Yang Shaozhe, He Yanqi, Lv Jingshang, Li Rongxiang, Fu Xiuhong
Henan Key Laboratory of Fertility Protection and Aristogenesis, Luohe Central Hospital, Luohe, China.
Front Med (Lausanne). 2025 Jan 21;12:1522680. doi: 10.3389/fmed.2025.1522680. eCollection 2025.
To evaluate the clinical performance of expanded non-invasive prenatal testing (NIPT-plus) in screening for fetal chromosome aneuploidy and copy number variations (CNVs) among pregnant women with different risk factors to investigate how the target population of cell-free fetal DNA may change in NIPT-plus.
The clinical data, test results, confirmatory invasive testing outcomes, and follow-up results of 6,220 pregnant women who underwent NIPT-plus were re-viewed. The performance indicators of the positive predictive value (PPV), positive rate (PR), specificity, and sensitivity in screening for common trisomies, sex chromosomal abnormalities (SCAs), rare autosomal aneuploidies (RAAs), and CNVs were calculated. The PR or PPV of NIPT-plus for screening chromosome aneuploidy and CNVs in women of varying ages, risk factors, and clinical indications were determined.
The PRs of common trisomies, SCAs, RAAs, and CNVs in NIPT-plus were 0.71, 0.45, 0.32, and 0.59%, respectively, with 100% sensitivity and specificities ranging from 99.69 to 99.87%. The PPVs were 80.95, 30.77, 13.33, and 44.12%, respectively. The high-risk group had higher PRs and PPVs for chromosome aneuploidy, with no significant difference in screening for CNVs. NIPT-plus showed greater PR for aneuploidy in the older age group than in the younger age group, with no significant differences in CNVs screening.
NIPT-plus was able to effectively screen for chromosome aneuploidy and CNVs. The performance of CNVs screening was not significantly different among different risk factors and age groups. The target population for NIPT-plus should include all pregnant women, not just those at high risk.
评估扩展无创产前检测（NIPT-plus）在不同风险因素孕妇中筛查胎儿染色体非整倍体和拷贝数变异（CNV）的临床性能，以研究NIPT-plus中游离胎儿DNA的目标人群可能如何变化。
回顾了6220例接受NIPT-plus的孕妇的临床数据、检测结果、确诊的侵入性检测结果及随访结果。计算了在筛查常见三体、性染色体异常（SCA）、罕见常染色体非整倍体（RAA）和CNV时的阳性预测值（PPV）、阳性率（PR）、特异性和敏感性等性能指标。确定了NIPT-plus在不同年龄、风险因素和临床指征的女性中筛查染色体非整倍体和CNV的PR或PPV。
NIPT-plus中常见三体、SCA、RAA和CNV的PR分别为0.71%、0.45%、0.32%和0.59%，敏感性为100%，特异性范围为99.69%至99.87%。PPV分别为80.95%、30.77%、13.33%和44.12%。高危组染色体非整倍体的PR和PPV更高，在CNV筛查中无显著差异。NIPT-plus在老年组中对非整倍体的PR高于年轻组，在CNV筛查中无显著差异。
NIPT-plus能够有效筛查染色体非整倍体和CNV。不同风险因素和年龄组之间CNV筛查的性能无显著差异。NIPT-plus的目标人群应包括所有孕妇，而不仅仅是高危孕妇。
