Sudden increase in nuchal fold at 24 weeks?

[peanuts777]

Hi,
I am 24 weeks and was scanned at both 12 and 20 weeks and the nuchal translucency/fold and both were normal. There were no other soft markers, with the exception of a very slight brightening of the bowel which was noted at 20 weeks and was explained by the fact that I had 15% placental lakes and debris in the fluid, thus the baby had ingested blood which shows up on an ultrasound as brightening. Neither the FMC, nor my obstetrician were at all concerned.

I went back for a check up scan at 24 weeks and the nuchal fold has tripled in 3 weeks to 13mm, which is drastic. The FMC have done a TORCH test and they sent me to King's to have an amnio with Nicholaides immediately, there are no other indications of any structural problems with brain or heart. THe only concern is the fluid behind the neck, a very mild brightening of the bowel and a very slight dilation of the right kidney. There are no structural problems other than those "markers".

I am utterly distraught. They called me on a Friday afternoon to tell me that they are testing for Noonan's and Costelloe's and that should they come back as positive i should prepare myself for a termination at 32 weeks (as that is when the results will be back in.)
I am waiting for the results for my amnio and am fraught. I feel desperate and completely freaked out........Please help and talk whatever your story, positive or negative.
Thank you,
Px

Are you of the mind that you would want a termination, peanuts?

I don't think that any medical professional can tell you that you should terminate. They should only be telling you the prognosis.

I know there is a poster on these boards whose child has Noonans, and I know a delightful child with Noonan's, who although is disabled, is a walking talking barrel of laughs.

Sorry you are facing this

Hi Lougle,
Thanks for responding. I cant get my head around the thought of having a termination. I feel so bonded to my child and I can't understand it.
I have two other children and we ar all so excited about having. New baby. I am 35.
Up until Friday mid morning, my husband and I had no idea that anything was wrong and had never heard of Noonan's or Costelloe's or any real knowledge of genetic syndromes. So, of course, you try to find information on the Internet. We can't seem to find any cases of baby's in the womb having an increased nuchal fold at 24 weeks (previously with normal measurements) as a standalone symptom. The consultants were also completely baffled, as the measurement is so large that they would expect structural indications with limbs, hands, feet, spine or heart. There is nothing.

I just don't think I could have a termination, but I also wouldn't want to have a child in terrible pain with very poor quality of life.
My husband had a younger brother with Downs who as seriously ill with a heart condition and died following a series of operations at age 2. He was a much loved and happy child, but he went through a he'll of an ordeal and alotof pain and time in hospital.

I am confident that we could have a baby with Downs who could have a happy life and who would be adored, as there appear to be no serious structural abnormalities. It just depends what the tests come back with.
My main concern is: what I'd the tests come back negative for the main syndromes? We have been told there are 100s that cannot be ruled out, some of which are horrific.

I think at the moment we are just so shocked and devastated and we have not even had a chance to talk to somebody face to face. They did the amniotic without asking, told me to stop crying and that I would have to sign a consent form afterwards. Which of course I was glad to do, do we could asses the health of the baby, butit gives you someidea of how much time they had to talk us through the implications, probabilities, possibilities and moving forward. The next thing, I had a phone call saying did I want to bother doing tests for Noonan's and Costellloe's as they are very expensive and the test results would be back in 8 weeks ( when I would be around 32 weeks), soothe baby might have died by then or would. Want to book in for a termination then. I was horrified. This was 3 hours after we ever found out there was a problem.

It would be a dreadful scenario at 18 weeks with a definitive result, but at 24 weeks with no results or info at all I dontknow how they can ask you the question. Especially, over the phone.
Sorry to write such a long response, but it is very difficult.
Thank you agai for replying Lougle,
peanuts

I think there are very few cases of Noonan's diagnosed in utero. Even if the test is negative in 25% of cases the baby is still affected because they don't know all the genes they are looking for.

Noonan's can be no big deal, really, though I appreciate some of the others are pretty horrific.

