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检测NIPT未识别的染色体异常的策略
Fergus Scott1,2, May Phoo Han1, Ana Elizabeth Gomes de Melo Tavares Ferreira1,2
1Discipline of Women's Health, University of New South Wales, Randwick, Australia.
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概括
全基因组的非侵入性产前检测 (gwNIPT) 错过了微切除和三重化. 侵袭性检测,通过超声波发现或失败的gwNIPT表明,可以检测出大多数这些染色体异常.
科学领域:
- 产前诊断 在产前诊断
- 遗传学 遗传学是一种遗传学.
- 孕产妇和胎儿的医学
背景情况:
- 全基因组非侵入性产前检测 (gwNIPT) 在检测所有染色体状况方面存在局限性,特别是微删除/微重复 (MD) 和三倍性.
- 加厚的部半透明度 (NT) 是这些情况的有限指标,只能识别约10%的病例.
研究的目的:
- 为了评估gwNIPT对染色体异常的检测率.
- 通过侵入性产前检测识别导致gwNIPT错过的异常检测的因素.
主要方法:
- 一项为期4年的回顾性研究分析了经过一线GWNIPT,然后进行CVS或羊水切割的单独怀孕.
- 包括所有微删除/微复制 (MD) 病例的分析,无论之前的gwNIPT查.
主要成果:
- 在使用gwNIPT和侵入性检测的919例怀孕中,有338例患有单个染色体异常. gwNIPT有2.9%的假阴性结果,并错过了7.7%的异常 (18个MD,8个三重症).
- 大约90%的gwNIPT错过的异常通过侵入性测试检测到,原因是失败的NIPT (9%),低PAPP-A (12%),早期生长限制 (37%) 或结构异常 (51%).
- 只有9%的遗漏病例呈现出扩大的NT,其中两例也有结构异常.
结论:
- 大多数染色体异常被gwNIPT遗漏是通过侵入性测试来识别的,通常是由生长限制或结构异常而不是扩大的NT.
- 失败的gwNIPT和低的PAPP-A水平是检测错过的染色体条件的因素.
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