National population-based estimates for major birth defects, 2010-2014

Area of Science:

• Epidemiology
• Public Health
• Genetics

Background:

• The National Birth Defects Prevention Network (NBDPN) provides annual data reports crucial for understanding birth defect trends.
• Estimating national prevalence of major birth defects is essential for public health surveillance and intervention planning.

Purpose of the Study:

• To develop U.S. national prevalence estimates for major birth defects using birth cohort data from 2010-2014.
• To analyze trends in birth defect prevalence over time, comparing active and passive surveillance methods.

Main Methods:

• Utilized data from 39 U.S. population-based birth defects surveillance programs, categorizing them by case-finding approach (active, passive with/without confirmation).
• Calculated pooled prevalence estimates for major defects, focusing on 14 active case-finding programs monitoring approximately one million births annually.
• Adjusted prevalence estimates for maternal race/ethnicity and maternal age for specific conditions to provide more accurate national figures.

Main Results:

• National birth prevalence estimates per 10,000 live births varied widely, from 0.62 for interrupted aortic arch to 16.87 for clubfoot.
• While most birth defect prevalence remained stable over 15 years, gastroschisis and Down syndrome showed increasing trends.
• Specific defects like atrioventricular septal defect, tetralogy of Fallot, omphalocele, and trisomy 18 also showed increased prevalence compared to earlier periods. Active case-finding programs generally reported higher rates for several defects.

Conclusions:

• National birth defect prevalence estimates are vital for monitoring trends and assessing the impact of these conditions.
• The observed increasing prevalence for certain birth defects, including gastroschisis and Down syndrome, necessitates further investigation and targeted public health efforts.