Pages: 25-30

Abstract

Non-invasive prenatal genetic testing (NIPT) can effectively use to detect circulating cell-free fetal DNA (cffDNA) in maternal peripheral blood which is a prenatal screening with great potential. The purpose of this study was to evaluate feasibility of NIPT by using Quantitative Fluorescence-Polymerase Chain Reaction (QF-PCR) in maternal peripheral blood and compare with amniocentesis (AC) and chorionic villus sampling (CVS) methods for detection of chromosomal abnormalities. One hundred pregnant women aged between 15-46 years with 10-20 weeks of gestation after grouping by exclusion of criteria were enrolled in this study. Total abnormalities by amniocentesis were detected in 19 cases (21.11%). A total of 10 cases were evaluated by CVS that four of them were observed with one of the chromosomal abnormalities. Fetal DNA was extracted from the mother's blood and multiplex PCR reaction was performed using the “Aneufast QF-PCR” kit and the product was electrophoresed in “ABI Genetic Analyzer”. Totally, four cases of Down syndrome, Edward syndrome, Turner syndrome, and triploidy were reported. The results of this study indicate that it is possible to detect most of the numerical chromosomal abnormalities by QF-PCR technique. The structural chromosomal abnormalities including chromosomal polymorphism 15 ps+, chromosomal polymorphism 14ps+, pericentric inversion of chromosome 9, robertsonian translocation rob (14;21) (q10; q10), chromosomal translocation t (2;10) (q10; q10), and unknown marker were not identified. Precise prenatal diagnosis of embryonic chromosomal abnormalities by AC and/or CVS are the most common indication of prenatal assays, because the cffDNA analysis alone cannot detect all possible chromosomal abnormalities.