Nuchal Scan high risk result but CVS normal

[Amandella]

Hi everyone
I am 40 years old and p/g with my 2nd child (my daughter is 5). I have had two previous m/c. Last week, I went for a nuchal scan and was given horrific odds of 1 in 2 chance of having a child with Downs or other chromosomal abnormality. We couldn't believe it! I have never heard of anyone having such bad odds. The nuchal fold measured 4.4mm. They also checked out the heart and confirmed that it looked OK and confirmed that they had found a nasal bone. We immediately opted for a CVS which was conducted there and then by Professor Nikolides (can't spell!!) as we were at Kings College Hospital. He was fantastic. Anyway the results came back 3 days later and were negative! We have been asked to go back for a cardiac scan and an anomoly scan next week (at 14 weeks) and presumably if everything is OK, we will still have to go back every couple of weeks until at least 20 weeks. I am very confused about this result and convinced myself that there must be another reason for such a terrible initial result on the nuchal scan. The baby seems to be growing well - is ahead of its dates, and as I said, they couldn't find anything else wrong at that time.

Has anyone else had a similar experience? Please help, we are desperate!

thanks
Amandella

Sorry to hear of the time you are going through.

I think that the increased nuchal thickness can be an indicator of structural problems, such as with the heart as well as chromosonal abornmalities.

As your CVS has come back negative, then there is no DS or other chromosomal abnormaility. But a CVS wouldn't pick up structural defects that were due to development rather than chromosomes. Does that make sense???

So I guess that your doctors are being cautious and double checking everything.

I too was told there was an increase in the nuchal thickness when I was 14 weeks gone. The amnio came back clear, but they still checked at the 20 week scan that the heart was ok. And baby got the all clear at 20 weeks. The nuchal fold is used as an idicator not a diagnostic tool, so there can be an increased fold and nothing wrong. I asked my consultant why and he said that theres no real reason why you have increased thickness and nothing wrong, they just use it as a base to decide what monitoring or testing should be offered.

HTH and good luck!!!

I haven't experience this myself, Amandella, and it sounds like a lot to go through especially after having 2 previous m/c. However, rest assured that Prof Nikolides is the leading authority in this area and I am sure that if you ask more questions next week at your anomoly scan, you will get the reassurance/information that you need.
Best of luck - thinking of you.....

Dear Amandella, I am sad to hear about your stressful time and hope that the initial result is just an anomaly. I hope you won't be hurt if I say that even if there is an abnormality, you may still have a lovely baby. Very best wishes.

I seem to remember reading somewhere that sometimes an extra thick "lump" of vernix in the neck area can make the nuchal fold look excessive - so that could the reason for the false positive. Can't remember where I read that though.

The positive thing to hold on to is that the DIAGNOSTIC test gave the all clear. And they are keeping a close eye on you, so if there is something else, developmentally, wrong, they will pick it up.

I know it's easier said than done, but just relax and try and enjoy your pregnancy - that's the best thing you can do for your baby and for YOU. You're in the best of hands!

The CVS rules out the things that would point to a high nuchal measurement - anything else - there is the same chance that any other mother has.

I had CVS as had a high test result (about 1 in 25 or thereabouts I think, will check and see) and got the all clear, PN did mine too and he was a darling. When I went to see consultant was booked in by midwife and when I mentioned it to her she said that the CVS does not rule out CF and other things like that, consultant went barmy at her and told her that I had the same chance as any other mother of having a SN baby as the CVS had ruled everything out that the high nuchal pointed to, to placate me he told me that if I was his wife he would not have mentioned that to me because in his opinion I had nothing to worry about - he had been my stepmonsters consultant 18 years ago and so knows what he is talking about.

To be honest I worried up until my daughter was born and I think you will but you have to try and enjoy the experience and remember that at the end of this you will have a beautiful little child.

Good luck and do keep us posted - I also hope that you understand what I am trying to tell you here - I tend to go round the houses!

We had this with DS2. We were given a 1 in 16 chance of downs and 1 in 4 of a heart defect. However over the numerous scans and tests I had each result came back with a positive result so now we have a stroppy 2 year old!

Hope everything turns out okay for you

I guess that with the 1:2 odds given to you, you were the 1 without a child with chromosomal abnormalities. In the same way, with odds of 1:3000, you could still be that "unlucky" 1.

Thanks everyone for your comments. I really appreciate your thoughts and feedback. Funnily (?) enough, I just met a neighbour of mine who is expecting her second child on Monday. She had her daughter with her who is the same age as mine and she told me that when she was pregnant with her daughter, she had a nuchal result of 1 in 3. Just looking at her beautiful healthy daughter made me feel a whole lot better!

Don't you think that sometimes we just have too much information these days? My mother had absolutely nothing when she had me - no scan or anything at all! And as a result she had a relaxed pregnancy. I'm also thinking that if I hadn't bothered with the nuchal, I would not be worrying at all as my dating scan and bloods would have all been fine since my baby doesn't appear to have DS or other chromosomal abnormality. Ah well, I guess I have no choice but to live with it and pray that at each scan from now onwards, I come back with good news. What a pity that my excitement at reaching the 12 week mark (having had two m/c at 5 and 6 weeks respectively) is now marred by this nagging worry and doubt!

Thanks again
Amandella