Birth Defects Surveillance System Research Articles

Prevalence rates study of selected isolated non-Mendelian congenital anomalies in the Hutterite population of Alberta, 1980-2016.

A study of the prevalence rates for selected isolated non-Mendelian congenital anomalies in the Hutterite Brethren of Alberta, Canada was undertaken to further examine longitudinal data in this isolated community that was last reported in 1985 (Lowry et al., 1985), although there are numerous publications on recessive disorders (Boycott et al., 2008; Triggs-Raine et al., 2016). Cases were ascertained from the Alberta Congenital Anomaly Surveillance System for the years 1997-2016. Since our initial results showed some surprising findings in the Hutterite Brethren, such as zero cases of spina bifida, cleft lip and palate, gastroschisis, and omphalocele, and a significant excess of cases with hypospadias, we extended the study to prior years (1980-1996) for selected anomalies. For the extended study period (1980-2016), there was a significant increased prevalence of hypospadias, tetralogy of Fallot and tricuspid atresia in the Hutterite population, and although not statistically significant, zero cases of cleft lip with cleft palate, gastroschisis and omphalocele were confirmed. Further research is needed to determine the precise effects of rural environmental exposures, lifestyle factors, and genetic associations for selected multifactorial congenital anomalies.

Epidemiology, prenatal diagnosis, and neonatal outcomes of congenital heart defects in eastern China: a hospital-based multicenter study

BackgroundCongenital heart defect is the leading malformation in China. There may have been changes in congenital heart defect incidence because of birth policy shift in China over past years. This study aimed to investigate the epidemiology, prenatal diagnosis, and outcomes of congenital heart disease to improve medical and policy decisions.MethodsData on cases of congenital heart disease identified during 2014–2018 were taken from the Zhejiang provincial birth defects surveillance system. Chi-square test, odds ratio (OR) and 95% confidence interval (CI) were used to explore epidemiology, prenatal diagnosis, and birth outcomes of congenital heart disease.ResultsThe average incidence of congenital heart disease was 16.0 per 1000 births, which increased by 62.2% during 2014–2018(χ2trend = 181.41, P < 0.001). However, the average critical congenital heart incidence was 1.6 per 1000 births, which remained stable over time. Women aged ≤20 years (OR2.1, 95% CI 1.9–2.3) or ≥ 35 years (OR 1.2, 95% CI 1.2–1.3) were at higher risk of having babies with congenital heart disease than women aged 21–34 years. Women who gave birth in urban areas (OR 1.2, 95% CI 1.2–1.3), had a son (OR 1.3, 95% CI 1.3–1.4), or had multiple births (OR 4.0, 95% CI 3.7–4.4) were also at higher risk than those giving birth in rural areas, to girls, or single births, respectively. The three major subtypes of congenital heart disease were atrial septal defect (67.9%), patent ductus arteriosus (34.7%), and ventricular septal defect (6.4%). The prenatal detection rate of critical congenital heart disease was 90.0%, which was far higher than total congenital heart disease, at 22.2% (χ2 = 1687.67, P < 0.001). There were 1457 (17.1%) stillbirths, 106 (1.2%) early neonatal deaths, and 6983 (81.7%) live births associated with congenital heart disease.ConclusionsThe high incidence of congenital heart disease in Zhejiang might be attributable to the large proportion of mild congenital heart disease. The incidence of critical congenital heart disease, the prenatal detection rate, and perinatal deaths from congenital heart disease are comparable to those in other studies.

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.

Perspectives on challenges and opportunities for birth defects surveillance programs during and after the COVID-19 era.

