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Genetic Testing During Pregnancy: What You Should Know


If you’ve just found out you’re pregnant it’s time to celebrate and prepare for the future of your new child. Whether this is your first baby or you already have children, there are a ton of decisions to be made in the upcoming months.

The health of your baby is one of the most important considerations to have at this early stage of pregnancy. Fortunately, science has come a long way in helping moms and dads determine what health risks their little ones might have through genetic testing during pregnancy.

What is Genetic Testing During Pregnancy?

Genetic testing during pregnancy involves different types of screening procedures to look for potential health problems as a child develops in the womb. Various tests can be performed during each trimester. These tests screen deoxyribonucleic acid (DNA) for mutations that can be passed along to the fetus. DNA is essentially the set of instructions each parent provides for their offspring. When there is a mutation or mistake in the DNA, this can lead to lifelong illness or developmental disorders.

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What is the Goal of Genetic Testing During Pregnancy?

Genetic testing during pregnancy helps parents achieve two goals. First, it gives parents an insight into the health of their new baby. This knowledge can be reassuring when the testing comes out negative. Second, when the testing is positive for a disorder, it allows the parents to better plan for the future of their family.

Which Genetic Tests Are Available?

Different types of genetic tests include non-invasive prenatal screening (NIPS) also called non-invasive prenatal testing (NIPT), serum screening and diagnostic testing. Some parents elect to get one of these tests, some decide to get all three, and still, others might opt for none of these tests at all.

  • NIPT can be performed as early as nine weeks of gestation. It involves taking a blood draw from the mother’s arm and does not pose a risk of miscarriage. NIPT can focus on a few disorders, such as Down’s Syndrome, or screen for hundreds. 
  • Serum screening can be performed as early as ten weeks of gestation. Like NIPT, this test can detect Down’s Syndrome and Edward’s Syndrome. If testing is done at fifteen weeks gestation, then it might detect conditions like spina bifida. It is also done with a blood draw from the mother’s arm. 
  • Diagnostic testing can be done as early as ten weeks. There are two types of genetic testing – amniocentesis and chorionic villus sampling (CVS). Diagnostic testing is more invasive, but it can provide greater certainty if a genetic disorder exists.

Is Genetic Testing During Pregnancy Right for You?

There is a lot to consider when deciding if genetic testing during pregnancy is right for you. You and your partner’s health history might be the biggest factor. Even if you do not have a diagnosed genetic disease, there is a possibility of being a carrier. When both parents are carriers for a genetic disorder, they may not show evidence of the disease, but can pass it along to their children. Carrier testing can be done to determine if there is a risk of giving your child an inherited disorder.

Family health history is another factor that should be thought about when deciding if genetic testing during pregnancy might be a good idea. Some genetic diseases are not directly inherited and might skip a generation. 

Either way, it is important to consult with a doctor before making any final decisions as to whether or not to have genetic testing during pregnancy. Your doctor will look at the risks to your baby’s health and help you determine which type of testing will be the most useful. 

Making the Best Choice for Your Family

When you find out you’re going to have a baby, there is much to do and plan for. Along with choosing a name and picking out cute clothes, considering genetic testing is also important. Genetic testing gives you the opportunity to learn more about your child’s health. If there is a positive result from testing, you will be better equipped to plan for the future.