Down's syndrome test - what to do

[MumChats]

Long time lurker, but first post! I'm 8 weeks pregnant and trying to decide whether to have the test for downs syndrome or not.

I'm familiar with down's syndrome but have no lived experience of it, no friends, relatives etc. It seems to me that people with down's can live long, happy and relatively 'normal' lives so for that reason we feel we would want to continue with a pregnancy of a baby with downs (so the test is pointless).

I just wonder if I'm missing something here. The fact that a test is offered to diagnose it kind of makes me feel like it might be worse as a condition than I know of. Would any parents of children with downs syndrome be willing to share some experiences, and give me an insight into life to help us learn more? Any thoughts much appreciated.

I've had 2 children and now pregnant with the third. I've never had the test. I decided we would deal with whatever came out way when it came. A baby having downs wouldn't make me reconsider having that child.

It’s not just Down’s syndrome they test for though, there’s other conditions which are not compatible with life.

My husband and I have decided that we wouldn’t choose to abort our baby if they have Down’s Syndrome, but we do want the test. I would rather know so I can read up on how best to prepare so we can offer the best possible care when the baby is born.

Don’t worry about what other people would do - everyone is entitled to make the right decision for their family. For some that will be abortion, for others it will be continuing the pregnancy. You only have to decide what’s right for you.

I had it because I would want time to do as much research as possible into the condition and to prepare myself and family as much as possible. I’m someone who likes to have as much information as possible to know what I’m dealing with. DS can vary a lot in severity. I know it is often associated with other health problems for example heart issues and early onset dementia. The test also looks for two other conditions which are usually not compatible with life.

It's worth mentioning that the combined test offered at about 12 weeks doesn't only check for Down's, but also Edward's and Patau's syndromes. These conditions are much more severe than Down's and sadly most children with these conditions do not live much past their first year.

If I understand correctly, the test results tell you one risk factor for Down's and one for Edward's and Patau's. So, the results could say "high risk for Down's, low risk for Edward's and Patau's", and you might make different decisions based on that than of the result was "low risk for Edward's and Patau's, high risk for Down's", for example.

Down's is quite a serious condition and the presentation is quite variable. Yes, many people with it live long and reasonably healthy lives, but sadly there's also a higher incidence of some life-threatening conditions.

Ultimately it's completely your choice whether to have the test or not - I've ummed and ahed about it a lot. I think it's good to be fully informed about the tests so you can make the right choice for yourself.

Thanks for your replies ladies. @damnshesasexychick - the other tests (Edwards and pataus) are 'not compatible with life', to use your words, but I feel like downs is which is why I'm feeling more indecisive about this one. Did you consider downs to be incompatible with life then, and do you mind me asking why exactly?

We had the harmony test after the other test revealed that baby was high risk.

It isn’t just Downs Syndrome (trisomy 21) they look for. It’s also trisomy 18 and trisomy 13 which are very different.

(I don’t know if that changes from region to region)

Down’s syndrome didn’t worry us but the other two did

Hope that helps and good luck

Oops cross posted with everyone!

We chose not to find out. The tests aren,t 100 and if it leads to a CVS there is 2% risk of miscarriage and if it,s an amnio it,s still 1% risk of mc. But both of us have worked with children and adults with DS.

I have had it both times. We would 100% continue with a pregnancy with downs, though not the other two.

It is more so I would be aware of what was coming and I could properly prepare. I would want lots of research, plans in place etc. Not sure why you wouldnt want to know tbh.

No I don’t consider Down’s syndrome to be incompatible with life, I’m not sure how you have inferred that from what I wrote. I had the combined test because they test for all three trisomies and for all three I would have wanted to know in advance to be prepared.

Hmm I'm not sure if its different in my area but here we can have the Edwards/Pataus test separately to the Downs test. So we can find out the risk for those without Downs if we want.

Thanks for the people who have pointed out that knowing could help us to prepare. I hadnt considered that.

OP, "incompatible with life" just means that someone with the condition will almost always die very young. This is the case for Edward's and Patau's but not Down's.

"Incompatible with life" means that the baby can not stay alive with that condition. They will die soon after birth. DS is not incompatible with life because it does not cause a baby to die. However, leaving the heart and bowel issue that can come alongside DS untreated could massively affect the baby's quality and longevity of life.

