非侵入性产前检测 (NIPT):结合拷贝数变异和基因分析,使用"内部"目标丰富下一代测序-非集中式NIPT实验室的解决方案?
Lucie Faldynová1, Sylwia Walczysková1, Dita Černá1
1Department of Molecular and Clinical Pathology and Medical Genetics, University Hospital Ostrava, Ostrava, Czech Republic.
Prenatal diagnosis
|August 21, 2023
概括
在常规实验室中,对拷贝数变异 (CNV) 和基因分析的向丰富是可行的. 然而,验证无细胞胎儿DNA需要更多的控制和生物信息学,这表明非侵入性产前检测 (NIPT) 最好在专业中心进行.
科学领域:
- 遗传学 是一个遗传学.
- 分子生物学分子生物学
- 产前诊断 在产前诊断
背景情况:
- 最近的进展是通过目标丰富集成副本数变异 (CNV) 和基因分析.
- 本研究评估将这种综合方法转移到常规遗传实验室环境中,独立于集中非侵入性产前检测 (NIPT) 设施.
研究的目的:
- 通过在非专业化实验室中使用目标丰富来评估联合CNV和基因分析的可行性和有效性.
- 确定该方法用于检测染色体异常和基因变异的灵敏度和特异性.
- 将结果与侵入性测试方法进行比较.
主要方法:
- 来自22名孕妇的母体基因组DNA (gDNA) 和胎儿无细胞DNA的分析.
- 针对135个基因的缩和对21号,18号,13号,X号和Y号染色体的分析.
- 特异性和灵敏性分析,与侵入性测试结果相关联.
主要成果:
- CNV分析的灵敏度/特异性:染色体21 (80%/75%),18 (-/82%),13 (100%/67%),Y (100%/100%). 染色体21 (80%/75%),18 (-/82%),13 (100%/67%),Y (100%/100%). 染色体21 (80%/75%),18 (-/82%),13 (100%/67%),Y (100%/100%). 染色体21 (80%/75%) 染色体21 (80%/75%) 染色体21 (80%/82%) 染色体21 (%) 染色体21 (%) 染色体21 (%) 染色体21 (%) 染色体21 (%) 染色体21 (%) 染色体21 (%) 染色体21 (%)
- 基因检测对母亲的gDNA有效.
- 在无细胞胎儿DNA中区分文物和真实变体是具有挑战性的.
结论:
- 针对联合CNV和基因检测的缩目标在常规实验室中可能是可行的.
- 优化需要强大的控制和生物信息学支持.
- 目前的发现表明,NIPT最好在专门的中心进行,以确保数据有效性.
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