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First Scan reveals high risk of Down's

52 replies

N1SEXYTING · 12/08/2006 15:13

I went for my first ultrasound yesterday and the nuchal test revealed that I have 1:15 chance of having a baby with downs (it's usually 1:300 for women my age - 24)

They want me to come back and do another diagnostic test before i'm 14 weeks which is in 2 weeks time.

Is there anyone else experiencing this or have had similar experience

OP posts:
CountessDracula · 12/08/2006 15:15

Thomcat should be able to help you (among many others) Not sure she has access from home though

jabberwocky · 12/08/2006 15:18

They will probably ask you if you want to have an anmio. This test makes people quite nervous, but I have had two and both went fine. I found that I didn't want to watch the needle go in either time, but it didn't hurt at all. The first one was a bit uncomfortable and I had some cramping afterward, the second one didn't bother me at all. I think it makes a difference as to how fast they draw out the fluid (slower is better) but that is just my own personal theory.

HTH and good luck

N1SEXYTING · 12/08/2006 15:23

Yes I read about the amino and the CVS and it sounds like its the CVS they want me to have.

@Jabber can I ask why you had to have 2 tests and how long before you got the results and if its not terribly rude what your results were?

OP posts:
jabberwocky · 12/08/2006 15:36

Oh, sorry, I guess that wasn't clear. I had one with each pregnancy because of my age. The first one I got results back in about a week. With this pregnancy I found out about the FISH scan so requested that and got preliminary results in 2 days with full test results in 2 weeks. It just depends on how fast the cells culture as to when you get the full results. Both times results have come back normal. As far as I know, CVS is generally recommended at 9-10 weeks for optimal results and amnio at 16 weeks. Sounds like you're in kind of an in-between spot so not sure which way you're going to want to go, but a genetic counsellor would be helpful.

NAB3 · 12/08/2006 15:52

It depends what you will do with the info as to whether you should have the test. If you would have the baby regardless, why risk a miscarriage? If you would terminate if the baby did have Down's then you would have to have the test to be sure but then you could miscarry a healthy baby. Amnios are risky and it all depends what scenario you could live with the most.
We refused all tests with all our children but told the sonographer at our 3rd child's 20 weeks scan that if the child had a visual problem then we wanted to know. He had asked me why I hadn't had any tests prior to that day. He had 2 markers which pointed to possible Edward's Syndrome. We refused all further tests but did have a couple more scans. TBH We just wanted to see the baby again but the hospital wanted to kepp an eye on him but we would have had the baby whatever the problem.
Good luck with whatever you decide.

Imafairy · 12/08/2006 16:40

N1 - with my second pregnancy I was given a high risk result, and had a CVS. I didn't find the procedure itself painful, but waiting for the results was agonising. As NAB3 says, I think it's really important to think about what the test and the test result will mean to you. Before I had the CVS I had decided that if it came back positive for Downs I would terminate, but then after a day or two of waiting for the results I was in a real quandry and honestly don't know what I would have done. Results came back clear, which certainly put my mind at rest.

Am not too sure that will help you, but just wanted to let you know that there are a lot of us who know what you're going through, and to wish you all the best with whatever you decide.

Jimjams2 · 12/08/2006 16:46

Also worth remembering you don't always get a clear result. A friend had cvs in the same circumstances as you- the results came back as XXY mosaic which means that some cells were normal and some had an XXY rather than XY. What they said they couldn't tell was whether the affected cells were in the baby (which could cause sterility) or the placenta- which would cause nothing...... Actually I might have remembered the details wrong as i remember thinking some of it didn;t make sense- bu anyway they were told they would need to test the baby at birth to know for sure. Obviously something like sterility is less of a concern than DS. However there can be cases of mosaic DS and so you could end up with a confusing decision then.

This is fairly unusual, but just a warning that even with cvs/amnio you don't always get a complete answer iyswim. I personally think its worth asking for counselling before testing to go through all this, but often there isn't the time.

Jimjams2 · 12/08/2006 16:48

oh and should mention the problem with mosaic DS is that it can be very hard to know how affected a child would be. Sometimes the learning difficulites in cases of mosaic Downs can be mild. Just adds an extra dimension.

