Downs syndrome test?

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What are you views about the test? Will you be or have your had it and how do you / did you deal with the results.

DP wants me to have it and abort if the baby has DS but I'm not so sure

We had a high nt of 7.4mm and the hospital told us they would have informed us and referred without the downs screening consent. As this can be a sign of other problems.

We went to have CVS and baby had died( approx 13+2). Found out later risk was 1:2.

Had medical management at 14 weeks. PM showed baby girl did have DS. We would have terminated.

Don't know if this helps - hope so.

Forgot. They don't know how many babys would MC anyway or howmany are caused by invasive testing. If our timing had been different we could have been looking at caused by CVS or never known about the MMC etc

Our hospital specifically ask that you don't take older children to 20 week scans. Having also had a devastating one at that point it would have been even worse for my daughter to have seem me like that.

Judging by a lot of the behaviour in the waiting room many people seem to assume it's just to find out the sex and not realise it is actually looking for anomalies.

I had an OSCAR and then a CVS for DS2, I would have terminated if he had shown to have any abnormalities.

I wouldnt have the test and I wouldnt abort but thats me. I think I would be asking my DH how he would cope with a disabled child because ruling out DS does not rule out disability.

In my opinion it is a very different thing to be presented with a surviving full term baby with disabilities than to be told at 12 weeks gestation that your baby, should it survive pregnancy, will be disabled. You can't change the former situation so I'd imagine most people just grit their teeth, come to terms with the shock and then get on with it.

catsareevil...It doesn't sound logical, I agree, but yes, definitely makes sense.

First pregnancy with DS1, we didn't have the screening because we wouldn't terminate under any circumstances and wouldn't run the risk of miscarriage with CVS/amnio.

Second pregnancy with DD1, I knew something was wrong and so we did ask for the NT screening. Again, we knew we wouldn't terminate or have amnios etc, but we felt it was better to know to make better plans for monitoring and delivery etc.

Our baby had an NT of 11.6mm and hydrops, probably due to Turner's. We were told that she would not survive and were offered termination. I am so glad that we refused this and continued to carry her until she died in the womb at 18 weeks. It was hard but it was not up to me when her life should end and my job was to keep her safe and cosy in my womb until that time.

Our decisions in future pregnancies will be exactly the same.

I completely respect every woman and family's right to make the decision that is best for them.

In my first pregnancy we refused testing because we believed we would never end a pregnancy. After three healthy daughters I never dreamed that I would one say be told at my 20 week scan that my baby had a condition incompatible with life. Our daughter was born at 24 weeks and while it was our choice to deliver her at this time I can understand why some would end their pregnancies earlier and others later.

Eggletina I was one of those mums who knew the 20 wk scan looked for abnormalities but never dreamed any would be found. The biggest discussion dh and I had beforehand was whether or not to find out if baby was a boy or a girl!

I went ahead with the combined test (bloods and nuchal) without even considering what it might entail! Oh the naivety. I'm a first timer and just went along with what my MW booked for me. Anyway I was knocked sideways just before Christmas when I got a call to say I was high risk for chromosomal abnormalities (1:42), much higher than the 1:370 background risk for my age. I got through the rest of the day at work in a daze and then collapsed sobbing onto my equally shocked DP when I got home. He already has two DC with his exW and they were much younger and the odds were tiny. I think he expected this to be the same.
Anyhow we went back to see a consultant who said we could do nothing and just wait and see, or go for CVS there and then at 13+6 or wait and have amnio at 16+2. We went off for a coffee to try and make sense of it all and chose to have amnio mainly because slightly less risk of miscarriage and the fact that I just hadn't had time to get my head around the CVS.
I had the amnio yesterday and even though I was terrified ( of the results and I have a significant needle phobia!!) it really was okay, not something I'd do for fun but dental injections are 100x worse than the amnio. My big tip is don't look and take someone with you to hold your hand. My DP was brilliant . It was lovely to see my baby again on the scan, even if due to less than desirable circumstances.
We aren't completely sure what we will do if it is bad news but felt that we would want time to prepare if we did decide to go ahead with an affected pregnancy and obviously if decided to terminate we would rather sooner than later as it is too late have a surgical termination.
I just wanted to share my experience in case it can help anyone else.
I'm now praying hard for good news later this week and taking it very easy for a few days. I haven't had any pain following the amnio which has also been a relief.

i've read recently that the risk is the same for CVS and amnio. A huge study concluded that in 2006, I think lots of pregnancy books are out of date with that info. Fetal medicine state same risks for both.

oh sorry forgot to add , good luck amethystMoon, hope the results come back clear for you.

I think you might be right black cat. The difference was tiny 1 - 0.5% for amnio and 1 - 1.5% for CVS. And it seems to vary depending on who you speak to or what you read. I think the best bet is to ask what the rate is at the place you are attending or for the consultant's own rate.

Thanks blackcat, I am trying sooooo hard to relax but easier said than done....am shamefully comfort eating my way through the wait

Results came back all clear today, but am still very glad I had the test as we just wanted to know.

great news AmethystMoon hope you can relax and start enjoying being pregnant now!

Thanks blackcat :)

Whether or not to have tests and what to do with the results is each individual families choice and theirs alone. I have no interest in entering into a debate on what is right/wrong. The choices I made were right for me and my family and this is our story:

I am on pregnancy number 3 and have had the non-invasive screens with all three pregnancies.

