Looking for advice / reassurance

(19 Posts)
manchesterdadtobe Tue 02-Jul-13 09:35:36

Hi All,

My wife and I attended our 12 week scan last week and a high Nuchal fold measurement was taken at 3.9mm. Since then have received our risk at 1:75 for DS and decided against the CVS. Main reasons for this are we would definitely not end the pregnancy in case of DS (though I appreciate this is not the worst case scenario). The thing that disturbs me is that I (it took a little encouragement) convinced the second doctor to perform another nuchal scan. I did this because the first sonographer really struggled to get a good measurement and I am convinced most of the measurements she did take were 3.5mm and under. The hospital did agree that they do usually take the highest measurement as the one they use. The second sonographer took lots of readings and they all came in at exactly 3.5mm. Now I know that these things change over time but nobody can tell me what our risk would have been if we had taken this reading at the initial dating scan. 1:100? 1:500? Higher?

The one thing that concerns me above all else however is that the second doctor said that the statistics measured in the general population *(not taking into account age, weight, blod tests etc.) where the NS measurement is between 3.5 and 4.4mm (21.1% likelihood of chromosomal defect; 2.7% fetal death; 70% normal and healthy) in his words "supersedes the provided risk factor from the combined screening".

This has left me totally confused. For me, this is about balancing the risk of the invasive procedure against the risk of a defect and currently I do not know if our risk is 3:10, 1:75, or significantly lower than that even.

I feel like the NHS will not offer an honest opinion as they have probably been burned in the past from people taking them at their word and then playing the blame game when they are wrong.....

Any advice from someone who knows what they are talking about or has been through similar experiences is truly appreciated.

Thanks in advance.

mb2512cat Tue 02-Jul-13 10:43:40

Tbh, to a certain extent I would ignore the stats. There are ladies on here who had very high chances of their babies having something wrong but their babies turned out fine. It's a risk measure not a definitive diagnosis. It serves as a filter to identify those babies that might need more testing. In my own case for pg1 I had a high nuchal and we did a cvs which came back clear. But things got worse and we tfmr-ed at 20wks. For pg2, nuchal was perfect, but abnormalities spotted at 20wk scan. amino was clear. Abnormalities deteriorated and we tfmr-ed at 29wks. So there isn't much of a rule-book, at least in my case; I defied all the rules. The real question for you is do you want to do more testing or not? There's a new blood test that is replacing the cvs to diagnose t21 but it's private so far and not yet on the NHS. Do you want a referral to a bigger hospital with a state of the art fetal medicine unit? If you don't want any more testing then none of it matters really.

LemonPeculiarJones Tue 02-Jul-13 10:54:04

Hi manchesterdadtobe

I don't know if you would be interested in having private tests done, but if so you can have tests (relatively new) called Harmony tests, which carry absolutely no risk to your baby. They are highly sophisticated blood tests which can detect foetal DNA in the mother's blood.

We had the tests done in London at the Fetal Medical Centre. It cost a lot - nearly £600. That includes another, highly detailed scan as well as a repeat of the blood tests the NHS do, and the Harmony blood tests.

The Harmony
tests aren't diagnostic but damn near - 99% accuracy I think. They look for all abnormalities.

It's an amazing service (although incredibly expensive). Our odds went from worrying to 1:100,000!

I know from other threads that you can have the tests done in a few other places in the country. We went to the Fetal Medical Centre in London because we're fairly near.

I'll try to find a link to the other threads so you can read through to look for the other places, if you're interested (am sure there were a couple up North).

LemonPeculiarJones Tue 02-Jul-13 10:58:33

Actually there are quite a few threads, if you just do a Mumsnet search for Harmony tests you can have a look through if you're interested.

Good luck smile

manchesterdadtobe Tue 02-Jul-13 11:02:13

Thanks for this, I had no idea about the harmony tests. I will look into it.

manchesterdadtobe Tue 02-Jul-13 14:33:40

Thanks for the advice, I have decided to book a test here in Manchester and we are being seen tomorrow morning!!! smile

I will update this post with initial findings tomorrow and we should have some results (and hopefully some good news) in 2 weeks time.

