Molecular detection of CFFDNA for early laboratory diagnosis of X linked disorders carriers

Enhancement of DNA detection assays increase the use of non-invasive prenatal diagnosis that is consequently enhances the supervision plan of pregnant woman with genetic disorder expected babies. Aim of work: Current work was planed to examine plasma of pregnant women starting from 6th week pregnancy for Cell-free fetal DNA, to determine embryonic sex type with consequent prospect of detection of fetal anomalies such as aneuploidies. Method: Samples collected from 6th week till 11th week of pregnancy according to pregnancy age and tested using Real time PCR for determination of fetal sex. Results: Testing of samples resulted in detection of fetal sex starting from 6th week and the later the gestational age the better the result for detection of fetal sex, all results were confirmed by Ultrasound scan and neonatal outcome. Testing results revealed PCR detection for 58 males and 92 females with confusion in one fetus due to non identical twins.