Screening for Down's Syndrome

[DianeDavies]

What are people's feelings about having the test for Downs' Syndrome? (there is no right or wrong answer to this, I'm just in a dilema)

When we were expecting our first baby we didnt have this or any test because we figured theres nothing we can do about it (we wouldnt terminate) and if our baby has the condition then so be it. But this time I feel a bit different. There is still nothing I can do about it if the test is positive but I am anxious about my baby having Downs.

I cant decide how I feel about it - it'd be pointless knowing but..

Mariana that's a bit of a misconception. I know children with Edwards who have lived for many years.

I had the screening without giving it much thought at all in my first three pregnancies, as it was only a scan/blood test. Got low risk each time (around 1in 10,000). DS3 was born with Down's Syndrome. So actually, the screening didn't prepare me at all, in fact, if anything it gave me a false sense of security. I was probably also not that informed when I had the tests, either about the conditions they were testing for or what the screening actually meant.

DS3 is now 9 and I've subsequently carried four babies, twin daughters who we lost through pregnancy complications and prematurity, a third daughter and I'm currently pregnant with DS4. I have declined all screening because there's no way I'd risk a baby by having an amino, even if the risk is tiny and I don't feel the screening will provide me with much or any information. What I do think is that any serious congenital abnormalities would show up on my anomoly scan, although nothing showed up for DS3 as he only had two small holes in his heart (he had surgery for these at 6 months old).

Before having DS3 I might have thought a child with Downs would negatively impact on the lives of my other children, but in fact, it's quite the opposite. I do sometimes worry about what the future holds, particularly of we die before DS3, but there's no point in worrying about what might happen in 30, 40 or 50 years. (I was 27 when I had DS3) My DH is my second marriage and totally accepts DS as his own, he adores him.

I had the blood test because I was 35 and planning on giving birth at home. I wouldn't have terminated. I wanted to know my risks in case I then wanted to choose a different birth plan. I would probably have been in hospital for a birth of a baby I felt there was a high likelihood of having extra problems. I didn't want to have the amnio though. I went on stats which, as Midori says don't always guide you to the truth for you.

Lots of 'I' sentences there Diane. Perhaps that's how it is. What is right for you?

I declined the test. Like you, I knew that I would never terminate if my baby had downs. I also knew that I wouldn't have amnio because of the miscarriage risk.

Given that, I felt that if I got a "high risk" blood result back, then I would be scared and panicky the whole pregnancy, when the chances were everything would be fine. I felt I would have a much more peaceful pregnancy just accepting that there is a slight risk of downs (and of all the other medical things which could be up with a baby), and getting on with it.

Fair enough hystericalparoxysm. I'll amend courtesy of the NHS website: 'Only 5-10% of babies with full Edward's syndrome survive beyond one year, and will live with severe disabilities.'

In my own experience it was repeatedly described as 'incompatible with life'.

I agree with Futterby. I have declined the blood tests. Simply because I had them with DD1 and came back high risk 1:4. I didn't want to proceed with the amnio (high risk of Miscarriage quoted back then) and I felt this just added to stress levels.

I was asked again if I wanted to know from 20 week scan if there were other markers which there were not so would have had plenty of time to prepare had there been.

THANK YOU so much for all your replies. I think I have decided NOT to have the tests. To be honest, there is little point, if there is something amiss there is nothing that can be done, and like so many of you said the results arent completely reliable.
Like I've mentioned, I work in a respite unit with people with various learning disabilities so I do have experience and I have an idea what I would be facing - although I know 'working with' people and have a child of my own is very different, but most of the people I work with are truely beautiful. I also know that whatever happens the child will be loved to bits. So I think I need to bury my head in the sand for the next few months.
Thanks for you comments, you really are supportive xXx

We agreed to the tests just because. My DP said either way we wouldn't do anything (which filled me with happiness that he didn't care and would still love DC - which of course who wouldn't but still made me happier) But at least we would be prepared if it came back as low risk. As it is we found out the day of the scan and blood tests that we're expecting twins so the test isn't as conclusive as a singleton. We were given leaflets about further screening in multiple pregnancies and told to think about it. We decided either way we wouldn't have extra tests even if it came back high risk. Our results we're very low risk but my midwife still felt like telling me 'it's still hard to tell with twins as the two babies can confuse the results' We're still not going to have further tests though and are looking forward to the new additions sometime in November

Aaw, congratualtions Franykins, 2 for the price of 1 :)

One thing I did ponder when I was considering having the test was; if it comes back as high risk then we have time to prepare ourselve - but how? How do you prepare yourself for a child with extra needs? There is nothing practical that can be done, so that just leaves 'worry' which seems to be a waste of precious energy.

Good luck for November x

Thank you. Over the shock now and feeling very excited - if a little scared about having two newborns to look after, but I think everyone has a bit of worry about looking after a newborn on their own don't they? Anyhow its gonna be amazing - exhausting - but amazing.

I think the only way you could prepare is to look into support systems early on and have them in place maybe.

My child who was born with severe disabilities was diagnosed at the 20 week scan. This enabled us to research the surgery she would need after birth and her likely prognosis and get prepared for the rollercoaster of emotions ahead. We were able to find parents in similar situations and some further down the road who could guide us. We referred ourselves for practical support before the birth so it was in place by the time we brought her home. And we were able to make adjustments to our finances so I could be a sahm which we felt was necessary given her needs.
I do think its up to each individual whether to have the tests or not but I would just like to point out that in some cases, forewarned is forearmed!

I'm pleased you have made a decision your happy with op.

To reinforce you decision u would like to add my story.

