Noninvasive prenatal testing using cell-free fetal DNA in maternal plasma.

Noninvasive prenatal testing using cell-free fetal DNA in maternal plasma.
Curr Protoc Hum Genet. 2015;84:8.15.1-8.15.20
Authors: Dharajiya N, Zwiefelhofer T, Guan X, Angkachatchai V, Saldivar JS
Abstract
Noninvasive prenatal testing (NIPT) represents an outstanding example of how novel scientific discoveries can be quickly and successfully developed into hugely impactful clinical diagnostic tests. Since the introduction of NIPT to detect trisomy 21 in late 2011, the technology has rapidly advanced to analyze other autosomal and sex chromosome aneuploidies, and now includes the detection of subchromosomal deletion and duplication events. Here we provide a brief overview of how noninvasive prenatal testing using next-generation sequencing is performed. © 2015 by John Wiley & Sons, Inc.
PMID: 25599670 [PubMed - in process]

Source: Current Protocols in Human Genetics - January 21, 2015 Category: Genetics & Stem Cells Tags: Curr Protoc Hum Genet Source Type: research