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一组32名患有遗传骨疾病的胎儿的基因组测序

Hillevi Lindelöf^1,2, Anna Hammarsjö^1,2, Ulrika Voss^1,3

¹Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.

European journal of human genetics : EJHG

|June 11, 2025

概括

产前超声波可以检测200多种遗传骨疾病. 基因组测序在32个胎儿中实现了72%的诊断产量,有助于识别这些复杂的疾病.

科学领域:

医学遗传学医学遗传学
产前诊断在产前诊断
骨发育不良症骨发育不良症

背景情况:

通过超声波可以在产前检测到200多种遗传骨疾病.
产前诊断骨发育不良是具有挑战性的,因为许多疾病和重叠的超声检查结果.
怀孕的早期和晚期三个月分别显示出严重和较轻的骨发育不良现象型.

研究的目的:

为了评估基因组测序对胎儿遗传骨疾病的诊断产量.
将遗传发现与受影响胎儿的放射和表型数据相关联.
为了提高在产前超声波检测到的骨异常的诊断率.

主要方法:

在32个胎儿DNA样本上进行了单体基因组测序,使用了骨发育不良的基因组.
三组基因组测序用于最初未解决的分子诊断的六个病例.
表型和放射数据与遗传测序结果相结合.

主要成果:

基因组测序实现了72%的诊断产量,在32个胎儿中的23个胎儿中确定了致病性/可能致病性变体.
在四个怀疑患有自体逆行性疾病的胎儿中发现了四种不确定的变异.
在五个胎儿中,遗传诊断仍未解决.

结论:

将表型数据与单个基因组测序结合起来,显著提高了胎儿骨疾病的遗传诊断率.
基因组测序是诊断产前出现的复杂遗传骨疾病的强大工具.
进一步的研究可能会阐明剩余的未解决病例的遗传基础.

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