New Breakthrough in Prenatal Testing

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Panama City - A new breakthrough in prenatal testing is touted as much safer for pregnant women and their babies and more accurate than the traditional amniocentesis test but some say the cell-free fetal DNA test is controversial.

For years if an early screening came back abnormal a pregnant woman would undergo an amniocentesis to learn more about her baby's development and possible genetic abnormalities but that test comes with risks: statistics vary from 1 in 400 to 1 in 200 causing a miscarriage. The new cell free test requires only a blood draw from the mom, with no risk to her or the child. Though some fear another danger.

Thirty-five year old Jessica Satter is pregnant with baby #3. Jessica had an amniocentesis with her second pregnancy to check for lung development. The test is often used to screen for Down Syndrome.

"Amniocentesis has been the gold standard for genetic diagnosis for many years and that is where a needle is put through the skin of the abdomen into the uterus where the baby is and a small amount of fluid is withdrawn. They can take the DNA from those cells that they remove and analyze the DNA to look for chromosomal abnormalities such as trisomy 21, 13, 18," said Dr. Sam Wolf at Emerald Coast OB/GYN. "It was a little bit scary when I looked at the screen and saw this needle coming in and it looked like towards my baby," said expectant mom Jessica Satter.

Thanks to a new option called cell-free fetal DNA testing, she won't have to repeat it. "What they are doing is getting from the mom's blood millions and millions of fragments of the baby's DNA and using very, very high powered sophisticated technology to piece together these little pieces with a 1% margin of error," explained Dr. Wolf.

While an amniocentesis is usually done between 15 and 20 weeks into a pregnancy, a cell-free fetal DNA test can be done as early as 9 weeks along. Some fear that might increase a woman's likelihood to abort a pregnancy that shows a genetic abnormality.

It's a concern Dr. Wolf wants to address. "Most people would not terminate a pregnancy for any reason but they also don't want to have a test that puts their baby at risk. So when it comes to knowing ahead of time that can be really important for both the obstetrician, the pediatrician, and obviously the family. It is much better when a family is prepared for a baby that is going to have special needs rather than having it be a surprise," said Dr. Wolf.

In addition to learning more about her baby's health, Jessica is excited about another advantage. "I found out that at ten weeks can find out what the gender is, that was exciting too, I don't have to wait to til 20 weeks to find out."

The cost for a cell-free fetal DNA test is currently $1400, but insurance will likely cover it if the mother is 35 or older or if there is an abnormality on an ultrasound.


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