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BYB Podcast: Genetic testing

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Some women may consider genetic testing when they are pregnant. Screening and diagnostic tests can help women find out about the genetic abnormalities of their unborn baby.

Holly Menino sits down with Lauren Eekhoff, a genetics counselor with Intermountain Healthcare, on this episode of the Baby Your Baby Podcast. Together, they discuss how genetic testing is done and when you should meet with a counselor.

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How are genetic tests done and what conditions do these tests look for?

Screening tests are blood tests that screen for common conditions like Down syndrome and other extra chromosome conditions. These tests are optional.

Diagnostic tests are more invasive procedures that can provide a diagnosis for chromosome conditions in the pregnancy and typically are done if there is a high risk for a genetic condition in the pregnancy. These tests are also optional.

When might you want to meet with a genetic counselor if you’re pregnant or thinking about getting pregnant?

  • Women who’ll be over age 35 at delivery
  • Women who’ve had an abnormal genetic test result
  • Women with abnormal ultrasound findings
  • Women who’ve had a previous pregnancy with a genetic abnormality
  • Couples with a family history of a genetic condition

What do genetic counselors do?

A genetics counselor can help you weigh the benefits, risks, and limitations of genetic testing and provide information about the nature, inheritance, and implications of genetic disorders to help you make informed decisions.

What kind of training do genetic counselors have?

Genetic counselors have a master’s degree and become certified. They work in a variety of medical specialties including prenatal, pediatric, cancer, cardiovascular, and neurology.

When can women see a maternal-fetal medicine genetic counselor?

Before becoming pregnant, during pregnancy, or after you receive genetic test results.

What are some reasons to do or not do genetic testing?

Most pregnancies are uncomplicated, most babies are born healthy and no test will ensure the birth of a healthy baby.

  • Some women may choose not to do genetic testing as this may cause anxiety during pregnancy.
  • Some women choose genetic testing for reassurance or for planning purposes.

How accurate are the screening tests?

It’s important to remember screening tests will never be 100 percent diagnostic.

Each screening has a detection rate for different conditions as well as false positive and false negative rates.

A normal screening result can be reassuring and makes the likelihood of those conditions in the pregnancy low.

An abnormal screening is NOT a diagnosis and requires further investigation which may or may not involve diagnostic testing if a woman chooses.

What are the risks of the more invasive genetic tests?

There is a risk for pregnancy loss of about 1:300 to 1:500 procedures with various genetic tests. Women who choose a diagnostic testing procedure can weigh the benefits of diagnostic results with the possible risks of the procedures and would benefit from seeing a genetic counselor.

What to expect during your appointment with a genetic counselor

Family pedigree: A genetic counselor will collect a family history or family tree representing different members of the family to document family members with genetic conditions, birth defects, intellectual disabilities, or multiple pregnancy losses. The counselor uses the pedigree as a tool to assess the risk to you and your current pregnancy.

Risks, benefits and limitations of testing: A genetic counselor will discuss different testing options in your pregnancy and educate you about the risks, benefits, and limitations of various tests, approximate cost, turnaround time, and follow-up in the event of an abnormal result, so you can decide what testing (if any) may be right for you.

Emotional support: Genetic counselors are trained in counseling to provide emotional support and can assist women or couples in navigating challenging situations in order to help them make decisions that are best for them. They also provide written and online resources as well as referrals to other specialties if necessary.

To find a genetic counselor or for more information on genetic testing click here.

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The Baby Your Baby program provides many resources for all pregnant women and new moms in Utah. There is also expert advice from the Utah Department of Health and Intermountain Healthcare that air each week on KUTV 2News.