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).
American journal of obstetrics & gynecology MFM
|June 13, 2023
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.
科学领域:
- 医学遗传学 医学遗传学
- 产前诊断 在产前诊断
- 基因组医学是基因组医学.
背景情况:
- 双边严重的腹腔大是一个重要的产前诊断.
- 染色体微阵列分析 (CMA) 是一种标准的遗传测试,但很大一部分病例仍未被诊断出来.
- 产前外体序列测序 (PES) 为无法解释的病例提供了更广泛的遗传分析.
结论:
- 产前外体序列测定表明,在双边严重腹腔巨病例中,在阴性染色体微阵列分析后,诊断产量增加.
- 即使在单独的严重腹腔大脑病例中,也需要考虑PES.
- 识别与严重腹腔大相关的遗传变异有助于理解和管理这些疾病.
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