For many parents, pregnancy is the very beginning of the journey of caring for your child. Prenatal genetic testing is one of the first opportunities to learn about your baby’s health and make decisions that help you feel confident and prepared for the months ahead. This is especially important since doctors can start treating some of these conditions during pregnancy, thanks to breakthroughs in research over the years.

Prenatal genetic counselor Hannah Elfman, MS, CGC, shares the most common genetic tests you can opt into during your pregnancy, what those tests mean and why they are important. 

What is prenatal genetic testing?

Genetic testing during pregnancy most commonly requires a simple blood draw that offers insight into your baby’s development, including screening for possible genetic conditions such as Down syndrome. Genetic tests also can screen parents to check whether they carry a gene change linked to an inherited condition, such as cystic fibrosis, that could be passed on to the baby. These two common tests (NIPT and carrier screening) are routine and optional, and they’re designed to give you helpful information so you can feel more prepared and supported throughout your pregnancy.

Where can I get prenatal genetic testing?

Your OB-GYN doctor should talk with you about prenatal genetic testing options at your routine appointments. You can ask them questions about these options before you even become pregnant. In fact, carrier screening results are actually more helpful prior to becoming pregnant. After talking with your doctor, you can get this bloodwork done at your local lab and your doctor will review the results with you.

Noninvasive Prenatal Testing (NIPT) FAQ

The NIPT blood draw tests your placental DNA, which is usually the same as your baby’s DNA, while you are pregnant. 

What is the NIPT test?

The NIPT test stands for noninvasive prenatal testing, and it’s a simple blood draw during pregnancy (offered after 9 weeks’ gestation). The test analyzes tiny fragments of your placental DNA to asses whether your baby is at high risk or low risk for certain genetic conditions, such as Down syndrome.

What happens if my NIPT shows my baby is at risk for a condition?

If your NIPT test comes back with positive results for a condition, it means there is an increased risk your baby could have that condition. This is a screening test — not a diagnostic test. The results will also offer a percentage chance your baby could have that condition. Your next step will be a referral to genetic counseling where you can explore the next step of diagnostic testing, such as testing the amniotic fluid, to confirm whether your child has the condition or not. Your counselor can walk with you through this journey to provide specialized information and help you prepare accordingly for birth.

Me and my partner are healthy without any genetic conditions. Why would we need to do an NIPT test?

Unlike the carrier screening that relies on the parents' genetics to determine whether you might pass down a condition, the NIPT test scans for conditions that can happen spontaneously in any pregnancy. These conditions are caused by chromosomal abnormalities. Even if you and your partner are healthy, your child could still have a chromosome abnormality.

Carrier Screening FAQ

The carrier screening blood draw tests your own DNA.

What is a carrier screening?

A carrier screening is a blood test that screens parents for early-onset genetic conditions they might pass on to their baby. You could pass on a genetic condition to your child even if you don’t have one yourself.

The main conditions this screening will look for are cystic fibrosis (CF) and spinal muscular atrophy (SMA). If your screening tests come back positive as a carrier for any condition, your partner will need to complete the carrier screening as well. If both parents are positive as a carrier for the same condition, there is a 25% chance your child could have that condition.

Why is carrier screening important when planning a family?

Understanding whether your child is at risk for an inherited genetic condition is very helpful, especially since there are treatment options that can help your child at birth or even during pregnancy thanks to medical advancements. That’s why Elfman recommends families consider this test as part of a preconception appointment and complete it before becoming pregnant. It can help with pregnancy planning and making sure your baby gets the right care and medical support from the start.

What if I got a carrier screening, but my partner isn’t able to complete the screening?

That is OK. If your partner is unavailable to complete the carrier screening for any reason, don’t worry. If you are positive as a carrier for a condition based on your screening alone, your OB-GYN can refer you to see a genetic counselor, like the ones we have at the Colorado Fetal Care Center. They can walk you through scenarios based on your results.

Will I be offered any other screening test options during pregnancy?

Yes. Typically, your OBGYN will offer a spina bifida screening test at 16 weeks’ gestation. Spina bifida is a condition where the spinal tube does not fully close, causing possible damage to the nerves in the spinal cord. It’s important to identify this condition as early as possible, because our specialized team at the Colorado Fetal Care Center offers treatment options starting during pregnancy for certain types of spina bifida.

Every pregnancy is unique, and learning about your baby’s development can help you feel more confident and supported as you prepare for parenthood. If you want more guidance navigating the prenatal genetic screening test options, please reach out to your OB-GYN or ask to be connected with a prenatal genetic counselor who can help you make informed decisions on what's best for your baby.