Pre-Pregnancy Genetic Testing – Should You Consider It?

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 of such tests that may demand a little more attention than other tests is pre-pregnancy genetic testing. Well, do you actually need this test or can you actually do without it? Read this article to find out.

What Is Genetic Testing?

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

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 your tests results are 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:

  • 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 may 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, cause anaemia or may lead to 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 to get genetic testing done before pregnancy? You should, if you belong to the following ethnicities:

  • French Canadian – as these people have a risk of Tay-Sachs and cystic fibrosis.
  • African American – as people of African American descent are at a risk of getting thalassemia and sickle cell anaemia.
  • Eastern European Jews – These people have a risk of Tay-Sachs.
  • European Caucasian or Eastern European Jews – Who face an increased risk of cystic fibrosis.
  • If you are Southeast Asian – Who 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 with any kind of genetic disorder. However, your doctor may like to discuss all the possible options with you. You may go in for IVF procedure, which may help your doctor to determine whether or not the foetus may get affected because of the faulty genes, before it may be implanted in your uterus. The other option that you have is to get pregnant the natural way and get your baby screened once you are 10 to 12 weeks pregnant, to check for any genetic abnormalities. However, if any deformity may be found it may become difficult for the parents to take a call or terminating or going ahead with the pregnancy.

How Does Genetic Screening Work?

When bad genes are inherited from both the 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, too, unless your partner has a faulty gene too, in which case there is a likelihood that your baby may have some kind of genetic disorders.

If you are a carrier, your blood or saliva may be taken for the sample to detect what 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 and some of these pros and cons of genetic testing may include the following:


  • It may help the 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 under any kind of risk of having any genetic disorders.
  • If both of you carry the faulty genes, this means that only 25 percent chances that your baby may have 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 may be for everyone. You may have to consider some of the following aspects before you make this tough decision of undergoing the testing:

  • If your screen testing shows a positive result, then there are chances of passing the faulty genes to your baby. Hence, make an informed decision if you want to go ahead with the idea of pregnancy or not.
  • Think about how you will disclose the results to your family as it may lead to a lot of tension and worry.
  • You may become anxious about how you may handle the test results and what may be 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. The 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 a good idea for the prospective parents to undergo this testing to establish that they may bring a healthy baby into this world. If you are still jittery, you may seek the help of a genetic counsellor, too.

Also Read:  Pre-Pregnancy Check-Up & Tests

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