Tabriz University of Medical Sciences Journal of Research in Clinical Medicine 2717-0616 5 1 2017 03 10 Sex determination using free fetal DNA in early pregnancy: With the approach to sex linked recessive disorders 15 19 10.15171/jarcm.2017.004 EN Amir Monfaredan Shahrokh Amiri Seyed Mahmoud Tabatabaei Journal Article 10.15171/jarcm.2017.004 2016 11 30 2017 01 02 Introduction: Prenatal diagnosis is testing for detection of diseases or conditions in a fetus or embryo before it is born. Most of prenatal diagnostic (PD) techniques are invasive and done in late stages of pregnancy. Using fetal DNA in maternal blood for fetal sex determination in early pregnancy might help in management of X-linked genetic diseases. This study aimed to investigate the accuracy of sex determination using fetal DNA in maternal blood at 8-12 weeks of gestation. Methods: In this cross-sectional study, 30 pregnant women at 8-12 weeks of gestation were enrolled. The sex-determining region Y (SRY) gene expression with the internal control (IC) glyceraldehyde 3-phosphate dehydrogenase (GAPDH) was investigated with quantitative real-time polymerase chain reaction (PCR) using specific primers and probes. Results: Accuracy of sex determination with SRY gene expression in 8-12 weeks of pregnancy were 85%, 85%, 90% and 100% respectively. Conclusion: It seems that fetal sex determining using fetal DNA in maternal blood is a reliable method for early stage of pregnancy.