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Advances in prenatal screening increases availability to patients

Meagan
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Flickr

Knowing how to care for a specific genetic disorder before a child is born can make life a bit easier for all involved. This is where prenatal genetic testing can come in, however, it wasn’t always offered to everyone.

This week on “Take Care,” Dr. Jill Hechtman tells us aboutnew advances in prenatal screening, and why it is now being recommended to more than just women with high risk pregnancies. Hechtman is the medical director of Tampa Obstetrics and the chairman of the department of OB/GYN at Brandon Regional Hospital. She is also a frequent face on NBC as "Dr. Jill" and occasionally FOX News.

For almost two decades the most common prenatal genetic testing offered was something called maternal serum screening, according to Hechtman. However, maternal serum screening is not very accurate and is a test that typically isn’t performed until the second trimester of pregnancy.  

“It actually looked at markers, it wasn’t looking at the specific DNA,” Hechtman said.

Now, there is a noninvasive prenatal screening test (NIPT) called Panorama, says Hechtman. Panorama is a blood test that can be done after only nine weeks of pregnancy, and compares maternal DNA to the baby’s DNA to test for genetic abnormalities.

“I would say it’s probably one of the biggest advances we’ve had in obstetrics in a very long time,” Hechtman said.

Since NIPTs like Panorama are more accurate, women typically don’t have to go through further testing if the original test comes out negative. Whereas, maternal serum screening created many false positives that required additional invasive testing, such as chorionic villa sampling (CVS) and amniocentesis, says Hechtman.

CVS draws cells from the placenta via a needle though the vagina, and was often useless after maternal serum screening because it was performed too late into the pregnancy to allow for preparation if a disorder was present, says Hechtman.

Although Panorama tests are more accurate, noninvasive, and allow more time for preparation, it's not always offered to everyone.

“When it first came out it was a little more expensive so they limited it to patients who were high risk,” Hechtman said. “A high risk patient is someone who is over the age of 35, is someone who has findings on their ultra sound that look abnormal and would potentially require chromosomal analysis, a family history [of a disorder], or prior screening that was abnormal.”

The latest medical guidelines are being updated to allow tests like Panorama to be offered to all patients, The tests can make the birth of a child, and even their childhood, go a little smoother with the extra time to prepare, says Hechtman.

“For example, if your baby potentially hasDown syndrome—Down syndrome babies have a risk of heart defects, so I would want to make sure I had you delivering at an institution where there would be a heart surgeon,” Hechtman said. “Having that education ahead of time, not only helps me as the physician prepare, it also helps the patient prepare emotionally for what’s going to happen.”