DS had a large nuchal at 12 weeks, he has some markers for Noonan's but not enough for a diagnosis I don't think.

Don't be bullied into anything! You do not have to do anything you don't want to. I refused a CVS and none of the consultants I saw could understand why. To them it was large nuchal=CVS if ++termination. They could just not get their heads around the fact that I was on a different page and that this was my BABY.

One thing my pregnanacy and various issues it threw up taught me is that they do the tests and they think they indicate something, but they really don't know what.... It is very frustrating.

Good luck.

Should add DS was born 22 weeks ago and has some Noonan's markers.

Hi Olivia,
THanks so much for your response. I got my TORCH tests back today (infection screening) which was negative and that one is ruled out.

I also got back the first few results from the chromosomal side of amnio tests: Downs's and Trisomy 13 and 18 are all negative.
So, on one hand we are thrilled that the we have ruled out something and got at least some results, on the other hand it may be something else. So, whilst we are feeling grateful for some positive news, we are not out of the woods.

we had another scan today and they remeasured and there is no change to the nuchal fold or any of the organs, so that is also very positive.
I feel like the pressure is off me, as it this point in my pregnancy termination is not an option unless the baby would be in severe pain and distress and not survive.

I can't agree with you more regarding the myriad of tests not really revealing things, I feel a bit like a guinea pig. They seem to be able to rule things out, but not actually tell you anything.
I am just going to take the good news we have had today from scans and amnio results round one and cling on for dear life and HOPEFULLY sleep tonight, for the first time since Thursday.

Have they talked to you about your having your babe tested? Are his markers severe or soft? Personally, I imagine I would probably be of the mind that if he was happy and comfortable I wouldn't want to put him through tests........? I don't know enough about Noonan's to know the symptoms and effects......
Thanks again,
Peanuts

Glad you have had some good news, even though you don't have the complete picture (but to be honest, I suspect you never will). Take it easy for a bit and try and relax. My whole pregnancy was ruined by tests and their 'findings', try not to let that happen, it should be such a special time.

DS has quite wide set eyes, downward slanting and pectus excavatum (funnel/sunken chest), fat neck (!), low hairline. There was the nuchal, he had increased fluid in his brain and I had polhydramnios. All markers....

I haven't taken him to the Docs, other than for his newborn/6 weeks checks, but must do it soon, just for peace of mind I think! Particularly as Noonans has a chance of mild learning difficulties, so if he does have it, it would be good to know for future support.

You ask whether they have talked to me about having him tested - ha! He had a newborn check by a paediatrician on the day he was born, and that's it, no one has mentioned it since. They did all these tests and then just abandoned me as far as I can tell

Peanuts, which hospital are you with? It sounds horrendous. We had a nuchal measurement of 4.2mm at the 12w scan, but also a cystic hygroma (large fluid-filled sac on the neck) measuring 9mm. We were told that the prognosis was not good, that bloods were irrelevant, and the consultant admitted that studies showed few babies made it to term (the main Nicolaides study on cystic hygromas showed fetal mortality rate of >95%). However, he only said that when pushed and both he and the fetal medicine MW emphasised that very few studies existed anyway and that many people terminated on diagnosis so the prognosis may well be artificially bleak. Basically I was offered pretty much any test under the sun before we even talked about termination, though they were realistic enough to tell us that may well be the outcome.

However - I wasn't offered testing for Noonan's, though they said it might be a possibility, because they said tests were incomplete and could only come up with a diagnosis in 50% of cases. So basically if you get confirmation of Noonan's, you know the baby has it, if you don't, you're still none the wiser.

We're still going through tests, and obviously our situation is very different to yours, but our hospital seems to be a hell of a lot more supportive than yours. Everyone I've seen so far seems to be of the view that whatever the apparent bleakness of the case, don't give up till it's all over. Signing a consent form after the procedure is outrageous. What difference would half an hour have made, other than to give you a decent explanation and knowledge of what you were consenting to? Wishing you all the best for a good outcome.