Chapter 18. Non-invasive Prenatal Diagnosis: An epigenetic approach to the detection of common fetal chromosome disorders by analysis of maternal blood samples.

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 highthroughput approach. The methylation patterns of chromosomes 13, 18, 21 and the sex chromosomes in female peripheral blood, CVS and placental DNA have been analyzed extensively. 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 as well as sex chromosome abnormalities (initially XXY, XYY, XXX and XO).