高龄孕妇产前筛查与产前诊断策略评估

Prenatal Screening and Diagnostic Strategies in Advanced Maternal Age

摘要: 目的：探讨不同产前诊断诊断指征的高龄孕妇胎儿染色体异常的发生率和各种优生学检查的诊断效能，为出生缺陷防控提供依据。方法：纳入了2019~2024年在苏北人民医院产检并完成随访的高龄孕妇3378例，按指征及年龄分组，以羊水穿刺结果或分娩新生儿结局为金标准，比较异常检出率并评估NIPT的诊断效能。结果：胎儿染色体异常总检出率为5.57% (56/1005)，组1检出3例T21 (11.5%)和1例T18 (3.8%)；组2检出9例T21 (27.3%)、1例T18 (3.0%)及3例SCA (9.1%)；组3检出微缺失/微重复3例(9.7%)；组4检出7例T21 (0.77%)、5例SCA (0.55%)、9例平衡易位(0.98%)及14例微缺失/微重复(1.5%)。NIPT对T21、T18及SCA的灵敏度均为100.0%，特异度为97.1%、99.3%和97.2%；染色体异常检出率随年龄增长而升高，不同年龄组间差异有统计学意义(χ² = 14.935, P < 0.001)。结论：高龄孕妇胎儿染色体异常随年龄增加而升高，单纯高龄预测不足，应结合其他产前诊断指征，NIPT筛查效力较高，必要时仍需行染色体微阵列分析排除拷贝数变异(CNV)。

Abstract: Objective: To investigate the incidence of fetal chromosomal abnormalities and the diagnostic performance of various eugenics screening methods in advanced‑age pregnant women with different prenatal diagnostic indications, providing a basis for birth defect prevention and control. Methods: A total of 3378 advanced‑age pregnant women who underwent antenatal care and completed follow‑up at Northern Jiangsu People’s Hospital from 2019 to 2024 were included. They were grouped according to indication and age. Using amniocentesis results or neonatal delivery outcomes as the gold standard, abnormal detection rates were compared and the diagnostic efficacy of non‑invasive prenatal testing (NIPT) was evaluated. Results: The overall detection rate of fetal chromosomal abnormalities was 5.57% (56/1005). Group 1 detected 3 cases of T21 (11.5%) and 1 case of T18 (3.8%); Group 2 detected 9 cases of T21 (27.3%), 1 case of T18 (3.0%), and 3 cases of sex chromosome abnormalities (SCA, 9.1%); Group 3 detected 3 cases of microdeletions/microduplications (9.7%); Group 4 detected 7 cases of T21 (0.77%), 5 cases of SCA (0.55%), 9 cases of balanced translocations (0.98%), and 14 cases of microdeletions/microduplications (1.5%). The sensitivity of NIPT for T21, T18, and SCA was 100.0%, with specificities of 97.1%, 99.3%, and 97.2%, respectively. The detection rate of chromosomal abnormalities increased with maternal age, showing a statistically significant difference among age groups (χ² = 14.935, P < 0.001). Conclusion: The incidence of fetal chromosomal abnormalities in advanced‑age pregnant women rises with increasing maternal age. Prediction based on age alone is insufficient and should be combined with other prenatal diagnostic indications. NIPT shows high screening efficacy, but chromosomal microarray analysis (CMA) remains necessary when needed to exclude copy number variations (CNV).