Asian Journal of Biochemistry, Genetics and Molecular Biology

The advancement of modern molecular biology techniques has made it possible to detect fetal anomalies beforehand in order to tackle the upcoming situation. However, the idea is to devise the most sensitive screening tools with fewer chances of errors as well as noninvasive methods to diagnose fetal abnormalities. Previously used methods amniocentesis and chorionic villus sampling possess risks for the fetus on the other hand cell free fetal DNA (cffDNA) method is less invasive and reduces the risk to fetus. However, currently most cffDNA screening tests routinely evaluate fetal sex and sex chromosomal aneuploidies while in developed countries analysis of cffDNA is incorporated in high-risk pregnancies to detect the defects and mutations. In Pakistan where the prevalence of birth defect is reported approximately 7% as well as increased consanguineous marriages increase the chance of such defects. Centers in Pakistan offer cffDNA testing but with a hefty cost on the pocket. This review highlights the importance and prospects of exploring the maternal plasma Cell-free DNA (cfDNA) screening in high risk mothers in Pakistan as well as the limitations and strengths of the technique. Since the cffDNA sequencing is a major advancement in genomic medicine that has reduced the invasive procedures in clinical medicine.