I know it is a lot of money (£750) but I think it is worth it for the peace of mind.

LemonPeculiarJones Tue 02-Jul-13 14:58:59

That's brilliant! So glad you could get an appointment so quickly and so near to you smile

Good luck, look forward to your update. And we felt the same re the cost - worth it, absolutely.

manchesterdadtobe Wed 03-Jul-13 11:15:27

Quick update:

We had the scan and blood tests performed this morning. We used "thisismy" who have an office in Manchester. The lady was very professional and knowledgable and the results we received were really reassuring. We were shown far more than we had previously, including 4 heart chambers, the nasal bone, and we got to listen to the heart beat, which was awesome!! smile The photos we received were far better too!

We receive the DNA test results in 2 weeks but we are already pretty reassured that everything looks perfectly fine!!

I know it is an expensive service but I am so glad we decided to do this, I will sleep much easier now and my wife and I can begin to enjoy the pregnancy rather than worrying all the time.

We were also given an "educated guess" on the gender based on "nub theory".....awesome! smile

Thanks LemonPeculiarJones for the advice.....really made a big difference!

LemonPeculiarJones Thu 04-Jul-13 16:28:13

That's fantastic news smile It's so amazing that this service is out there, isn't it! So pleased for you.

We were the same - really reassured by the scan before even getting our harmony results back. Hooray!

The hope is that these tests will be a part of the NHS service in a year or two. Would be so great if they were readily available because they help so much.

manchesterdadtobe Tue 09-Jul-13 11:22:24

Yeah, couldn't agree more. I am still really annoyed however that nobody we met in the health service (we met lots of people!) even mentioned this test existed. They were absolutely ready (and seemed keen) to stick a needle in my wife even though they were surely aware that a safer alternative exists.

I realise they can't endorse it as yet and certainly can't provide it for free right now, but surely it is their responsibility to let individuals in this situation know all of their options?

I am just glad that the people on here are so willing to help. Otherwise we would have risked the life of our (hopefully perfectly healthy) unborn child with an un-necessary CVS! Gives me rage when I think about it even a week after the event.

angry

manchesterdadtobe Mon 15-Jul-13 17:12:39

JUST RECEIVED SOME GREAT NEWS!

Our Harmony test results are in and we are low risk (1/10000) for T13, T18, and T21. We also found out we are having a little boy! Over the moon. Honestly couldn't recommend this test to anybody else in the same position we were in. We can really enjoy the pregnancy now and get on with preparing for baby's arrival!

grin

manchesterdadtobe Mon 15-Jul-13 17:20:11

EDIT: **honestly couldn't recommend this test enough****!!!

LemonPeculiarJones Mon 15-Jul-13 20:29:31

Hooray!!!

It's such a brilliant feeling isn't it grin

Huge congratulations to you and your wife about your forthcoming baby boy!

manchesterdadtobe Tue 16-Jul-13 10:04:32

It is indeed a wonderful feeling. The champagne did flow last night!

Thanks for your advice, you have made a huge difference!

lovelilies Tue 16-Jul-13 14:03:08

Christ I wish this was more well known... ive just had a CVS today, but would much rather have had the harmony test!angry
They should tell you about these. So unfair. sad

LemonPeculiarJones Fri 19-Jul-13 08:42:30

That is very unfair lovelilies sad You would have thought that health care professionals would be aware of all the possibilities and ready to pass that knowledge on.

I only heard about the harmony tests because I called the ARC helpline. The NHS midwives didn't mention it at all, not even the specialist midwife there to receive calls about ante natal test results.

It is very new though. Hopefully more and more people will be aware of this option as time goes on.

Wishing you lots of luck with your results flowers

lovelilies Fri 19-Jul-13 12:38:03

Got the results- baby is ok grin grin
Thanks for the reply!!

LemonPeculiarJones Fri 19-Jul-13 12:59:15

Oh that's fantastic!

manchesterdadtobe Mon 22-Jul-13 12:36:26

Thats great news lovelilies. Glad everything worked out for you. You're right though, someone should have informed you there was another option.

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