Potential application of fetal epigenetic markers on the non-invasive prenatal detection of chromosomal abnormality

摘要

Identification of fetal chromosomal aneuploidy is a predominant reason for pregnant women to undergo prenatal testing, most of which are invasive and carry a risk for fetal loss. The presence of fetal DNA in maternal circulation has offered an opportunity for non-invasive prenatal detection. However, this fetal DNA exists only as a minor fraction among the co-existing background of maternal DNA. Hence, the use of fetal DNA in maternal plasma to detect fetal aneuploidy is technically challenging. With the advent of massively parallel genomic sequencing (MPGS) to shotgun (non-specifically) sequence all the fetal and maternal DNA molecules, non-invasive prenatal detection of fetal trisomy 21 could now be achieved at high sensitivity and specificity.