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

Abstract

Background: Birth defects constitute a significant public health issue worldwide, yet there is a lack of comprehensive population-based data for the Chinese population.

Methods: We 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.

Results: From 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.

Conclusion: This study highlights the diverse trends and prevalence patterns of major birth defects, underscoring the necessity for defect-specific public health interventions.

Keywords: Birth defects; China; Epidemiology; Prevalence; Trend.

Fig. 1

Temporal trends in the prevalence of selected birth defects from 2007 to 2021. ASD and PFO are combined due to the surveillance system's inability to distinguish between them, with both coded as Q21.1. For PFO, cases are excluded if they involve isolated PFO in preterm infants or isolated PFO in term infants detected after 24 h of birth with a diameter less than 3 mm. The exclusion criteria for PDA are the same as those for PFO. Total CHDs represents the prevalence of CHDs excluding isolated cases of ASD/PFO and PDA. Only birth defects showing a significant increasing or decreasing trend are presented here. ASD atrial septal defect, CHDs congenital heart diseases, CL cleft lip without palate, CLP cleft lip with palate, CL/P cleft lip with or without palate, CP cleft palate, LRD limb reduction defects, NTDs neural tube defects, PDA patent ductus arteriosus, PFO patent foramen ovale, TOF tetralogy of Fallot, VSD ventricular septal defect