Prenatal exomes and genomes - so much new and so much more to learn.
作者信息
Van den Veyver Ignatia B
机构信息
Department of Obstetrics and Gynecology and Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
Texas Children's Hospital, Houston, Texas, USA.
出版信息
Prenat Diagn. 2022 May;42(6):659-661. doi: 10.1002/pd.6152.
Abstract
摘要
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本文引用的文献
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The fetal sequencing consortium: The value of multidisciplinary dialog and collaboration.胎儿测序联盟：多学科对话与合作的价值。
Prenat Diagn. 2022 Jun;42(7):807-810. doi: 10.1002/pd.6190. Epub 2022 Jun 9.
2
International Society for Prenatal Diagnosis Updated Position Statement on the use of genome-wide sequencing for prenatal diagnosis.国际产前诊断学会关于使用全基因组测序进行产前诊断的最新立场声明。
Prenat Diagn. 2022 May;42(6):796-803. doi: 10.1002/pd.6157.
3
Genetic diagnosis of common fetal renal abnormalities detected on prenatal ultrasound.产前超声检查常见胎儿肾脏异常的遗传学诊断。
Prenat Diagn. 2022 Jun;42(7):894-900. doi: 10.1002/pd.6154. Epub 2022 May 5.
4
Exploring the diagnostic utility of genome sequencing for fetal congenital heart defects.探索基因组测序在胎儿先天性心脏缺陷诊断中的应用。
Prenat Diagn. 2022 Jun;42(7):862-872. doi: 10.1002/pd.6151. Epub 2022 Apr 27.
5
Diagnostic yield of whole exome data in fetuses aborted for conotruncal malformations.因圆锥动脉干畸形而终止妊娠的胎儿全外显子数据的诊断产量。
Prenat Diagn. 2022 Jun;42(7):852-861. doi: 10.1002/pd.6147. Epub 2022 Apr 23.
6
Emerging technologies for prenatal diagnosis: The application of whole genome and RNA sequencing.新兴产前诊断技术：全基因组和 RNA 测序的应用。
Prenat Diagn. 2022 May;42(6):686-696. doi: 10.1002/pd.6146. Epub 2022 Apr 18.
7
Fetal central nervous system anomalies: When should we offer exome sequencing?胎儿中枢神经系统异常：我们何时应提供外显子组测序？
Prenat Diagn. 2022 May;42(6):736-743. doi: 10.1002/pd.6145. Epub 2022 Apr 20.
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Non-immune hydrops fetalis caused by PIEZO1 compound heterozygous deletions detected only by exome sequencing.仅通过外显子组测序检测到的PIEZO1复合杂合缺失导致的非免疫性胎儿水肿。
Prenat Diagn. 2022 Jun;42(7):890-893. doi: 10.1002/pd.6142. Epub 2022 Apr 11.
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Implementing a rapid fetal exome sequencing service: What do parents and health professionals think?实施快速胎儿外显子组测序服务：父母和医疗保健专业人员的想法如何？
Prenat Diagn. 2022 May;42(6):783-795. doi: 10.1002/pd.6140. Epub 2022 Apr 14.
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Diagnostic yield of exome sequencing for prenatal diagnosis of fetal structural anomalies: A systematic review and meta-analysis.外显子组测序在产前诊断胎儿结构畸形中的诊断效能：系统评价和荟萃分析。
Prenat Diagn. 2022 May;42(6):662-685. doi: 10.1002/pd.6115. Epub 2022 May 7.
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