In recent months, various public health measures have been implemented throughout the world in response to the coronavirus disease 2019 (COVID‐19) pandemic. This outbreak, and the subsequent containment policies, may have a range of potential short‐ and long‐term impacts on the monitoring and surveillance of other conditions, such as birth defects. In this commentary, we provide a perspective on these potential impacts on birth defects surveillance and analysis. We discuss possible effects on clinical birth defect diagnoses, routine birth defects surveillance system activities, and epidemiologic considerations, as well as opportunities for mitigating the impact of COVID‐19. Like many other sectors of public health and medicine, birth defects surveillance programs may be faced with organizational and methodological obstacles in the wake of a changing landscape. A better understanding of these potential challenges faced by birth defects surveillance programs could facilitate better planning and collaboration across programs to overcome barriers to core activities and to prepare for novel opportunities for research and prevention.

Analysis on the birth situation different fertility policy periods in monitoring area of birth defect population in Zhejiang Province

Objective: To explore the impacts on birth situation associated with birth policy adaption in monitoring area of birth defect population in Zhejiang province. Methods: Data were obtained from hospital-based birth defect surveillance system in Zhejiang Province. The surveillance population was childbearing women living in Nanhu of Jiaxing and Fenghua of Ningbo no less than 1 year. We divided data into three groups as "only child" (Jan, 2012-Sep, 2013), "privileged second child" (Jan, 2015-Sep, 2016) and "universal second child" (Jan, 2017-Sep, 2018) according to birth policy adaption. The differences of maternal age distribution in different birth policy periods were compared by using Kruskal-Wallis test. The changing trend of the proportion of parturient in different birth policy periods was analyzed by using Trend χ(2) test. Unconditional logistic regression model was used to analyze the relationship between birth policy and adverse perinatal outcomes. Results: During "only child" , " privileged second child" and "universal second child" period, the number of childbearing women was 12 557, 14 097 and 15 509, respectively, with an increase of 12.3% and 10.0% over previous periods. Maternal ages [M (P(25), P(75))] were [27 (25, 30)], [28 (26, 31)] and [28 (26, 32)] years old. The proportion of multipara in each period was 19.5%, 35.7% and 45.8%, showing an increased trend (P<0.001). The incidence of adverse perinatal outcomes was lowest in the "only child" period (8.7%) and highest in the "universal second child" period (11.1%). Unconditional logistic regression model showed that after adjusting for age, compared with the "only child" period, the risk of premature birth [OR values (95%CI) were 1.20(1.08-1.33) and 1.08 (1.02-1.13), respectively] and birth defects [OR values (95%CI) were 1.33(1.13-1.55) and 1.29 (1.20-1.39), respectively] increased in "privileged second child" and "universal second child" period. The risk of macro infants decreased significantly [OR values(95%CI) were 0.87 (0.80-0.96) and 0.91 (0.87-0.95), respectively], and the risk of perinatal death changed insignificantly [OR values (95%CI) were 0.78 (0.53-1.15) and 0.84 (0.69-1.02), respectively]. Conclusion: According to population based surveillance in two regions in Zhejiang, the proportion of women with advanced age, the proportion of multipara , the risks of birth defects increased with birth policy adaption.

Epidemiology of birth defects based on a birth defect surveillance system in Southern Jiangsu, China, 2014–2018