Did you get offered counselling?

castlesintheair · 12/08/2006 17:16

I was 1:30 with my 1st and got a slightly lower risk each time with 2nd & 3rd. Did they do the blood test as well? With mine, the high risk was due to the "dodgy" biochemistry - sometimes the hormones we produce when pregnant make the risk higher than normal. I had CVS at The Fetal Medicine Centre in London, pricey but worth it for me as I was a nervous wreck the 1st time and got the results back in 2 days. Also, Professor Nicolaides (who came up with CVS and is the leading expert in this field) does the procedure for you and tells you there and then that you won't miscarry (once he's done it).
Sorry to ramble on. Don't worry too much I am sure given your age you will be fine. Come back if you need more advice.

castlesintheair · 12/08/2006 17:17

Doh! Meant to add all 3 results came back negative.

NAB3 · 12/08/2006 17:20

I would ring the ante natal results helpline. I found them really lovely and reassuring. We knew what we would do but I wanted someone to talk it over with.

Blu · 12/08/2006 18:11

It's a difficult time if anything shows up on a scan - I have been through it, and I really sympathise. I think counselling is a good idea. What area of the country are you in, N1?

Amnio has a risk of miscarriage of between 1:100 and 1:200 - often less because the sonography equipment enables them to see what they are doing so much better.

You could also spend some time before the next visit researching what it can mean for a baby / child / adult with Down's - that might help you decide whether you would go ahead with the pregnancy or not - look at posts in SN and member profiles from Thomcat, or google for different explanations and points of view.

jabberwocky · 12/08/2006 18:34

The recommendation that I have always followed is: Go with testing if your risk of miscarriage from the test is less than your risk of having a child with a genetic defect. Of course, it is still a very personal decision. Some people who have the test do so even though they would not terminate but want to have time to prepare themselves for a child that will have issues. Others would prefer to just wait and see. Take some time (as much as you can at this point anyway) to try to decide how you will handle the next several months.

MarvellouslyMilitantPeachy · 12/08/2006 18:43

I had a high bloods result with DS3 (Not Downs). It was a hard time- pressure to accept amnio, which I chose not to as there was no way that I personally could terminate. I kept gettingc alls from MW's with pressure, and I even had a leaflet entitled 'your baby has downs' posted to me .

We did actually go for Amnio; we didn't want to but cracked. At the appointment the nurse counsellor was excellent. we explained that we would not agree to a termination under any circumstances,and that we had agreed purely so we cold prepare. She talked about the risks and we must have clearly looked worried, as she left us for a minut- at which point iirc we did a rapid bunk LOL!

It was a worrying PG in that we didn't quite know the outcome but eprsonally I am glad we took the route we did. Also, havng 'protected' my baby I felt very close indded to him.

I think it's very much an individual path. I would certainly advise you to accept any non-invasive procedures youa re offered, but think carefully about invasive, and go with whatever is right for you and your partner (if you have one- you're new I think?)

get in touch woth the Downs Syndrome Society (Dingle does some work for them fundraising, maybe out a thread titled Dingle, Eidsfold or Thomcat? I willa lert Eidsvold to this thread for you

I wish you luck and hugs

geekgrrl · 12/08/2006 19:08

I have a dd with DS - she's 5 now, I was 24 when she was born. I'd refused all antenatal tests other than a 20wk scan so we didn't know.

The DSA do a leaflet on antenatal testing and a separate one for parents with a prenatal diagnosis. I can't find them on their website right now (used to be on there, I'll look a bit further). They're very nice on the phone and will give you balanced advice or just send you the leaflet if you like.

