High nuchal translucency results

[Jellybean14]

Hi everyone
I am 14w 4d and had my nt scan last Wednesday.My nt was really high@. 3.9mm and as a result have had a cvs and fetal heart scan. My initial FISH results are normal so Downs, Patau and Edwards are ruled out but need to wait another 2-3 weeks for full results. The fetal heart scan results looked good but I know there is still lots of hurdles ahead of us. Just wondering if anyone else experienced the same and ended up with a healthy baby in the end? I've read a lot of studies conducted amongst women with high nt's whose cvs and scan results were all normal but ended up with a child with some form of deformity, these studies looked at the babies after birth and after 5 years and despite being normal at birth they go on to develop some problem later in life. I'm so terrified the same will happen to us :-(

[phantomnamechanger]

Hi OP, I just came across this in unanswered threads. Never been on bloggers chat before.

As it happens I have experience of exactly what you are going through but sadly we did not get a good outcome. Not what you want to hear I know, but there IS a slim chance that all will be well.

I would suggest there are better boards for posting this sort of question if you want lots of people to see it.

It is awful waiting for the results but just try to keep well and rested. You cannot change anything by worrying and though that sounds flippant it comes from someone who has been there, celebrated the initial all clear only to be thrown into utter despair a few weeks later when we thought all was well.

sending you a virtual hug and hoping you have lots of RL love and support at this time

[Jellybean14]

Hi phantomnamechanger
I'm so sorry to hear your bad news. If you don't mind me asking could you let me know what your nt results were and what they discovered later on that resulted in the negative outcome. X

[phantomnamechanger]

I think the nt was in the normal range but it was the bloods taken at the same stage that showed high risk of something being wrong. I cant recall the figures, but we were called back to the hospital urgently to get the results, we had an amnio a while later and they quickly ruled out T21, T13 and T18, as they have for you, but the cultures taken from the amnio (when we thought we were in the clear) showed another trisomy - ie an abnormality with extra chromosomes, in triples instead of pairs (I would rather not say the name/number as that would really out me. We could not even find a specialist in the UK who had ever seen this, were told it was probably less than one in a million chance of having this disorder, there were no records of a child born in the UK with this condition, though there were a couple in the USA, and the docs were all amazed that we had not already m/c as apparently many early m/c are due to chromosomal abnormality). DD was already showing signs of inter-uterine growth retardation (very small for dates) and they thought we had about 90% chance of not carrying her to term, and/or her having serious heart and other organ defects. sadly we made the decision to terminate because we had 2 small children and we felt it was best for them, we also felt guilty bringing a baby into the world knowing she was going to have multiple difficulties and most likely require operations etc from the outset. she always will be part of our family. we also have a friend who decided to carry her baby to term knowing that he had downs syndrome, but sadly he died in utero at 39 weeks. Another acquaintance has a son with DS who is an absolute delight though of course he has lots of health and development issues. I'm telling you this to show that there are plenty of women like you and like me who have had to endure things like this, I am sure you will find loads of support and advice, IF you need it, in fact it was searching online for info on DDs condition before we made our decision, that first introduced me to parenting forums like this!
Whatever happens with your results and whatever decisions you might face, your decisions will be the right ones for you in your unique set of circumstances. I wish you well.