Non-invasive prenatal testing (NIPT) has been confirmed as the most accurate screening test for trisomies 21, 18, and 13. However, reports on NIPT performance in sex chromosome aneuploidies (SCA) based on real clinical data are still limited. High-throughput massively parallel genomic sequencing (MPS) technique was used to screen for fetal SCAs as part of the research to determine the potential value of NIPT in detecting fetal SCAs in the second trimester. A number of 12,243 consecutive cases from a single center were included in this study. The positive predictive value (PPV) of NIPT in the present study was 57.6%, which was divided and categorized by individual SCAs as follows: 21.4% for Turner syndrome (45,X), 75.0% for Triple X syndrome (47,XXX), 90.9% for Klinefelter syndrome (47,XXY), and 75.0% for XYY syndrome (47,XYY). The NIPT-based SCA test cannot be used as a diagnostic method, and performing an invasive confirmation test on NIPT-based SCA-positive cases is strongly recommended.

中文翻译：

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通过母体血浆中的无创产前检测对性染色体非整倍体进行无细胞 DNA 筛查

无创产前检测 (NIPT) 已被确认为对 21、18 和 13 三体最准确的筛查检测。然而，基于真实临床数据的性染色体非整倍体 (SCA) 中 NIPT 表现的报道仍然有限。作为研究的一部分，使用高通量大规模平行基因组测序 (MPS) 技术筛查胎儿 SCA，以确定 NIPT 在检测妊娠中期胎儿 SCA 中的潜在价值。本研究纳入了来自单个中心的 12,243 例连续病例。本研究中NIPT的阳性预测值（PPV）为57.6%，按个体SCA划分和分类如下：Turner综合征（45，X）为21.4%，Triple X综合征（47，XXX）为75.0% ，克兰费尔特综合征（47，XXY）为 90.9%，XYY 综合征（47，XYY）为 75.0%。