リセシブ単一遺伝子の疾患のためのノベルハプロタイプベースの非侵襲性産前診断:概念実証研究

Chao Chen1,2, Yaping Zhu2, Lu Jiang2

  • 1College of Life Sciences, University of Chinese Academy of Sciences, Beijing, China.

Clinical genetics
|February 13, 2026
PubMed
まとめ

DiHNIPDと呼ばれる新しい方法は,胎児のハプロタイプを直接決定することによって,単一遺伝子疾患 (SGD) の正確な非侵襲性産前診断 (NIPD) を可能にします. このユーザーフレンドリーなアプローチは,高リスク妊娠に敏感で安価な戦略を提供します.

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