Clinical Potential of Expanded Noninvasive Prenatal Testing for Detection of Aneuploidies and Microdeletion/Microduplication Syndromes.

IF 4.1 3区医学 Q1 GENETICS & HEREDITY

Molecular Diagnosis & Therapy Pub Date : 2023-11-01 Epub Date: 2023-09-09 DOI:10.1007/s40291-023-00674-x

Chunyan Li, Menghua Xiong, Ying Zhan, Jianfang Zhang, Guyuan Qiao, Jia Li, Hong Yang

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Abstract

Objective: We aimed to evaluate the clinical performance of expanded noninvasive prenatal testing (NIPT-Plus) for the detection of aneuploidies and microdeletion/microduplication syndromes.

Methods: A total of 7177 pregnant women were enrolled in the study from June 2020 to March 2022 at Xijing Hospital, China. Cases with NIPT-Plus-positive results were further confirmed by chromosomal karyotyping and a chromosomal microarray analysis.

Results: A total of 112 positive cases (1.56%) were identified by NIPT-Plus, including 60 chromosome aneuploidies and 52 microdeletion/microduplication syndromes. Ninety-five cases were validated by amniocentesis, and 57 were confirmed with true-positive results, comprising 18 trisomy 21, 4 trisomy 18, 1 trisomy 13, 17 sex chromosome aneuploidies, 1 other aneuploidy, and 16 microdeletion/microduplication syndromes. The positive predictive value of total chromosomal abnormalities was 60% (57/95). For trisomy 21, trisomy 18, trisomy 13, sex chromosome aneuploidies, other aneuploidies and microdeletion/microduplication syndromes, the sensitivity was all 100%, the specificity was 100, 99.986, 100, 99.888, 99.958, and 99.636%, and the positive predictive value was 100, 80, 100, 68, 25, and 38.10%, respectively. For all clinical characteristics, the abnormal maternal serum screening group was found to have the highest prevalence of chromosomal abnormalities (1.54%), and the ultrasound abnormality group presented the highest positive predictive value (73.33%).

Conclusions: NIPT-Plus has great potential for the detection of aneuploidies and microdeletion/microduplication syndromes owing to its high sensitivity, safety, and specificity, which greatly reduces unnecessary invasive procedures and the risk of miscarriage and allows informed maternal choice.

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扩大无创产前检测检测非整倍体和微缺失/微重复综合征的临床潜力。

目的：我们旨在评估扩大无创产前检测（NIPT Plus）检测非整倍体和微缺失/微重复综合征的临床性能。方法：2020年6月至2022年3月，共有7177名孕妇在中国西京医院参加了这项研究。染色体核型分析和染色体微阵列分析进一步证实了NIPT Plus阳性结果的病例。结果：NIPT Plus共鉴定出112例阳性病例（1.56%），包括60例染色体非整倍体和52例微缺失/微重复综合征。通过羊膜穿刺术验证了95例病例，57例确诊为真阳性，包括18例21三体、4例18三体、1例13三体、17例性染色体非整倍体、1例其他非整倍性和16例微缺失/微重复综合征。总染色体异常的阳性预测值为60%（57/95）。21三体、18三体、13三体、性染色体非整倍体、其他非整倍性和微缺失/微重复综合征的敏感性均为100%，特异性分别为100、99.986、100、99.888、99.958和99.636%，阳性预测值分别为100，80，100，68，25和38.10%。在所有临床特征中，异常母体血清筛查组的染色体异常发生率最高（1.54%），结论：NIPT Plus具有高灵敏度、安全性和特异性，在检测非整倍体和微缺失/微重复综合征方面具有巨大潜力，极大地减少了不必要的侵入性手术和流产风险，并允许知情的母亲选择。

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来源期刊

Molecular Diagnosis & Therapy 医学-药学

CiteScore

7.80

自引率

2.50%

发文量

审稿时长

>12 weeks

期刊介绍： Molecular Diagnosis & Therapy welcomes current opinion articles on emerging or contentious issues, comprehensive narrative reviews, systematic reviews (as outlined by the PRISMA statement), original research articles (including short communications) and letters to the editor. All manuscripts are subject to peer review by international experts.