新前沿：一例关于全外显子组测序在多种胎儿异常情况中的应用
The new frontier: a case for whole exome sequencing with multiple fetal anomalies.
作者信息
Mei Jenny Y, Dayani Lila, Platt Lawrence D
机构信息
Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, University of California, Los Angeles, CA, USA.
Laboratory Corporation of America, Monrovia, CA, USA.
出版信息
Case Rep Perinat Med. 2023 May 4;12(1):20220032. doi: 10.1515/crpm-2022-0032. eCollection 2023 Jan.
OBJECTIVES
Standard genetic testing can fail to identify an underlying genetic etiology in pregnancies affected by multiple fetal abnormalities. Recently, whole exome sequencing (WES) studies have shown promise in recognizing genetic diagnoses where standard genetic testing does not yield answers.
CASE PRESENTATION
A 35-year-old G1P0 healthy female found at anatomy scan to have multiple fetal anomalies, including severe bilateral ventriculomegaly, renal pyelectasis, and short long bones. Karyotype and microarray were normal. Whole exome sequencing showed the fetus was compound heterozygous for likely pathogenic variants in the ROBO1 gene.
CONCLUSIONS
In the presence of multiple fetal anomalies with normal karyotype and microarray, whole exome sequencing should be considered to not only provide answers for the affected parents, but also aid in future pregnancy planning.
目的
在受多种胎儿异常影响的妊娠中，标准基因检测可能无法识别潜在的遗传病因。最近，全外显子组测序（WES）研究已显示出在识别标准基因检测无法给出答案的遗传诊断方面的前景。
病例报告
一名35岁的初产妇健康女性，在解剖扫描时发现有多种胎儿异常，包括严重的双侧脑室扩大、肾盂积水和长骨短小。核型和微阵列检测结果正常。全外显子组测序显示胎儿在ROBO1基因中存在可能致病的变异，为复合杂合子。
结论
在存在核型和微阵列检测结果正常的多种胎儿异常的情况下，应考虑进行全外显子组测序，这不仅可为受影响的父母提供答案，还有助于未来的妊娠规划。
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