Down Syndrome Testing

[sususudio]

Hi,

My partner and I have just been to Kings for 12 week scan.

Due to the amount of liquid on the baby's spine, Kings have advised that the baby is high risk for Down Syndrome and has a 1 in 85 chance of being born with Downs.

The Downs testing also carries a risk with 1 to 2% chance of miscarriage depending on which testing is undertaken, be it CVS or Amniocentesis.

I know that the decision is ultimately ours (more my partners) BUT has anyone been through this situation? Which test did you take and why? Did you take the tests at all? If not then what were your reasons for not taking it.

We have discussed this all day and thought about all scenarios and permutations but there maybe other considerations that we have missed.

Appreciate any helpful input.

[adrianamirica]

hi,

i have a friend how done amniocentesis because her baby was at high risk....she and the baby was fine ....she is the same age as my daughter ...14 months...

[daizie]

My sister was told the same and had a CVS after a nuchal translucency scan showed some possible abmormalities at Kings. I was with her and it was very uncomfortable but bearable. The result was that she went from 1 in 85 to 1 in 200 there abouts. She was worried out of her mind and hated every minute of pregnancy. The baby was born fine, so i really wouldnt worry too much if you can help it :)

[intexasatthe moment]

Think the risk of miscarriage is very low ,personally I felt that I had to know if my child was to be Downs and was prepared to take this risk.

Kings has so much experience in this area and this did give me confidence .

I had CVS ( older mother ,high risk ) didn't find it all uncomfortable .

[Smiler]

There is discussion about this on bigger sites like Baby and Bump, Mumsnet etc if you're after people's experiences.

Think that the miscarriage risk is lower if the test is done somewhere where they perform lots of the procedures and by an experienced doctor: might be worth asking what the miscarriage rate is for tests done at Kings.

Guess it partly depends on what you think you would do if the baby did have Down syndrome.There were recently lots of in-depth articles about this in the press 'cos of a survey where a high proportion of people said that they would go for a termination.

[dan4courtz]

Hi there,

We have just had this happen to us. I was told that i had a 1 in 44 chance of a downs baby. Worried me silly as i am sure you have been experiencing too.

They offered me the tests, but we said no. The tests would not change the outcome for us, we would still have the little one anyway so await meeting the little one to have it confirmed or denied.

But our 2o week scan reduced the risk by double, so now we are at 1 in 88.

Kings told me that the risk of a miscarriage with the tests they were offering was one in 100.

Guess because we were clear that we would have the baby either way, the risk factor caused a lot of stress but helped us decide whether to have the tests or not.

Good luck with making the decision, it is such a personal one, and i hope the pregnancy keeps on going well.

[nunheadmum]

My understanding at Kings was that with CVS the risk is almost totally related to the experience of the person performing the test. Ours was done under the very close supervision of the consultant.

We didn't do it with no1 but with no2 we thought that, as older parents, if we had a Downs child, as we got older a lot of the responsibility for their care would fall to the older sibling who would still be relatively young themselves. It seemed just a bit unfair to risk that for someone who had no say in it. Thankfully we didn't have that decision to make in the end as we were given the all clear after the test.

If you do take the test - make sure the results are included in your notes. Ours weren't and after discharging us one of the midwifes noted that she thought our baby had 'some Downs features' and we had to go through another blood test to confirm that all was well. Although we knew all was ok, it wasn't nice to have the doubts raised again just as you should have been celebrating!

[sususudio]

Interesting reading from you all thank you very much!

Nunheadmum - could you perhaps Private Message me the name of the Consultant you refer to at Kings please?

In the scan it was also highlighted that the baby has a fairly hefty piece of nasal bone and from many articles I have found in the internet it looks as if this can give an indication that the baby is not Downs as a high majority have little or no nasal bone at 12 weeks. Unfortunately these articles date somewhat and perhaps indicate the stats to be outdated and unproven.

I think we are heading towards having one of the tests but which one we are not sure.

dan4courtz - best of luck!

[EDmummy]

Sususudio, my thoughts are with you at this scary time. Being a late mum twice, to me it did not matter to if our child had Downs or not and that either way we would go ahead with the pregnancy. This is not a decision all parents are able to make but it may be a starting point for discussing the choice with your partner. If you feel that you would go ahead with the pregnancy even if the CSV came back positive then perhaps you may feel that there is no point in the test.

I want to wish you all the best, whatever decision you take.

[ClareC]

Hiya,

Can't really add much to what has already been said, other than to say that my partner and I based the decision around whether we would want to continue with the pregnancy should the baby be downs. Fortunately we both decided that we would so we went into the nuchal scan knowing that regardless of the results we would not have further tests given the risks involved.

I appreciate it is not pleasant, and quite a shock being told you are high risk, however 1 in 85 is in reality still pretty low - 84 more times likely the baby is fine.

Good luck, hope it all works out for you

[nikki73]

hi susudio

i had 1/37 chance and opted for cvs.

i did some research before deciding what to do - happy to share it with you - have pm'd you my number (small baby so not much time to write!)

i also spoke to a charity specialising in ante natal testing: they were fab http://www.arc-uk.org

there's a consultant at kings who is supposed to be very good - greek name - he developed the screening.

i was a t tommys and the consultant there was great.

the idea of the cvs was a lot scarier than having it done - it's over in seconds and to me less uncomfortable than a smear.

[Cora]

We decided to go for CVS as 1/44 high risk - It was uncomfortable but the needle only takes cells from the placenta which was a relief as I thought they would have to get closer to the baby. I felt there was really no added risk to the baby as the staff at kings are so experienced (there are many other factors that can cause a miscarriage anyway). My feeling was that once I knew I was high risk I needed to know and not spend the next 6months speculating/worrying. Waiting a week for the results was hard enough!

