Abstract
Epigenetic markers for cell free fetal DNA in the maternal blood circulation are highly interesting in the field of non-invasive prenatal testing since such markers will offer a possibility to quantify the amount of fetal DNA derived from different chromosomes in a maternal blood sample. The aim of the present study was to define new fetal specific epigenetic markers present in placental DNA that can be utilized in non-invasive prenatal diagnosis. We have conducted a high-resolution methylation specific beadchip microarray study assessing more than 450.000 CpG sites. We have analyzed the DNA methylation profiles of 10 maternal blood samples and compared them to 12 1st trimesters chorionic samples from normal placentas, identifying a number of CpG sites that are differentially methylated in maternal blood cells compared to chorionic tissue. To strengthen the utility of these differentially methylated CpG sites to be used with methyl-sensitive restriction enzymes (MSRE) in PCR-based NIPD, we furthermore refined the list of selected sites, containing a restriction sites for one of 16 different methylation-sensitive restriction enzymes. We present a list of markers on chromosomes 13, 18 and 21 with a potential for aneuploidy testing as well as a list of markers for regions harboring sub-microscopic deletion- or duplication syndromes.
Highlights
ObjectivesThe aim of the present study was to define new fetal specific epigenetic markers present in placental DNA that can be utilized in non-invasive prenatal diagnosis
Prenatal testing by established invasive procedures such as chorionic villus sampling (CVS) or amniocentesis are associated with a risk of spontaneous abortion in a small number of pregnancies (0,5–1%)
The primary aim of our study was to identify CpG sites with different methylation in maternal blood leukocytes compared to fetal derived placental DNA, that might be used as cell-free fetal DNA (cffDNA) specific markers in non-invasive prenatal diagnosis of fetal aneuploidies
Summary
The aim of the present study was to define new fetal specific epigenetic markers present in placental DNA that can be utilized in non-invasive prenatal diagnosis. The primary aim of our study was to identify CpG sites with different methylation in maternal blood leukocytes compared to fetal derived placental DNA, that might be used as cffDNA specific markers in non-invasive prenatal diagnosis of fetal aneuploidies. In the present communication we aimed to define more sites suitable for this type of prenatal diagnosis in order to strengthen sensitivity and specificity by increasing the number of
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