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Almost as soon as you find out you’re pregnant, you will be faced with a lot of decision-making. You’ll be making decisions about what type of prenatal vitamin to get, what type of pregnancy care provider you will choose, which practice you would like to enroll in — and that’s just for your own care. You’ll also be faced with questions about your baby, including if you should get genetic testing. Here’s what you need to know about when genetic testing might be the right choice for you and your baby.
What is genetic testing?
Genetic testing will screen your blood to look for chromosomal abnormalities in your baby that can indicate a genetic disorder. Genetic testing is done as a simple blood test, no different than the standard blood draw that you receive as part of your prenatal testing. Most genetic testing can be done as early as between week 10 and 15 of your pregnancy, so you will be informed of any potential conditions before your anatomy ultrasound at or around 20 weeks.
According to the American College of Obstetricians and Gynecologists (ACOG), genetic testing can screen for hundreds of genetic conditions including more commonly known disorders such as:
- Down syndrome
- Cystic fibrosis
- Aneuploidy
- Trisomy 18
- Trisomy 13
However, while genetic testing can help you and your doctor determine if there is a risk for a certain disorder, genetic testing is not considered to be a definitive diagnosis. Any condition that the blood test indicates will have to be confirmed with amniocentesis or with further testing after your baby is born.
Who should get genetic testing?
It’s not medically indicated for all pregnant women to receive genetic testing. Some of the most common circumstances for choosing to have genetic testing done include:
- If you are over the age of 35
- If you have already given birth to a child who was born with a genetic condition
- If you or a close family member have a genetic disorder
- If your doctor or pregnancy care provider recommends testing, based on ultrasound findings
However, all pregnant women do have the right to get genetic testing done if they would like to, so your pregnancy care provider can and should provide you with information about testing during your first prenatal visit. It is ultimately up to you to decide to have the testing done. Some women will elect to have genetic testing done for their own reasons, even if their doctor doesn’t consider them to be at high risk for genetic disorders.
Before deciding to have genetic testing done, you may also want to check with your insurance provider to make sure that the testing will be covered under your insurance. Some insurance companies will cover genetic testing for all pregnant women, while others may have more restrictions, such as only covering the test if a doctor prescribes the genetic testing. Others may not cover it all. If cost is a determining factor for you, you will want to make sure you know the full cost before having the testing done.
What happens after you get genetic testing?
After you get the blood test for the genetic testing done, it may be a few weeks before you get the results of the test. Your doctor may choose to have the results delivered directly to you (many companies offer you results that you can view online, for example) or they may discuss the results with you in the doctor’s office, depending on the situation.
If your genetic testing does show any results that indicate a chromosomal or genetic condition, your doctor may also offer you additional testing to confirm the result. For instance, your doctor may discuss the possibility of an amniocentesis with you to confirm the blood test results. An amniocentesis may be necessary to confirm the result, because unlike the blood test, an amniocentesis actually tests the baby’s DNA. An amniocentesis does carry risks, however, so your doctor will help guide you if you will require additional testing.