I didn't want to go for a scan at all and eventually went at 6.5 months (that is not a typo) dd was dx with spina bifida and we were painted a bleak picture of birth, newborn and life. I was told my precious baby world be born with her spinal cord exposed and dangling out of a hole in her back, would be rushed off for emergency surgery within hours of birth, never walk or be continent and had a 75% chance if developing hydrocephalus in utero and would be miss sharpen and brain damaged.

After having loved being pregnant, I became terrified. I spent the rest of my pregnancy being stressed beyond belief. Our language has no words for what I felt.

After a horrendous 3 day labour ending in a section ( how could I push out a baby who was going to have to face all that!)

As soon as she was born
We discovered that her spina bifida is not open, she spent the first 24 of life snuggled up to me (as opposed to medical grade cling film!)
At 16 mo we know she has some muscular Un development and is not unaffected by her spina bifida. She is however walking with aid, mentally normal and as continent as you would expect.

It's all very well saying you would rather know to prepare yourself but from my own experience I would rather of had my precious baby in my arms and been able to see that she was ok really, tell her I'd low her no matter what. Than spend 3 months feeling like my body had betrayed this baby and dreading her having to come out.

There is plenty of time to learn to adapt to your new babies particular needs when they are here. What do you really gain from a bunch of maybes?

Wow, hysterical, could our messages have been any further along the spectrum of opinion from each other

It's good to give the OP a wide range of experiences! What did piss me off was the medical 'experts' trying to convince me - in horrific detail - about the certain slow death of my child and how selfish I was being to continue the pregnancy. DD is disabled, yes, but has an excellent quality of life and is very happy (as am I). I do think this testing is done a bit willy-nilly and without proper information available. And involves some scaremongering doctors

Thanks Herrena and Hysterical, I really appreciate that you've shared your widely varying experiences with me. It is helpful to hear peoples REAL experiences along with the emotions that go along with it, my experience with medical personel so far has been cold and unsupportive.

I think the thing your stories have in common is that your children are fabulous and loved as individuals and are not defined by their conditions and while your life might have had to be turned upside down, upside down is an option xx

I had the blood test because my aunt was Downs. I was told Downs was not hereditary so I did not precede with any further tests. I didn't want to know anyway as it would have made no difference to me.

I would have it, as there is a strong likelihood I would terminate for medical reasons. Both DP and I would be 'older parents', living in a foreign country, and without any support. I do not believe I would be a competent parent for a child with special needs, to be honest, and after our deaths we would be leaving that child to live their life alone, as I don't believe DP's daughter from another relationship should have to take on the responsibility alone. Bluntly, I don't think I could accept the responsibilities involved in being a SN parent.

Obviously I completely understand and respect all the very different viewpoints here though.

RabbitFromAHat thanks for such an honest post. I can understand how you feel. Our age is our biggest concern and we dont have an immediate support network but we felt that (we hope) we would be able to cope (somehow!) x

I think it may be worth making the point again that the screening is not just for Down's syndrome. Edwards and Patau's are also screened for. It is not just about finding out about if your child will have Down Syndrome (which has wildly varying health implications) but also about finding out if your child has a 95% chance of dying before they are born or in the first year of their life.

I appreciate that this fact will not make any difference to some people's wish to carry on a pregnancy, but the whole debate is only framed by one of the three disabilities tested for.

It's tough, isn't it? I dare say it is entirely possible that I could feel very differently if I was pregnant, of course - to say theoretically how one believes one might act isn't the same hing as doing it in reality.

I agree, Humphrey, and also have multiple sad family experience of this, with a close family member having to have several TFMRs for syndromes incompatible with life; very traumatically, as abortion is illegal in all circumstances where I live and they were obliged to travel internationally, making each experience even more distressing than it had to be.

And can I also point out that these are only three possible disabilities that may arise. Other chromosome differences, autism, cerebral palsy, late onset disorders etc are not picked up by the triple test.
I have no agenda here, I actually have no idea what I'm going to say when they ask me about the tests in 2 weeks' time!

Definitely go with your gut in regards what you would do if a result was positive for Downs. If you wouldn't terminate, I wouldn't have the test.

I had a high risk for Downs with DD. 1:35 even though I was only 34. I had a CVS at 13 weeks which failed because they didn't get enough blood to get a result and then went through an Amnio at 18 weeks which came back clear.

I am sure I would have terminated if the test had come back positive, I needed to know one way or the other.

Thanks for the extra point Humphry, I suppose the reality is that Down's is just one of many conditions that a child can be born with, some can be tested for and some can not, but the situation remains the same for all of them - there is nothing that can be done to 'fix' any/very few of them. So I think I am going to stick with putting my fingers in my ears and pretending that anything out of my control wont happen x

Despite having had a baby with Patau's I think that this is an entirely reasonable response DianeDavies. FWIW I had the triple blood test and it did not pick up the problem. I should say that this is very rare as I don't want to worry other people.

The fingers in the ears response tends to crop up quite a lot in parenting

It is astonishing how cold the staff can be. When they sent us home from the scan they didn't even send us with a leaflet outlining what spina bifida actually is. They wrote down the correct spelling (at our request) in an illegible scrawl on a random page of my notes.
Oh the horrendous googling in the library, with 15 mins til the computers were booked for something else, frantically making notes as we had no change for prints surrounding by giggling school kids.
To be fair when we went for a repeat scan a week later they arranged for representatives of the various teams to be there to answer our questions, 8 of them all stuffed in a little side room. Helpful but intimidating.
I can't go back to the sonography ward, I was booked in or an ultrasound for something else and didn't even make it to the waiting room

I still wish to this day I hadn't know anything about it til I could hold her in my arms and say well whatever is wrong with her, she's perfect to me