# Association of birth defects during the perinatal period with child mortality under 5 years

**Authors:** Donghua Xie, Jianhui Wei, Lili Xiong, Huiyuan Zhu, Xianglian Peng, Bo Li, Kehan Zou

PMC · DOI: 10.3389/fped.2025.1485176 · 2025-07-31

## TL;DR

Children born with birth defects have significantly higher mortality rates under 5 years of age, especially in the first 28 days.

## Contribution

This study quantifies the association between perinatally diagnosed birth defects and child mortality in Hunan Province using a large-scale cohort analysis.

## Key findings

- Children with birth defects had an 11.6 times higher mortality risk compared to those without defects.
- Congenital anomalies were the leading cause of death among children with birth defects.
- Mortality risks were particularly elevated for muscular, chromosomal, genetic, and nervous system abnormalities.

## Abstract

To calculate the impact of birth defects (BDs) diagnosed during the perinatal period on the mortality of children under 5 years of age.

This was a retrospective cohort analysis. From the monitoring system, we collected all hospital delivery, BD monitoring, and death information for children under 5 years in Hunan Province from 2017–2022. These data were linked by ID number. Mortality rates and Cox proportional hazards models were used to compute hazard ratios (HRs) and 95% confidence intervals (CIs) for the impact of BDs on mortality in children under 5 years of age.

Among 3,807,340 live-born children, 29,879 (0.8%) had at least one type of BDs during the perinatal period, with a total of 12,215,033 person-years of follow-up. The mortality rate of the BDs group was 14.5% (95% CI: 13.7–15.3) per 1,000 person-years, which was 11.6 times (HR = 11.6, 95% CI: 10.5–12.8) greater than that of the nondefect group. The mortality rate per 1,000 person-years of girls with BDs was higher than that of boys (15.4% vs. 13.5%). For the BDs group, congenital anomalies (CAs) were the most common cause of death (57.2%). Compared with children without BDs, those with BDs had elevated mortality risks for CAs (HR, 58.1; 95% CI, 42.7–79.0), digestive (HR = 16.5, 95% CI: 6.1–45.0) and respiratory system malformations (HR, 11.9; 95% CI, 7.9–17.8), and cancer (HR = 11.1 95% CI: 4.7–26.2).

This study revealed that BDs were strongly associated with mortality under 5 years of age, especially in the first 28 days, for muscular, chromosomal, genetic, and nervous system abnormalities.

## Linked entities

- **Diseases:** cancer (MONDO:0004992)

## Full-text entities

- **Diseases:** BDs (MESH:D000014), CAs (MESH:D000013), , chromosomal, genetic, and nervous system abnormalities (MESH:D025063), ID (MESH:C537985), cancer (MESH:D009369), death (MESH:D003643), BD (MESH:D001528), respiratory system malformations (MESH:D015619)

## Figures

1 figure with captions in the complete paper: https://tomesphere.com/paper/PMC12350481/full.md

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Source: https://tomesphere.com/paper/PMC12350481