Introduction Changzhou has been confronted with great challenges in birth defects (BDs) prevention, as the prevalence rates of BDs in Changzhou increased rapidly. The aims of this study were to describe the epidemiology of BDs in perinatal infants (PIs, including dead fetus, stillbirth, or live birth between 28 weeks of gestation and 7 days after birth) in Changzhou during the period from 2014 to 2018. Methods The BD surveillance data of PIs were collected from 56 hospitals of Changzhou. The prevalence rate of BDs with 95% confidence interval (CI) were calculated by Poisson distribution. Univariate and multivariate Poisson regression was performed to identify the changing trends of prevalence rates of BDs by year and the association of regarding BD characteristics including year, infant gender, maternal age, and season with BDs successively. Results From 2014 to 2018, there were a total of 238,712 PIs of which 1707 had BDs, with the average prevalence of 71.509 per 10,000 PIs, showing a remarkable uptrend (aPRR = 1.133, 95%CI: 1.094–1.173). The ten leading BDs were polydactyly, congenital heart defects (CHD), syndactyly, microtia, cleft lip and palate (CLP), hypospadias, cleft palate, other malformation of external ear (OMEE), congenital atresia of rectum and anus, and congenital talipes equinovarus (CTE). During the study period, the prevalence rates of polydactyly, CHD and syndactyly increased significantly (PRR = 1.195, 95%CI: 1.109–1.288, PRR = 1.194, 95%CI: 1.105–1.291, and PRR = 1.143, 95%CI: 1.007–1.297, respectively); the prevalence rates of congenital esophageal atresia decreased significantly (PRR = 0.571, 95%CI: 0.395–0.826). The risk of BDs was higher in male PIs versus female PIs (aPRR = 1.235, 95%CI: 1.123–1.358). Conclusions A significant increase in the prevalence of BDs was detected from 2014 to 2018 in Changzhou. CHD, polydactyly, and syndactyly increased much and congenital esophageal atresia declined much. Male PIs was risk factor for occurrence of BDs. Collecting information on factors associated with BDs, setting the report time of BDs system at smaller gestational age so as to get an exact prevalence and make better prevention strategy, strengthening the publicity and education, improving the ability of monitoring, and wider use of new diagnosis technology are important to reduce the prevalence of BDs in PIs.

Changes in maternal age and prevalence of congenital anomalies during the enactment of China's universal two-child policy (2013–2017) in Zhejiang Province, China: An observational study

BackgroundChina implemented a partial two-child policy (2013) followed by a universal two-child policy (2015), replacing the former one-child policy mandated by the government. The changes affect many aspects of China’s population as well as maternal and infant health, but their potential impact on birth defects (BDs) remains unknown. In this study, we investigated the associations of these policy changes with BDs in Zhejiang Province, China.Methods and findingsWe used data from the BD surveillance system in Zhejiang Province, China, which covers 90 hospitals in 30 urban districts and rural counties, capturing one-third of the total births in this province. To fully consider the time interval between conception and delivery, we defined the one-child policy period as data from 2013 (births from October 2012 to September 2013), the partial two-child policy period as data from 2015 (births from October 2014 to September 2015), and the universal two-child policy period as data from 2017 (births from October 2016 to September 2017). Data from 2009 and 2011 were also used to show the changes in the proportion of births to women with advanced maternal age (35 years and older) prior to the policy changes. Main outcome measures were changes in the proportion of mothers with advanced maternal age, prevalence of BDs, rankings of BD subtypes by prevalence, prenatal diagnosis rate, and live birth rate of BDs over time. A total of 1,260,684 births (including live births, early fetal losses, stillbirths, and early neonatal deaths) were included in the analyses. Of these, 644,973 (51.16%) births were to women from urban areas, and 615,711 (48.84%) births were to women from rural areas. In total, 135,543 (10.75%) births were to women with advanced maternal age. The proportion increased by 85.68%, from 8.52% in 2013 to 15.82% in 2017. However, it had remained stable prior to policy changes. Overall, 23,095 BDs were identified over the policy changes (2013–2017). The prevalence of BDs during 2013, 2015, and 2017 was 245.95, 264.86, and 304.36 per 10,000 births, respectively. Trisomy 21 and other chromosomal defects increased in both risk and ranking from 2013 to 2017 (crude odds ratio [95% confidence interval] 2.13 [1.75–2.60], from ranking 10th to 5th, and 3.63 [2.84–4.69], from ranking 16th to 6th, respectively). The prenatal diagnosis rate increased by 3.63 (2.2–5.1) percentage points (P < 0.001), from 31.10% to 34.72%, and identification of BDs occurred 1.88 (1.81–1.95) weeks earlier (P < 0.001). The live birth rate for infants with BDs born before 28 gestational weeks increased from 1.29% to 11.45%. The major limitations of this observational study include an inability to establish causality and the possible existence of unknown confounding factors, some of which could contribute to BDs.ConclusionsIn this study, we observed significant increases in maternal age and the prevalence of total and age-related anomalies following China’s new two-child policy. Increases in live birth rate for infants with BDs born before 28 gestational weeks suggest that healthcare for very preterm births with BDs may be warranted in the future, as well as updating the definition of perinatal period.

