population-based study.

Maternal exposure to pesticides during early pregnancy is associated with increased risks of birth defects, while the association between maternal exposure to chemical fertilizer during pregnancy and the risk of birth defects remains unknown. Data were from a population-based birth defects surveillance system between 2007 and 2012 in Pingding County, Shanxi Province, northern China. A total of 14074 births with 235 birth defects were used to estimate spatial clustering and correlations at the village level. A population-based case-control study of 157 cases with birth defects and 204 controls was performed to investigate the association between maternal chemical fertilizer exposure and the risk of birth defects by a two-level logistic model. The total prevalence of birth defects between 2007 and 2012 was 167.0/10000 births. The spatial analysis indicated a remarkable high-risk area of birth defects in the southeast of Pingding County and the use of chemical fertilizer was associated with the risk of birth defects at the village level. After adjusting for confounders at the individual level, mothers who live in villages with chemical fertilizer application ≥65 tons/y had an increased risk of birth defects (adjusted odds ratio 2.06 [95% confidence interval 1.23 to 3.46]) compared with those of <65 tons/y. Our findings suggest that the risk of birth defects may be associated with the use of chemical fertilizer in rural northern China. The findings must be cautiously interpreted and need to be investigated on larger samples.

Abstract 245: Increased Prevalence Of Children With Congenital Heart Disease In Colorado From 2012 - 2019

Introduction: Congenital heart defects (CHD) are the most common birth defects and are estimated to affect almost 1% of births per year in the US. Most CHD prevalence estimates are based on data from population-based birth defects surveillance systems and these estimates are inconsistent due to varied definitions. It is therefore important to derive high-quality, population-based estimates of the prevalence of CHD to help care for this vulnerable population. Methods: We analyzed all payer claims data (APCD) from Colorado from 2012-2019. Children with CHD were identified by applying CHD ICD-9 and ICD-10 diagnoses codes from the Society of Thoracic Surgeons (STS) International Society for Nomenclature of Paediatric and Congenital Heart Disease (ISNPCHD) harmonized cardiac codes. We included children with CHD &lt; 18 years of age who resided in Colorado, had a documented zip code, and had at least one ambulatory healthcare claim. We analyzed the test for linear trends in the proportion of CHD diagnoses from 2012-2019 with the Cochran-Armitage (Z) test. Differences among patient characteristics and CHD diagnosis were tested using the Pearson Chi-square test and Wilcoxon rank sum tests as appropriate. Results: Overall the current study analyzed 1,565,438 children with 36,567 CHD diagnoses (i.e. 23.4 per 1,000 live births), comprising 2.3% of the pediatric population. Between 2012 and 2019 the statewide rate of children diagnosed with CHD significantly increased from 21.9 to 32.3 per 1,000 children per year (Z: 5.38; p&lt;0.001). There were statistically significant differences in the magnitude of the trend in CHD prevalence rate by region (Z: -31.82), urban-rural residence (Z:-24.02), degree of chronic complex conditions (Z: -38.78), disease severity (Z: -44.11), age (Z: -72.89), insurance type (Z: 46.51) and median household income (Z: 12.87; all p&lt;0.001). Conclusion: The current study is the first population-level analysis of pediatric CHD in the US and these findings suggest that the statewide CHD prevalence rate has increased significantly since 2012. Children with CHD are a priority population for quality improvement in pediatrics given their growing prevalence and corresponding risk of adverse outcomes.

Strengthening home-based postnatal care of rural area of two districts of Haryana using mobile phone technology

Introduction: Home-based postnatal care (HBPNC) plays an important role in improving the survival of mothers and newborns by complementing facility-based care. In India, HBPNC was initiated in 2011 under National Rural Health Mission, but the coverage and quality of postnatal care still remain a challenge. In the present study, we describe the methodology used in strengthening the existing HBPNC by utilizing mobile phone technology. Material &amp; Methods: The study was conducted in the rural population of two districts of Haryana in collaboration with the National Health Mission Haryana and Survival for Women and Children (SWACH) foundation. The Accredited Social Health Activists (ASHAs) in the study area were provided a mobile phone and training related to the use of mobile technology, their roles, responsibility, and the information to be shared through phone and its purpose. Results: Along with providing home-based post-partum care, a total of 120,654 births (from May 2015 to August 2019) with detailed outcomes of pregnancy have been reported to SWACH. Population-based birth defect surveillance, stillbirth surveillance, and investigation of neonatal deaths are being done successfully using the same platform. Deaths are also being investigated by verbal autopsy. Age- and stage-specific participatory learning groups for action have been created on mobile phones for pregnant women, postnatal mothers to provide support, and interactive education to improve the maternal, newborn, and child health. Conclusion: It is feasible to strengthen the existing HBPNC with mobile phone technology to improve maternal and child health further. Vital events can be captured on an ongoing basis through ASHA as a key informant.

