Ask Our Staff: Genetic Testing

Dear Peggy:

I’m pregnant with my first baby, and my doctor recommended I have genetic testing to see if he’s at risk for a birth defect. What does the testing actually do?

Genetic testing is also called chromosome analysis. It gives us information about changes, or abnormalities, in the chromosomes that make up your and your baby’s DNA. Genetic testing helps find out:

• Whether you carry genes that may cause a disease in your children
• If your unborn child, newborn, or young child may have a genetic problem
• Why you’re having trouble getting pregnant or having miscarriages

What happens during genetic testing?

We gather cells for genetic testing either through a blood sample, from tissues around your baby (chorionic villus sampling), or from the amniotic fluid (amniocentesis). We also use ultrasound to look at internal structures of your baby.

The cells are then sent to a lab where they’re analyzed. By looking at your baby’s chromosomes under a microscope and taking pictures of them, which is called karyotyping, lab staff can tell whether your baby has any abnormal numbers, missing pieces, or extra chromosomes in his cells.

If your baby tests positive for a chromosome abnormality, we will discuss his risk for a birth defect.

Who should consider genetic testing?

Although anyone can receive genetic counseling and testing, we highly recommend it for:

• Women older than 35 who are pregnant or planning to become pregnant
• Certain ethnicities or couples with increased risk
• Couples who have a child with a birth defect
• Couples who’ve had miscarriages

Speak with a Genetic Counselor

If you are interested in speaking with one of our certified genetic counselors like Peggy Kerper, MS, CGC, please call (865) 331-2020 for an appointment.

Depending on your insurance, you may need a referral from your primary care physician for genetic counseling to be a covered benefit.

Before you schedule an appointment, it is helpful to gather as much information as possible about the issues that are concerning you. We suggest you talk with family members and request medical records. If you have any questions about what you should have ready for your appointment, please call us at (865) 331-2020.

Disclaimer: please note that this information is for educational purposes only and is not intended to serve as medical advice. If you have a specific medical question or issue, we encourage you to call our office at (865) 331-2020 and schedule an appointment.