Maternal occupational exposure to solvents and gastroschisis in offspring - National Birth Defects Prevention Study 1997–2011

ObjectivesThe aim of this study was to assess the association between maternal occupational exposure to solvents and gastroschisis in offspring.MethodsWe used data from the National Birth Defects Prevention Study, a...

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.

Maternal air pollution exposure associated with risk of congenital heart defect in pre-pregnancy overweighted women

ObjectivesPrenatal exposure to air pollutant has been associated with congenital heart defect (CHD). However, no study has investigated this effect in pre-pregnancy overweighted women. This study aimed to evaluate gestational exposure to particulate pollutant (PM2.5) and gaseous air pollutants (O3 and NO2) on the risk of CHD, and explore the potential effect modifiers including maternal age, pre-pregnancy BMI and pregestational diseases. MethodsIn this birth cohort study, a total of 63,213 pregnant women in Foshan, China were initially recruited and followed from their first hospital visit for pregnancy to delivery during 2015–2019. CHD cases were confirmed by the records in hospital- and population- based birth defect surveillance systems. Air pollutant exposures were estimated by the daily concentrations measured in air monitoring stations in each participant's residential county. Mixed-effects regression models, adjusted for potential confounding factors were applied to estimate the associations between air pollutant and CHD during the first three months of the pregnancy. ResultsA total of 985 (1.6%) newborns were identified as CHD cases. For each 10 μg/m3 increase in ambient O3 during the 1st month, the OR values for CHD were 1.03 (95% CI: 0.94, 1.13) in pre-pregnancy normal weighted women and 1.24 (95% CI: 1.01, 1.53) in pre-pregnancy overweighted women. For each 10 μg/m3 increase in NO2 during the 3rd month, the OR values for CHD were 1.09 (95% CI: 1.01, 1.18) in pre-pregnancy normal weighted women and 1.27 (95% CI: 1.07, 1.51) in pre-pregnancy overweighted women. No significant associations were found between PM2.5 exposure and CHD in our analysis. ConclusionsThis study demonstrates that gaseous air pollutants (O3 and NO2) exposure during the cardiac embryogenesis period is associated with an increased risk of CHD, particularly for pre-pregnancy overweighted women.

Overcoming staffing challenges when implementing a birth defects surveillance system: a Ugandan experience.

Overcoming staffing challenges when implementing a birth defects surveillance system: a Ugandan experience.

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.

A hospital-based birth defects surveillance system in Kampala, Uganda

BackgroundIn 2010, the World Health Assembly passed a resolution calling upon countries to prevent birth defects where possible. Though birth defects surveillance programs are an important source of information to guide implementation and evaluation of preventive interventions, many countries that shoulder the largest burden of birth defects do not have surveillance programs. This paper shares the results of a hospital-based birth defects surveillance program in Uganda which, can be adopted by similar resource-limited countries.MethodsAll informative births, including live births, stillbirths and spontaneous abortions; regardless of gestational age, delivered at four selected hospitals in Kampala from August 2015 to December 2017 were examined for birth defects. Demographic data were obtained by midwives through maternal interviews and review of hospital patient notes and entered in an electronic data collection tool. Identified birth defects were confirmed through bedside examination by a physician and review of photographs and a narrative description by a birth defects expert. Informative births (live, still and spontaneous abortions) with a confirmed birth defect were included in the numerator, while the total informative births (live, still and spontaneous abortions) were included in the denominator to estimate the prevalence of birth defects per 10,000 births.ResultsThe overall prevalence of birth defects was 66.2/10,000 births (95% CI 60.5–72.5). The most prevalent birth defects (per 10,000 births) were: Hypospadias, 23.4/10,000 (95% CI 18.9–28.9); Talipes equinovarus, 14.0/10,000 (95% CI 11.5–17.1) and Neural tube defects, 10.3/10,000 (95% CI 8.2–13.0). The least prevalent were: Microcephaly, 1.6/10,000 (95% CI 0.9–2.8); Microtia and Anotia, 1.6/10,000 (95% CI 0.9–2.8) and Imperforate anus, 2.0/10,000 (95% CI 1.2–3.4).ConclusionA hospital-based surveillance project with active case ascertainment can generate reliable epidemiologic data about birth defects prevalence and can inform prevention policies and service provision needs in low and middle-income countries.

