遗传起源的应用 在非侵入性产前检测中对拷贝数变异的分析
Jing Wang1, Qing-Wen Zhu1, Ai-Ming Cui2
1Prenatal Diagnosis Center, Affiliated Maternity and Child Health Care Hospital of Nantong University, Nantong, China.
Prenatal diagnosis
|October 19, 2024
概括
在非侵入性产前检测 (NIPT) 中对副本数变异 (CNV) 的遗传起源分析可以提高产前诊断的准确性. 这种方法可以提高患者对诊断程序的坚持,从而为孕妇带来更可靠的结果.
科学领域:
- 遗传学 是一个遗传学.
- 产前诊断 在产前诊断
- 生物信息学是一种生物信息学.
背景情况:
- 非侵入性产前检测 (NIPT) 是对胎儿染色体异常的查工具.
- 副本数变异 (CNVs) 是遗传疾病的重要贡献者.
- 在NIPT中区分孕产妇和胎儿的CNV对于准确诊断至关重要.
研究的目的:
- 评估在非侵入性产前检测 (NIPT) 中对复制数变异 (CNVs) 的遗传起源分析的应用.
- 建立一个扩大NIPT临床实用性的基础.
- 提高 CNVs 的产前诊断的准确性和患者的坚持.
主要方法:
- 基因组测序 (CNV-Seq) 在35317个NIPT样本上进行.
- 一个CNV呼叫管道在母体血中发现了亚染色体异常.
- CNVs的遗传起源是通过比较基马化比率和无细胞胎儿DNA (cffDNA) 度来确定的.
主要成果:
- 109个怀孕有临床显著的阳性CNV结果:65个母/胎儿 (M/F) -CNV和44个胎儿 (F) -CNV.
- 致病性/可能致病性 (P/LP) -F-CNV更频繁,有异常的血清学或超声检测结果 (p < 0.05).
- 与M/F组相比,F-CNV组显示出明显更高的产前诊断率 (95.45%) 和积极预测值 (85.71%),分别为26.15%和52.95%,p <0.05).
结论:
- 对CNVs的遗传起源分析有效地提高了对产前诊断的坚持.
- 这种方法显著提高了通过NIPT检测到的CNV产前诊断的准确性.
- 这些发现支持NIPT与原产地分析的扩大临床应用.
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