在产前严重的双侧心室巨血症中使用外体序列测序的诊断产量:系统性审查和元分析

Hiba J Mustafa1, Enaja V Sambatur2, Julie P Barbera3

  • 1Department of Obstetrics and Gynecology, Division of Maternal-Fetal Medicine, Indiana University School of Medicine, Indianapolis, IN (Dr Mustafa); Fetal Center at Riley Children's Health, Indiana University Health, Indianapolis, IN (Dr Mustafa).

概括

产前外体组序列测定在针对严重腹腔巨变的染色体微阵列分析后具有显著的诊断价值. 这种方法可以识别遗传原因,特别是在非孤立的病例中,改善复杂的产前疾病的诊断产量.

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