Pre-Pregnancy Genetic Testing – Should You Consider It?

If you are planning to get pregnant, then sometimes you and your partner may be asked to undergo certain medical tests before pregnancy (and sometimes even after pregnancy). Although these tests may seem too overwhelming for you, these tests will ensure that everything will be fine with your baby. One test that may demand a little more attention than other tests is pre-pregnancy genetic testing. Well, do you need this test, or can you do without it? Read this article to find out!

What Is Genetic Testing?

Genetic testing involves a blood test of prospective parents when they are planning to get pregnant or are already pregnant. It is done to check for any faulty or abnormal genes that may be passed on to the baby and lead to genetic disorders. In most cases of genetic disorders, the baby is affected if both the parents pass on faulty genes to the baby. This means, in case you test positive and your partner tests negative, your baby may not be affected by any genetic disorder. If both of you test positive, then also the possibility of your baby getting affected with any genetic ailments may only be 25%.

Types of Genetic Screening

You may have to undergo the following types of genetic screening:

  • You may be screened to check for any kind of gene mutation, also known as genotyping.
  • If you test positive, your partner may be required to undergo sequencing (which may involve more comprehensive and elaborate testing).

A couple at doctor's

What Are the Common Genetic Diseases?

Some of the genetic disorders that may result from abnormal gene mutation are as follows:

  • Alpha Thalassemia is a common genetic disease; this condition may lead to bone abnormalities, liver problems, and anaemia in a baby. In some cases, a baby with this disorder may not even survive.
  • Cystic fibrosis is a genetic disorder that may cause severe lung damage and even lead to complications of the digestive system in a baby.
  • Sickle cell disease is a severe blood disorder that may cause damage to the immune system, anaemia or lead other serious health complications in a baby.
  • Fragile X syndrome is a genetic disease that may cause developmental delays in a baby, which may lead to mental retardation or learning disabilities.

Who Should Get Genetic Testing Before Pregnancy?

Are you thinking of getting genetic testing done before pregnancy? You should, if you belong to the following ethnicities:

  • French Canadian – As they have a risk of Tay-Sachs and cystic fibrosis.
  • African American – As they are at risk of getting thalassemia and sickle cell anaemia.
  • Eastern European Jews – They have a risk of Tay-Sachs.
  • European Caucasian or Eastern European Jews – They face an increased risk of cystic fibrosis.
  • Southeast Asian – They may also get thalassemia.

People with certain family histories, ethnicity or genetic backgrounds are at a higher risk than others. If you fall into the category of any of the above-mentioned ethnicity, you may need to go in for genetic testing.

What to Do If Both You and Your Partner Are the Carriers?

As discussed in the previous section, even if both the prospective parents are tested positive, there is only one in four chances that the baby may be affected by any kind of genetic disorder. However, your doctor may like to discuss all the possible options with you. You may go in for an IVF procedure, which may help your doctor determine whether or not the foetus may get affected because of the faulty genes before it is implanted in your uterus. The other option that you have is to get pregnant the natural way and get your baby screened for any genetic abnormalities once you are 10 to 12 weeks pregnant. However, if any deformity may be found, it may become difficult for the parents to take a call to terminate or go ahead with the pregnancy. 

How Does Genetic Screening Work?

When bad genes are inherited from both parents, it may cause genetic deformities. However, if you have a faulty gene, then you may not have any problem, but you may be the carrier of the faulty gene. This won’t be a problem for your baby unless your partner has a faulty gene, too. In this case, there is a likelihood that your baby may have some kind of genetic disorder.

If you are a carrier, your blood or saliva samples may be taken to detect the possible diseases you may pass on to your baby. Nowadays, genetic screenings may be able to detect as many as 400 genetic disorders.

What Are the Pros and Cons of Preconception Genetic Testing?

Genetic testing may offer both pros and cons for you. Some of these are:


  • It may help prospective parents in making the decision well in time.
  • Sometimes the prospective parents may not be aware that they may be the carriers of a genetic disease, and the test results may help them know about the same.


  • It may be disheartening for the parents to find out that their baby may have some kind of genetic deformity.
  • It may require the couple to make a tough decision of keeping or terminating the pregnancy.

What to Expect From the Pre-Pregnancy Genetic Carrier Test Results?

You may expect the following results:

  • Neither you nor your partner may be the carrier of the disease.
  • If one of you is the carrier, then this does not put your baby at any kind of risk of having any genetic disorders.
  • If both of you carry faulty genes, there are only 25% chances of your baby having any kind of genetic disorder.

Things to Consider Before Making Any Decision Based on the Test Results

Genetic testing may give you immense information about you and your partner’s health condition. But this certainly does not mean that genetic testing is for everyone. You may have to consider some of the following aspects before you make the tough decision of undergoing genetic testing:

  • If your screen testing shows a positive result, there are chances of passing the faulty genes to your baby. Hence, make an informed decision if you want to go ahead with the pregnancy.
  • Think about how you will disclose the results to your family as it may lead to a lot of worries.
  • You may become anxious about handling the test results and charting your further course of action.

What Is the Cost of Genetic Testing Before Pregnancy in India?

In India, genetic testing for parents before pregnancy, which includes Next Generation Screening (NGS) and Non-Invasive Prenatal Screening (NIPT), may cost around Rupees 40,000-50,000 and 25,000-30,000, respectively. Genetic testing before pregnancy for Down syndrome and genetic testing for autism can also be performed. You may talk to your doctor about the procedures in detail.

We know that anything like genetic testing can get pretty intimidating for you and your partner. However, sometimes it may be a good idea for the prospective parents to undergo this testing to establish if they can bring a healthy baby into this world. If you are still jittery, you may also seek a genetic counsellor’s help.

Also Read:  Pre-Pregnancy Check-Up & Tests

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