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- W1977015903 abstract "Ravinder Dhallan and colleagues1Dhallan R Guo X Emche S et al.A non-invasive test for prenatal diagnosis based on fetal DNA present in maternal blood: a preliminary study.Lancet. 2007; 369: 474-481Summary Full Text Full Text PDF PubMed Scopus (110) Google Scholar allude to the possible non-invasive detection of fetal aneuploidies by the quantitative analysis of paternally inherited single-nucleotide polymorphisms (SNPs) in cell-free fetal DNA. Although very high degrees of specificity were claimed, only two out of three cases with trisomy 21 were detected. Therefore this approach is no improvement over current screening strategies that use combinations of ultrasound and serum analytes. It is also inferior to that attained in a report in which cell-free fetal mRNA was used.2Lo YM Tsui NB Chiu RW et al.Plasma placental RNA allelic ratio permits noninvasive prenatal chromosomal aneuploidy detection.Nat Med. 2007; 13: 218-223Crossref PubMed Scopus (319) Google Scholar For this approach to be accepted in clinical practice, it will need to be verified independently, preferably in large multicentre studies. There are, however, several issues which will make an independent assessment difficult. These include the selection of candidate SNP loci, which is described in a patent not readily available to the research community. Additionally, how a quantitative procedure relying on numerous steps (preamplification, PCR, biotin-mediated capture, fluorescent labelling, electrophoresis, and digital imaging) can permit results involving 4 decimal places is unclear. Finally, this study relies on a former report wherein the authors suggested that the use of formaldehyde would increase the proportion of cell-free fetal DNA in maternal blood samples3Dhallan R Au WC Mattagajasingh S et al.Methods to increase the percentage of free fetal DNA recovered from the maternal circulation.JAMA. 2004; 291: 1114-1119Crossref PubMed Scopus (119) Google Scholar—a feature which could not be reproduced in several independent studies.4Chinnapapagari SK Holzgreve W Lapaire O Zimmermann B Hahn S Treatment of maternal blood samples with formaldehyde does not alter the proportion of circulatory fetal nucleic acids (DNA and mRNA) in maternal plasma.Clin Chem. 2005; 51: 652-655Crossref PubMed Scopus (43) Google Scholar, 5Chung GT Chiu RW Chan KC Lau TK Leung TN Lo YM Lack of dramatic enrichment of fetal DNA in maternal plasma by formaldehyde treatment.Clin Chem. 2005; 51: 655-658Crossref PubMed Scopus (48) Google Scholar Hence this report in its current form could be too preliminary. The research activities of the Laboratory for Prenatal Medicine and Gynaecological Oncology at the Basel University Women's Hospital Department of Research are funded by the EU (SH is the scientific director of the FP6 SAFE network) and the Swiss National Science Foundation. Additionally, a research agreement involving a patent transfer for the “non-invasive detection of fetal genetic traits” has been signed with Sequenom Inc, USA. Non-invasive prenatal diagnosis of Down's syndrome – Authors' replyIn researching methods to increase the proportion of fetal DNA recovered from maternal blood, and developing non-invasive methods for prenatal diagnosis, the main objective should be to contribute practical solutions to real-world problems. Full-Text PDF" @default.
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- W1977015903 title "Non-invasive prenatal diagnosis of Down's syndrome" @default.
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