Birth outcomes following antiretroviral exposure during pregnancy: Initial results from a pregnancy exposure registry in South Africa.

BackgroundIn 2013, a pregnancy exposure registry and birth defects surveillance (PER/BDS) system was initiated in eThekwini District, KwaZulu-Natal (KZN), to assess the impact of antiretroviral treatment (ART) on birth outcomes.ObjectivesAt the end of the first year, we assessed the risk of major congenital malformations (CM) and other adverse birth outcomes (ABOs) detected at birth, in children born to women exposed to ART during pregnancy.MethodData were collected from women who delivered at Prince Mshiyeni Memorial Hospital, Durban, from 07 October 2013 to 06 October 2014, using medicine exposure histories and birth outcomes from maternal interviews, clinical records and neonatal surface examination. Singleton births exposed to only one ART regimen were included in bivariable analysis for CM risk and multivariate risk analysis for ABO risk.ResultsData were collected from 10 417 women with 10 517 birth outcomes (4013 [38.5%] HIV-infected). Congenital malformations rates in births exposed to Efavirenz during the first trimester (T1) (RR 0.87 [95% CI 0.12–6.4; p = 0.895]) were similar to births not exposed to ART during T1. However, T1 exposure to Nevirapine was associated with the increased risk of CM (RR 9.28 [95% CI 2.3–37.9; p = 0.002]) when compared to the same group. Other ABOs were more frequent in the combination of HIV/ART-exposed births compared to HIV-unexposed births (29.9% vs. 26.0%, adjusted RR 1.23 [1.14–1.31; p < 0.001]).ConclusionNo association between T1 use of EFV-based ART regimens and CM was observed. Associations between T1 NVP-based ART regimen and CM need further investigation. HIV- and ART-exposed infants had more ABOs compared to HIV-unexposed infants.

Surveillance for Emerging Threats to Pregnant Women and Infants.

Recent public health emergencies have highlighted the unique vulnerabilities of pregnant women and infants to emerging health threats and the critical role of public health surveillance. Surveillance systems can collect critical data to measure the impact of a disease or disaster and can be used to inform clinical guidance and prevention strategies. These systems can also be tailored to collect data on vulnerable populations, such as pregnant women and their infants. Novel surveillance systems to assess risks and outcomes of pregnant women and infants have been established during public health emergencies but typically cease data collection once the public health response has ended, limiting our ability to collect data to understand longer-term outcomes. State-based birth defects surveillance systems are not available in all states, and no national surveillance system linking pregnancy exposure data to longitudinal outcomes for infants and children exists. In this report, we describe ongoing surveillance efforts to monitor congenital syphilis, Zika virus infection during pregnancy, and neonatal abstinence syndrome. We describe the need and rationale for an ongoing integrated surveillance system to monitor pregnant women and their infants and to detect emerging threats. We also discuss how data collected through this type of system can better position federal, state, and local health departments to more rapidly and comprehensively respond to the next public health emergency.

