This study aims to assess the trends in the disease burden of birth defects (BDs) in China from 1990 to 2023, to inform evidence-based optimization of prevention and control strategies.
Data on the standardized incidence rate, standardized disability-adjusted life year (DALY) rate, and standardized mortality rate for total BDs and 10 major subtypes were extracted from the Global Burden of Disease Study (GBD) 2023 for China. Temporal trends were analyzed using Joinpoint regression to estimate the average annual percentage change (AAPC). Pairwise comparisons were conducted to examine differences by sex.
From 1990 to 2023, the disease burden of total BDs in China showed a significant downward trend,with AAPCs of -0.39%, -4.31%, and -4.84% for each indicator, respectively (all P<0.001). Stage-specific analysis showed that during the low-middle sociodemographic index (SDI) stage, all three indicators exhibited significant decreasing trends,with AAPCs of -0.92%, -2.13%, and -2.32%, respectively (all P<0.001). During the middle SDI stage, the standardized incidence rate showed a slight increase (AAPC=0.24%, P<0.05), whereas the standardized DALY rate and standardized mortality rate continued to decline more markedly, with AAPCs of -8.40% and -9.40%, respectively (both P<0.001). The disease burden of total BDs was consistently higher in males than in females; the decline in standardized incidence rate was faster in females than in males, whereas the declines in standardized DALY rate and standardized mortality rate were faster in males than in females (all P<0.001). Congenital musculoskeletal and limb anomalies had the highest standardized incidence rate in both 1990 and 2023. Congenital heart disease had the highest standardized DALY rate and standardized mortality rate in both years. The most marked declines were observed for neural tube defects (AAPCs:-3.85%, -7.87%, -8.50%) and cleft lip and palate (AAPCs: -1.58%, -9.38%, -12.89%) (all P<0.001).
The disease burden of BDs in China has declined markedly, with notable sex-based differences. Significant progress has been made in the prevention and control of neural tube defects and cleft lip and palate. Future efforts should focus on congenital musculoskeletal and limb anomalies and congenital heart disease, with an emphasis on primary prevention and life-cycle health management.
| 科 Family | 属数 Number of genus | 种数 Number of species | 占总种数比例 Percentage of total species (%) | 属 Genus | 种数 Number of species | 占总种数比例 Percentage of total species (%) |
|---|---|---|---|---|---|---|
| 鹅膏菌科Amanitaceae | 2 | 11 | 5.26 | 鹅膏菌属 Amanita | 10 | 4.78 |
| 小菇科 Mycenaceae | 2 | 12 | 5.74 | 丝盖伞属 Inocybe | 5 | 2.39 |
| 多孔菌科 Polyporaceae | 8 | 14 | 6.70 | 蜡蘑属 Laccaria | 5 | 2.39 |
| 红菇科 Russulaceae | 3 | 23 | 11.00 | 小皮伞属 Marasmius | 6 | 2.87 |
| 小菇属 Mycena | 11 | 5.26 | ||||
| 光柄菇属 Pluteus | 5 | 2.39 | ||||
| 红菇属 Russula | 17 | 8.13 | ||||
| 栓菌属 Trametes | 5 | 2.39 |