Hi @happygolucky20
I am soo sorry to hear that you are in similar shoes. I am not a doctor but for the last 3+ months I have been looking for answers about my pregnancy so maybe I will be able to lessen your stress just a bit.
What I have gathered so far is that a risk of a false negative NIPT result is very, very low 0,03%. It’s a bit higher for a false positive (and this is what my case is, hopefully). You have received a low risk result for a child to be trisomic. Were your pappa levels low?
What I have also learned so far is that the most certain result (99%) you will only get after the FULL amnio result. You should receive a rapid result first but there are cases that rapid result is different than a full result. I am such case.
You need to hold on tight as for the full result you might need to wait for as long as we did - full 4 weeks. This has undoubtfully been the worst 1 month of my life.
As you saw in my above description in this chat we got the first rapid result saying that our child is a t18 mosaic 15%. We were devastated because a mosaic can mean nothing to the child or can result in a child being fully affected with t18. But we continued waiting. The full karyotype came back with 60 normal cells. We couldn’t believe our luck. We still can’t and I keep going to private consultations every 2 weeks.
Our girl is almost 1kg now (i am 26 weeks in) and so far No markers of T18 have been confirmed.
The rocker bottom feet are No longer in the picture. We have never had clenched fists in any USG scan. The heart looked Ok on a scan in week 21. We are having a repeat scan in 2 weeks.
If I can advise you on something, book yourself an appointment with The Fetal Medicine Clinic in Harley Street, London (I don’t know where you are from, but I can only say positive things about my appointment there). It is costly but people who work there are world class experts in prenatal testing.
I would do it while you wait for a full amnio result because maybe it will take some of your uncertanity away. It really helped me and my husband go through the darkest of times.
Saying this we are still not sure if our girl is healthy but we have 99% chance that she is and the t18 is just in the placenta.
I read 5000 pages of a forum in my home country. It gave me a lot of currage as women there were explaining faults that have been found in their growing babies. Some of these faults have been really severe (cysts in brains, kidneys, and what not) and very frequently the kids were born healthy! Sometimes it is because of of knowledge on the doctors side, or the equipment was not of the highest quality.
Your harmony test result looks reasuring, I really hope you are not within this 0.03% of false negatives. I wish you this from the bottom of my heart.
I chose to monitor our baby regularly and I hope No markers are going to be seen. I have 14 weeks to go unless the baby stops growing (which is likely if the placenta is affected). Please pm me if i can help further.