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Antenatal tests

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Original poster

Anyone else had a high nuchal twice?

13 replies

5amisnotmorning · 22/08/2013 17:38

I can't believe that I am here again.

DD (now 2) had a nuchal over 5mm and bloods that made it even worse. Despite a 1 in 2 probability, she had a clear cvs and heart scans and seems to be fine.

I am 12 weeks pregnant and just been for my scan and have another urgent referral for diagnostic tests due to the 3.8mm nuchal. And given I am exactly the same as in my first pregnancy, I have no doubt that the bloods will make the results worse again.

We will be having the harmony test not the cvs but
A) I can't believe that we are going through this again
B) it makes me worry that there is a genetic condition that hasn't been picked up on.

I have never heard of anyone else going through this without a chromosome issue. I know I have a beautiful DD and I am so grateful for that but I just wanted to enjoy this pregnancy.

OP posts:

missmapp · 22/08/2013 22:22

Yes. With DS 1 the n fold was 4.1, with DS2 it was 4.8. DS 2 has a mild heart defect and has since been diagnosed with Noonan syndrome, again mildly. It. Is probable DS1 has it too but both mildly , it is not progressive and had we not been to numerous heart appts we would never have known. Both are fine and healthy.

Hope all goes well for you,

Original poster

5amisnotmorning · 23/08/2013 10:35

Thanks so much Missmapp.

Did you have any diagnostic tests with DS1?

We had a cvs with DD and the karyotype came back clear but I know it doesn't test for all abnormalities. I am so worried now that there is a genetic reason for this that DD may have too.

OP posts:

CrispyFB · 23/08/2013 11:42

I wonder if it's worth discussing with your doctor about getting some sort of microarray testing for you and your DD? I suspect it might be hard to get it investigated unless your doctor is sympathetic. I have a friend who has a very rare genetic syndrome caused by I think a tiny deletion - they wanted to diagnose her as autistic (it took until she was 3 or 4 before they had suspicions) but it didn't really fit, and that was why they did the testing when she was 5 I think? Her mother was subsequently tested as a result and it turns out she has the deletion as well but the "symptoms" don't really manifest in her. There's only a few dozen with the condition worldwide, it's crazy rare. She had to see a specialist in order to get the testing done, but it is possible is what I'm saying I guess. You just need to have the justification and I have no idea if repeated large nuchals would qualify. Possibly they might.

I would suggest something like 23andme which you could do yourself, but although that gives you the raw DNA data, it only "interprets" more common genetic issues I think, so unless you know exactly what to look for, it probably would not be much use.

It may well be there is a minor chromosomal issue but it doesn't actually manifest itself in any negative way aside from a high nuchal.

Original poster

5amisnotmorning · 23/08/2013 12:01

Thanks Crispy. I was thinking along the same lines and have the referral to Harris Birthright Cntre at Kings so will bring it up there to see if it is a possibility. It just seems too much of a co-incidence to have it happen twice although trawling through the boards this morning has shown that a couple of other people have been through this.

I am hoping that it's the latter and that nothing significant will manifest.

I have the harmony test booked now for tonight and appointment at kings next week. If the harmony is clear then will probably wait for the abnormalities scans unless something shows up before then.

I remember you from when we were going through this the first time round in 2010 and you were waiting for your amnio. Can't believe that we are back on these boards again!

OP posts:

missmapp · 23/08/2013 13:45

We didn't have any testing with Ds1 , but had an amnio with ds2 to be fully prepared- it came back clear- but the hosp then suggested a heart scan, which picked up his heart defect.

reading since, many heart defects can be linked to high nuchal, but, apart from an innocent murmur, ds1 is fine.

I remember how worrying it is,hope you manage to enjoy your pg.

CrispyFB · 25/08/2013 14:10

5am - I hope it is just "one of those things" for you as well! I replied to you too over on the Harmony thread but I don't know if you saw it

The Harris Birthright Centre is the best place to be (well, the FMC is the same after all) and if they can't help you I don't know who could! Something like this must surely be of interest to them?

Artijoke · 26/08/2013 07:19

I had high nuchal readings for DCs 2 and 3. Both seem fine. I went to the FMC who said there are no studies on it but anecdotally the doctors notice high nuchals can repeat within families.

With DC3 I had a 1 in 10 Downs risk and so went for Harmony which came back clear. I hope you get a similar result.

Original poster

5amisnotmorning · 26/08/2013 21:03

Thanks guys.

I had the nuchal repeated with detailed scan and bloods for harmony on Friday at fmc and just waiting for the appointment date for kings referral which if Wednesday will mean the same sonographer as at the fmc.

She was fab and as I explained that we wouldn't be having a cvs or amnio unless something came up on the scan or the harmony was positive, she spent 1.5 hours checking and double checking. We have nasal bone, all digits, no reverse flow - just high nuchal. Bloods are awful again as I have super high bhcg (again and awful morning sickness) and high Papp-a but I didn't realise that they take the relationship between these two instead of the absolute number so 1 in 17 risk from nuchal increased to 1 in 16 risk combined. Low for edwards and Pataus which makes me more comfortable given the harmony test lower confidence levels for those.

Just fingers crossed now For harmony results, then ECG's, then 20 week scan...

OP posts:

CrispyFB · 27/08/2013 11:39

When do you get your Harmony results, is it a week Friday? I have everything crossed for you. Sounds like you had a great sonographer - but in my experience they've all been great there. You know you are in very good hands, the very best. It is so nice to not feel you have to question or second guess anything you are told there (unlike most places ) as they actually produce the research I'd only go and look up afterwards anyway!

Fingers crossed for you indeed.. it does sound hopeful though!

Original poster

5amisnotmorning · 06/09/2013 12:42

Harmony results in and low risk for downs, Edwards and Pataus. Huge sigh of relief and now the wait to the 20 week scan..

OP posts:

CrispyFB · 06/09/2013 13:44

PHEW!!!! I am so pleased for you.. the relief must be overwhelming! I can't believe you had to "play" this game twice, it is so not fair!

Hoping very much your 20 week scan comes back fine and you just make babies with extra fluid in their necks!

Original poster

5amisnotmorning · 14/10/2013 15:05

Just to update the 20 weeks scan and heart scan looked ok except for slightly small nasal bone. Given the harmony results it's still low risk for downs though and we won't do the amino in the circumstances.

OP posts:

CrispyFB · 14/10/2013 18:40

That is good to hear! Perhaps baby just has a short nose. Actually I think DS had a fairly low down the percentiles nasal bone at that scan, and he has typical chromosomes. Put it this way, it's not Barry Manilow (nor did he inherit my father's nose which is similar!) but it looks perfectly normal.

Hope you have an uneventful rest of your pregnancy!

This time out my baby actually has a slightly raised nuchal fold too - 2.7mm so not quite as big as yours, but enough to trigger a cardiac scan as well. But Harmony is low risk despite a 1 in 5 (the bloodwork mostly but the NF did not help) so I have to have faith in that.

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