Advance Care Directives Among a Population-Based Sample of Young Adults with Congenital Heart Defects, CH STRONG, 2016-2019.

Little is known about advance care planning among young adults with congenital heart defects (CHD). Congenital Heart Survey to Recognize Outcomes, Needs, and well-beinG (CH STRONG) participants were born with CHD between 1980 and 1997, identified using active, population-based birth defects surveillance systems in Arkansas, Arizona and Atlanta, and Georgia, and surveyed during 2016-2019. We estimated the percent having an advance care directive standardized to the site, year of birth, sex, maternal race, and CHD severity of the 9312 CH STRONG-eligible individuals. We calculated adjusted odds ratios (aOR) and 95% confidence intervals (CI) for characteristics associated with having advance care directives. Of 1541 respondents, 34.1% had severe CHD, 54.1% were female, and 69.6% were non-Hispanic white. After standardization, 7.3% had an advance care directive (range: 2.5% among non-Hispanic blacks to 17.4% among individuals with "poor" perceived health). Individuals with severe CHD (10.5%, aOR = 1.6, 95% CI: 1.1-2.3), with public insurance (13.1%, aOR = 1.7, 95% CI: 1.1-2.7), with non-cardiac congenital anomalies (11.1%, aOR = 1.9, 95% CI: 1.3-2.7), and who were hospitalized in the past year (13.3%, aOR = 1.8, 95% CI: 1.1-2.8) were more likely than their counterparts to have advance care directives. Individuals aged 19-24years (6.6%, aOR = 0.4, 95% CI: 0.3-0.7) and 25-30years (7.6%, aOR = 0.5, 95% CI: 0.3-0.8), compared to 31-38years (14.3%), and non-Hispanic blacks (2.5%), compared to non-Hispanic whites (9.5%, aOR = 0.2, 95% CI: 0.1-0.6), were less likely to have advance care directives. Few young adults with CHD had advance care directives. Disparities in advance care planning may exist.

Birth Defects Data From Population-Based Birth Defects Surveillance System in a District of Southern Jiangsu, China, 2014-2018.

As a population-based national surveillance region, Tianning District confronts with great challenges in birth defects (BDs) prevention. We aimed to describe the epidemiology of BDs in infants (including dead fetus, stillbirth, or live birth between 28 weeks of gestation and 42 days after birth) in Tianning District from 2014 to 2018. The data was collected from the national birth defect surveillance system. The prevalence rates of BDs were calculated by poisson distribution. Trends of incidence and the associations of regarding perinatal characteristics with BDs were analyzed by poisson regression. During the study period, the prevalence of BD was 155.49 per 10,000 infants. The ten leading BDs were congenital heart defects (CHD), polydactyly, Congenital malformation of kidney (CMK), syndactyly, cleft palate, hypospadias, Congenital hypothyroidism (CH), congenital atresia of rectum and anus, congenital talipes equinovarus (CTE), and microtia. A significant increase in the prevalence of CHD was observed with a prevalence rate ratio (PRR) of 1.191. Gravidity ≥ 3 (PRR = 1.38) and multiple births (PRR = 2.88) were risk factors for BDs. Premature delivery (PRR = 4.29), fetal death or stillbirth (PRR = 24.79), and infant death (PRR = 43.19) were adverse consequences of BDs. Strengthening publicity and education, improving the ability of diagnosis and monitoring, expanding surveillance time quantum of BDs system may be warranted.

Population-Based Surveillance for Birth Defects Potentially Related to Zika Virus Infection - 22 States and Territories, January 2016-June 2017.

