Red Flower Publications

Abstract

Introduction: Chromosomal aneuploidies are a common type of chromosomal defect that may impose heavy burdens on society and families. The most common chromosomal aneuploidies among the embryos are trisomies 21, 18, and 13. Prenatal screening and diagnosis are often used in prenatal care, and it seems to be a very useful tool for doctors and women to make informed decisions about the continuation of pregnancies involved with genetic diseases. Prenatal non-invasive tests using cell-free fetal DNA (cff DNA) are a method for testing trisomy in embryos using the peripheral blood sample of the pregnant mother.Considering the fact that most of the studies carried out on cellfree DNA have been in high-risk populations, this study attempted to examine the results of cell-free DNA in a population of low-risk aneuploidy pregnant women. Materials and Methods: In this retrospective study, the study population was all pregnant women (n= 410), who underwent aneuploidy screening during the first or second trimester (with a lowrisk result in Quad test) in 2015- 2016 and were at the risk of trisomies 13, 18, and 21evaluated using cell-free DNA test. Results: The mean age of pregnant women was 31.5 years and 92.0% of the subjects were naturally pregnant and only 8.1% had used Assisted Reproductive Techniques (ART). Of these, 5.9% were fertilized by IVF and 2.2% by IUI method. Results of cf DNA in all pregnant women were negative. Conclusion: According to the results of this study, cf DNA testing results in all low risk pregnant women were negative and it is not recommended as a routine test in pregnant women reported as a low risk pregnancy in serum screening.

Keywords: Low-Risk Pregnancy; Aneuploidy Risk; Aneuploidy Screen; Cellfree DNA.