Authors: Qamre Alam , Mohamed Ali Ateyah , Mohamed Hani Ali , Kadhem Alkhenaizi

Abstract

Genetic disorders remain among the greatest challenges in modern medicine, with over 95% lacking curative therapies. Preimplantation Genetic Testing (PGT) has emerged as a transformative preventive tool, enabling the detection of chromosomal abnormalities (PGT-A) and single-gene disorders (PGT-M) in embryos prior to implantation. At ExpressMed Diagnostics and Research, Bahrain, nearly 700 PGT-A and 25 PGT-M cases have been performed, with a significant impact on reducing miscarriage risk and preventing sickle cell disease transmission. Our data highlight the critical influence of maternal age, with aneuploidy rates rising from ~60% in women under 30 to ~90% in women over 40. In the Gulf region, where consanguinity and genetic disorders are highly prevalent, PGT offers a powerful public health strategy to reduce inherited disease burden, complementing newborn screening and premarital testing. As genomic technologies advance, ensuring accessibility, affordability, and ethical oversight will be essential. PGT represents not only a scientific breakthrough but also a shift in reproductive medicine from treatment to prevention, with profound implications for future generations.

Keywords: PGT-A, PGT-M, Reproductive Gentics, NGS, Precision Medicine