新前沿:一例全外显子组测序与多个胎儿异常

IF 0.1 Q4 OBSTETRICS & GYNECOLOGY
Jenny Y. Mei, L. Dayani, L. Platt
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引用次数: 0

摘要

【摘要】目的标准的基因检测不能确定多胎畸形妊娠的潜在遗传病因。最近,全外显子组测序(WES)研究显示出在识别基因诊断方面的希望,而标准基因检测无法给出答案。病例介绍:一名35岁G1P0健康女性,解剖扫描发现多重胎儿异常,包括严重的双侧脑室肿大、肾盂扩张、短长骨。核型和芯片检测正常。全外显子组测序显示胎儿为复合杂合,可能是ROBO1基因的致病变异。结论对于存在多例正常核型和基因芯片的胎儿异常,全外显子组测序不仅可以为患病父母提供答案,而且有助于未来的妊娠计划。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
The new frontier: a case for whole exome sequencing with multiple fetal anomalies
Abstract 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.
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来源期刊
Case Reports in Perinatal Medicine
Case Reports in Perinatal Medicine OBSTETRICS & GYNECOLOGY-
自引率
0.00%
发文量
37
期刊介绍: Case Reports in Perinatal Medicine is a double-blind peer-reviewed journal. The objective of the new journal is very similar to that of JPM. In addition to evidence-based studies, practitioners in clinical practice esteem especially exemplary reports of cases that reveal specific manifestations of diseases, its progress or its treatment. We consider case reports and series to be brief reports describing an isolated clinical case or a small number of cases. They may describe new or uncommon diagnoses, unusual outcomes or prognosis, new or infrequently used therapies and side effects of therapy not usually discovered in clinical trials. They represent the basic concept of experiences for studies on representative groups for further evidence-based research. The potential roles of case reports and case series are: Recognition and description of new diseases Detection of drug side effects (adverse or beneficial) Study of mechanisms of disease Medical education and audit Recognition of rare manifestations of disease.
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