在胎儿中产前全外序列测序,胎儿的鼻透光度增加
Chunge Cao1, Fang Liu2, Yan Yang3
1Prenatal Diagnosis Center, The Second Affiliated Hospital of Zhengzhou University, Zhengzhou, China.
Molecular genetics & genomic medicine
|September 28, 2023
概括
整体外体测序 (WES) 仅在额外的异常出现时,对胎儿增加后透光度 (NT) 有价值. 早期超声波可以识别最有可能从产前WES测试中受益的胎儿.
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.
- 胎儿医学 胎儿医学
背景情况:
- 妊娠第一季度部透光度 (NT) 的增加是已知的胎儿遗传疾病风险标志物.
- 研究先进的基因测试对胎儿的实用性与孤立增加NT至关重要.
研究的目的:
- 为了评估整个外体序列测序 (WES) 的诊断产量,在胎儿呈现与孤立增加的第一季度部半透明度 (NT).
主要方法:
- 通过QF-PCR和CMA,通过QF-PCR和CMA排序 (WES) 进行了对63名胎儿的整体外体序列测定,这些胎儿在排除了动脉增生和副本数变异 (CNV) 后,单独增加了NT (≥3.5毫米).
- 遗传分析的重点是识别与增加NT相关的致病变体.
主要成果:
- 对于孤立增加的NT,WES的整体诊断率为4.8% (3/63).
- 在37.5% (3/8) 的胎儿中检测到致病变体,这些胎儿后来发展出了额外的结构异常.
- 没有发现任何致病变体在增加NT解决或保持孤立的情况下.
结论:
- 产前WES对于增加的NT是最有效的,当存在额外的胎儿异常.
- 建议进行早期和详细的超声波查,以识别具有通过WES更高基因诊断概率的胎儿.
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