Has anyone had a low risk NIPT result for any of the three trisomies and in the end their child was diagnosed with one of the trisomies? The doctors now a days seem to put so much reliance on the NIPT test and some have even stopped offering the NT ultrasound scan and blood test in its absence. Than you for sharing!
I never had a NIPT, completely opted out. When the 20 week ultrasound showed markers, we followed through with a level 2 doc. That scan was clear. Honestly, even if markers were shown at an early NIPT test, would it have changed our minds - nope. Nature would take its course and we would live baby.
Honestly, I live the medical field with all its advances - it's amazing! Yet, I think sometimes they are sometimes too cautious and give worst case scenarios when it's not necessary (happened to me twice). When you are give the results is an odd factor - so you never are safe until baby is born (per my level 2 doc).
I haven't since I didn't test on my daughter due to my age, wasn't high risk. But I am in a rockin mom group for t21 and there were 6 ladies who had low risk and ended up having a child with t21, in the 2015 group. The nipt test are more accurate if you are ama. Nipt may struggle to pick up mosaic, too.
@rklinge0 Thats so alarming/interesting that the NIPT came up low risk when in fact their babies did have T21. I will be 36 when my baby is born so I am in the ama group. My NT was 2.7mm which is on the higher side of normal and my ob did not recommend an amnio due to my low risk NIPT results (less than 1 in 10000 for all 3 trisomies). He went on to explain some obgyn don’t even do the NT ultrasound and blood test and instead only due NIPT as it’s way more reliable. But maybe not so much based on your feedback!
I had a low risk NIPT result @ 12 weeks a slightly high NT measurement (2.9,) and found out at our 20 week US that baby had hydrops fetalis with no known genetic cause (I understand this is very rare) and was given two weeks to live. I've seen a few other posts from you and my advice would be to advocate for another scan at 14-16 weeks to see if the fluid is increasing or has dissolved. The 3 trisomies are the most common genetic defect doctors test for but really there are thousands of others out there. I had an amnio which included a macro and micro array, and still didn't find the genetic cause of my daughter's demise, which was almost certainly genetic.
The NT measurement is more important than any blood test they run, if your doctor doesn't wan to do it, absolutely find a new doctor.
Also, I just re-read this and in no way do I mean for this to scare you. I just feel very strongly about the subject because what we went through was really, really hard on my family and I. So, my advice is just to advocate for yourself and most likely it's no big deal. Best of luck to you.
@nomangos23 thank you for sharing your story and I’m sorry for what you went through. I think I need to push for another scan, you are right. My ob and the genetics counselor were both just us dismissive about my worry. This is not their baby or their life so it’s easy for them to dismiss. The uncertainty is so scary....
Re: Low risk NIPT results
Honestly, I live the medical field with all its advances - it's amazing! Yet, I think sometimes they are sometimes too cautious and give worst case scenarios when it's not necessary (happened to me twice). When you are give the results is an odd factor - so you never are safe until baby is born (per my level 2 doc).
The NT measurement is more important than any blood test they run, if your doctor doesn't wan to do it, absolutely find a new doctor.
Also, I just re-read this and in no way do I mean for this to scare you. I just feel very strongly about the subject because what we went through was really, really hard on my family and I. So, my advice is just to advocate for yourself and most likely it's no big deal. Best of luck to you.