We see a growing number of children being born with genetic disorders these days. According to World Health Organization (WHO), Genetic disorders affect 10 in every 1000 newborn babies.
Here we have all the news and updates about genetic disorders:
1. What are genetic disorders? Genetic Disorders are disorders caused due to some change in genes (in medical terms it’s called a mutation). Common examples of genetic disorders are Thalassemia, Cystic Fibrosis, Fragile X Syndrome, Spinal Muscular Dystrophy, Duchene Muscular Dystrophy, and Huntington disease. Generally, parents who are carriers of genetic diseases realize it only after having a baby who is diagnosed as affected with the genetic disease. Genetic diseases cannot be cured but can be prevented.
2. A common myth- I am a healthy person; I don’t need to worry about passing on Genetic Disorders”. This is a WRONG myth. You may be a healthy person but still be a carrier of a genetic disorder. We all inherit two copies of every gene (one copy each from both parents). You may be a healthy person, but still be a carrier without knowing. Therefore, Carrier screening is important before planning the family. Carrier Genetic Test (CGT) developed by Igenomix is an advanced genetic screening test which can be taken by the couples before planning for parenthood. The test reveals whether a couple is at risk of having a baby affected with a genetic disorder or not.
3. Some people need to take special care about it! Consider factors such as- Is anyone in your family suffering from genetic disorder- including maternal/paternal grandparents, yours and your parent’s siblings or even cousins or any recent birth in your family with a genetic disorder. However, only family history is not sufficient. Most carriers have no family history, so it is not valid to determine whether or not the person is a carrier of mutations that can be transferred to their offspring by just family history.
4. Genetic disorders are rare but don’t leave it to chance. The prevalence of carriers for some of these diseases is quite common in the population. In fact, one in 25 people are carriers of Cystic Fibrosis, and one in 50 for Spinal Muscular Atrophy.
5. In cases where both the partners are carriers of a mutation in the same gene, then the risk of having an affected child is as high as 25%. And 50% chances you pass on that same mutation to your child silently which may put their future generations at risk. It is therefore important you to consult your specialist about the risk of genetic disorders before you conceive and not leave it to chance.
6. If both partners are the carriers of the same genetic mutation, they can still conceive a healthy baby through Preimplantation Genetic Diagnosis (PGD). They should consult with their specialist and take advice on how they should go about planning their pregnancy.
With Inputs From Dr. Rajni Khajuria, Lab Director, Igenomix