National population-based estimates for major birth defects, 2016-2020

Area of Science:

• Public Health Surveillance
• Reproductive Epidemiology
• Pediatric Health

Background:

• Provides updated crude and adjusted prevalence estimates for major birth defects in the United States.
• Covers the 2016-2020 period, offering current insights into birth defect epidemiology.

Purpose of the Study:

• To calculate pooled and national prevalence estimates for major birth defects.
• To compare current prevalence data with historical estimates from 1999-2014.

Main Methods:

• Utilized data from 13 US population-based surveillance programs employing active or combined case ascertainment.
• Calculated pooled and national prevalence estimates, adjusted for maternal race/ethnicity and maternal age for specific conditions.
• Compared current findings with previously published national estimates.

Main Results:

• Prevalence estimates per 10,000 live births varied widely, from 0.63 for common truncus to 18.65 for clubfoot.
• Observed temporal increases in atrioventricular septal defect, tetralogy of Fallot, omphalocele, trisomy 18, and trisomy 21 (Down syndrome).
• Observed temporal decreases in anencephaly, common truncus, transposition of the great arteries, and cleft lip with/without cleft palate.

Conclusions:

• Presents updated national prevalence data for selected major birth defects in the US.
• Emphasizes the utility of these data for continuous temporal monitoring of birth defect prevalence.
• Highlights observed increases and decreases in prevalence since 1999, warranting further investigation.