Hypospadias Prevalence and Trends in International Birth Defect Surveillance Systems, 1980–2010

BackgroundHypospadias is a common male birth defect that has shown widespread variation in reported prevalence estimates. Many countries have reported increasing trends over recent decades. ObjectiveTo analyze the prevalence and trends of hypospadias for 27 international programs over a 31-yr period. Design, setting, and participantsThe study population included live births, stillbirths, and elective terminations of pregnancy diagnosed with hypospadias during 1980–2010 from 27 surveillance programs around the world. Outcome measurements and statistical analysisWe used joinpoint regression to analyze changes over time in international total prevalence of hypospadias across programs, prevalence for each specific program, and prevalence across different degrees of severity of hypospadias. Results and limitationsThe international total prevalence of hypospadias for all years was 20.9 (95% confidence interval: 19.2–22.6) per 10000 births. The prevalence for each program ranged from 2.1 to 39.1 per 10000 births. The international total prevalence increased 1.6 times during the study period, by 0.25 cases per 10000 births per year (p<0.05). When analyzed separately, there were increasing trends for first-, second-, and third-degree hypospadias during the early 1990s to mid-2000s. The majority of programs (61.9%) had a significantly increasing trend during many of the years evaluated. Limitations include known differences in data collection methods across programs. ConclusionsAlthough there have been changes in clinical practice and registry ascertainment over time in some countries, the consistency in the observed increasing trends across many programs and by degrees of severity suggests that the total prevalence of hypospadias may be increasing in many countries. This observation is contrary to some previous reports that suggested that the total prevalence of hypospadias was no longer increasing in recent decades. Patient summaryWe report on the prevalence and trends of hypospadias among 27 birth defect surveillance systems, which indicate that the prevalence of hypospadias continues to increase internationally.

Epidemiological characteristics of holoprosencephaly in China, 2007-2014: A retrospective study based on the national birth defects surveillance system.

ObjectiveTo describe the epidemiology of holoprosencephaly (HPE) in China with special reference to prevalence and associated anomalies.MethodsData were abstracted from the Chinese Birth Defects Monitoring Network for the period 2007–2014. Birth prevalence of HPE were assessed by birth year, fetal/infant sex, maternal age, and maternal residential area. Poisson regressions were used to calculate the crude and adjusted prevalence ratios (PR) and their 95% confidence intervals, and linear chi-square test was used to explore time trend for the prevalence of HPE.ResultsA total of 1222 HPE cases were identified in 13,284,142 births, yielding an overall prevalence of 0.92 per 10,000 births. The annual prevalence of HPE presented an upward trend (P<0.001), from 0.54 per 10,000 births in 2007 to 1.21 per 10,000 births in 2014. Higher prevalence was found in older maternal-age groups (30–34 years, adjusted PR: 1.19, 95% CI: 1.02–1.40; ≥35 years, adjusted PR: 1.53, 95% CI: 1.26–1.86) in comparison with the maternal-age group of 25 to 29 years. Higher prevalence was also found in infants born to mothers resided in urban areas (adjusted PR: 1.23, 95% CI: 1.08–1.39) and female infants (adjusted PR: 1.30, 95% CI: 1.15–1.47).ConclusionsHPE is an important perinatal health issue because of its poor prognosis. This is the first study depicting a picture of epidemiological characteristics of HPE in China, which can provide useful references for future studies.

Reproductive History and Burden of Adverse Pregnancy Outcomes in Women in Southern India (P11-006-19)

