Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
Centre for Rare Diseases, University of Tübingen, Tübingen, Germany.
Prenat Diagn. 2022 Jun;42(7):901-910. doi: 10.1002/pd.6170. Epub 2022 May 20.
To examine the diagnostic yield of trio exome sequencing in fetuses with multiple structural defects with no pathogenic findings in cytogenetic and microarray analyses.
We recruited 51 fetuses with two or more defects, non-immune fetal hydrops or fetal akinesia deformation syndrome|or fetal akinesia deformation sequence (FADS). Trio exome sequencing was performed on DNA from chorionic villi samples and parental blood. Detection of genomic variation and prioritization of clinically relevant variants was performed according to in-house standard operating procedures.
Median maternal and gestational age was 32.0 years and 21.0 weeks, respectively. Forty-three (84.3%) fetuses had two or more affected organ systems. The remaining fetuses had isolated fetal hydrops or FADS. In total, the exome analysis established the genetic cause for the clinical abnormalities in 22 (43.1%, 95% CI 29.4%-57.8%) pregnancies.
In fetuses with multiple defects, hydrops or FADS and normal standard genetic results, trio exome sequencing has the potential to identify genetic anomalies in more than 40% of cases.
探讨在核型分析和微阵列分析中无致病性发现的情况下，三体外显子组测序在伴有多种结构缺陷且无免疫性胎儿水肿或胎儿运动障碍性畸形综合征或胎儿运动障碍性畸形序列的胎儿中的诊断效果。
我们招募了 51 名有两个或更多缺陷、非免疫性胎儿水肿或胎儿运动障碍性畸形综合征或胎儿运动障碍性畸形序列的胎儿。对绒毛膜绒毛样本和父母血液中的 DNA 进行三体外显子组测序。根据内部标准操作规程检测基因组变异并对临床相关变异进行优先级排序。
中位母体和孕龄分别为 32.0 岁和 21.0 周。43 名（84.3%）胎儿有两个或更多受累器官系统。其余胎儿有孤立性胎儿水肿或 FADS。总的来说，外显子组分析在 22 例（43.1%，95%置信区间 29.4%-57.8%）妊娠中确定了临床异常的遗传原因。
在有多种缺陷、水肿或 FADS 且标准遗传结果正常的胎儿中，三体外显子组测序有可能在超过 40%的病例中识别出遗传异常。
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