Article
Noninvasive prenatal testing for autosomal recessive conditions by maternal plasma sequencing in a case of congenital deafness.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Dec 2014
Meng Meng, Li Xuchao, Ge Huijuan, Chen Fang, Han Mingyu, Zhang Yanyan, Kang Dongyang, Xie Weiwei, Gao Zhiying, Pan Xiaoyu, Dai Pu, Chi Fanglu, Chen Shengpei, Liu Ping, Zhang Chunlei, Cao Jianjun, Jiang Hui, Xu Xun, Wang Wei, Duan Tao
Abstract excerpt
PURPOSE: The goals of our study were to develop a noninvasive prenatal test for autosomal recessive monogenic conditions and to prove its overall feasibility and potential for clinical integration. METHODS: We recruited a pregnant woman and her spouse, who had a proband child suffering from congenital deafness, and obtained the target-region sequencing data from a semicustom array that used genomic and maternal...
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