基于NGS中间副本号的PGT-A马赛克:是时候停止报告了吗?
1Geisinger Medical Center, Women's Health Fertility Clinic, Danville, PA, USA. gerardcampos10@gmail.com.
Journal of assisted reproduction and genetics
|September 22, 2023
概括
由于技术因素,在植入前遗传测试 (PGT-A) 中的马赛克主义往往被高估. 目前的方法应该只报告euploid或aneuploid结果以获得更好的准确性.
科学领域:
- 生殖生物学 生殖生物学
- 遗传学 遗传学 是一个
- 胚胎学 胚胎学
背景情况:
- trofhectoderm (TE) 活检中的马赛克主义是PGT-A.的一个公认的现象.
- 它的临床意义和准确的诊断仍然具有挑战性,因为技术变化和解释问题.
- 目前的马赛克主义门是基于简化的模型,这些模型并不反映现实世界中的活检变异性.
研究的目的:
- 评估下一代测序 (NGS) 在PGT-A.A期间诊断马赛克的可靠性.
- 评估TE活检结果与内细胞质 (ICM) 染色体状态之间的相关性.
- 建议改善PGT-A报告的临床实用性.
主要方法:
- 对NGS中间染色体复制号的分析.
- TE活检结果与ICM染色体状况的比较.
- 使用二进制 (euploid/aneuploid) 与三进制 (包括马赛克) 分类的诊断准确性的评估.
主要成果:
- 中间NGS配置文件并不是马赛克主义的确切证据,并且可能源于诸如放大偏差或污染之类的技术工件.
- TE马赛克症的诊断显示与ICM状态的相关性很差,经常高估形状.
- 二元分类 (euploid/aneuploid) 提高了识别异常胚胎被丢弃的特异性和准确性.
结论:
- 目前的PGT-A方法可能会高估马赛克主义,导致误解并影响遗传咨询.
- 对NGS结果的二进制分类 (euploid/aneuploid) 比报告马赛克主义更准确.
- 实验室应考虑将PGT-A报告限制在euploid和aneuploid诊断中,直到诊断特异性和临床影响得到更好的理解.
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