Sock Talk- NIPT

In this episode Dr. Gerald Nebeker talks about NIPT prenatal testing and how the results are often misinterpreted.  NIPT Testing What is NIPT? NIPT stands for noninvasive prenatal testing. Doctors often use NIPT to screen for genetic abnormalities.  It is considered non-invasive because the test requires blood from the mother. They are then able to […]

In this episode Dr. Gerald Nebeker talks about NIPT prenatal testing and how the results are often misinterpreted. 

NIPT Testing

What is NIPT?

NIPT stands for noninvasive prenatal testing. Doctors often use NIPT to screen for genetic abnormalities.  It is considered non-invasive because the test requires blood from the mother. They are then able to differentiate between the fetus’ DNA and the mother’s.  While this test is considered to be very accurate, Gerald points out some cautions.

“It’s important to know that it’s a screening test only. A positive result doesn’t necessarily mean the baby has a condition. The test results show that the baby has an increased risk but it cannot diagnose a disorder”

Beware of How Statistics are Represented

The NIPT test boasts a 99% accuracy or 99% sensitivity.  However, if you receive a positive result, this does not mean that your child has a 99% chance of having that condition.

When quoting Bloom Life Gerald stated, “NIPT can detect over 99% of fetuses with Down syndrome but a positive result on a NIPT does not mean that you have a 99% chance of having a baby with Down syndrome.”

Chance Result

Sometimes NIPT gives a chance result when the baby does not actually have the condition.  For instance if you are given a high chance result for Down syndrome there is 20% chance the baby does not have Down syndrome, for Patil syndrome there is a 50 chance the test is wrong and for Edwards syndrome there is a 60% chance the test is wrong.  

You will still need to get further testing such as an amniocentesis to confirm a diagnosis. 

Why Get NIPT?

Even though NIPT there can result in a false positive or negative result, when used as a screening tool, it can be effective in helping to determine if further testing is required.  Some women have mentioned that because nothing is guaranteed they wouldn’t want to have a NIPT done. Others have stated that they want to be prepared for the possibility of having a child with a condition the test screens for.

Gerald said, “I’ve done a number of Orange Socks interviews where a screening test indicated something wrong with the baby and the parents were strongly encouraged to terminate the pregnancy. Only to find when the baby was born that he or she didn’t have that condition.”

Tamara and Matthew’s Experience with NIPT

While Tamara was pregnant with their son Grayson, they had a NIPT done to determine the gender of their baby.  They received the unexpected news that their child was at high risk for Down syndrome. 

During their follow up interview, after Grayson was born, Tamara and Matthew shared their experience.  Even knowing their screening results, they grieved the fact that Grayson did in fact have Down syndrome.  However, they have come to realize they had nothing really to worry about.

>>See Tamara and Matthew’s interview here 

1 Comment

  1. Kelli Brandon

    Hello! I’m actually an employee of RISE and have been for 12 years. This podcast and orange socks resonates so much with me. Not a lot of people know that I had NIPT done for my 3rd child that was born July 2019 and that test came back high for Down syndrome. I was nervous and absolutely devastated when I heard the results. I felt so guilty because I work with kids and adults with disabilities. I had no reason to be scared, but I was absolutely terrified that it could happen to me personally. Upon further testing, it was determined that the baby did not have Down syndrome. But that didn’t take away from the feelings that I felt for that week when it was unknown. I will never forget those feelings and never forget how much I grew closer to parents that I work with even though they had no idea what I was going through. Just wanted to share my experience and thank you for the work you do!

    Reply

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