New prenatal test detects abnormalities earlier

Dr. Joette Giovinco reports

- Every mother wants their newborn to be healthy, but not every pregnancy is risk-free. There is a new prenatal test helping to find abnormalities as early as nine weeks into pregnancy.

Nurse practitioner Jessica Matthews is 15 weeks pregnant with her third child. Her two sons, Will and Charlie are ages four and two, and both are healthy.

With this pregnancy, 33-year-old Jessica was offered something new. It's a blood test called Panorama.

Blood is drawn from expectant moms to detect genetic material from the baby's placenta. It can help spot defects that can result in Down's syndrome, or other trisomy's, sex chromosome abnormalities, and micro-deletions, which lead to conditions like Prader-Willi and Angelman.

"Of course, every woman wants a perfect pregnancy, but unfortunately that doesn't happen," Jessica said.

Dr. Jill Hechtman is Jessica's obstetrician and a spokesperson for Panorama. She said Panorama can be performed early in the pregnancy.

"You can do the Panorama test at nine weeks gestation. One of the other cool things about the test - you can tell the baby's gender ahead of time. People are able to find out a little bit earlier than they were before," Dr. Hechtman explained. 

Abnormal results trigger genetic counseling and additional testing.

"If it comes back that you are high risk, you still need to do other testing like the CVS, chorionic villus sampling or amniocentesis," she said. 

If it's low risk, Dr. Hechtman said you may be able avoid invasive testing, like amniocentesis.

If something is wrong, doctors and parents can better prepare.

"One, I'd be monitoring the pregnancy a little bit different; and two, I'd want to make sure I have you at the best possible location to deliver your baby, meaning be having the best specialist, and NICU, everything available to make sure your baby comes out and can be as healthy as possible," Dr. Hechtman explained.

Panorama is one of several cell-free DNA tests on the market. While a negative result is reassuring for most expectant moms (99.9% for Down's syndrome), the test may be falsely positive (33% positive predictive value) in 67% of women who are at low risk for having a baby with Down's syndrome, according to the American College of Obstetrics and Gynecology Committee Report.

That number drops to less than 20% (83% PPV), when moms to be, are in a higher risk group.  

Jessica said she was happy she had the test.

"I thought it was awesome, actually. They had a lab tech that came to my house. Wonderful, very convenient," she said.

Her test came back 'low risk,' but one thing she won't find out is whether to paint the nursery pink or blue.

"When we came in here for the results, Dr. Hechtman asked if we wanted to know and I looked at my husband... I was like (nods her head yes)... and he was like, 'no'".

The test is used in conjunction with other routine screening tests, like ultrasounds, and it is usually covered by insurance.

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