Intermountain Health Genetic Counselors Help Families Understand Fetal Complications

Most pregnancies are uncomplicated and can be managed through routine prenatal visits with a doctor or midwife. Most babies are born healthy. But what if a screening or ultrasound comes back with results showing possible complications with your unborn baby. What are the next steps?

“Since the COVID-19 pandemic, most insurance plans pay for a simple noninvasive prenatal testing (NIPT) blood test at 10 weeks of gestation for pregnant patients,” said Janessa Mladucky, MS, CGC, a certified genetic counselor at Intermountain Health.

“This is a DNA screen that looks at the pregnancy’s  chromosomes, to see if there are any abnormalities such as Down syndrome or other, more rare conditions like trisomy 13 or 18. T This screening is optional. If your pregnancy is at a higher risk of having one of these conditions, you should be referred to a genetic counselor,” she added.

At the 20-week ultrasound, heart defects or other conditions related to the baby’s organs may be detected.

What 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.

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 pregnancy.

“As genetic counselors we provide the pros and cons of doing certain tests and help interpret the results for our patients. There are no right or wrong decisions. We just encourage our patients to make the best decision they can at the time, with the information they have,” said Mladucky.

Other genetic tests can be done to check for other fetal conditions
Diagnostic tests are 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. The most common of these tests is an amniocentesis, where a needle is inserted into the woman’s abdomen to withdraw amniotic fluid. There are thousands of genetic conditions. Diagnostic tests are also optional.

When women might see a genetic counselor

• Women who have certain pregnancy complications may be referred to a genetic counselor by their OB/Gyn, midwife or women’s health provider.
• Women who have received 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

Women may see a maternal-fetal medicine genetic counselor before becoming pregnant, during pregnancy, or after they receive genetic test results.

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.

Accuracy of the genetic screening tests
It’s important to remember screening tests will never be 100 percent accurate. 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.

There are some risks with the more invasive genetic tests
There is an approximately 1 in 500 chance of pregnancy loss when undergoing a diagnostic procedure, such as an amniocentis. 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 an appointment with a genetic counselor

Family pedigree: A genetic counselor will collect a family history 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.

“Having information about your family medical history helps genetic counselors determine if your pregnancy is at a higher risk for certain conditions. We ask if you have any family history of genetic conditions, birth defects, autism, intellectual disabilities or if you have had multiple miscarriages,” said Mladucky.

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.

For women with a high-risk health condition who are considering pregnancy, the maternal fetal medicine department at Intermountain Medical Center in Murray has a Pregnancy Preparation, Prevention and Risk Evaluation (PrePPARE) Clinic which offers pre-pregnancy risk assessments and evaluations. Call 801-507-7400 for more information.

Janessa Mladuck is a genetic counselor at Intermountain Logan Maternal Fetal Medicine in Utah.

For more a referral for genetic testing, talk to your women’s health provider or for more information visit intermountainhealth.org. To find a genetic counselor in your area click here.

About Intermountain Health

Headquartered in Utah with locations in seven states and additional operations across the western U.S., Intermountain Health is a nonprofit system of 33 hospitals, 385 clinics, medical groups with some 3,900 employed physicians and advanced care providers, a health plans division called Select Health with more than one million members, and other health services. Helping people live the healthiest lives possible, Intermountain is committed to improving community health and is widely recognized as a leader in transforming healthcare by using evidence-based best practices to consistently deliver high-quality outcomes at sustainable costs. For more information or updates, see https://intermountainhealthcare.org/news.