NIPT (Non-invasive Prenatal Testing) on Today Show

Though there are some inaccuracies in the video (such as saying this testing can detect the “three different kinds of Down syndrome”), it is an interesting topic that is hot in the media right now. Most labs offering this test are targeting physicians (primary obstetricians and maternal fetal medicine specialists), but one lab in particular is targeting the popular media. This is the clip where a couple is pregnant and the women will be over the age of 35 (advanced maternal age) and therefore was offered screening for “genetic conditions” as an option for future planning. They choose the non-invasive prenatal testing (NIPT) which is able to detect fetal DNA in the mother’s blood and assess for the presence of too much genetic material (suggestive of Down syndrome, trisomy 13 or trisomy 18).

I find it interesting how it describes invasive testing such as CVS or amniocentesis as having false postive results, but does NOT mention false positive results with this new test; which is of course possible. It also fails to mention that this new test is NOT being recommended for women who are not at an increased risk to have a baby with a chromosome abnormality to start with.  I was happy, however to hear discussion about the fact that this testing cannot screen for all genetic abnormalities. 

Though this sounds like crazy futuristic testing it is real and available across the country in many primary obstetric offices/maternal fetal medicine offices.  There are at least 4 different labs in the country performing the testing and current research expanding the type of conditions which can be identified.  

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Though a new and exciting option which we are happy to offer to our patients; it is still a screen and false positive and false negative results are possible. 

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