ObjectivesTo characterize the reproductive history and pregnancy outcomes in women of reproductive age as part of an ongoing periconceptional surveillance program in Southern India. MethodsParticipants were women of reproductive age (15-40 y) who were not pregnant or lactating and resided in households within the 50 km2 catchment area of our community-based research site in Southern India (n = 813). After obtaining informed consent/assent, reproductive and obstetric histories were captured by a trained OB/GYN nurse via an electronic interviewer-administered questionnaire with the study participants. ResultsIn this population, most participants reported being married (76.1%) and having some formal education (83.7%), with a median age of 30 (interquartile range [IQR] 24, 36) years. The average age of menarche reported was 13.0 (IQR 12.0, 14.0) years, and the median age at first pregnancy was 19.0 (IQR 17.0, 21.0) years. A total of 76.6% of women reported at least one previous pregnancy; 7.9% were primiparous and 65.7% were multiparous, with a median of 2.0 (IQR 2.0, 2.0) children currently living per woman. Approximately 80% of women reported taking any iron (80.4%) or folic acid (77.9%) supplements at any point during pregnancy. To date, women reported a total of 1,614 previous pregnancies with 1,318 live births (n = 1,308 singleton live births, n = 5 sets of twins), 169 spontaneous abortions, 94 induced abortions, and 42 stillbirths. Fifteen pregnancies were reported to have been affected by birth defects (n = 1 cleft lip, n = 2 cleft palate with cleft lip, n = 2 talipes equinovarus/clubfoot, n = 3 spina bifida, n = 3 encephalocele, n = 1 anencephaly, and n = 3 other birth defects). A total of 48 women reported a biological relative with a birth defect diagnosed at birth. ConclusionsA substantial burden of birth defects was reported in this population (7 neural tube defects in 1,614 pregnancies). Findings from this survey will inform the establishment of an ongoing birth defects surveillance system and a randomized efficacy trial for prevention of anemia and birth defects in Southern India. Funding SourcesCenters for Disease Control and Prevention.AF was supported by the National Institutes of Health #5 T32 HD087137

Epidemiology and clinical profile of individuals with cleft lip and palate utilising specialised academic treatment centres in South Africa.

ObjectiveThe study was conducted to determine the epidemiology and clinical profile of individuals with cleft lip and/or palate (CLP) utilizing specialized academic treatment centres in South Africa’s public health sector.Materials and methodsThe Human Research Ethics Committee of the University of the Witwatersrand in Johannesburg provided ethical approval for the study. We conducted a retrospective record review of all cases of CLP treated at the specialised academic centres for the two-year period from 1 January 2013 until 31 December 2014. We used a structured, pre-tested record review form to obtain demographic, clinical and treatment information on each CLP case. We used Stata 13 to analyse the data and conducted statistical tests at 5% significance level.ResultsWe analysed 699 records of individuals with CLP. The estimated prevalence of CLP in the South African public health sector was 0.3 per 1000 live births, with provincial variation of 0.1/1000 to 1.2/1000. The distribution of clefts was: 35.3% cleft palate; 34.6% cleft lip and palate; 19.0% cleft lip and other cleft anomalies at 2%. Of the total number of CLP, 47.5% were male and 52.5% female, and this difference was statistically significant (p<0.001). The majority of clefts occurred on the left for males (35.5%) and palate for females (43.4%), with a male predominance of unilateral cleft lip and palate (53.3%).ConclusionThe study findings should inform the implementation of South Africa’s planned birth defect surveillance system and health service planning for individuals with CLP.

Maternal periconceptional body mass index and risk for neural tube defects: results from a large cohort study in China

Background: Case-control studies have consistently suggested an association between pre- or periconceptional maternal obesity and an increased risk for neural tube defects (NTDs). Few studies have examined the association between body mass index (BMI) and NTDs using measured weight and height. We examined this association in a large cohort study in China.Methods: We used data from a large population-based cohort study established to evaluate the effectiveness of folic acid supplementation to prevent NTDs in China. BMI was computed using maternal weight and height measured before pregnancy or during early pregnancy. External birth defects were identified through a unique birth defects surveillance system. We estimated the birth prevalence and prevalence odds ratios (POR) for NTDs by Chinese BMI categories, controlling for potential confounders.Results: Our study population included a total of 194,844 women. We observed significantly elevated risk for spina bifida (adjusted POR = 5.4, 95% CI: 1.3–22.5) among children born to obese compared to normal weight women. Among women who took folic acid supplements, the adjusted POR for spina bifida among obese women was 10.0 (95% CI: 2.3–42.6) compared to pill users who were of normal weight. Borderline significantly elevated risk was observed for anencephaly (adjusted POR = 1.8; 95% CI: 1.0–3.2) among children born to underweight compared to normal weight women.Conclusions: Our findings suggest that maternal periconceptional obesity may be associated with an increased risk for spina bifida. Maternal underweight may be associated with increased risk for anencephaly.