A private hospital in Bengaluru has helped a couple who lost their first child to Sandhoff disease, a rare genetic disorder, deliver a healthy child without the disorder, with the help of pre-implantation genetic diagnosis.
Sandhoff disease is a rare inherited disorder that progressively destroys nerve cells in the brain and spinal cord.
The couple from Bengaluru, who lost their first child at the age of five, were advised to undergo pre-implantation genetic diagnosis to identify a healthy embryo which did not carry a risk.
“The father was a carrier for the disease,” said Bina Vasan, Director & Head, Reproductive Medicine, Manipal Fertility Centre, which conducted the procedure.
“We requested the parents to undergo in vitro fertilisation and conducted pre-implantation genetic diagnosis (PGD) on the embryos to identify one which did not have the gene,” she said. A single cell from the embryo was sent to the genetics testing laboratory at Manipal where it was cultured and amplified, post which analysis was done. The whole process took around two to three months to identify a healthy embryo.
Testing pre-implantation embryos is difficult as you get very little DNA usually in picograms (one cell yields 6 picograms of DNA), said Vijay Chandru, Director, Centre for Health Ecologies and Technology.
“To be able to claim that you have a stable technique requires a lot of validation. It is a tricky problem as you may not get adequate DNA and do proper sequencing you usually need a minimum of 10-20 nanograms of DNA,” he added.
