False negative NIPT - be warned!

[101HK]

This is really just a vent and warning to others that although the NIPT blood test is sold as 99% accurate I gave birth to a little boy with Down syndrome (who’s absolutely perfect and otherwise healthy), after having high risk combined screening and then a low risk NIPT which I was offered on NHS. I was told it’s so accurate it’s virtually diagnostic so not to worry, and have since spoken to other mums of children with Down syndrome who had the same thing happen. When I questioned the dr they said I must just be the 1 in 10,000 however as I’ve met others I do genuinely question the validity of that and the accuracy rate to be honest…I would definitely recommend to any mums, especially older ones as I’m 39, to have a CVS or Amnio if you really do want to know for sure. Like I said, my son is so beautiful and we’ve come to terms with things but I am angry at the advice I was given so want to make sure others are aware!

@101HK oh and to add, there are no other markers or indicators showing ds or anything else, we have been told our son may just by a small baby but I'm still so nervous. My first born had opposite which made him weight wise on the 10th, small all over EXCEPT femur which was two weeks ahead. I am so confused. The only thing we can do is an amnio to settle my mind, I don't want to go full term wondering 😩

@maria500 i think you’ve probably answered your own question in that’s if you really want to know for sure it will only be by an amnio. Totally sympathise with how you’re feeling as I remember googling frantically. My son also had no other markers except a short femur that showed up at 28 week growth scan. Most likely is just a small baby but if you want to be sure then invasive testing is the only way to ever know really

@101HK thanks for replying! Do you mind sharing what your centiles were for femur vs. all other areas?. I read a lot of cases where low - or 3rd centile isolated femur and with no ds after birth. I came across your post, and it's now made me think twice. I dont really want to do the amnio, but I feel I may need to as I'm feeling very, very anxious. Although our femur of 3rd was only detected at 24 weeks, looking back, it was always small, 20 weeks he was at 12th.

@maria500 I can’t really remember now, only that his other measurements were normal and over 50th centile and femur was around 3rd. It’s worth saying I don’t think it’s helpful comparing yourself to other situations anyway as no 2 cases are ever the same. My original post was just to highlight the failings of NIPT that people may not be aware of. I’m sure all will go well for the rest of your pregnancy xx

Hi Maria, did you go ahead with amnio? Has your baby got DS? I’m in a similar boat

@jmzjmz our son was born 3 weeks early no DS or other genetic disorders discovered so far. Even if he did, to me he is absolutely perfect and I'm so utterly in love with my little man.

I really wished I had not stressed so much during my pregnancy, and I know nothing I write to you will ease the stress you may have completely. Please just know that if your situation is similar to mine, the chance that your baby has DS or anything else is super low. 🙏