Prevent Fatal Diseases – Genetic Carrier Screening Tests

In the recent days we are often listening among our nearest or dearest about the children requiring blood transfusions. Have you ever thought of why such blood transfusions are required?? Which disease are they suffering from??

Genetic Disorders:

They are suffering from a genetic disorder called Thalassemia. The children with thalassemia will suffer anaemia because of less haemoglobin resulting in fatigue, pain and several other complications.

There are many such genetic disorders prevalent and rising among our Indian new born and infants. The most prevalent other genetic diseases are breathing and digestion disorder (cystic fibrosis), stammering, mental disability and congenital abnormalities (Down’s syndrome), severe weakness and lack of muscle development (spinal muscular atrophy). Let’s discuss and learn why such diseases occur and what can be done to be more aware of this kind of scenarios.

Genetic Carrier:

Human has two copies of each gene, inherited from biological parents. For genetic disorder to be present there must be an inheritance of two copies genes. Any person, who has only one gene for a disorder, is considered, a “carrier”. The genetic carriers will not be suffering from disease nor have any symptoms of genetic disease.

India is a home land for many cultural and ethnic groups. The population of India is diverse based on their region, religion, linguistic and socio-economic backgrounds. The fixed marriage patterns among their nearby region, marriages between the closely linked relatives with in the community pose a risk of being a carrier partner.

How to know whether one is a carrier or not??

dna figure Generally, the married couple who are planning for a pregnancy should undergo a “Carrier screening test”. This is done from the blood/saliva sample of the individual. Your gynaecologist can order for this test. The results can be delivered in a couple of days.

This screening test can be done at different life stages and its implications have advantages as well as disadvantages at each particular stage.

  1. School screening: Carrier screening performed at premarital or pre-relationship stage.
  2. Pre-conception screening: Carrier screening performed before the couple decides to conceive. This is the ideal time for carrier screening.
  3. Pregnant mother screening: Every pregnant woman should get done the carrier screening test at this stage.

Chances of having a baby with genetic disorder:

If the pregnant mother found to be positive genetic carrier then her partner should also be tested. If both the partners were found to be carriers, they will have a 25% chance of having an unaffected child, 50% chance of having an unaffected child who is also a carrier, and a 25% chance of having a child with genetic disorder.

It is highly recommended for the couples that if they have doubt about their genetic carrier status such as any previous delivery of baby with genetic disorder, family history of any genetic disease, It’s better to undergo genetic carrier tests at a better early time point to prevent genetic disorders. This will give the couple a chance to understand and take necessary preventive steps.

If one of the partners were found to be a carrier, they can have the pregnancy and the mother can undergo prenatal screening tests before delivery. If both the partners were found as carriers, they can discuss the other ways of having the child like IVF etc.,

All the couples should seek counselling from the obstetrician or genetic counsellor before pregnancy so that a couple could learn about the risk of having a genetically defective baby.

Keep following for much more information of health and genetic updates.


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