Positive predictive value estimates for noninvasive prenatal testing from data of a prenatal diagnosis laboratory and literature review.

IF 1.3 4区生物学 Q4 GENETICS & HEREDITY

Molecular Cytogenetics Pub Date : 2022-07-06 DOI:10.1186/s13039-022-00607-z

Siping Liu, Fang Yang, Qingxian Chang, Bei Jia, Yushuang Xu, Ruifeng Wu, Liyan Li, Weishan Chen, Ailan Yin, Fodi Huang, Suxin Feng, Fenxia Li

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引用次数: 3

Abstract

Objective: Since 2011, noninvasive prenatal testing (NIPT) has undergone rapid expansion, with both utilization and coverage. However, conclusive data regarding the clinical validity and utility of this testing tool are lacking. Thus, there is a continued need to educate clinicians and patients about the current benefits and limitations in order to inform pre- and post-test counseling, pre/perinatal decision making, and medical risk assessment/management.

Methods: This retrospective study included women referred for invasive prenatal diagnosis to confirm positive NIPT results between January 2017 and December 2020. Prenatal diagnosis testing, including karyotyping, chromosomal microarray analysis (CMA) were performed. Positive predictive values (PPVs) were calculated.

Results: In total, 468 women were recruited. The PPVs for trisomies 21, 18, and 13 were 86.1%, 57.8%, and 25.0%, respectively. The PPVs for rare chromosomal abnormalities (RCAs) and copy number variants (CNVs) were 17.0% and 40.4%, respectively. The detection of sex chromosomal aneuploidies (SCAs) had a PPV of 20% for monosomy X, 23.5% for 47,XXX, 68.8% for 47,XXY, and 62.5% for 47,XYY. The high-risk groups had a significant increase in the number of true positive cases compared to the low- and moderate-risk groups.

Conclusions: T13, monosomy X, and RCA were associated with lower PPVs. The improvement of cell-free fetal DNA screening technology and continued monitoring of its performance are important.

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从产前诊断实验室的数据和文献综述中估计无创产前检查的阳性预测值。

目的:自2011年以来，无创产前检查(NIPT)的应用和覆盖范围迅速扩大。然而，关于该测试工具的临床有效性和实用性的结论性数据缺乏。因此，有必要继续教育临床医生和患者，了解目前的益处和局限性，以便为检测前和检测后咨询、产前/围产期决策和医疗风险评估/管理提供信息。方法:本回顾性研究纳入2017年1月至2020年12月期间进行有创产前诊断以确认NIPT阳性结果的妇女。产前诊断检测，包括核型，染色体微阵列分析(CMA)。计算阳性预测值(PPVs)。结果:共招募了468名女性。21、18、13三体的ppv分别为86.1%、57.8%、25.0%。罕见染色体异常(RCAs)和拷贝数变异(CNVs)的ppv分别为17.0%和40.4%。性染色体非整倍体(SCAs)的检出率X单体为20%，47,xxx为23.5%，47,xxy为68.8%，47,xyy为62.5%。与低风险组和中风险组相比，高风险组的真阳性病例数量显著增加。结论:T13、X单体和RCA与ppv降低有关。无细胞胎儿DNA筛查技术的改进和对其性能的持续监测是重要的。

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

Molecular Cytogenetics GENETICS & HEREDITY-

CiteScore

2.60

自引率

7.70%

发文量

审稿时长

>12 weeks

期刊介绍： Molecular Cytogenetics encompasses all aspects of chromosome biology and the application of molecular cytogenetic techniques in all areas of biology and medicine, including structural and functional organization of the chromosome and nucleus, genome variation, expression and evolution, chromosome abnormalities and genomic variations in medical genetics and tumor genetics. Molecular Cytogenetics primarily defines a large set of the techniques that operate either with the entire genome or with specific targeted DNA sequences. Topical areas include, but are not limited to: -Structural and functional organization of chromosome and nucleus- Genome variation, expression and evolution- Animal and plant molecular cytogenetics and genomics- Chromosome abnormalities and genomic variations in clinical genetics- Applications in preimplantation, pre- and post-natal diagnosis- Applications in the central nervous system, cancer and haematology research- Previously unreported applications of molecular cytogenetic techniques- Development of new techniques or significant enhancements to established techniques. This journal is a source for numerous scientists all over the world, who wish to improve or introduce molecular cytogenetic techniques into their practice.