Genetic Counseling and Genetic Testing in Pregnancy

There are many reasons for genetic testing in medicine today. From learning what conditions might run in the family to preparing for pregnancy, the field of genetics can help people become more informed about their medical decisions. When it comes to family planning, genetic testing and genetic counseling programs are on the rise. Here’s what you need to know.



What is Genetic Testing?

Genetic testing is a way to observe an individual's DNA through lab tests. It can identify abnormalities or mutations in chromosomes and genes. Prenatal genetic testing can help expecting mothers examine whether or not their baby may be at risk of chromosomal disorders, and equip parents with options if any of these risks occur.


Since genetic testing has advanced over the years, it’s becoming more affordable and available. Prenatal genetic tests can test more than 400-500 genes today. There are two main types of genetic testing during pregnancy: screening and diagnostic.


Screening Tests vs Diagnostic Tests

Many people misunderstand the difference between screening tests and diagnostic tests in prenatal genetic testing.


Genetic screening tests, commonly known as non-invasive prenatal tests (NIPT), are tests that can determine what level of risk a fetus has of being born with abnormalities. This is a blood sample drawn from the pregnant woman— there’s no need to go in and take any embryonic fluid.


The purpose of a screening test is to look for certain chromosome conditions and to see whether you need additional [diagnostic] testing.” - Jennifer Saucier, a genetic counselor at Natera.

A diagnostic test is more invasive than a NIPT. This is a test to diagnose a fetus with more accurate results. Diagnostic tests analyze samples from the amniotic fluid, which tests baby skin cells that contain his or her chromosomes. These types of tests are much more accurate than NIPT at determining abnormalities a baby will likely be born with.


“Many women who are thinking of doing genetic testing may want to do a screening test beforehand, since diagnostic tests can be riskier.” - Jennifer Saucier

Click here to listen to Jennifer Saucier, a genetic counselor, explain Non-Invasive Prenatal Testing on the Fempower Health podcast.


What does Non-Invasive Prenatal Testing Screen For?

Prenatal genetic tests are designed to reveal if there are any risks of chromosomal abnormalities in a baby. Tests can be done as early as 9-10 weeks.


NIPTs test for the risk of conditions like:



Some genetic tests called carrier screenings can be done during the family planning stage. Genetic testing before pregnancy can determine the “carrier conditions” of both parents. When both parents are carriers of certain genes, it can pose a higher risk for a baby.


The point of these tests is to help a woman prepare and manage her pregnancy, especially if she finds she has a baby with special medical needs to take into account for birth.


What is Genetic Counseling?

While genetic testing is a powerful scientific tool in modern medicine, having a genetic counselor who can read your test results and guide you in pregnancy is just as important. Genetic counselors are certified clinical counselors with specialized training in genetics.


Genetic counselors are responsible for:


  • Educating women and families about their options for testing, prevention, and planning

  • Providing disease risk assessments

  • Reading and explaining genetic test results

  • Offering counseling and psychosocial support to patients with varying genetic risks

  • Empowering individuals to understand how genetics affect them and their future


Genetic counselors also offer extensive emotional and mental support to people who need to make big decisions based on their genetic test results.


Who Needs Genetic Testing and Counseling?

Any woman who wants to know her or her baby’s level of risk for chromosome abnormalities should get a genetic screening test. Prenatal genetic tests are widely available for any pregnant woman. Most tests can be covered by health insurance. According to the American College of Obstetricians and Gynecologists (ACOG): “Approximately 80% of insured patients in the US are covered for NIPT regardless of risk, and nearly 100% are covered in a high-risk pregnancy.”


Listen to More Pregnancy Podcast Episodes from Fempower Health.


What to Do if You Want Genetic Testing

Whether you’re pregnant and want to know your baby’s risk or you’re still in the process of planning a pregnancy someday, here are some things you can do to make the most of genetic testing.


Get Educated and Ask Questions

Start looking at prenatal genetic testing resources early. Ask your healthcare provider or OB/GYN about your options— even if you don’t need immediate testing. ACOG answers many Frequently Asked Questions about genetic testing if you’re unfamiliar with the subject and want to learn more.


Many people never know they have the option for genetic testing until they become pregnant, which is a time when newly pregnant women are already overwhelmed with tests. Genetic testing can be helpful for couples in the family planning stage of their lives before pregnancy.” - Jennifer Saucier


Talk to Your Doctor

Depending on the type of test you get, there can be slight risks. Diagnostic testing involves an invasive procedure to collect amniotic fluid surrounding the fetus, which can increase the risk of miscarriage in some cases. Talk with your doctor before making a decision.


Call Your Insurance Company

Today, prenatal genetic testing is often covered by many health insurance companies. If you want genetic testing during pregnancy but fear you can’t afford it, call your insurance provider to learn what you can do.


Find a Genetic Counselor

When getting tested, one of the most important things you can do is to get a board-certified genetic counselor to go over the results with you. While some OB/GYNs can read screening and diagnostic results, having a genetic counselor by your side ensures you and your family know all the options available for your specific genetic circumstances.


Find a genetic counselor near you or opt to speak with someone virtually via Telehealth.


Contact Natera, a personalized genetic testing, diagnostic, and counseling center.


Want to learn more? Hear more tips about non-invasive prenatal testing and other types of genetic counseling on the recent Fempower Health podcast episode with Jennifer Saucier of Natera.