Is it feasible to select fetuses for prenatal WES based on the prenatal phenotype?
作者信息
Diderich Karin, Joosten Marieke, Govaerts Lutgarde, Van Opstal Diane, Go Attie, Knapen Maarten, Galjaard Robert-Jan, Hoefsloot Lies, Srebniak Malgorzata
机构信息
Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands.
Department of Obstetrics and Fetal Medicine, Erasmus Medical Center, Rotterdam, The Netherlands.
出版信息
Prenat Diagn. 2019 Oct;39(11):1039-1040. doi: 10.1002/pd.5522. Epub 2019 Sep 10.
Abstract
摘要
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Is it feasible to select fetuses for prenatal WES based on the prenatal phenotype?基于产前表型选择胎儿进行产前全外显子测序是否可行？
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本文引用的文献
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Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study.超声检查发现胎儿结构畸形的产前外显子组测序分析（PAGE）：一项队列研究。
Lancet. 2019 Feb 23;393(10173):747-757. doi: 10.1016/S0140-6736(18)31940-8. Epub 2019 Jan 31.
2
Whole-exome sequencing in the evaluation of fetal structural anomalies: a prospective cohort study.全外显子组测序在胎儿结构畸形评估中的应用：一项前瞻性队列研究。
Lancet. 2019 Feb 23;393(10173):758-767. doi: 10.1016/S0140-6736(18)32042-7. Epub 2019 Jan 31.
3
Joint Position Statement from the International Society for Prenatal Diagnosis (ISPD), the Society for Maternal Fetal Medicine (SMFM), and the Perinatal Quality Foundation (PQF) on the use of genome-wide sequencing for fetal diagnosis.国际产前诊断学会（ISPD）、母胎医学学会（SMFM）和围产期质量基金会（PQF）关于使用全基因组测序进行胎儿诊断的联合立场声明。
Prenat Diagn. 2018 Jan;38(1):6-9. doi: 10.1002/pd.5195.
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