Many families carry some defective genes that can give rise to known genetic disorders. Some of these are incompatible with healthy life if inherited from one or both parents. These are called Single Gene Disorders. Here, a single known gene is responsible for the continued disorder in the offspring of a family line.
Many couples with carrier genes of diseases like Thalassemia, Muscular Dystrophy, Polycystic kidneys, and metabolic disorders like Methylmalonic acidemia, carriers of the BRCA gene implicated in breast cancer, etc are now approaching us to help conceive healthy offspring.
[Preimplantation genetic testing for monogenic disorders, or] PGT-M gives an option to these couples to check their embryos before implantation and avoid the trauma of termination of pregnancy. The concerns over abnormal offspring after IVF stems mainly from the advanced age of women opting for IVF as a population group and not due to the actual process of IVF. Genetic testing would reduce the chances of Genetic abnormalities in offspring when judiciously offered.
Overall, Genetic testing has opened up a new arena of scientific information and assessment of human embryos helping people to prevent genetic disorders, congenital defects, and recurrent miscarriage!
