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Differential DNA methylation as a tool for noninvasive prenatal diagnosis (NIPD) of X chromosome aneuploidies
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Della Ragione, Floriana, Mastrovito, Paola, Campanile, Ciro, Conti, Anna, Papageorgiou, Elisavet A., Hultén, Maj A., Patsalis, Philippos C., Carter, Nigel P. and D'Esposito, Maurizio. (2010) Differential DNA methylation as a tool for noninvasive prenatal diagnosis (NIPD) of X chromosome aneuploidies. The Journal of Molecular Diagnostics, Vol.12 (No.6). pp. 797-807. ISSN 1525-1578
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Official URL: http://dx.doi.org/10.2353/jmoldx.2010.090199
Abstract
The demographic tendency in industrial countries to delay childbearing, coupled with the maternal age effect in common chromosomal aneuploidies and the risk to the fetus of invasive prenatal diagnosis, are potent drivers for the development of strategies for noninvasive prenatal diagnosis One breakthrough has been the discovery of differentially methylated cell free fetal DNA in the maternal circulation We describe novel bisulfite conversion and methylation sensitive enzyme digestion DNA methylation related approaches that we used to diagnose Turner syndrome from first trimester samples We used an X linked marker, EF3, and an autosomal marker, RASSF1A, to discriminate between placental and maternal blood cell DNA using real time methylation specific PCR after bisulfite conversion and real time PCR after methylation sensitive restriction digestion By normalizing EF3 amplifications versus RASSF1A outputs, we were able to calculate sex chromosome/autosome ratios in chorionic villus samples, thus permitting us to correctly diagnose Turner syndrome The identification of this new marker coupled with the strategy outlined here may be instrumental in the development of an efficient, noninvasive method of diagnosis of sex chromosome aneuploidies in plasma samples (J Mol Diagn 2010, 12 797-807, DOI 10.2353/jmoldx.2010.090199)
| Item Type: | Journal Article |
|---|---|
| Subjects: | R Medicine > RB Pathology |
| Divisions: | Faculty of Medicine > Warwick Medical School |
| Journal or Publication Title: | The Journal of Molecular Diagnostics |
| Publisher: | Elsevier Inc. |
| ISSN: | 1525-1578 |
| Date: | November 2010 |
| Volume: | Vol.12 |
| Number: | No.6 |
| Number of Pages: | 11 |
| Page Range: | pp. 797-807 |
| Identification Number: | 10.2353/jmoldx.2010.090199 |
| Status: | Peer Reviewed |
| Publication Status: | Published |
| Access rights to Published version: | Restricted or Subscription Access |
| Funder: | SAFE Network of Excellence European Commission, Wellcome Trust |
| Grant number: | LSHB CT 2004 503243, WT077008 |
| URI: | http://wrap.warwick.ac.uk/id/eprint/4614 |
Data sourced from Thomson Reuters' Web of Knowledge
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