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NewsWest 9 Special Report: What to Expect, Sooner: The Future of Prenatal Testing

By Trevor Tankersley
NewsWest 9

Pregnancy. It can be one of the most exciting and anxious times for the parents.


Questions like, "Is my baby healthy?" or "What is my baby's gender?" couldn't be answered until nearly halfway through pregnancy, until now.  


"Previously, our blood testing was done at 16 weeks, and you didn't know about the abnormalities until 17," Dr. Madden said.


Now, parents are getting answers just a little more than 2 months into the pregnancy, thanks to new tests by companies like Progenity and MaterniT. 


"This blood test can be done after 10 weeks of pregnancy, so we're getting results after 11 weeks of pregnancy," Dr. Madden said.


Dr. Gary Madden, OB/GYN with the Midland Women's Clinic, says before recent medical breakthroughs, some tests could be invasive, and sometimes dangerous. 


"In the old days, we would just do an amniocentesis on women that were over 35, and that has a risk which can cause a miscarriage. Before the age of 35, it would actually cause more problems and losses, than it would actually find. After 35, they would find more. It was not the best, but it was better than nothing," Dr. Madden said. 


But those risky and uncomfortable procedures are becoming a thing of the past, thanks to a recently developed test. 


"It probably hasn't even been a year since we've being doing the test. So a simple blood test from mom's arm, no risk to her, no needle in the tummy, no risk of a miscarriage," Dr. Madden said.


"It was the quickest blood test I've ever taken," Elizabeth Jones said.

Elizabeth and Charles Jones have a 21 month old son, Noah, and are now pregnant with their 2nd child. Because the test is so recent, they didn't even know about it, despite going through a pregnancy less than 2 years before. 


"I had actually seen on Facebook a friend of ours had found out early on, and had mentioned there was this new blood test. We hadn't heard anything about it," Elizabeth Jones said.


"We found out our previous child about 20 weeks, and that test wasn't even an option," Elizabeth Jones said.


So what was this test designed to do? And how does it work? Dr. Madden explains the process.  


"They're taking blood from the mom and finding fetal cells floating around the mom's blood. There's not that many but there's fragments floating in the mom's circulation. They find these cells and do testing on these cells, and they can find the most common chromosomal birth defects," Dr. Madden said.


Conditions like Down Syndrome or Edwards Syndrome can be identified early, which allows for parents to make the proper preparations for the rest of the pregnancy.


"It may not be something where you choose abortion or to end your pregnancy, but it might affect the management of your pregnancy. Certain conditions have a higher risk of problems," Dr. Madden said.


"It's huge to know this early that if there's something you need to prepare for, it allows you a full third of the pregnancy to get in the right mindset and get the right materials before the birth happens," Charles Jones said.


"Because we already talked about it. It wouldn't change our pregnancy. It wouldn't change our thoughts on the child, but i think both of us would want to be well researched and well educated on what to expect based on what the results were for the test," Elizabeth Jones said.  


While detecting chromosomal birth defects was the original purpose of this test, something else came about during the developing process.  

"They're also looking for sex chromosome problems, including Turner Syndrome and Klinefelter Syndrome, so we know about sex chromosome problems, and even the gender of your child as early as 11 weeks," Dr. Madden said. 

And while it wasn't the main purpose, finding out the gender has become a big selling point for the test.

"We mainly went to find out what the gender was, then it was kind of the nice side effect that we knew what else was going on," Charles Jones said.

Others commented on our Facebook page about why they took the test for different reasons.

Haylee Scott wrote, "we tried for a while to get pregnant so i wanted to know everything i could. Mainly it was for the genetic findings. Finding out it was a boy, was just icing on the cake."


While Andrea Nielsen says, "I did for the chromosomal/genetic info and not for the sex of the baby. I'm older and wanted the peace of mind it provides without having to do an amino!"


"If you say, here's this test that can tell you about birth defects, but oh, by the way, you'll know the sex of your baby in a week. Duh," Dr. Madden said. 

For Elizabeth, these two aspects of the test allow for a more intimate pregnancy.

"I know for me, personally, it helps to personalize the pregnancy. You can really connect with your child. You can really connect with your child when you know for sure that they're healthy, or if it's a boy or if it's a girl," Elizabeth Jones said.


And when it comes to recommending this test to other who are expecting, the Jones' give two thumbs up.

"I think the biggest purpose is to educate people sooner about the birth defects, and what to do and how to prepare for that, and i think that's really important for parents who aren't educated and don't know exactly what to expect," Elizabeth Jones said.

Despite the fact this new test is unprecedented, developers are making sure the test continues to evolve.

"Each month, representatives from the company come and say we've added one more test, and one more test. They're literally adding almost a test per month. I don't know what they're going to keep telling us, but there's this proliferation of genetic tests that are becoming available," Dr. Madden said.

As for access to the test, many doctors in the Basin now offer it. And whileinsuranceocompaniess are continuing to figure out costs, most patients can now take this test for just their copay. That's because in many cases, the companies who offer the test will pay for what insurance doesn't cover.

"These companies are new and trying to make a name for themselves, and so they're very cooperative on making sure you don't get charged an arm and a leg," Dr. Madden said.

"The doctor just called us and said, 'here you go,' these are the results at no extra cost. I think that for anyone that wants to do it, it won't put anyone out because they make it so affordable," Elizabeth Jones said.

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