A man and a woman, siblings from Hyderabad, were diagnosed with a rare form of congenital blindness due to genetic abnormalities over two decades ago. Now, the woman being pregnant, is worried about passing the condition to her unborn baby.
“We tested the woman and her brother to identify the genetic abnormality. We then tested the foetal sample only to find that the unborn baby does not carry the abnormality,” said Sujatha Madireddi, a geneticist at the Osmania University’s Institute of Genetics.
“Genetic testing put the family’s mind to ease, but more importantly helped them make an informed decision about continuing pregnancy,” Dr. Madireddi added.
Genetic testing is a way for families to prevent genetic abnormalities from perpetuating, but the proportion of the general population that avails it is very small, clinicians and people working to creating awareness about screening, rue.
“After my daughter was born with thalassemia, I advised members of my family to get tested. They rubbished my suggestion saying what happened need not happen to them. When a marriage occurred within the family, a child with thalassemia was born to the people I had warned,” said Kiran Karamchedu, who is associated with Telangana Thalassemia Society. Thalassemia is said to be the most common genetic disorder affecting Indians but pre-marital or pre-natal testing for it is not the norm. While Mr. Karamchedu recommends mandating testing, at least for conditions like thalassemia with marriage certification, doctors say awareness creation should start from within the medical fraternity.
“Making general public aware about genetic abnormalities is important, but it is more important to make doctors, mainly gynaecologists, aware about genetic disorders and testing, to identify affected foetuses and medically terminate them if required,” said Pragnya Ranganath, Head, Department of Medical Genetics at Nizam’s Institute of Medical Sciences.
