Department of Obstetrics and Gynaecology, Yong Loo Lin School of Medicine, National University of Singapore, Singapore.
Department of Obstetrics and Gynecology, Mt. Sinai School of Medicine, New York, NY, USA.
Prenat Diagn. 2017 Nov;37(11):1067-1075. doi: 10.1002/pd.5161. Epub 2017 Oct 26.
Non-invasive prenatal screening (NIPS) has revolutionized the approach to prenatal fetal aneuploidy screening. Many commercial providers now offer analyses for sub-chromosomal copy number variations (CNVs). Here, we review the use of NIPS in the context of screening for microdeletions and microduplications, issues surrounding the choice of disorders tested for, and the advantages and disadvantages associated with the inclusion of microdeletions to current NIPS. Several studies have claimed benefits; however, we suggest that microdeletions have not demonstrated a low enough false positive rate to be deemed practical or ethically acceptable, especially considering their low positive predictive values. Because a positive NIPS result should be confirmed using diagnostic techniques, and false positive rates are as high as 90% for some microdeletions, diagnostic testing seems preferable when the goal is to maximize the detection of microdeletion or microduplication syndromes.
非侵入性产前筛查（NIPS）彻底改变了产前胎儿非整倍体筛查的方法。现在，许多商业供应商都提供亚染色体拷贝数变异（CNV）的分析。在这里，我们回顾了 NIPS 在筛查微缺失和微重复方面的应用，讨论了选择要检测的疾病的问题，以及将微缺失纳入当前 NIPS 的优缺点。有几项研究声称具有优势；然而，我们认为微缺失的假阳性率还不够低，无法被认为是实用或符合伦理的，尤其是考虑到其低阳性预测值。因为阳性的 NIPS 结果应该使用诊断技术来确认，并且对于某些微缺失，假阳性率高达 90%，因此当目标是最大限度地检测微缺失或微重复综合征时，诊断测试似乎更为可取。
