Editorial: Emerging New Tests and Their Impact Upon the Practice of Reproductive Genetics.
作者信息
Leung Kwok-Yin, Borrell Antoni, Evans Mark I, Chen Ming
机构信息
Department of Obstetrics and Gynecology, University of Hong Kong, Hong Kong, China.
Maternal Fetal Medicine Center, Gleneagles Hospital Hong Kong, Hong Kong, China.
出版信息
Front Genet. 2021 Dec 17;12:828202. doi: 10.3389/fgene.2021.828202. eCollection 2021.
Abstract
摘要
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本文引用的文献
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Genetic Testing for Aneuploidy in Patients Who Have Had Multiple Miscarriages: A Review of Current Literature.多次流产患者非整倍体的基因检测：当前文献综述
Appl Clin Genet. 2021 Jul 23;14:321-329. doi: 10.2147/TACG.S320778. eCollection 2021.
2
Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG).妊娠期和孕前筛查常染色体隐性和 X 连锁疾病：美国医学遗传学与基因组学学会（ACMG）实践资源。
Genet Med. 2021 Oct;23(10):1793-1806. doi: 10.1038/s41436-021-01203-z. Epub 2021 Jul 20.
3
Understanding False Negative in Prenatal Testing.理解产前检测中的假阴性
Diagnostics (Basel). 2021 May 17;11(5):888. doi: 10.3390/diagnostics11050888.
4
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Kidney Int Rep. 2020 Aug 20;5(11):2042-2051. doi: 10.1016/j.ekir.2020.08.011. eCollection 2020 Nov.
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Screening for Fetal Chromosomal Abnormalities: ACOG Practice Bulletin, Number 226.筛查胎儿染色体异常：ACOG 实践公告，第 226 号。
Obstet Gynecol. 2020 Oct;136(4):e48-e69. doi: 10.1097/AOG.0000000000004084.
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Chromosomal mosaicism in human blastocysts: the ultimate diagnostic dilemma.人类囊胚中的染色体嵌合体：终极诊断难题。
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Diagnostics (Basel). 2019 Nov 11;9(4):185. doi: 10.3390/diagnostics9040185.
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