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These days, we can learn so much about the risks of genetic disorders in a pregnancy. And many pregnant women assume they will get genetic testing. But you’re not required to be screened. Having genetic testing is a choice that’s entirely up to you.

That’s why I always start off asking my patients whether they even want genetic testing. To help someone make the decision, I find it helps to get to the heart of their beliefs and values – and why we conduct genetic testing in the first place.

If you’re newly pregnant or planning to get pregnant, here are some questions to guide you toward the answer that is right for you.

1. What are your risk factors?

In my practice, I care for women with a higher-than-average risk of having a baby with a birth defect. They may have a family history of genetic conditions, or they may be older than 35.

These women would seem to be good candidates for genetic testing during pregnancy – and they are. In fact, every pregnant woman is a candidate for genetic testing. But that doesn’t mean every woman wants to be tested.

You can talk with your ob-gyn about your risk factors and use that knowledge to inform your decision.

2. How much do you want to know?

A lot of this comes down to personality. If you know you won’t be able to sleep at night without knowing these results, then you might want to get screened. But for some women, having this information could make them even more anxious. You know yourself best.

3. What would you do with the information?

The planners among us want to know if their baby will have a genetic defect like Down syndrome. This advance notice gives parents-to-be time to line up extra medical resources, determine where best to deliver, and connect with other families who have a child with that disorder. Other women may consider having an abortion if they receive a positive test result from genetic testing.

Still others would prefer not to know anything until the child is born. Their philosophy is, “We’ll cross that bridge when we come to it.”

There are so many avenues you can take. Which feels right to you?

Don’t go it alone

To be sure, this is a lot to think about. Genetic counselors are a wonderful resource who can guide you through this thought process. They can share a level of detail that we doctors often don’t have time to address during a routine prenatal visit. With a genetic counselor’s help, you can better understand the available genetic tests and what might be best for you. Should you choose to have genetic testing, genetic counselors also can interpret your test results.

Ask your ob-gyn to refer you to a genetic counselor if you’re interested.

A personal decision

You can choose to get all the available prenatal genetic tests. You can decide against testing entirely. You might land somewhere in between.

There is no right or wrong answer. The best decision is the one that’s right for you.

Published: October 2020

Last reviewed: October 2020

Copyright 2020 by the American College of Obstetricians and Gynecologists. Read copyright and permissions information.

This information is designed as an educational aid to patients and sets forth current information and opinions related to women’s health. It is not intended as a statement of the standard of care, nor does it comprise all proper treatments or methods of care. It is not a substitute for a treating clinician’s independent professional judgment. Read ACOG’s complete disclaimer.

About the Author
Barbara M. O’Brien, MD
Dr. Barbara M. O' Brien

Dr. O’Brien is a geneticist, obstetrician–gynecologist, and maternal–fetal medicine specialist. She practices at Beth Israel Deaconess Medical Center in Boston and is an associate professor of obstetrics, gynecology, and reproductive biology at Harvard Medical School. She is a fellow of the American College of Obstetricians and Gynecologists and American College of Medical Genetics.