Should you go for genetic testing at the time of pregnancy?

Genetic testing means examining your DNA i.e. your chemical database which has instructions to handle your body functions. Genetic testing showcases changes in your genes which is causing any disease. Though genetic testing can offer important details about diagnosing, treating and preventing disease, but it has its limitations. For instance, if a health person gets a positive result, it doesn’t generally mean that he will develop a disease. And, sometimes a negative result doesn’t guarantee that you will not get a particular illness

There are several types of genetic testing available for different purposes.

Diagnostic testing: If you have a disease symptom which may have occurred because of genetic alteration, then genetic testing can reveal the problem. You can use this test to confirm diagnosis of kidney problems, hemochromatosis etc.

• Presymptomatic and predictive testing: If you have a genetic problem in your family history, then going for genetic testing before the symptoms may show if you are at risk of developing that disease or not.
• Carrier testing: If you have a history of genetic disorders like cystic fibrosis or anemia, then genetic testing may prove whether you are at risk of developing the disease or not.
• Pharmacogenetics: If you are suffering from a particular disease, genetic testing may help you find out what medicine and dose is effective for you.
• Prenatal testing: If you are pregnant, there tests available to detect the abnormalities of your baby’s genes.
•  New-born screening: This is the most practiced genetic testing. The newborn babies are tested for gene abnormalities. This kind of genetic testing is done for hypothyroidism or phenylketonuria.
• Preimplantation testing: They are done when a woman tries to conceive a baby via IVF. Once the eggs and sperm is fused together and fertilization occurs outside the body, the embryo is screened to check for genetic abnormalities.

Genetic testing for embryos

PGD (Preimplantation genetic diagnosis) is done to find out genetic defects in the embryos. It helps to prevent specific genetic diseases from being passed on to the baby. The embryo used in genetic testing is created at the time of IVF.

·       Once the embryo is attained after fertilization, they are safely frozen.

·       The DNA is assessed to find out if the inheritance of the troublesome is present in the embryo or not.

·       Once the embryo is free from genetic problems, they are placed in the uterus.

Why is genetic testing for embryos done?

It helps couples who are at risk of passing genetic condition or illness to their babies. Some of the possible candidates to benefit from genetic testing for embryos are:

1.       Sex relate genetic disorders

2.       Single gene disorder

3.       Chromosomal disorders

4.       Women above the age of 35

5.       Women with recurrent pregnancy loss

6.       Women with failed fertility treatment

Genetic testing during pregnancy

Usually, babies are born healthy, but there is always a chance of something going wrong. The risk is higher for some couples depending on their age and medical history. One of the major genetic problem a baby can have is Down Syndrome. Women are usually advised to have genetic testing, but the decision is completely theirs. It is good to learn about it in the initial stage. You are likely to have a baby with genetic disorder when:

1.       you are above the of 37

2.       you and your partner have suffered from genetic problems

Screening tests

During the first trimester, blood test and ultrasound is done to check the chance of your baby having a Down syndrome or Trisomy 18. if your risk is high, then you may be suggested to go for CVS (Chronic Villus Sampling)

Maternal serum screening

It is a blood test done in the 15-20 week of conception. It shows if your baby has Down syndrome, neural tube problem, Trisomy 18 etc.

Hence, you should definitely go for genetic testing during pregnancy to avoid the risk of developing these diseases in your unborn baby.

How much does genetic testing cost in India?

As per the doctors, genetic testing done without counselling has led to great stress in patients. genetic testing is highly costly and it ranges from INR 12000 to INR 1.5 lakh and is not available at all the diagnostic labs. Hence, it is important to get in touch with a reputed doctor who can suggest you which genetic testing you should go for and the right place for it. The genetic testing cost in India also depends on the hospital, city, and the reason you are getting it done for.