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本文引用的文献

1
Non-Invasive Chromosomal Evaluation (NICE) Study: results of a multicenter prospective cohort study for detection of fetal trisomy 21 and trisomy 18.非侵入性染色体评估（NICE）研究：一项多中心前瞻性队列研究的结果，用于检测胎儿 21 三体和 18 三体。
Am J Obstet Gynecol. 2012 Aug;207(2):137.e1-8. doi: 10.1016/j.ajog.2012.05.021. Epub 2012 Jun 1.
2
Genome-wide fetal aneuploidy detection by maternal plasma DNA sequencing.基于母体外周血游离 DNA 测序的全基因组胎儿非整倍体检测
Obstet Gynecol. 2012 May;119(5):890-901. doi: 10.1097/AOG.0b013e31824fb482.
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DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as Down syndrome: an international collaborative study.母体血浆 DNA 测序可靠地鉴定出 18 三体、13 三体和唐氏综合征：一项国际合作研究。
Genet Med. 2012 Mar;14(3):296-305. doi: 10.1038/gim.2011.73. Epub 2012 Feb 2.
4
DNA sequencing of maternal plasma to detect Down syndrome: an international clinical validation study.母体外周血游离 DNA 测序用于唐氏综合征的检测：一项国际临床验证研究。
Genet Med. 2011 Nov;13(11):913-20. doi: 10.1097/GIM.0b013e3182368a0e.
5
Non-invasive prenatal assessment of trisomy 21 by multiplexed maternal plasma DNA sequencing: large scale validity study.应用多重母体外周血游离 DNA 测序进行非侵入性产前唐氏综合征 21 三体的检测：大规模有效性研究。
BMJ. 2011 Jan 11;342:c7401. doi: 10.1136/bmj.c7401.
6
Noninvasive prenatal diagnosis of fetal chromosomal aneuploidy by massively parallel genomic sequencing of DNA in maternal plasma.通过对母血中DNA进行大规模平行基因组测序实现胎儿染色体非整倍体的无创产前诊断。
Proc Natl Acad Sci U S A. 2008 Dec 23;105(51):20458-63. doi: 10.1073/pnas.0810641105. Epub 2008 Dec 10.
7
Noninvasive diagnosis of fetal aneuploidy by shotgun sequencing DNA from maternal blood.通过对母血中的DNA进行鸟枪法测序来无创诊断胎儿非整倍体。
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8
First-trimester or second-trimester screening, or both, for Down's syndrome.孕早期或孕中期唐氏综合征筛查，或两者皆做。
N Engl J Med. 2005 Nov 10;353(19):2001-11. doi: 10.1056/NEJMoa043693.
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First and second trimester antenatal screening for Down's syndrome: the results of the Serum, Urine and Ultrasound Screening Study (SURUSS).孕早期和孕中期唐氏综合征产前筛查：血清、尿液及超声筛查研究（SURUSS）结果
J Med Screen. 2003;10(2):56-104. doi: 10.1258/096914103321824133.
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First-trimester screening for trisomies 21 and 18.孕早期21三体和18三体综合征筛查
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早孕期非整倍体筛查的历史和实践回顾。

A historical and practical review of first trimester aneuploidy screening.

机构信息

Maternal Fetal Medicine, McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, School of Medicine, Baltimore, MD, USA.

Maternal Fetal Medicine, McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, School of Medicine, Baltimore, MD, USA.

出版信息

Semin Fetal Neonatal Med. 2014 Jun;19(3):183-7. doi: 10.1016/j.siny.2013.11.013. Epub 2013 Dec 14.

DOI:10.1016/j.siny.2013.11.013
PMID:24333205
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6596981/
Abstract

There have been tremendous advancements over the past three decades in prenatal screening for aneuploidy and we have changed our practice from screening by maternal age alone to 'combined' first trimester screening and circulating cell-free fetal DNA. We currently use the nuchal translucency and biochemical markers of free β-hCG and PAPP-A to determine the risk of fetal aneuploidy. The primary goal is to identify higher risk women for fetal aneuploidy early in pregnancy and give them the option to pursue invasive testing in a timely manner if desired.

摘要

在过去的三十年中，产前非整倍体筛查取得了巨大的进展，我们已经改变了仅通过母亲年龄进行筛查的做法，转而采用“联合”的早孕期筛查和循环游离胎儿 DNA 筛查。我们目前使用颈项透明层和游离β-hCG 和 PAPP-A 的生化标志物来确定胎儿非整倍体的风险。主要目标是在妊娠早期识别出具有更高胎儿非整倍体风险的女性，如果需要，及时为她们提供进行有创性检测的选择。