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Non-invasive prenatal testing for aneuploidy: current status and future prospects.非侵入性产前检测非整倍体:现状与未来展望。
Ultrasound Obstet Gynecol. 2013 Jul;42(1):15-33. doi: 10.1002/uog.12513.
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Noninvasive prenatal testing: impact on genetic counseling, invasive prenatal diagnosis, and trisomy 21 detection.无创产前检测:对遗传咨询、侵入性产前诊断及21三体检测的影响
J Clin Ultrasound. 2015 Jan;43(1):1-6. doi: 10.1002/jcu.22243. Epub 2014 Oct 9.
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[Combined first trimester screening and cell-free fetal DNA - “next generation screening”].孕早期联合筛查与游离胎儿DNA——“下一代筛查”
Ultraschall Med. 2014 Jun;35(3):229-36. doi: 10.1055/s-0034-1366353. Epub 2014 Apr 24.
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Comparing Non-invasive Prenatal Testing With Invasive Testing for the Detection of Trisomy 21.比较无创产前检测与侵入性检测对21三体综合征的检测效果
Cureus. 2022 Nov 8;14(11):e31252. doi: 10.7759/cureus.31252. eCollection 2022 Nov.
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A dPCR-NIPT assay for detections of trisomies 21, 18 and 13 in a single-tube reaction-could it replace serum biochemical tests as a primary maternal plasma screening tool?一种用于在单个反应管中检测 21、18 和 13 三体的 dPCR-NIPT 检测方法——它能否取代血清生化检测作为主要的母体血浆筛查工具?
J Transl Med. 2022 Jun 15;20(1):269. doi: 10.1186/s12967-022-03455-y.
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The consequences of implementing non-invasive prenatal testing in Dutch national health care: a cost-effectiveness analysis.在荷兰国家医疗保健体系中实施非侵入性产前检测的后果:一项成本效益分析。
Eur J Obstet Gynecol Reprod Biol. 2014 Nov;182:53-61. doi: 10.1016/j.ejogrb.2014.08.028. Epub 2014 Aug 30.
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Health economic evaluation of noninvasive prenatal testing and serum screening for down syndrome.非侵入性产前检测和唐氏综合征血清筛查的健康经济评估。
PLoS One. 2022 Apr 14;17(4):e0266718. doi: 10.1371/journal.pone.0266718. eCollection 2022.
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[Non invasive prenatal test (NIPT) in maternal blood by parallel massive sequencing. Initial experience in Mexican women and literature review].[通过平行大规模测序检测孕妇血液中的无创产前检测(NIPT)。墨西哥女性的初步经验及文献综述]
Ginecol Obstet Mex. 2015 May;83(5):277-88.

PMID:25654151
Abstract

Recent advances in genomic sequencing and bioinformatics have led to development of noninvasive detection methods with detection rates approaching those obtained with amniocentesis and chorionic villus sampling (CVS). Recently, a novel prenatal testing method has become available. This method, known as non-invasive prenatal testing (NIPT), is a molecular approach for assessing fetal aneuploidy using cell-free fetal deoxyribonucleic acid (cffDNA) from the plasma of pregnant women. NIPT has a false positive rate of about 0.2% and detection rate of about 98% for Down syndrome. NIPT has been used for assessing abnormalities such as trisomy 21, trisomy 18, and trisomy 13. Approximately 10% to 15% of the cell free deoxyribonucleic acid (DNA) in maternal blood comprises of cffDNA. The half-life of cffDNA is short and clears from maternal circulation soon after delivery. Hence, there is no risk of fetal DNA persisting from one pregnancy to the next and confounding test results. The cost of NIPT ranges from US$800 to US$2000 in the USA and from US$500 to US$1500 elsewhere. A Canadian economic study reported a cost range of C$600 to C$800 for NIPT. Among other factors, cost implications for introducing this new technology in clinical practice will need to be considered. At present there is some uncertainty around the incorporation of NIPT into current strategies for prenatal screening and diagnosis. The purpose of this report is to provide information on the cost-effectiveness of non-invasive pre-natal testing and to describe evidence-based guidelines for its use.

摘要