Article
Noninvasive prenatal diagnosis of cobalamin C (cblC) deficiency through target region sequencing of cell-free DNA in maternal plasma.
Prenatal diagnosis - 1 Feb 2020
Han Lianshu, Chen Chao, Guo Fengyu, Ye Jun, Peng Zhiyu, Qiu Wenjuan, Wang Yaoshen, Li Wei, Zhang Huiwen, Liang Lili, Wang Yu, Wang Huanhuan, Ji Xing, Sun Jun, Gu Xuefan
Abstract excerpt
OBJECTIVE: This study aimed to validate the feasibility of haplotype-based noninvasive prenatal diagnosis (NIPD) of cobalamin C (cblC) deficiency. METHOD: This method includes three steps: First, targeted sequencing was performed on 21 families affected by cblC deficiency (including the couples and probands). Second, parental haplotypes linked with the pathogenic variant were determined using the genotypes of...
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