Zika virus infection during pregnancy can cause congenital brain and eye abnormalities and is associated with neurodevelopmental abnormalities (1-3). In areas of the United States that experienced local Zika virus transmission, the prevalence of birth defects potentially related to Zika virus infection during pregnancy increased in the second half of 2016 compared with the first half (4). To update the previous report, CDC analyzed population-based surveillance data from 22 states and territories to estimate the prevalence of birth defects potentially related to Zika virus infection, regardless of laboratory evidence of or exposure to Zika virus, among pregnancies completed during January 1, 2016-June 30, 2017. Jurisdictions were categorized as those 1) with widespread local transmission of Zika virus; 2) with limited local transmission of Zika virus; and 3) without local transmission of Zika virus. Among 2,004,630 live births, 3,359 infants and fetuses with birth defects potentially related to Zika virus infection during pregnancy were identified (1.7 per 1,000 live births, 95% confidence interval [CI]=1.6-1.7). In areas with widespread local Zika virus transmission, the prevalence of birth defects potentially related to Zika virus infection during pregnancy was significantly higher during the quarters comprising July 2016-March 2017 (July-September 2016=3.0; October-December 2016=4.0; and January-March 2017=5.6 per 1,000 live births) compared with the reference period (January-March 2016) (1.3 per 1,000). These findings suggest a fourfold increase (prevalence ratio [PR]=4.1, 95% CI=2.1-8.4) in birth defects potentially related to Zika virus in widespread local transmission areas during January-March 2017 compared with that during January-March 2016, with the highest prevalence (7.0 per 1,000 live births) in February 2017. Population-based birth defects surveillance is critical for identifying infants and fetuses with birth defects potentially related to Zika virus regardless of whether Zika virus testing was conducted, especially given the high prevalence of asymptomatic disease. These data can be used to inform follow-up care and services as well as strengthen surveillance.

Rationale and design of CH STRONG: Congenital Heart Survey To Recognize Outcomes, Needs, and well-beinG

Individuals with CHD born between 1980 and 1997 were identified using active, population-based birth defects surveillance systems from 3 US locations (Arkansas [AR]; Arizona [AZ]; and Atlanta, Georgia [GA]) linked to death records. Individuals with current contact information responded to mailed survey materials during 2016 to 2019. Respondents and nonrespondents were compared using χ2 tests. Sites obtained contact information for 74.6% of the 9,312 eligible individuals alive at recruitment. Of those, 1,656 returned surveys, either online (18.1%) or via paper (81.9%), for a response rate of 23.9% (AR: 18.3%; AZ: 30.7%; Atlanta, GA: 28.0%; P value < .01). For 20.0% of respondents, a proxy completed the survey, with 63.9% reporting that the individual with CHD was mentally unable. Among respondents and nonrespondents, respectively, sex (female: 54.0% and 47.3%), maternal race/ethnicity (non-Hispanic white: 74.3% and 63.0%), CHD severity (severe: 33.8% and 27.9%), and noncardiac congenital anomalies (34.8% and 38.9%) differed significantly (P value < .01); birth year (1991-1997: 56.0% and 57.5%) and presence of Down syndrome (9.2% and 8.9%) did not differ. CH STRONG will provide the first multisite, population-based findings on long-term outcomes among the growing population of US adults with CHD.

Selected Structural Birth Defects - Shanxi Province, China, 2000-2019.

What is already known about this topic? To reduce the high prevalence of neural tube defects (NTDs) in rural areas of the country, the Ministry of Health of China (currently known as the National Health Commission) initiated a nationwide folic acid supplementation program in 2009. The prevalence of NTDs have decreased from 118.9/10,000 births to 31.5/10,000 in northern China from 2000 to 2014. What is added by this report? Based on a population-based birth-defect surveillance system, the prevalence of selected structural birth defects in 5 counties in northern China decreased significantly from 182.8/10,000 births to 119.3/10,000 during the past two decades. Perinatal (28 gestational weeks or more) structural birth defects decreased from 83.9% of total birth defects in 2000 to 59.9% in 2019. What are the implications for public health practice? Improving the compliance of periconceptional folic acid supplementation, the fortification of staple foods with folic acid, and the health education surrounding early prenatal check-ups should be considered to further reduce the risk of birth defects in the population.