My second pregnancy came back as "high risk" we opted not to have further invasive testing and my 2nd daughter has Down's syndrome (Trisomy 21).

I would like to clear up an incorrect comment earlier that states most babies with T21 are very poorly. This is not the case. Heart defects are common (in about 50% of cases) but only half of those born with heart defects will need an operation to fix the defect and these operations are very successful in the vast majority of cases.

www.futureofdowns.com/i-see-seren-not-downs-syndrome/

Please contact the Down's Heart Group charity if you have any more questions about heart problems in children / babies with Down's syndrome. www.dhg.org.uk/

Also, please refer to the website www.futureofdowns.com if you need directing to any other charities or groups who can FACTUALLY answer your questions. Future of Down's is a good one as it is run by parents for parents.

Why is he asking? Are you high risk? Has he a relative with Downs? How faar along are you?

I had a positive result last year after a nuchal fold of 5.8mm was spotted during a routine 12 week scan. Here is how I made up my mind to have a CVS and following termination;

1. How would we as a couple cope?
2. I have 2 sisters with learning difficulties, I have will be their guardian when my dad goes (he has cancer) - I also have an insight into the pressures of learning difficulties and downs, some women can cope.
3. In the event of my death, who in the family could I ask to step in and care for them on what would be a long term basis?
4. How would I and the child cope with prejudices faced within society?
5. How would I feel if I knew the child (after my death) ended up in a 'home' (with no one to love he/she?
6. It is rarely as simple as just having Downs, there are often other health factors such as heart conditions etc. These may need surgery etc. How could you cope with hospital trips?
7. How would a Downs child/person effect it's sibling? And it DOES! I know. The sibling would always have some form of responsibility when older.

I was told that statistically, the odds for losing a child at the same stage as amnio or CVS are pretty much the same as if they were caused by the proceedure - no one is 100% certain that the 1% chance of miscarriage in CVS or amnio is due to them, or would have happened anyway. It's a risk, I took it twice and was happy to do so.

I also think that women should consider the feelings of the father, as well as the father considering the feelings and choices of the mother.

It is also, in many cases not as easy as popping along for a quick abortion. You need to speak to the midwife as she would have seen this before, more times than you can imagine - she will also be very well informed.

Hope this helps xx

P.s. On your journey, whether you have the tests or not, whether you have a t21 positive result etc, you will hear folk say "I couldnt' get rid of it" - I respect that opinion from women who have been in the position themselves and have carried on, but for those who have never had to go through it, let me say that it is incredibly easy to say, but heartbreaking to face up to when you do. It's very hard to hear from others when you have been through it. I always THOUGHT i couldnt' terminate, but never said so publicly - god it's a hard choice xx

Hi, I am just deciding what testing I want to do. adiVic your comments really helped me. I'm having a pretty miserable first trimester. I could cope with the nausea, but the worry is what's really messing with me. I want as much testing as possible...

My younger brother has Downs. My mum didn't do any testing as she'd had a previous mc. I adore my brother (no heart problems for those who are interested), but I don't want the life my mum's had.

Haven't told my mum I'm pg yet. I kind of want to know everything's ok first.

I didnt have NT testing with either of my pregnancies, purely because I did not want to make that choice. I figured that whether the baby had a chromosomal disorder or not severe abnormalities incompatible with life would be likely to show on a scan.

In addition, the NT test has a false positive result of 1 in 20 so 5% of women are worried half to death unnecessarily. It also only detects 75% of cases (although some private centres I believe are higher).

Of course it is true that some babies with downs syndrome are poorly but so are some chromosomally normal babies. I have a friend whose DS1 very sadly died of a heart condition, he didnt have Downs. My mum has spent more time with people who have Downs syndrome than anyone I know and she is really pretty positive about the lives people can lead.

I would never judge anyone for the decisions that they make. It does surprise me though that the vast majority of people have the testing without really thinking about it. Of course it is all easy for me to say because luckily neither of my babies had a chromosomal disorder.

Hi, the hospital has just rang and told me I am high risk at having a downs baby. I have a 1 in 94 chance. The neck measurement was normal on Friday at 1.9mm but the bloods have confirmed I am high risk. I am getting that procedure on Wednesday, amniocentesis to know 100%. I'm 29, it's my first pregnancy but the way I have interpreted everything the hospital midwife told me was as though it's a forgone conclusion. I can't stop crying and although Wednesday isn't far away it seems like a lifetime right now. I know there's a 1 per cent of miscarriage but I can accept that, it's just I want to know how high risk I am. I assume that the baby is highly likely to have downs as when my friend was pregnant she got a 1 in 28,000 result and I know someone who had a 1 in 55,000 chance. I just keep crying, I think I am still in shock. Any advice before I have the procedure would be greatly appreciated. I never realised that pregnancy could be so stressful. I am besides myself. xxx

If I have done my maths correctly (not guaranteed !) your results mean that you have a 1.06% chance of having a baby with downs which means that you have a 98.94 % chance of NOT having a downs baby. Only an amino can tell you for sure but you need to put the result in perspective and not panic. The odds are in your favour massively.

Your maths is right. I think I'm too early for the amino test I'm just shy of 13 weeks. I think it'll be the CVS test but I need to call midwife today and clarify. I don't know what to think, my head is all over. Even more so that I know no one who's had been high risk they have all been low risk like 1 in thousands. Thanks for the reassurance though, I hardly slept last night. The baby will probably know I'm extremely stressed too.