Timely counselling can help detect genetic disorders before birth

Health Care, Heart Care Foundation of India, Medicine Comments Off

Pre-nuptial genetic screening should be made mandatory

New Delhi, 5th November 2018: A person who marries a total stranger with no relation to their community has a 1% risk of babies being born with a genetic disorder. However, marrying within one’s own community, inside the same genetic pool, can increase the risk by 6% to 7%, indicate statistics. Given that there is low level of awareness about this, particularly in the rural belt of India, it becomes imperative to educate people on genetic health. Early genetic counselling can help identify and tackle various genetic disorders at an early stage.

Endogamy and consanguineous marriage practices are still prevalent in India and increase the risk of children born with genetic disorders. Genetic screening and counselling can help people make informed decisions, be it a pregnant mother or soon-to-be married partners.

Speaking about this, Padma Shri Awardee, Dr KK Aggarwal, President, HCFI, said, “Hundreds of children are born with birth defects every day in India, which lead to disability and death. Genetic disorders are a very serious health issue in our country. There is an urgent need to work towards making available informed choices to parents to reduce the number of children being born with disability. A genetic testing is a must in cases where: either partner has a hereditary disorder, there is a history of genetic disorder in the family, a history of multiple pregnancy losses, or there are congenital anomalies detected in children. Just like the matching of horoscopes before marriage, it is time that pre-nuptial genetic screening or testing and counselling is also made mandatory. This will help avert many issues later during pregnancy and childbirth.”

In genetic counselling, unlike psychological counselling, parents and their families are informed about inheritance pattern and the risk of their recurrence. It guides the parents through testing and management options.

Adding further, Dr Aggarwal, who is also the Group Editor-in-Chief of IJCP, said, “Prenatal Genetic Testing, which is primarily non-invasive, helps in identifying three types of trisomies: Trisomy 21 is the anomaly behind Down’s Syndrome; Trisomy 13, which leads to Patau Syndrome; and Trisomy 18, which causes Edward Syndrome. With the alarming number of children being born with genetic abnormalities, it is about time that India embraces NGS routine genetic testing. It is a comprehensive test and can detect all types of genetic mutations and is accurate, fast and cost-effective at the same time.”

Some tips from HCFI

  • Be aware of the products you use in your home and on your skin.  For example, cleaning products with harsh chemicals.
  • Eat healthy and include lots of fresh fruits and vegetables in your diet. They contain fibre and substances that can help in flushing toxins out of your system.
  • Take steps to combat stress as this lowers your immune system function.  Exercise, sleep well, and meditate. You can also opt for yoga to get rid of stress.
  • Sleep well as it reduces cortisol produced by the body during stress.  It also balances leptin, which determines how much food we eat.  If our leptin is off balance, most likely the body will feel that it never gets enough food, which leads to overeating.