Retrospective study on NIPT or NIPT plus combined with ultrasound in screening fetal chromosomal abnormalities

作者：Meilin Chen, Peisong Chen, Siyang Yu, Lu Ai, Xuegao Yu, Ruizhi Wang, Jinghai Yan, Lin Shaobin · 发表于：Scientific Reports · 年份：2025 · DOI：10.1038/s41598-025-97230-w · 被引用次数：9 · 研究领域：Prenatal Screening and Diagnostics、Parvovirus B19 Infection Studies、Congenital Anomalies and Fetal Surgery

This retrospective study analyzed 306 pregnant women, with 182 undergoing genetic testing using NIPT plus and CMA, and 124 undergoing standard NIPT and CMA. The study aimed to compare the clinical performance of NIPT and NIPT plus in prenatal evaluation by using CMA as the gold standard to assess the diagnostic efficiency of the two screening methods. NIPT plus and NIPT results were correlated with ultrasound findings to evaluate their accuracy and clinical utility. The diagnostic performance of each method was compared against CMA to assess sensitivity, specificity, false positive and false negative rates, as well as positive predictive value and negative predictive value. The combined use of NIPT plus and ultrasound significantly improved the detection rate of sex chromosome aneuploidy (SCA), microdeletion/microduplication syndromes (MMS), and rare autosomal trisomies (RAT) compared to NIPT plus alone. Ultrasound combined with NIPT plus achieved the highest sensitivity (88.24%) for SCA/RAT/ MMS. However, NIPT plus exhibited a higher false positive rate compared to standard NIPT. In contrast, NIPT combined with ultrasound demonstrated the highest PPV (88.89%) for common trisomies (T13, T18, T21). False negatives were more prevalent in standard NIPT, particularly for SCA, MMS, and RAT, emphasizing its limitations for detecting complex chromosomal abnormalities. NIPT plus, when combined with ultrasound, offers significant improvements in the detection of rare chromosomal abnor...