胎儿游离DNA
产前诊断
胎儿
数字聚合酶链反应
打字
先天性肾上腺增生
生物
DNA
基因
怀孕
聚合酶链反应
产科
遗传学
医学
作者
Cathy Meaney,Gail Norbury
出处
期刊:Methods in molecular biology
日期:2010-10-05
卷期号:: 155-172
被引量:6
标识
DOI:10.1007/978-1-60761-947-5_11
摘要
The discovery of cell-free fetal DNA in the maternal plasma of pregnant women has facilitated the development of non-invasive prenatal diagnosis (NIPD). This has been successfully implemented in diagnostic laboratories for Rhesus typing and fetal sex determination for X-linked disorders and congenital adrenal hyperplasia (CAH) from 7 weeks gestation. Using real-time PCR, fluorescently labelled target gene specific probes can identify and quantify low copy number fetal-specific sequences in a high background of maternal DNA in the cell-free DNA extracted from maternal plasma. NIPD to detect specific fetal mutations in single gene disorders, currently by standard PCR techniques, can only be undertaken for paternally derived or de novo mutations because of the background maternal DNA. For routine use, this testing is limited by the large amounts of cell-free maternal DNA in the sample, the lack of universal fetal markers, and appropriate reference materials.
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