Fellow, Division of Maternal Fetal Medicine.
Professor, Divisions of Reproductive Genetics and Maternal Fetal Medicine, Department of Obstetrics and Gynecology, Hospital of the University of Pennsylvania, Philadelphia, PA.
Obstet Gynecol Surv. 2020 May;75(5):317-320. doi: 10.1097/OGX.0000000000000787.
Prenatal genetic diagnosis can guide pregnancy management and decision making. Genetic diagnosis has advanced rapidly, and chromosomal microarray has become widely used, in addition to conventional karyotype. Exome sequencing may provide an even higher detection rate of genetic anomalies and may be more commonly applied in the future.
The objectives of this manuscript are to review current practices in prenatal genetic diagnosis, define exome sequencing, identify scenarios in which exome sequencing may be indicated, identify potential concerns regarding exome sequencing, and review the importance for the general obstetrician-gynecologist to understand exome sequencing technology and its uses.
A MEDLINE search of "prenatal genetic testing," "chromosomal microarray," "conventional karyotype," or "exome sequencing" in the review was performed.
The evidence cited in this review includes 6 medical society committee opinions and 17 additional peer-reviewed journal articles that were original research or expert opinion summaries.
Exome sequencing may be a useful prenatal genetic diagnostic tool in cases with ultrasound anomalies with previously normal chromosomal microarray and/or karyotype. As more data become available, technology improves, and costs fall, exome sequencing may become more widely used in prenatal genetic diagnosis.
产前基因诊断可指导妊娠管理和决策。除了传统的核型分析外，染色体微阵列已广泛应用，基因外显子组测序也有了快速的发展。外显子组测序可能提供更高的遗传异常检测率，未来可能更常用。
本文旨在回顾产前基因诊断的当前实践，定义外显子组测序，确定外显子组测序可能适用的情况，识别外显子组测序的潜在问题，并探讨普通妇产科医生理解外显子组测序技术及其用途的重要性。
对 MEDLINE 上的“产前基因检测”、“染色体微阵列”、“常规核型”或“外显子组测序”进行了文献检索。
本综述引用的证据包括 6 项医学协会委员会意见和 17 项额外的同行评议期刊文章，这些文章是原始研究或专家意见总结。
在外显子组测序可在先前正常的染色体微阵列和/或核型的超声异常情况下，作为一种有用的产前基因诊断工具。随着更多的数据、技术的改进和成本的降低，外显子组测序可能会在产前基因诊断中得到更广泛的应用。
