Need some advice re SIL scan results

[emsiewill]

I'm hoping that someone can give me some information so I can try and understand what's going on with my brother and SIL without having to bug them for details.

Here's the story. They went for their 12 week scan on Wednesday (at Kings in London, if that's relevant), when I emailed my db to ask him how it had gone, he said "it's likely there's a problem, we had a CVS, and will have the result next Thursday". Now, I've heard of CVS, but my last pregnancy was 5 years ago in South Wales, and things have obviously moved on since then. As I say, I don't really want to bug them for details, so I was hoping someone here would be able to tell me

a) what a CVS is, and what it's for
b) what problems would they detect at the scan that would lead to a CVS being done?

I'm thinking that they would have had a nuchal scan (is that what it's called), and that is why a CVS would be deemed necessary.

SIL is 37 (don't know if that's relevant, either).

Thanks in advance.

I had one of those when PG with DS2.
The test is used to detect chromozone(sorry spelling?) abnormalities. My consultant said that there were about 27 they look for most of which we would have never heard of. But the few she did tell us were Downs and Turners syndrome, Sorry they are the onlys one I can rememeber.

The actual test takes a sample of the placenta by passing a long needle through from your stomach into the uterus and so the placenta. I actually didn't feel muach pain from the procedure and it was all over withing a few minutes. I hope the same for your SIL.

IIRC the risk of miscarriage from the test is about 1-2%.

I hope this helps. Best wishes to you and your family.

as Emma ahs said - a cvs test will determine whether the baby has a chromosonal condition.

Possibly the 12 week scan included or was a nucal fold scan - used purely for Down's syndrome investigation.

If they find out their baby has down's syndrome and want to talk to someone - I have a dd with down's syndrome - now 18 months old. ( had my own Kings hospital experience - but for different reasons - my dd also has a congenital heart defect - picked up via ultrasound at 20 weeks) There are also other agencies or people they might like to speak to.

best wishes to your family - esp. b and sil.

the next ten days are going to be tough for b and sil.

They will go through every conceivable emotion and scenario whilst trying not to dwell on it..... been there done that - we needed to wait from being told at 20 weeks our dd had some sort of heart condition to knowing exactly what was going on.... and we did the why us, and then through a number of scenarios..... we did not tell anyone at first .... esp as sil was getting married and we did not want to upset anyone.

I think it is very sensitive and supportive that you want to try and find out more about what is going on for them. They may in the days to come also just need someone to listen and be there for them - whatever the outcome.

Actually, although the nuchal translucency risk statistics have been worked out specifically for Down's, a thick nuchal fold also has very high association with chromosone defects other than Down's (Turner's syndrome, long list of rarer conditions).

I was wondering about what the brother said "It's likely we have a problem". If that's based on nuchal fold and the other standard diagnostics they do at King's, it's not "likely"; not at age 37. The usual tests would only indicate a higher risk than usual, but not that the risk of a problem was greater than 50%. The worse stat I've heard King's College produce for anybody from their usual tests was still only 1 in 3 -- so that's a 67% chance the fetus is fine. BUT very severe chromosone defects, like Edwards' syndrome, may present as an abnormal-looking fetus (abnormal looking even to the lay person) as early as 12 weeks, which might make it more than 50% chance there was a problem.

I wonder if you shouldn't phone them, Emsiewill, I would want to talk about it if I was in their place.

Hmmm...don't know what to do. My db was emailing from work, so may have been trying to put things in a nutshell, hence he may have said "it's likely there's a problem", but not wanted / had time to go into all the stats etc.

I've got visitors here this week, so hard to find time/space to make a private call & can't work out from the email whether they want to talk about it or not. I don't even know if my dad knows - and if they haven't told him, I know it's not my place.

But thanks for all your advice - and eidsvoid, if necessary, I will pass on your offer.

Just to update, db and SIL have had all the results of the chromesone tests, and all is fine. They had a scan last week (16 weeks), and the "nuchal measurement" had decreased, which is apparently good. They have to have a detailed cardiac scan at 20 weeks, as this is another possible problem, but they seem to be saying that any potential cardiac problem will not be a major one.

So it's all good news so far. Will be glad once this baby's born, though, and all the worrying can stop.

Thanks all again for your advice.

Boy, this story reminds me why some people would just as soon not have any antenatal/screening tests at all.

Emsiewill, glad to hear that the news is good.
I found myself in a similar situation last October at the 12 week scan there was fluid and I went to another hospital for a CVS, my local hospital doesn't do them. In the end we waited and had an amnio as the fluid level seemed to be lower when we went along for the CVS.

My consultant mentioned Downs and Turners as the main chromosome disorders that they were looking for but in the end the results all came back clear, the chromosomes were fine. We were however sent to another hospital for a cardiac scan at 26 weeks as a precaution because they spotted golf balls in the heart(quite common apparently, they are white spots on the papillary muscles) but that detailed scan was good and the heart is fine. We were told that if there had been any problem with the baby's heart it wouldn't have been a major heart problem.
I'm now 32 weeks pregnant and counting.

Best of Luck to your Brother and his wife, I'm sure everything will work out fine for them and it's good to know that the dr's are being cautious and checking everything out now rather than waiting.

This is all a bit superfluous now that you know everything is OK, but I'll add my 2p as it may help someone else.

CVS is chorionic villus sampling. the chorionic villii are tiny little parts of the placenta which attach the whole thing to the wall of the womb. The cells in the villii have the same genetic makeup as the foetus, so will show up any concerns/abnormalities. The sampling is done the same way as an amniocentesis, except that it can be done earlier and the results come through quicker.

The scan would probably have been a nuchal fold scan, where they measure the small sac of fluid at the back of the neck of the foetus. The upper limit for the measurement of the nuchal fold is only for guidance. Above the set limit the hospital would probably have advised that a larger measurement doesn't necessarily mean there is a problem, but the only way to be sure is to have an invasive procedure, such as CVS.

The rate for miscarriage with an invasive procedure varies, depending on the method used. At Kings they would have done it using an ongoing ultrasound for complete accuracy, which brings the risk down to about .25%. Some hospitals used to take an ultrasound picture and use that. Obviously the baby could have moved, which is why there is an increased risk of miscarriage with that method. And of course it depends on the skill and experience of the doctor.

Can you tell I went through all this at one point? With DS2, I had a measurement which was above the preferred limit, so then proceeded with a CVS. The age question is simply that the risk of certain genetic disorders increases with age, so at 37 your SIL would have been at a greater theoretical risk of a genetic abnormality than, say, a 25 yo.

Sorry if I'm just telling you all something you already know.

Just seen this and glad to hear everything is okay

Just wanted to update you on this.

My sil gave birth to a perfect and very healthy baby girl 2 weeks ago today. She weighed in at 7lb13oz, and after a few days deliberation (while sil and dniece persuaded db), she has been named Florence - but she will be known as Flossie.

We went to see them last weekend, and they are all doing fine. All the trauma of the last year is now forgotten.

Lovely news

that is fabulous news

Lovely news!! Congratulations to you all!

What a great relief and lovely news, Emsiewill.