Performance of noninvasive prenatal screening for fetal sex chromosome aneuploidies in a cohort of 116,862 pregnancies.

IF 3.9 3区医学 Q1 PATHOLOGY

Expert Review of Molecular Diagnostics Pub Date : 2024-05-01 Epub Date: 2024-03-25 DOI:10.1080/14737159.2024.2333951

Yanfei Xu, Jianbo Lou, Yeqing Qian, Pengzhen Jin, Yangwen Qian, Jiawei Hong, Yuqing Xu, Yixuan Yin, Songjia Yi, Minyue Dong

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引用次数: 0

Abstract

Background: Noninvasive prenatal screening (NIPS) has shown good performance in screening common aneuploidies. However, its performance in detecting fetal sex chromosome aneuploidies (SCAs) needs to be evaluated in a large cohort.

Research design and methods: In this retrospective observation, a total of 116,862 women underwent NIPS based on DNA nanoball sequencing from 2015 to 2022. SCAs were diagnosed based on karyotyping or chromosomal microarray analysis (CMA). Among them, 2,084 singleton pregnancies received karyotyping and/or CMA. The sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV) of NIPS for fetal SCAs were evaluated.

Results: The sensitivity was 97.7% (95%CI, 87.7-99.9), 87.3% (95% CI, 76.5-94.4), 96.1% (95%CI, 86.5-99.5), and 95.7% (95% CI, 78.1-99.9), the PPV was 25.8% (95%CI, 19.2-33.2), 80.9% (95%CI, 69.5-89.4), 79.0% (95%CI, 66.8-88.3), and 53.7% (95%CI, 37.4-69.3) for 45,X, 47,XXY, 47,XXX, and 47,XYY, respectively. The specificity was 94.1% (95%CI, 93.0-95.1) for 45,X, and more than 99.0% for sex chromosome trisomy (SCT). The NPV was over 99.0% for all.

Conclusions: NIPS screening for fetal SCAs has high sensitivity, specificity and NPV. The PPV of SCAs was moderate, but that of 45,X was lower than that of SCTs. Invasive prenatal diagnosis should be recommended for high-risk patients.

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在 116,862 例妊娠中对胎儿性染色体非整倍体进行无创产前筛查的结果。

背景：无创产前筛查（NIPS）在筛查常见非整倍体方面表现良好。然而，它在检测胎儿性染色体非整倍体（SCA）方面的表现还需要在大规模的队列中进行评估：在这项回顾性观察中，共有116862名女性在2015年至2022年期间接受了基于DNA纳米球测序的NIPS。SCA根据核型或染色体微阵列分析（CMA）进行诊断。其中，2084 例单胎妊娠接受了核型分析和/或染色体微阵列分析。评估了NIPS对胎儿SCA的敏感性、特异性、阳性预测值（PPV）和阴性预测值（NPV）：敏感性为 97.7%（95%CI，87.7-99.9），特异性为 87.3%（95%CI，76.5-94.4），阳性预测值为 96.1%（95%CI，86.5-99.5），阴性预测值为 95.7%（95%CI，78.1-99.9）。45,X、47,XXY、47,XXX 和 47,XYY 的 PPV 分别为 25.8%（95%CI，19.2-33.2）、80.9%（95%CI，69.5-89.4）、79.0%（95%CI，66.8-88.3）和 53.7%（95%CI，37.4-69.3）。45,X 的特异性为 94.1%（95%CI，93.0-95.1），性染色体三体（SCT）的特异性超过 99.0%。结论：结论：NIPS筛查胎儿SCA具有较高的灵敏度、特异性和NPV。结论：NIPS 筛查胎儿 SCA 的敏感性、特异性和 NPV 均较高，SCA 的 PPV 中等，但 45,X 的 PPV 低于 SCT。建议对高风险患者进行侵入性产前诊断。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Expert Review of Molecular Diagnostics 医学-病理学

CiteScore

6.60

自引率

0.00%

发文量

审稿时长

1 months

期刊介绍： Expert Review of Molecular Diagnostics (ISSN 1473-7159) publishes expert reviews of the latest advancements in the field of molecular diagnostics including the detection and monitoring of the molecular causes of disease that are being translated into groundbreaking diagnostic and prognostic technologies to be used in the clinical diagnostic setting. Each issue of Expert Review of Molecular Diagnostics contains leading reviews on current and emerging topics relating to molecular diagnostics, subject to a rigorous peer review process; editorials discussing contentious issues in the field; diagnostic profiles featuring independent, expert evaluations of diagnostic tests; meeting reports of recent molecular diagnostics conferences and key paper evaluations featuring assessments of significant, recently published articles from specialists in molecular diagnostic therapy. Expert Review of Molecular Diagnostics provides the forum for reporting the critical advances being made in this ever-expanding field, as well as the major challenges ahead in their clinical implementation. The journal delivers this information in concise, at-a-glance article formats: invaluable to a time-constrained community.