Noninvasive fetal genotyping in pregnancies at risk for PKU using a comprehensive quantitative cSMART assay for PAH gene mutations: a clinical feasibility study.

CONCLUSIONS: The newly cSMART assay demonstrated high accuracy for correctly calling fetal genotypes. We propose that this test has useful clinical utility for rapid screening of high-risk and low-risk pregnancies with a known history of PKU on one or both sides of the family. This article is protected by copyright. All rights reserved.
PMID: 31295388 [PubMed - as supplied by publisher]

Source: BJOG : An International Journal of Obstetrics and Gynaecology - July 10, 2019 Category: OBGYN Authors: Lv W, Li Z, Wei X, Zhu H, Teng Y, Zhou M, Gong Y, Cram DS, Liang D, Han L, Wu L Tags: BJOG Source Type: research