Advances in Non-invasive Prenatal Testing

(Music) With today's new technologies, new moms have a lot of options to get some insight into their developing baby's genetic health How do we know which prenatal screenings are right for us? Here with Today's report is Amber Milt

More than 4 million babies are born in this country each year, and a majority arrives healthy and full-term But, that doesn't stop 78% of mothers-to-be from worrying about potential birth defects Non-invasive prenatal testing ALSO referred to as NIPT is a relatively new option in screening that can get you some of the insights you'e looking for about your baby's health and reduce some of that anxiety Here to help us navigate is Patty Taneja, she's a Genetic Counselor from Illumina, Welcome Patty! Thank you for having me Patty, I know so many women right now that are either pregnant or trying to get pregnant and it seems like there's so much to worry about, is this test for women over a certain age or (are there) certain risk factors? So, information about the genetic health of your baby is important for mom's at any age

Every woman who is pregnant has a chance, or risk, to have a baby with a certain type of chromosomal condition, like Down syndrome The American College of Obstetricians and Gynecologists, recommends that ALL pregnant women, regardless of age, be offered screening or testing during pregnancy for these common chromosome conditions Screening has been around for a very long time, NIPT is the first prenatal screening option that actually looks at the DNA from the developing pregnancy without needing to do an invasive procedure like amniocentesis or Chorionic Villus sample or CVS Okay, so you mentioned NIPT as a screening test and not a diagnostic test, can you explain the difference between the two? Sure, so a screening test is one that will tell you if your pregnancy is at a higher chance for having one of the conditions screened for, but it doesn't give you a definite answer A diagnostic test will give you a yes or no answer to whether that condition is present, however, in order to do these diagnostics tests, they are invasive procedures and they do carry with them a small risk for miscarriage or pregnancy loss

Some women will start with a screening test and then use that information to decide if they'd like to pursue diagnostic testing later in pregnancy So what exactly is NIPT? So NIPT is a very simple, non-invasive blood draw that's safe for both mom and baby It can be done as early as 10 weeks in pregnancy and often women have it in the first trimester There are several different terms that are used so people might be familiar with other terminology like, cell free DNA testing or non-invasive prenatal screening, or NIPS When you do this blood draw, you have DNA that is circulating in moms blood from the pregnancy

These little fragments of DNA can be analyzed to see if you have the correct or expected number of chromosomes present in that developing pregnancy If the correct number of chromosomes is not present, so if an abnormality is determined, then this can have serious effects on the health and development of the baby So, what exactly is NIPT screening for? NIPTlooks for common chromosomal conditions that occur during pregnancy These are ones that are typically NOT inherited; meaning there's not a family history but they are more likely to happen by chance So one that people are most familiar with is an extra copy of chromosome 21, this is also called Trisomy 21 or Down Syndrome

So NIPT screens for that, also Trisomy 18 or Edwards syndrome, Trisomy 13 or Patau Syndrome and differences in the sex chromosomes which are x and y There are some NIPT tests that have expanded panels that are available as well , which can also look at smaller pieces of DNA on different chromosomes or other rare chromosome abnormalities Let's talk a little bit about what the results are telling us and then how we're going to use that information Results of your NIPT can come back showing that the expected number of chromosomes is found for your pregnancy meaning that you can be reassured your developing baby doesn't have one of these conditions On the other hand, results can come back showing that an abnormal number of chromosomes was detected meaning you are at a higher chance for having one of these conditions in the pregnancy

Now, any screening test can have a positive result and that condition is actually not present in the pregnancy and this is called a false positive The good news with NIPT is that the chance of having a false positive is much lower than any other prenatal screening options There is also a chance that you can have a normal reassuring NIPT test result and your pregnancy actually does have one of the conditions tested for, this is called a false negative There are many types of NIPT's available, so it's important that you talk to your doctor about which specific NIPT you've had, how that test is performed, what conditions does it test for and the chances of what is known as a test failure meaning that no test result is able to be reported to you NIPT is superior to any of the other screening options as far as the accuracy and the detection rate of these conditions

So if you have a normal, reassuring NIPT result, you can feel very good about that I think it's amazing that women have so many options nowadays, it seems like there is so much to consider when you're a mom-to-be What would you tell women who are considering NIPT? Well, I think the decision to screen or test for chromosome conditions during pregnancy is a very personal decision and I would encourage anyone who is considering this to think about what this information would provide Would it allow for her and her family to prepare for the future A person could consider speaking with their healthcare provider or to a genetic counselor about what a positive test results could mean for their developing baby

Lastly, most women will get a negative test result which gives them reassurance about the health of their developing baby Thank you so much for being here Patty, you know, I think what it comes down to is with today's new technologies, new moms have a lot of options to get some insight into babies health and that's a great thing For more information on the non-invasive prenatal testing option discussed today, visit Illumina DOT com and you can always go to our website Access Health dot TV, we'll see you next time (Music)

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