Very high risk NT and 12 week bloods, low risk NIPT result. What next?(5 Posts)
I have posted on some other threads recently as at my 12 week scan I was told I was very high risk, (greater than 1 in 5) for Downs Syndrome, Patau syndrome and Edwards syndrome. This was based on very high NT measurement of over 6:5mm and hcg and papp-a levels being low on blood results.
We were told baby would most likely have a chromosome abnormality, if not one if the 3 mentioned above then another one, or another type of abnormality, such as a heart defect and that there was a very high chance I would miscarry. We prepared for the worst and opted to have NIPT. The results came back as very low risk for the 3 chromosome abnormalities mentioned above.
Whilst this is good news I'm still worried, based on what I was told after the scan. I was wondering if anyone else had experienced this? If anyone else had been in this position and found the baby had another abnormality? Or anyone who went on to have a healthy baby?
I'm conscious that NIPT, although quite accurate is still screening and not diagnostic, that it only gives a result for 3 abnormalities and it is possible to get a false negative.
I've been told I can have further tests, such as amnio, on the one hand I would like this to give a definite diagnosis for all chromosome issues, but I'm also worried about the risk of miscarriage. I really don't know what to do.
I'm sorry you're in such a confusing situation, it must be incredibly worrying.
I think that, given the low serum levels in your blood and the very high nt measurement I would have to have an amnio or cvs to rule out any chromosomal issues. Even if the initial results come back clear for Downs/Patau/Edwards something may show up on the full karyotype.
I am biased as I was recently given a 1:3 for Edwards, and I know that if I get pregnant again the only results I will trust are an amnio or cvs. (I did have the NIPT with dd though, which was brilliant at the time, but I'm too paranoid to trust anything but invasive now ).
Two other points to consider, which you probably know from googling, are that low Beta HCG and PAPP-
A levels are more usually associated with Patau/Edwards, Downs tends to be high Beta HCG and low PAPP-A. Also, that although the miscarriage risk for amnio/cvs is reported as 1%, I have been told by a consultant that it is very rare to miscarry if the baby is ok, it is generally where there is an existing problem that miscarriage occurs.
We were due to have a CVS at 13 weeks, they couldn't do it due to position of the placenta, so we went back at 14 weeks for another attempt, but the baby had died in the interim. If they had carried out the test at 13 weeks, my baby would still have died as it was very unwell, but it wouldn't have been because I had the CVS.
I think if your risk is a lot higher than 1:100 then it's worth having an invasive test because the risk of mc is lower than the risk of there being a problem. Or alternatively you wait until your anomaly scan at 20 weeks and see if anything shows up.
Would the clinic who carried out your NIPT consider re-testing given your combined test results?
I'm also not sure how accurate NIPT is in cases where there is mosaicism and if that can give a false negative.
If you haven't already, you might want to talk to ARC, who are a wonderful charity, with a very helpful and supportive helpline.
I hope it all works out for you.
We had our 12 week scan a couple of weeks ago and had a high NT measurement and we're given a 1 in 10 chance of cromosome issues.
I had the CVT (similar to amno) a week ago, results came back as all clear for all chromosomes and it had totally put our mind at ease.
We still have to go for a heart scan at 16 weeks to check for heart abnormalities
and just been for a check up and baby is fine
Oooos posted too soon
It is a really scary time.
At our appointment today they mention that the NT measurement may be due to other issues such as club foot.
Just hoping everything goes well at our 16 week scan now. It was so reassuring to hear heart beating today.
If you want any advice on the CVT/amino I can try and explain
Sending wishes for your baby
Thanks for your responses. We decided to have the amnio and we're now waiting for the results.
LonelyCooler, when is your scan? I hope all is well with your baby.
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