Department of Epidemiology and Biostatistics, School of Public Health, Peking University, No. 38, Xueyuan Road, Haidian District, Beijing, 100191, China.
Vanke School of Public Health, Tsinghua University, No. 1, Tsinghua Garden, Haidian District, Beijing, 100084, China.
World J Pediatr. 2024 Jul;20(7):669-681. doi: 10.1007/s12519-023-00786-8. Epub 2024 Feb 10.
Although birth defects are of great concern globally, the latest national prevalence has not yet been quantified in China. We conducted a systematic review and meta-analysis to estimate the perinatal prevalence of birth defects in the Mainland of China between 2000 and 2021.
We performed a systematic literature search of six databases for relevant articles published between January 1, 2000, and March 1, 2023. We included published studies that reported data on the perinatal prevalence of birth defects in the Mainland of China. The DerSimonian and Laird random-effects models were used to estimate the pooled prevalence and its 95% confidence interval (CI). We also conducted subgroup analyses and univariable meta-regressions to explore differences in prevalence by time period, geographic region, and other characteristics.
We included 254 studies reporting the perinatal prevalence of birth defects and 86 studies reporting only the prevalence of specific types of birth defects. Based on 254 studies covering 74,307,037 perinatal births and 985,115 cases with birth defects, the pooled perinatal prevalence of birth defects was 122.54 (95% CI 116.20-128.89) per 10,000 perinatal births in the Mainland of China during 2000-2021. Overall, the perinatal prevalence of birth defects increased from 95.60 (86.51-104.69) per 10,000 in 2000-2004 to 208.94 (175.67-242.22) per 10,000 in 2020-2021. There were also significant disparities among different geographical regions. Congenital heart defects (33.35 per 10,000), clefts of the lip and/or palate (13.52 per 10,000), polydactyly (12.82 per 10,000), neural tube defects (12.82 per 10,000), and inborn errors of metabolism (11.41 per 10,000) were the five most common types of birth defects. The perinatal prevalence among males was significantly higher than that among females (β = 2.44 × 10, P = 0.003); a higher perinatal prevalence of birth defects was observed among perinatal births whose mothers were ≥ 35 years (β = 4.34 × 10, P < 0.001).
Comprehensive and sustained efforts are needed to strengthen surveillance and detection of birth defects, improve prenatal and postnatal healthcare, and promote rehabilitation, especially in underdeveloped areas.
尽管出生缺陷是全球关注的焦点，但中国最新的全国流行率尚未确定。我们进行了一项系统综述和荟萃分析，以估计 2000 年至 2021 年间中国内地围产期出生缺陷的患病率。
我们对 6 个数据库进行了系统的文献检索，以检索 2000 年 1 月 1 日至 2023 年 3 月 1 日期间发表的相关文章。我们纳入了报告中国内地围产期出生缺陷患病率数据的已发表研究。使用 DerSimonian 和 Laird 随机效应模型估计汇总患病率及其 95%置信区间（CI）。我们还进行了亚组分析和单变量荟萃回归，以探讨不同时间、地理区域和其他特征的患病率差异。
我们纳入了 254 项报告围产期出生缺陷患病率的研究和 86 项仅报告特定类型出生缺陷患病率的研究。基于涵盖 74307037 例围产儿和 985115 例出生缺陷病例的 254 项研究，2000-2021 年中国内地围产期出生缺陷的汇总患病率为每 10000 例围产儿 122.54（95%CI 116.20-128.89）。总体而言，出生缺陷的围产期患病率从 2000-2004 年的每 10000 例 95.60（86.51-104.69）增加到 2020-2021 年的每 10000 例 208.94（175.67-242.22）。不同地理区域之间也存在显著差异。先天性心脏病（33.35/10000）、唇腭裂（13.52/10000）、多指（12.82/10000）、神经管缺陷（12.82/10000）和先天性代谢缺陷（11.41/10000）是最常见的五种类型出生缺陷。男性的围产期出生缺陷患病率明显高于女性（β=2.44×10，P=0.003）；母亲年龄≥35 岁的围产儿出生缺陷患病率较高（β=4.34×10，P<0.001）。
需要综合和持续努力加强出生缺陷的监测和检测，改善产前和产后保健，并促进康复，特别是在欠发达地区。