Having a child with DS is not a disaster or a tragedy, it's just different really. We were very upset at first but life really is so normal now. Our children are our children, they're a little gang and I don't actually think about dd2's DS all that much most of the time now.

geekgrrl · 12/08/2006 19:11

found it!
Antenatal testing leaflet

SittingBull · 12/08/2006 19:12

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SittingBull · 12/08/2006 19:15

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lilmamma · 12/08/2006 20:30

I was at high risk,with my 4th child,as i was 35.I know the older you are,the higher the risk,but at any age,someone has to be the 1 in whatever number.I had the animo,think thats how you spelt it.I wouldnt have got rid,but just needed to know as we had 3 other children plus 2 step children to consider.The procedure was more or less painless,we saw the baby on the scan and watched the needle,the nurse held one hand and my hubby the other,after the nurse told me i was really good,had a rest then advised to go home and go to bed,i stayed in bed 3 days too frightend to move,in the end i decided if i was going to miscarry i would whether i was in bed or not,day four mowed the lawn and got on with it,was reliveved when letter came saying all clear,the scarey thing was on the way home after the test,i saw three young adults all with downs,and thought it was an omen..just go with whatever you think is right for you,my sister in law thought i was awful having the test done,but it wouldnt have been her bringing up a disabled child for the rest of her life,that really annoyed me,as it is a personal choice for the couple,not other people trying to put their views on you goodluck whatever you decide to do

fatfox · 12/08/2006 20:31

N1 - try not to worry too much, as the majority of high risk results are false positives. I would also recomend you contact the Fetal Medicine Centre (the number I have is slightly different: 0207-486-0476 for appointments). They do a test which is 97% accurate and you get the results on the spot. It is non invasive (nuchal, nasal bone, bloods, heart valves etc) so no risk to your baby whatsever. It costs £150 by the way, bur worth it for peace of mind. If you get a high risk result you can opt for a CVS, which can be done 11-14 weeks, and the FMC can give you the results for Downs within two days, so you will get a definite result very soon.

The CVS has a 1% risk of miscarriage, but I reckon the FMC is the safest place to go as they are at the forefront of the new technology in this field. The problem with an amnio is you have to wait until 16 weeks and the results take much longer to come back, meaning you have to wait longer to see if your baby is OK and if you did decide to terminate, you would have to be induced and go through labour, as the cut off point for a surgical termination is 14 weeks.

Good luck N1, my thoughts are with you - let us know what you decide to do.

ps why not have a look on

N1SEXYTING · 12/08/2006 20:51

Wow, I came back and there was so many responses, thanks guys its been really helpful reading these diff advices.

I have worked with children with special needs for about 3 years and have always felt in this situation I would not have a termination because these children are still precious. But obvioulsy my involvement as been only for a few hours and then the go home to their parents whereas in this situation i would be the parent and it looks like a single one at that.

I live in North London and my hospital is the Royal free but i will definately contact the Fetal Medicine foundation as I especially like the fact that I would get the results in 2 days as I'm not very good with waiting.

I want to do the test as I would like to know either way even if I'm going to keep the baby so I can start preparing myself. Also they said that there's also a small risk that the baby might have some heart problems and that scares me more than DS to be honest.

I want to ring the antenatal helpline but have to wait until monday. The worst thing is I'm starting my new job on Mon and if I'm going to be going for all these testing then I need to tell them I'm pregnant soon as whilst I was going to wait a while.

Its all so just a bit too much but I'm staying positive and just not hoping for anything

OP posts:
N1SEXYTING · 12/08/2006 20:58

The other thing that worries me is if after they do the CVS and there's a failure for the lab to obtain a result. That would really p** me off!

OP posts:
Jimjams2 · 12/08/2006 22:17

Do you have any support in real life?? (just because you mention being a single parent possibly). Is there anyone who can go with you to the appointments? They can be hard work.

The result after 2 days will be specifically for DS, the later result will rule out other conditions as well- worth being aware of that (it caught out the friend's I mentioned below).

Good luck!

Blu · 12/08/2006 22:25

Can you get referred to the Harris birthright Centre in King's (S London)? Prof Nicolaides outfit - and would save you £150.

Waiting is just unbearable, I know.

How do you mean, it looks as if you might be single? Is the result of your scan causing problems - or that's just how it is? I do agree with taking a close friend or family member if not a partner.

Imafairy · 12/08/2006 22:34

N1 - just saw your latest message re potential heart defect - I was told that too after the CVS as bubba had a very thick nuchal. Had a rescan at 24 weeks and all was clear again, TG, and now have a wonderfully healthy lovely twelve week old DS.
FMC is great - if we go for #3 we're just going to book straight into the FMC for tests from the offset.

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