医学
胎儿游离DNA
产科
基因检测
染色体
产前筛查
三体
产前诊断
高龄产妇
怀孕
胎儿
遗传学
内科学
生物
基因
作者
Peter Benn,Howard Cuckle
出处
期刊:Clinical Obstetrics and Gynecology
[Ovid Technologies (Wolters Kluwer)]
日期:2023-07-17
卷期号:66 (3): 536-556
被引量:5
标识
DOI:10.1097/grf.0000000000000803
摘要
Although nearly all noninvasive prenatal testing is currently based on analyzing circulating maternal cell-free DNA, the technical methods usedvary considerably. We review the different methods. Based on validation trials and clinical experience, there are mostly relatively small differences in screening performance for trisomies 21, 18, and 13 in singleton pregnancies. Recent reports show low no-call rates for all methods, diminishing its importance when choosing a laboratory. However, method can be an important consideration for twin pregnancies, screening for sex chromosome abnormalities, microdeletion syndromes, triploidy, molar pregnancies, rare autosomal trisomies, and segmental imbalances, and detecting maternal chromosome abnormalities.
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