KOCHI: Rare genetic diseases can shatter families, as demonstrated recently by the crowdfunding appeals to meet the exorbitant cost of medicine for the treatment of children affected by spinal muscular atrophy (SMA). According to doctors, with improved medical technology, genetic disorders can be treated. Lifeline Hospital, Adoor, offers In Vitro Fertilisation with Pre-Implantation Genetic Diagnosis (PGD).
“The birth of an affected child can be prevented by prenatal diagnosis and PGD. Prenatal diagnosis is possible by Chorionic Villus Sampling/Amniocentesis followed by continuation/termination of pregnancy. Preimplantation genetic diagnosis is a clinically feasible technology to prevent the transmission of monogenic inherited disorders in families afflicted by the diseases to the future offspring,” said Dr Mathews John, medical director and general and laparoscopic surgeon at the hospital.
“Individuals who are blood relatives are more likely to be silent carriers for the same recessive conditions, hence the risk of autosomal recessive genetic disorders is higher in children born from consanguineous parents,” Dr Sreelatha Nair, consultant Geneticist and Head, Department of Genetics at the hospital.
The genetic department of the Lifeline Hospital, Advance Fertility and Gynaecology Centre, is one of the very few centres in India to provide Pre-Implantation Genetic Screening to needed couples. “PGD would provide new reproductive options for families at risk for SMA and other similarly inherited autosomal recessive disorders,” Dr Cyriac Pappachan, director and infertility specialist and laparoscopic surgeon, Lifeline Hospital.