Article
First-trimester noninvasive prenatal diagnosis of seven facioscapulohumeral muscular dystrophy type 1 families using SNP-based amplicon sequencing: An earlier, rapid and safer way.
American journal of medical genetics. Part A - 1 Jun 2024
Fu Xinyu, Zhao Zhenhua, Kong Lingrong, Li Shaojun, Li Feifei, Han Xiujuan, Sun Luming, Wu Di, Wang Yanan, Kong Xiangdong
Abstract excerpt
The study is to explore the feasibility and value of SNP-based noninvasive prenatal diagnosis (NIPD) for facioscapulohumeral muscular dystrophy type 1 (FSHD1) in early pregnancy weeks. We prospectively collected seven FSHD1 families, with an average gestational age of 8+6. Among these seven couples, there were three affected FSHD1 mothers and four affected fathers. A multiplex-PCR panel comprising 402 amplicons...
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