Genetic Testing During Pregnancy – What Is It And What Is Its Significance?

As a parent, you always want to ensure that your baby is in the best of health. While your doctor will put you through various tests, before and during pregnancy, one test that is extremely critical is genetic testing.


Abnormality in genes can be hereditary or caused due to certain conditions. Usually, genetic testing is recommended at the time when you are planning to have a baby in the immediate future.

What Is Genetic Testing?

Genetic testing is a type of blood test. It is carried out to find the presence of abnormal genes in both you and your partner, which can lead to certain health conditions or diseases in your infant.

Genetic Testing for Detecting Genetic Diseases:

Most of the genetic diseases are termed as recessive disorders. This means that together you and your partner may pass an abnormal gene to your baby.

If the test shows that either you or your partner has genetic abnormality, but the test of the other parent is

negative, then the genetic abnormality will not pass to the child.

However, if both you and your partner test positive, your child is at 25 percent risk of getting the disease.

Time for Genetic Testing:

Genetic testing is carried out both before and during your pregnancy, to confirm the reports:

  1. It involves a single blood test. The reports are delivered within two weeks. Usually the mother, will be tested. If your test is negative, your partner is not required to go for testing.
  2. In case you, the mother, test positive, then the doctor will insist your partner to go with the testing. This will help to investigate the chances of your infant getting genetic disease.
  3. Your doctor will most likely recommend genetic testing at the time when you are trying for the baby. The best time for you to check this with your doctor is to talk to them before your plan to conceive.
  4. However, in case the pregnancy is unplanned, the screening is carried out in the early months of pregnancy.

Significance of Screening Before Pregnancy:

You should ideally try to be screened before

conceiving. This will give you a complete idea about what to expect even before the pregnancy is confirmed.

  1. If both you and your partner are carriers of genetic abnormality, you can think and plan accordingly, such as how to take up the situation if the infant has certain genetic condition.
  2. Pre pregnancy genetic testing gives you the opportunity to take certain special prenatal tests to find out about the health of your infant or think about donating the sperm, egg or adoption.
Genetic Testing During Pregnancy:

In case your pregnancy is unplanned or due to some reasons, you fail to do the genetic testing before conceiving, it is highly important that you do so immediately upon discovering the pregnancy status.

  1. The doctors usually recommend prenatal tests during pregnancy to find out traits of genetic abnormality in your blood.
  2. In case both you and your partner test positive, the doctor will further conduct tests. This will help to find out the extent of risk for your infant of having recessive disorders such as sickle cell disease or cystic fibrosis.
  3. The doctor may conduct specialized tests such as
    amniocentesis or CVS-Chorionic villi sampling.

Ethnic Background and Genetic Abnormality:

Studies have revealed that there is a deep connection between your family history, ethnic background and genetic abnormality. [2]

If you belong to a particular ethnic group, chances are that you might be a carrier of a particular genetic recessive disorder.

Some such groups that are more likely to contain genes of particular genetic disease include:

  • Eastern European Jews and European Caucasians are at increased risk of suffering from Cystic fibrosis.
  • Eastern European Jews are at risk of facing conditions such as familial dysautonomia, Canavan and Tay-Sachs
  • People belonging to the Mediterranean or African American descent such as Italians, Greeks and Turks face the risk of health conditions such as thalassemia and sickle cell anaemia. Even Southeast Asian people are at the risk of suffering from thalassaemia.
  • French Canadians are more prone to suffer from cystic fibrosis and Tay-Sachs.


  • With the advancement in medical sciences, you can always expect better solutions for problems related to genetic diseases and pregnancy.
  • These genetic
    tests will help you the take right decision and precautions and guide you properly to have a healthy baby.
  • While pregnancy is a time of joy, certain aspects can tend to make you feel anxious and extremely depressed. Remember that every time you are stressed out, it directly affects your baby.
  • Talk to your doctor about any concerns you may have, and believe in the power of modern treatment.

We wish you a healthy and happy pregnancy and a wonderful parenting experience!