Article
Non-Invasive Prenatal Diagnosis of Lethal Skeletal Dysplasia by Targeted Capture Sequencing of Maternal Plasma.
PloS one - 1 Jan 2016
Dan Shan, Yuan Yuan, Wang Yaoshen, Chen Chao, Gao Changxin, Yu Song, Liu Yan, Song Wei, Asan, Zhu Hongmei, Yang Ling, Deng Hongmei, Su Yue, Yi Xin
Abstract excerpt
BACKGROUND: Since the discovery of cell-free foetal DNA in the plasma of pregnant women, many non-invasive prenatal testing assays have been developed. In the area of skeletal dysplasia diagnosis, some PCR-based non-invasive prenatal testing assays have been developed to facilitate the ultrasound diagnosis of skeletal dysplasias that are caused by de novo mutations. However, skeletal dysplasias are a group of...
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