We describe results obtained by Methylated DNA immunoprecipitation (MeDiP) in combination with high resolution oligonucleotide microarray analysis to enable chromosome-wide identification of DNA methylation patterns in a high-throughput approach. We have analyzed extensively the methylation patterns of chromosomes 13, 18, 21 and the sex chromosomes in female peripheral blood, CVS and placental DNA. Such markers will now be tested with respect to their utility for non-invasive/minimally invasive prenatal diagnosis (NIPD/MIPD) of trisomy 13, 18, and 21 (associated with the Patau, Edwards and Down syndromes, respectively) as well as sex chromosome abnormalities (in the first instance the XXY-Klinefelter, XYY, XXX and X-Turner syndromes).

Minimally Invasive Prenatal Diagnosis: An epigenetic approach to the detection of common fetal chromosome disorders by analysis of maternal blood samples.

Floriana Della Ragione;Maurizio D'Esposito;
2010

Abstract

We describe results obtained by Methylated DNA immunoprecipitation (MeDiP) in combination with high resolution oligonucleotide microarray analysis to enable chromosome-wide identification of DNA methylation patterns in a high-throughput approach. We have analyzed extensively the methylation patterns of chromosomes 13, 18, 21 and the sex chromosomes in female peripheral blood, CVS and placental DNA. Such markers will now be tested with respect to their utility for non-invasive/minimally invasive prenatal diagnosis (NIPD/MIPD) of trisomy 13, 18, and 21 (associated with the Patau, Edwards and Down syndromes, respectively) as well as sex chromosome abnormalities (in the first instance the XXY-Klinefelter, XYY, XXX and X-Turner syndromes).
2010
978-90-481-9381-3
prenatal diagnosis; fetal; maternal plasma; DNA methylation; aneuploidy
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/20.500.14243/128109
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