Y-chromosome identification in circulation cell-free fetal DNA by PCR

Prenatal diagnosis of fetal sex requires invasive methods such as chorionic villus sampling (CVS) and amniocentesis, which carry a risk of miscarriage of around 1% and can only be safely conducted after 11 weeks of pregnancy. After the discovery of cell-free foetal DNA/RNA (cffDNA/RNA) in maternal plasma in 1977, the possibility to use this cffDNA/RNA for non-invasive prenatal diagnosis (NIPT) has been investigated many times. cffDNA has been found to be fragmented (smaller than 200 bp) that in most cases originated from placental trophoblast cells. cffDNA has been identified by a variety of fetus specific markers, such as chromomosome Yspecific sequences (SRY gene), epigenetic markers, and SNPs. In this study, non-invasive determination of fetal sex was performed by polymerase chain reaction (PCR), and detection of Y-chromosome specific sequences (SRY gene) in maternal plasma. Absence of Y-chromosome sequences in maternal plasma implies that the fetus is female. In this study, early determination of fetal gender using cffDNA can be considered as a non-invasive pretest

کلیدواژه ها:

NIPT ، cffDNA ، Sex determination ، SRY gene ، PCR