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Updated: May 26, 2025

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用针对性下一代测序进行主导单基因疾病的非侵入性产前检测

Hongyun Zhang1, Jun He2, Yanling Teng1

  • 1Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.

QJM : monthly journal of the Association of Physicians
|February 21, 2025
PubMed
概括

这种针对主导单基因疾病的新型非侵入性产前检测 (NIPT-dSGD) 能够准确地检测出新的和遗传变异,即使没有超声波异常. 这一进步有助于对遗传疾病的早期怀孕管理.

关键词:
没有细胞的DNA DNA.占主导地位的单基因疾病.神经发育障碍 神经发育障碍非侵入性的产前检测.超声波超声波是指超声波的使用.

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