Cincinnati Family Magazine

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July 15, 2024

Prenatal Testings: Should You Do It?

Should you do genetic testing? It’s a deeply personal choice.

It’s exciting to go to your first prenatal visits — questions, anticipations, decisions. One of those big decisions is, should you or should you not get prenatal genetic testing? Many factors come into play when deciding whether this is right for you, and it’s your choice.

So why do it? Regina Rae Whitfield Kekessi, M.D., board-certified OB/Gyn at the TriHealth Medical System in Cincinnati says, it’s strongly encouraged for some.

“It’s for someone who may have a family history of genetic abnormalities, maybe a cousin with a condition; certainly different populations may have a predisposition of gene mutations and someone’s age [advanced maternal age, 35 and older] you’re at an increased risk of genetic mishaps,” Whitfield Kekessi says.

It’s also important to know that risk factors come from both sides of your families, she continues. A common genetic mutation found in the caucasion community is cystic fibrosis, where either parent can be a carrier and a common screen is available that your OB/Gyn may offer to you.

“Routine screening includes screening for genetic abnormalities, what we call, ‘anuploytise,’ where one can develop three copies of chromosomes, missing chromosomes; we assess for that,” she says.

Although there are different screenings based on health histories, routine screening checks for abnormalities include down syndrome and turner syndrome. If an abnormality is detected, the next step is deciding whether to take it a step further with diagnostic testing.

Screening Vs. Diagnostic Testing

Over time, genetic testing has developed, says Whitfield Kekessi, and is not risky to Mom or Baby. In fact, screenings offered during your first or second trimester are non-invasive via a blood test available to anyone. Non-Invasive Prenatal Testing (NIPT) can be done as early as 12 weeks into your pregnancy.

“It’s a pretty sensitive test, picking up something that’s not supposed to be there,” she continues. “It’s great to have information.”

If the screening tests show something of concern, you can decide about diagnostic testing including amniocentesis or pregnancy monitoring. The risks that come with amniocentesis (a needle in the abdomen to extract cells from the amniotic fluid) is one in 400 women. If diagnostic testing is out of the question, you may want to consider whether NIPT is something you want to do.

“One should have a decision amongst them prior to getting tested on the different scenarios on the results and how they would handle that,” suggests Whitfield Kekessi.

Weigh Your Options

Genetic testing is a big decision all of us make when we are expecting a new member of the family. Here are some important questions to ask yourself as you decide.

• Am I high risk? (advanced maternal age 35+; family history of genetic abnormalities; or come from a background where you are considered high-risk – mediterranean descent, color, etc.)

• Will the results, that are not absolute, change anything for me?

• I’m not high risk – would knowing just make me worry more?

• What genetic tests are right for me?

• Will my insurance cover it?

If you can sleep better at night having a screening test, then have the test, suggests Whitfield Kekessi. If you think you are going to worry yourself sick and the results are not going to matter at the end of the day, it might be best not to have the testing and to just enjoy each day as it comes, she adds.

About the Author

Amanda Hayward

Amanda Hayward is editor of this publication. She is from Cincinnati, Ohio, and a mom of three with one on the way. If she's not writing for Cincinnati Family, you'll find her running, juggling kids, teaching group fitness classes and cooking up healthy recipes.