Having treated and counseled over 6000 families since our inception, we have a fairly fool-proof procedure we follow to make sure all your concerns are addressed and the best management options are available to you. The process is typically as shown here :

Generally, your doctor will tell you whether you have, or are, at risk of having any genetic disease. Anyone with the following is likely to have a genetic disease, among other common observations.

• Unexpected growth and development
• Mental retardation
• Physical growth retardation or ambiguous genital development
• Muscle weakness
• Underdevelopment of sexual characters, etc.  

Girls above the age of 15 years having no menstruation, or boys above 14 years having no sexual development are likely to have an underlying genetic problem.

Couples with

• Infertility
• Repeated miscarriages, foetal losses or deaths of their children
• Marriage in blood relations (consanguinity)
• Children with mental retardation or development delay
• A family history of genetic disease

are at risk of having a genetic problem and need to consult a genetic counselor and medical geneticist at the earliest.

Family history is critical information when trying to understand if you are at high risk of developing or transmitting a genetic disease to your subsequent generation. A genetic counsellor can study and explain these risks to you. For most accurate results, you are required to provide all necessary details of your family, including the information of members in the family up to three generations.

A genetic counsellor can explain which tests are necessary for you, what the possible results of the tests are, and how useful these reports will be for you. Based on this information, you can make an informed decision.

Some common genetic diseases seen in India (representative of the global prevalence) are :

• Down syndrome
• Turner syndrome
• Klinefelter’s syndrome

These are caused by an abnormal number of chromosomes in cells of the body.
Thalassemia, Sickle cell anaemia, various myopathies, skeletal dysplasia, etc. are commonly seen genetic diseases caused by single gene defects.
For more public information on genetic disorders, refer here.

Yes, we can prevent the birth of the babies with genetic diseases by offering prenatal diagnosis to the pregnant couples who are at risk. We can diagnose whether the baby in the mother’s womb has a genetic disease (for which the parents are known to be at risk), and if the baby is found to be affected, pregnancy can be terminated as per medical and legal guidelines.
For more information on guidelines, refer here for details on the PC-PNDT act (Government of India).

Non-Invasive Prenatal Testing, also sometimes called Non-Invasive Prenatal Screening (NIPS), is a test done during pregnancy. The test analyses small fragments of fetal DNA which are circulating in the pregnant mothers’ blood to find out if the fetus is at risk of certain genetic abnormalities such as extra or missing chromosomes 21, 13, 18 and/ or sex chromosomes. The test can also be used to look for microdeletions and abnormalities of other chromosomes.