在基因相关的胎儿生长限制中对型,微阵列和整个外体序列的比较诊断评估
Libing Luo1,2, Chunchun Chen1,2, Cindy Ka Yee Cheung1,3
1Prenatal Diagnosis Centre, The University of Hong Kong-Shenzhen Hospital, Shenzhen 518053, China.
Diagnostics (Basel, Switzerland)
|January 28, 2026
概括
先进的遗传测试,包括染色体微阵列分析 (CMA) 和三基全外体序列测序 (trio-WES),显著改善了胎儿生长限制 (FGR) 的诊断. 这种顺序方法可以确定更多的遗传原因,有助于咨询和管理.
科学领域:
- 产科和妇科 产科和妇科
- 医学遗传学 医学遗传学
- 基因组医学是基因组医学.
背景情况:
- 胎儿生长限制 (FGR) 是一种严重的妊娠并发症,具有严重的短期和长期风险.
- 孤立FGR的遗传基础尚未完全理解,这阻碍了诊断和管理.
- 目前的FGR遗传诊断方法需要改进.
研究的目的:
- 系统地调查孤立的FGR.的遗传原因.
- 评估结合型定型,染色体微阵列分析 (CMA) 和三基整体外体组序列 (trio-WES) 的诊断实用性.
- 为了确定顺序基因测试策略的增量诊断产量.
主要方法:
- 对153个具有孤立FGR的胎儿进行了回顾性分析.
- 序列基因检测:卡里奥型,CMA和三WES用于CMA阴性病例.
- 评估致病变体,拷贝数变异 (CNVs),单亲异构 (UPD) 和母亲遗传状况.
主要成果:
- 在7.8%的病例中,CMA确定了致病性CNVs/UPD,与型化相比增量收益率为5.9%.
- 在50个CMA阴性病例的Trio-WES中,诊断率为24%,在这个子组的14%中确定了致病变体.
- 通过Trio-WES检测到单亲异构 (UPD) 和CMA忽略的单基因缺陷,以及偶然发现和母亲的条件.
结论:
- 序列CMA和三WES显著提高了孤立FGR的诊断产量.
- 三WES对于识别UPD和单基因变异至关重要,它补充了CMA发现.
- 整合先进的遗传检测可以改善FGR的病因诊断,遗传咨询和管理策略.
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