Background
Using the National Birth Defects Prevention Network (NBDPN) annual data report, U.S. national prevalence estimates for major birth defects are developed based on birth cohort 2010–2014.
...Methods
Data from 39 U.S. population‐based birth defects surveillance programs (16 active case‐finding, 10 passive case‐finding with case confirmation, and 13 passive without case confirmation) were used to calculate pooled prevalence estimates for major defects by case‐finding approach. Fourteen active case‐finding programs including at least live birth and stillbirth pregnancy outcomes monitoring approximately one million births annually were used to develop national prevalence estimates, adjusted for maternal race/ethnicity (for all conditions examined) and maternal age (trisomies and gastroschisis). These calculations used a similar methodology to the previous estimates to examine changes over time.
Results
The adjusted national birth prevalence estimates per 10,000 live births ranged from 0.62 for interrupted aortic arch to 16.87 for clubfoot, and 19.93 for the 12 critical congenital heart defects combined. While the birth prevalence of most birth defects studied remained relatively stable over 15 years, an increasing prevalence was observed for gastroschisis and Down syndrome. Additionally, the prevalence for atrioventricular septal defect, tetralogy of Fallot, omphalocele, and trisomy 18 increased in this period compared to the previous periods. Active case‐finding programs generally had higher prevalence rates for most defects examined, most notably for anencephaly, anophthalmia/microphthalmia, trisomy 13, and trisomy 18.
Conclusion
National estimates of birth defects prevalence provide data for monitoring trends and understanding the impact of these conditions. Increasing prevalence rates observed for selected conditions warrant further examination.
The U.S. Public Health Service and the Institute of Medicine recommend that all women capable of becoming pregnant consume 400 μg of folic acid daily to help prevent neural tube defects (NTDs). ...Hispanic women are at higher risk of having babies with NTDs than non-Hispanic White women. This study assessed multivitamin (MV) use, a main source of folic acid, among Hispanic women of reproductive age using a survey of solely U.S. Hispanic adults.
MV use was assessed as part of Porter Novelli's
survey, fielded annually through the largest online U.S. Hispanic panel, Offerwise's QueOpinas. During the study period of 2013-2022, 9,999 surveys were completed; selection was weighted to match the U.S. Census American Community Survey proportions. Log-binomial regression models were applied to estimate MV use trends by age groups, acculturation levels, and pregnancy intention.
Among 3,700 Hispanic women of reproductive age, overall no MV use increased from 39.3% in 2013 to 54.7% in 2022 (
for trend <0.0001), especially among Hispanic women aged 18-34 years and those classified as acculturated. Among women planning to get pregnant, daily MV use was 31.1% in 2013 compared with 18.7% in 2020-2022 (
= 0.04).
Given the increase in no MV use among Hispanic women of reproductive age, targeted interventions may help reach at-risk groups for NTDs prevention.
For three decades, the US Public Health Service has recommended that all persons capable of becoming pregnant consume 400 μg day of folic acid (FA) to prevent neural tube defects (NTDs). The neural ...tube forms by 28 days after conception. Fortification can be an effective NTD prevention strategy in populations with limited access to folic acid foods and or supplements. This review describes the status of mandatory FA fortification among countries that fortify (
n
= 71) and the research describing the impact of those programs on NTD rates (up to 78% reduction), blood folate concentrations red blood cell folate concentrations increased ∼1.47-fold (95% CI, 1.27, 1.70) following fortification, and other health outcomes. Across settings, high-quality studies such as those with randomized exposures (e.g., randomized controlled trials, Mendelian randomization studies) are needed to elucidate interactions of FA with vitamin B
12
as well as expanded biomarker testing.
Objectives To examine racial/ethnic-specific survival of children with major birth defects in the US. Study design We pooled data on live births delivered during 1999-2007 with any of 21 birth ...defects from 12 population-based birth defects surveillance programs. We used the Kaplan-Meier method to calculate cumulative survival probabilities and Cox proportional hazards models to estimate mortality risk. Results For most birth defects, there were small-to-moderate differences in neonatal (<28 days) survival among racial/ethnic groups. However, compared with children born to non-Hispanic white mothers, postneonatal infant (28 days to <1 year) mortality risk was significantly greater among children born to non-Hispanic black mothers for 13 of 21 defects (hazard ratios HRs 1.3-2.8) and among children born to Hispanic mothers for 10 of 21 defects (HRs 1.3-1.7). Compared with children born to non-Hispanic white mothers, a significantly increased childhood (≤8 years) mortality risk was found among children born to Asian/Pacific Islander mothers for encephalocele (HR 2.6), tetralogy of Fallot, and atrioventricular septal defect (HRs 1.6-1.8) and among children born to American Indian/Alaska Native mothers for encephalocele (HR 2.8), whereas a significantly decreased childhood mortality risk was found among children born to Asian/Pacific Islander mothers for cleft lip with or without cleft palate (HR 0.6). Conclusion Children with birth defects born to non-Hispanic black and Hispanic mothers carry a greater risk of mortality well into childhood, especially children with congenital heart defect. Understanding survival differences among racial/ethnic groups provides important information for policy development and service planning.
ObjectivesTo examine the potential for bias in the estimate of under-5 mortality due to birth defects recently produced by the WHO and the Maternal and Child Epidemiology Estimation research ...group.DesignSystematic analysis.MethodsWe examined the estimated number of under-5 deaths due to birth defects, the birth defect specific under-5 mortality rate, and the per cent of under-5 mortality due to birth defects, by geographic region, national income and under-5 mortality rate for three age groups from 2000 to 2019.ResultsThe under-5 deaths per 1000 live births from birth defects fell from 3.4 (95% uncertainty interval (UI) 3.1–3.8) in 2000 to 2.9 (UI 2.6–3.3) in 2019. The per cent of all under-5 mortality attributable to birth defects increased from 4.6% (UI 4.1%–5.1%) in 2000 to 7.6% (UI 6.9%–8.6%) in 2019. There is significant variability in mortality due to birth defects by national income level. In 2019, the under-5 mortality rate due to birth defects was less in high-income countries than in low-income and middle-income countries, 1.3 (UI 1.2–1.3) and 3.0 (UI 2.8–3.4) per 1000 live births, respectively. These mortality rates correspond to 27.7% (UI 26.6%–28.8%) of all under-5 mortality in high-income countries being due to birth defects, and 7.4% (UI 6.7%–8.2%) in low-income and middle-income countries.ConclusionsWhile the under-5 mortality due to birth defects is declining, the per cent of under-5 mortality attributable to birth defects has increased, with significant variability across regions globally. The estimates in low-income and middle-income countries are likely underestimated due to the nature of the WHO estimates, which are based in part on verbal autopsy studies and should be taken as a minimum estimate. Given these limitations, comprehensive and systematic estimates of the mortality burden due to birth defects are needed to estimate the actual burden.