KOCHI: In a significant development, a couple, both carriers of Tay-Sachs disease, an autosomal recessive single genetic disorder, have been able to give birth to a baby free of the genetic disorder. Tay-Sachs is a rare single genetic disorder that causes a progressive deterioration of nerve cells and of mental and physical abilities that begins at around seven months of age and usually results in the death of the child by the age of four.
“Gireesh and Sajini had Tay-Sachs affected babies thrice and lost them by the age of four. We conducted Pre-implantation Genetic Diagnosis (PGD) and Pre-implantation Genetic Screening in Argenomics that allowed for the screening of embryos to identify abnormalities in the chromosomes. Of the many embryos obtained after IVF, we selected the embryo that was healthy and disease-free from Tay-sachs mutation as that of the parents. The mother delivered a healthy baby free of genetic disorders in May 2016,” said Dr Ritu Nair, head, Argenomics of a leading IVF hospital in Kodungalloor.
It is quite difficult for couples carrying full or part of these abnormal killer genes to have a healthy child. Sometimes they have to wait for several attempts to get a healthy child. “Till recently the only technique to test genetic disorders was through invasive procedures when a pregnancy had advanced to 12 to 16 weeks. But today couples have the option to select a healthy embryo prior to pregnancy,” she said.
