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在出生后被诊断出来 - - 但在出生之前就能被检测出来? 一项关于产前检测潜力的队列研究

Allison Schartman1, Olivia Woods1, Leah Wetherill1

  • 1Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana, USA.

Prenatal diagnosis
|January 24, 2026
PubMed
概括

基因组测序和外基因组测序为产前遗传检测提供了高的诊断产量. 目前的查方法在检测罕见遗传疾病方面存在局限性,这表明需要更新高风险怀孕的指导方针.

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