通过对孕妇血浆进行无创产前检测来筛查游离DNA中的性染色体非整倍体。
Cell-free DNA screening for sex chromosome aneuploidies by non-invasive prenatal testing in maternal plasma.
作者信息
Wang Yipeng, Li Shanshan, Wang Wei, Dong Yuan, Zhang Meng, Wang Xin, Yin Chenghong
机构信息
Prenatal Diagnostic Center, Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing, 100026 China.
出版信息
Mol Cytogenet. 2020 Mar 12;13:10. doi: 10.1186/s13039-020-0478-5. eCollection 2020.
Abstract
BACKGROUND
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.
METHODS
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.
RESULTS
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).
CONCLUSION
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.
摘要
背景
无创产前检测（NIPT）已被确认为针对21、18和13三体综合征最准确的筛查检测方法。然而，基于真实临床数据的NIPT在性染色体非整倍体（SCA）方面表现的报告仍然有限。
方法
采用高通量大规模平行基因组测序（MPS）技术筛查胎儿SCA，作为确定NIPT在孕中期检测胎儿SCA潜在价值研究的一部分。本研究纳入了来自单一中心的12243例连续病例。
结果
本研究中NIPT的阳性预测值（PPV）为57.6%，按个体SCA分类如下：特纳综合征（45,X）为21.4%，XXX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%。
结论
基于NIPT的SCA检测不能用作诊断方法，强烈建议对基于NIPT的SCA阳性病例进行侵入性确诊检测。
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