Division of Maternal-Fetal Medicine, Department of Obstetrics & Gynecology, School of Medicine, University of Utah, Salt Lake City, UT.
Department of Pathology, VCU School of Medicine, Virginia Commonwealth University, Richmond, VA.
Genet Med. 2022 Jul;24(7):1379-1391. doi: 10.1016/j.gim.2022.03.019. Epub 2022 May 24.
Noninvasive prenatal screening (NIPS) using cell-free DNA has been assimilated into prenatal care. Prior studies examined clinical validity and technical performance in high-risk populations. This systematic evidence review evaluates NIPS performance in a general-risk population.
Medline (PubMed) and Embase were used to identify studies examining detection of Down syndrome (T21), trisomy 18 (T18), trisomy 13 (T13), sex chromosome aneuploidies, rare autosomal trisomies, copy number variants, and maternal conditions, as well as studies assessing the psychological impact of NIPS and the rate of subsequent diagnostic testing. Random-effects meta-analyses were used to calculate pooled estimates of NIPS performance (P < .05). Heterogeneity was investigated through subgroup analyses. Risk of bias was assessed.
A total of 87 studies met inclusion criteria. Diagnostic odds ratios were significant (P < .0001) for T21, T18, and T13 for singleton and twin pregnancies. NIPS was accurate (≥99.78%) in detecting sex chromosome aneuploidies. Performance for rare autosomal trisomies and copy number variants was variable. Use of NIPS reduced diagnostic tests by 31% to 79%. Conclusions regarding psychosocial outcomes could not be drawn owing to lack of data. Identification of maternal conditions was rare.
NIPS is a highly accurate screening method for T21, T18, and T13 in both singleton and twin pregnancies.
游离 DNA 的非侵入性产前筛查（NIPS）已被纳入产前护理。先前的研究检查了高危人群的临床有效性和技术性能。本系统证据综述评估了 NIPS 在一般风险人群中的表现。
使用 Medline（PubMed）和 Embase 来确定研究检测唐氏综合征（T21）、18 三体综合征（T18）、13 三体综合征（T13）、性染色体非整倍体、罕见常染色体三体、拷贝数变异和母体状况的研究，以及评估 NIPS 的心理影响和随后诊断性检测率的研究。使用随机效应荟萃分析计算 NIPS 性能的汇总估计值（P<.05）。通过亚组分析研究异质性。评估偏倚风险。
共有 87 项研究符合纳入标准。对于单胎和双胎妊娠，T21、T18 和 T13 的诊断优势比均具有统计学意义（P<.0001）。NIPS 检测性染色体非整倍体的准确率（≥99.78%）。罕见常染色体三体和拷贝数变异的性能存在差异。NIPS 的使用将诊断性检测减少了 31%至 79%。由于缺乏数据，无法得出关于社会心理结果的结论。母体疾病的识别很少见。
NIPS 是一种在单胎和双胎妊娠中对 T21、T18 和 T13 具有高度准确性的筛查方法。
