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在7734个低风险怀孕中,高透性拷贝数变异的患病率

Lena Sagi-Dain¹, Liat Salzer Sheelo², Dana Brabbing-Goldstein²

¹Genetics Institute, Carmel Medical Center, affiliated to the Ruth and Bruce Rappaport Faculty of Medicine, Technion - Israel Institute of Technology, Haifa, Israel (XX Sagi-Dain).

American journal of obstetrics & gynecology MFM

|October 23, 2023

概括

在低风险怀孕中,高透性拷贝数变异的流行率为0.43%. 这种风险对于在正常的非侵入性查后进行侵入性产前检测的产妇决策具有重要意义.

科学领域:

遗传学遗传学是一个
产前诊断在产前诊断
生殖医学生殖医学

背景情况:

染色体微阵列分析 (CMA) 在~1%的低风险怀孕中揭示了临床显著的副本数变异 (CNV).
这些CNV包括低透率和可变透率的变体,这些变体可能对所有患者都不具有临床意义.

研究的目的:

为了确定高透性CNVs在低风险怀孕的大量队列中的流行率.
提供有关产前检测选项的信息决策的数据.

主要方法:

对CMA的回顾性分析结果来自低风险怀孕的正常超声波和母体血清查.
排除低,中或未知透度的CNV,包括特定类型的马赛克和单亲异构.
在整体队列中计算高透性冠状病毒率,按母亲年龄分层,并且在理论上排除了通过非侵入性产前查 (NIPS) 检测到的发现后.

主要成果:

在7734个低风险妊娠中,高透性CNV被检测到0.43% (1:234).
年龄在35岁以上的女性 (0.51%) 的发病率高于年轻女性 (0.20%).
在排除了NIPS可检测的发现后,高透性CNV率总体下降到0.27%.

结论:

在低风险怀孕中,高透性CNVs的风险很大,可能会超过侵入性测试导致流产的风险.
这些发现对于遗传咨询师和产科医生来说至关重要,以指导考虑侵入性产前检测的患者.
了解高透性CNVs的患病率和影响,有助于母亲做出明智的决策.

关键词:

一个染色体微阵列.副本编号变体副本编号变体非侵入性的产前查.产前诊断产前诊断产前诊断产前查产前查产前查

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