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We prospectively collected seven FSHD1 families, with an average gestational age of 8<jats:sup>+6<\/jats:sup>. Among these seven couples, there were three affected FSHD1 mothers and four affected fathers. A multiplex\u2010PCR panel comprising 402 amplicons was designed to selective enrich for highly heterozygous SNPs upstream of the <jats:italic>DUX4<\/jats:italic> gene. Risk haplotype was constructed based on familial linkage analysis. Fetal genotypes were accurately inferred through relative haplotype dosage analysis using Bayes Factor. All tests were successfully completed in a single attempt, and no recombination events were detected. NIPD results were provided within a week, which is 4\u2009weeks earlier than karyomapping and 7\u2009weeks earlier than Bionano single\u2010molecule optical mapping (BOM). Ultimately, five FSHD1 fetuses and two normal fetuses were successfully identified, with a 100% concordance rate with karyomapping and BOM. Therefore, SNP\u2010based NIPD for FSHD1 was demonstrated to be feasible and accurate in early weeks of gestation, although the risk of recombination events cannot be completely eliminated. In the future, testing of more cases is still necessary to fully determine the clinical utility.<\/jats:p>","DOI":"10.1002\/ajmg.a.63560","type":"journal-article","created":{"date-parts":[[2024,2,8]],"date-time":"2024-02-08T12:14:21Z","timestamp":1707394461000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["First\u2010trimester noninvasive prenatal diagnosis of seven facioscapulohumeral muscular dystrophy type 1 families using <scp>SNP<\/scp>\u2010based amplicon sequencing: An earlier, rapid and safer way"],"prefix":"10.1002","volume":"194","author":[{"given":"Xinyu","family":"Fu","sequence":"first","affiliation":[{"name":"Genetic and Prenatal Diagnosis Center The First Affiliated Hospital of Zhengzhou University  Zhengzhou China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhenhua","family":"Zhao","sequence":"additional","affiliation":[{"name":"Genetic and Prenatal Diagnosis Center The First Affiliated Hospital of Zhengzhou University  Zhengzhou China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lingrong","family":"Kong","sequence":"additional","affiliation":[{"name":"Genetic and Prenatal Diagnosis Center The First Affiliated Hospital of Zhengzhou University  Zhengzhou China"},{"name":"Department of Fetal Medicine &amp; Prenatal Diagnosis Center, Shanghai First Maternity and Infant Hospital, School of Medicine Tongji University  Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shaojun","family":"Li","sequence":"additional","affiliation":[{"name":"Celula (China) Medical Technology Co., Ltd.  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