Accuracy of fetal gender determination in maternal plasma at 5 and 6 weeks of pregnancy

Martinhago, Ciro Dresch; Oliveira, Ricardo Manoel de; Canas, Maria do Carmo Tomitão; Vagnini, L.D.; Oliveira, J.B.A.; Petersen, Claudia G.; Franco, J.G.

doi:10.1002/pd.1592

Cited by 17 publications

(11 citation statements)

References 20 publications

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“…Fifty studies were located in Europe [3,7,8,20,25-27,29-32,35,37-40,42,46-48,50,52,53,57,59-81,94,98,103], 26 from Asia [4,9,23,24,28,34,36,44,54-56,58,82-86,88,89,91-93,96,100-102], eight from North America [13,21,22,43,51,87,97,99], two from multiple locations [49,90] and a further four from around the rest of the world [33,41,45,95]. Gestational ranges for the pregnant women varied across the studies, as did the amount of blood taken and the volume actually used for extracting DNA (see Additional file 2: Table S1).…”

Section: Resultsmentioning

confidence: 99%

Non-invasive prenatal diagnostic test accuracy for fetal sex using cell-free DNA a review and meta-analysis

et al. 2012

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BackgroundCell-free fetal DNA (cffDNA) can be detected in maternal blood during pregnancy, opening the possibility of early non-invasive prenatal diagnosis for a variety of genetic conditions. Since 1997, many studies have examined the accuracy of prenatal fetal sex determination using cffDNA, particularly for pregnancies at risk of an X-linked condition. Here we report a review and meta-analysis of the published literature to evaluate the use of cffDNA for prenatal determination (diagnosis) of fetal sex. We applied a sensitive search of multiple bibliographic databases including PubMed (MEDLINE), EMBASE, the Cochrane library and Web of Science.ResultsNinety studies, incorporating 9,965 pregnancies and 10,587 fetal sex results met our inclusion criteria. Overall mean sensitivity was 96.6% (95% credible interval 95.2% to 97.7%) and mean specificity was 98.9% (95% CI = 98.1% to 99.4%). These results vary very little with trimester or week of testing, indicating that the performance of the test is reliably high.ConclusionsBased on this review and meta-analysis we conclude that fetal sex can be determined with a high level of accuracy by analyzing cffDNA. Using cffDNA in prenatal diagnosis to replace or complement existing invasive methods can remove or reduce the risk of miscarriage. Future work should concentrate on the economic and ethical considerations of implementing an early non-invasive test for fetal sex.

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Section: Resultsmentioning

confidence: 99%

Non-invasive prenatal diagnostic test accuracy for fetal sex using cell-free DNA a review and meta-analysis

et al. 2012

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“…Detection of fetal-derived DNA in maternal circulation Initially, researchers focused on the detection of male fetalderived DNA in maternal circulation; most often, this was done using the single-copy sex-determining region Y (SRY) and/or multicopy DYS-14 sequences on the Y chromosome, which are absent in the maternal genome (Lo et al, 1997(Lo et al, , 1998Martinhago et al, 2006). Subsequently, Chan et al introduced the RASSF1A sequence as a promising universal fetal DNA marker.…”

Section: Extracellular Dna In Maternal Circulationmentioning

confidence: 99%

Extracellular Nucleic Acids in Maternal Circulation as Potential Biomarkers for Placental Insufficiency

Hromadníková

2012

DNA and Cell Biology

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“…This test became available in numerous industrialized countries in the first years of the 21 century and was independently elaborated by Brazilian researchers. [25] The test is relatively simple since one does not need next generation sequencing (NGS) but it is only looking for something absent in maternal serum, namely markers on the Y chromosomes. There is no patent war on this, and the test is cheap (in 2015 its price was around 300--400 reals, that is, approximately $80-- 100).…”

Section: The 'How' Is Used Depends On Where Is Used: Market and Regulmentioning

confidence: 99%

Localizing NIPT: Practices and meanings of non-invasive prenatal testing in China, Italy, Brazil and the UK

Zeng

Zannoni

Löwy

et al. 2016

Ethics, Medicine and Public Health

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This paper is the result of a collaborative work between researchers based in UK, Italy, China and Brazil, and aims at providing a comprehensive review of practices and meanings of Non--Invasive Prenatal Testing (NIPT) in these countries, while also highlighting the ethical implications that NIPT poses. In the first part of this paper we describe how the technology is being integrated into the 'moral economy' of prenatal testing in the different countries we analysed. The uses of NIPT differ greatly in the countries we analysed.In the second section of the paper we position NIPT within the trajectory of prenatal diagnosis that, displays the role of conflicting values and often incommensurable moral economies in the emergence of new technologies, and in their transformation into routine medical procedures. The two 'often incommensurable moral economies' are women's autonomy and individual--centred medicine, as emphasised in gynaecologists and midwives/obstetricians' public discourse; and considerations about the cost/efficacy of long--term care for people with Down Syndrome or other chromosomal--related disabilities as emphasized in public health discourses. We discuss how these two contrasting narratives are also at play (more or less covertly) in the discourses around NIPT. We then consider some of the ethical issues raised by NIPT, including the argument that NIPT will lead to a harmful bias towards people with Down Syndrome and to an increase in termination rates; and the ethical issues raised possible incidental findings resulting from a maternal chromosomal mosaicisms due to an anomalous cellular line, and other hidden abnormalities in one of the parents, including genetic diseases with late expressions in life. We note how the counselling step following incidental finding will be of the utmost importance and that in many countries, including the ones we analysed, doctors and healthcare professionals are not adequately prepared for it. We conclude that it is important that bioethics scholarship engages proactively with the ethical issues that arise at the nexus of these conflicting values and moral economies, especially as future evolutions of NIPT combined with whole genome sequencing (WGS) will affect women's reproductive decisions, and shape the scope of their reproductive choices, in a way that will lead to a completely new level of 'supervision', 'management' and 'scrutiny' of human foetuses and pregnant women. Accepted for publication June 30, 2016 Forthcoming September 20163 French key--words (Mot--clefs): diagnostique prénatal, tests prénataux non invasifs, NIPT, maladie génétique French AbstractCet article est le résultat d'une collaboration entre des chercheurs qui ont étudié l'évolution du diagnostique prénatal au Royaume Uni, en Italie, en Chine et au Brésil. Il passe en revue les pratiques liées à l'introduction des tests prénataux non invasifs (NIPT) dans ces pays, et discute les questions éthiques liées à l'introduction de cette nouvelle approche diagnostique. En Chine, en Italie, au Royaume ...

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Accuracy of fetal gender determination in maternal plasma at 5 and 6 weeks of pregnancy

Abstract: Quantitative real-time PCR and TaqMan MGB probes specific for the detection of fetal gender in maternal plasma starting at 5 weeks of gestation have good sensitivity and excellent specificity.

Cited by 17 publications

References 20 publications

Non-invasive prenatal diagnostic test accuracy for fetal sex using cell-free DNA a review and meta-analysis

Non-invasive prenatal diagnostic test accuracy for fetal sex using cell-free DNA a review and meta-analysis

Extracellular Nucleic Acids in Maternal Circulation as Potential Biomarkers for Placental Insufficiency

Localizing NIPT: Practices and meanings of non-invasive prenatal testing in China, Italy, Brazil and the UK

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