noninvasive fetal sex determination by real-time pcr and taqman probes

Background: noninvasive fetal sex determination by analyzing y chromosome-specific sequences is very useful in the management of cases related to sex-linked genetic diseases. the aim of this study was to establish a non-invasive fetal sex determination test using real-time pcr and specific probes.methods: the study was a prospective observational cohort study conducted from august 2018 to september 2019. venous blood samples were collected from 25 iranian pregnant women at weeks 7 to 25 of gestation. cell-free dna (cfdna) was isolated from the plasma of samples and fetal sex was determined by sry gene analysis using the real-time pcr technique. in the absence of sry detection, the presence of fetal dna was investigated using cfdna treated with bstui enzyme and pcr for the epigenetic marker rassf1a.results: of the total samples analyzed, 48% were male and 52% female. the rassf1a assay performed on sry negative cases also confirmed the presence of cell-free fetal dna. genotype results were in full agreement with neonate gender, and the accuracy of noninvasive fetal sex determination was 100%.conclusions: fetal sex determination using the strategy applied in this study is noninvasive and highly accurate and can be exploited in the management of sex-linked genetic diseases.