My understanding is that the nasal bone is a good sign that Downs is less likely. Just before have the CVS we had to have a more detailed scan which I found very hard knowing that there could be problems - the sonographer was amazing - putting the risk in context, pointing out that in some other countries cvs's are routine and reminding me that this is just a screening test - Kings do hundreds of these tests and only get a few back as positive each week. He reassured me to deal with each step at a time.

Once we were cleared for Downs we got a follow-up cardiac scan which checked for any connection with the nuchal measurement to obvious cardiac problems. Again this was really reassuring. We are so lucky to have such expertise at our local hospital......obviously we've got plenty of other things to worry about though.....like coping with another baby!!

[intexasatthe moment]

Nikki - I guess you're thinking of the excellent Prof. Kypros Nicolaides.

[Sanne Panne]

I also heard great things about Dr Nikolaides (not that he's necessarily nice but he's supposed to be very good). You can always consider going down the private path if you want to be guaranteed a consultant or professor to carry out the procedure. Good luck with the decision!

[scotlass]

Hi sususudio,

When I was 14 weeks pregnant I was told that I had a 1 in 18 chance of a downs baby. These statistics terrified me and I needed to know one way or the other. My husband and I decided to proceed with the amniocentesis. It was a little uncomfortable but not too painful.

I now have a healthy 2 year old but will never forget what i went through.

I really empathise with you and hope that everything works out for you. Please pm me if you'd like to talk x

[nunheadmum]

Hi Sususudio. I don't know the name of the consultant off hand as we didn't really have any interaction with him other than his presence at the test. I'll see if I can find the paperwork from the test and post the name if it gives it.

[sian]

HI hope the advice so far helps. Had CVS for our third when I was 38. Risk was something like 1 in 12? I had CVS for two reasons. We have other children and felt that the whole family would be affected so we needed to know. I would have proceeded with the pregnancy but thought that also if the test was positive for downs it would have given us time to find out if there were other medical complications e.g. heart and have time to get specialist support lined up. I rested completely for a few days and Kings called me very late on a Friday night to let me know that the test was fine rather than have us wait and worry over the weekend . Another of the many reasons to be grateful for the NHS. ..

[hanstands]

We had the 12 week scan. They then told us there was a 1 in 22 chance of our baby having Downs. We decided against the invasive testing as we would have had the baby either way. What also really convinced me not to have the testing was that if the baby did miscarry due to the testing [2 in 100 chance which seems quite a high risk to me] I would have really suffered knowing that my choice to have the test brought this about. I would've found it very hard to forgive myself. Baby didn;t have Downs.

[EmmaG]

ClareC said it all with regards to the decision we took regarding the invasive tests. However, a friend subsequently said that Kings have never had a miscarriage through amniocentecis or CVS because they're such a brilliant centre of excellence of foetal medicine and are very experienced at doing the tests. I guess many, many people get referred from elsewhere.

By the way, another friend (who lives in East London) was told she had a 1 in 40ish chance of a baby with chromosomal abnormality so she went to see Kypros Nicolaides (the King's specialist) at his Harley St clinic for a 4D scan and that it was very reassuring. Their baby was born with no abnormalities whatsoever despite the high risk. The tests aren't infallible.

I don't know whether that helps you make the decision but best of luck and my thoughts are with you.

[jeh]

We had a 1 in 3 risk, and decided to have a CVS because we felt we needed to prepare - they told us that if all went well with the second scan they could only reduce the risk to 1 in 6. So rather than go through the pregnancy with such a high risk and not knowing what to expect, we decided to find out - it came back negative and I'm due in a few weeks.

I had previously been adamant that I'd never have an invasive test due to the risk of miscarriage, but its not until you're in that siutation that you can decide. We were also told - just before they did the test - that the miscarriage risk is only during the few minutes that the procedure takes.

[sususudio]

Congratulations Jeh! And to all the others for good news stories.

Last week we went to Prof Nicolaides private practice in Harley St, which I have to say was an amazingly calm and tranquil experience. The money spent was well worth it.

I felt compelled to tell the Prof that we were there because one of his scanning practitioners at Kings was next to useless and should not be doing such procedures if he cannot relay the proper information in English (which in truth had probably exasperated the situation for us).

Anyway to cut a long story short we did the scan with the Prof and had a great conversation with him that made it very easy to decide what we should do. Did the CVS test and were told the results would be phoned through today.

Results are negative for Downs and CF.

I have thought a lot about the "what if" since the test last week and if the result had gone the other way. Quite honestly my brain is still in a funny state. I keep writing a few more sentences here but removing them - this isn't a drawing room discussion on rights to keep/terminate. I do however feel some guilt for doing this test and what decisions could have been put in front of us to make. I do know it was the right thing for us to do but not necessarily for everyone to.

Thanks for all your input it really did help.

[Ann]

Great news Susudio, your post was poignant and honest.

I was first pregnant in 1993 when none of those tests were available so we never had those dilemmas but I can fully appreciate it's not any easy decision for anyone.

You did what was right for you so here's to pleasant and uneventful pregnancy!

Best wishes,

Ann

[Pickle]

That's great news Sususudio, I hope you enjoy a stress-free pregnancy from now on.

[Sanne Panne]

So happy the results were good! And no wonder your outlook on keeping/terminating etc has changed (or your real outlook on things has been "revealed" to you) because of all these major emotions.

[dan4courtz]

Sususudio,

I am so glad for you that you have peace of mind now, i know how it plays with you.

Hope the rest of the pregnancy goes smoothly for you guys.