I had the test both times. We agreed that a high chance of downs wouldnt be enough of a reason to terminate, but at least knowing would give us chance to prepare and research to be able to provide for a baby with down's syndrome if we needed to. DH had an uncle with down's who lived a long happy and fairly independent life so whilst we know about the challenges it didn't scare us.

For me, I took the test because if it had been high risk I would have had time to research and prepare for a child with extra needs. I didn't and don't know a lot about Downs syndrome the bits I do know are from TV mostly and I had never heard of the other two conditions other than the information leaflet on the test saying they were serious conditions.

I am a planner and the sort of person that agonises over reviews before buying even the most mundane purchases like a kettle so for me taking the test was the right decision.

For others knowing of a potential risk could be unbareably anxiety provoking in which case maybe not knowing would be better. It's a personal decision, what would make you calmest during pregnancy?

Some people with downs syndrome can leave relatively "normal" lives. Others can be very very poorly and need a huge amount of medical intervention and still die in childhood. There's also Edwards and Pataus as mention by pps. Obviously it's entirely down to you what you would do with any test results you received (AFAIK it's not possible to tell how much a child would be affected until they're born) and if you don't think that you'd terminate anyway then I can understand why you wouldn't take the test. I would recommend doing some research into the variety of ways in which the various trisonomies can affect quality of life though. I think sometimes TV portrayals of people with Downs can skew towards the lesser affected side (understandably).

Hi, I have a toddler with Down syndrome so would be happy to answer any questions you may have if I’m able to.
We declined the combined screening for DS but did screen for T13 & T18 as these syndromes are more severe. We obviously went on to have a postnatal diagnosis of Down syndrome

I have a nearly 8 month old with DS

The 12 week nhs test came back low risk....

She scanned small at 20 weeks so they did lots of tests to find out why. All came back clear so they offered amnio. We declined as there was nothing life limiting showing in scan and even if she had come back positive we wouldn't have terminated so we wouldn't risk miscarriage. We had the NIPT test which came back high risk but even the doctor thought it was a false positive.

We were closely monitored throughout pregnancy from then. Heart scans and internal organ scans

When she was born she had no physical features and the doctors said they would never have tested her.... however the blood test confirmed she does in fact have DS

It has meant she was able to get the help she needs from day 1. She could have actually been one of those rare cases not Diagnosed until she was a lot older and struggling. Now she is getting the help she needs already when she needs it. The support network is fantastic.

I would recommend having the test so you know based on my experience. Not because you would change anything if it came back positive

The first test they offer is just a blood test. If it comes back that you have (what they consider) a higher chance of having a baby with downs, then you can opt for the amino test (where they stick a needle directly into the amniotic sack) which is more reliable.
I don't have a child/children with downs but my best friends little brother (who I saw as my own brother) had Down's syndrome. He was a wonderful person whose life was very fulfilling (he sadly past away last year) Knowing someone who had Down's syndrome made me sure that if my baby had it, it wouldn't bother me. Ultimately it's your choice if you have the test(s) or not.

I chose not to have the test. I’m older so knew it would come back high risk anyway. And I definitely knew I wouldn’t want to go on and have the amnio thing.

Oh what I meant to add is I wouldn't bother with the nhs test after what happened to me.... it gives too many false readings. I would go straight for the nipt which (while also not perfect) is better than the nhs test.

I have worked with 4 or 5 year old with Edwards . But he may have had mosaic Edwards. Not sure what his life outcomes were but he was able to walk and talk.

I was 40 when I had my second child so I knew my background risk was already higher. I had the test because I knew I would want to know in advance if he or she was likely to have additional needs that we would need to adapt around.

My test came back higher risk (as it was always likely to given my age, but it was higher risk than most women my age), so I had to decide about amino which carries its own risks.

Again, I felt that personally I would find it stressful to spend the rest of my pregnancy wondering whether the baby was affected or not so chose to have the amnio. That came back negative and the rest of the pregnancy was uneventful.

It's worth thinking through what you would do in the event you got a higher risk result than expected. There's certainly a very good case for not having the testing if you feel that it wouldn't make a difference to you - I personally don't think it's a great idea to have the screening if you wouldn't have the follow up testing as you'll just be giving yourself more anxiety if you get a high risk result.

I did a lot of reading about people's experiences of having a child with down syndrome in their family and that really helped take away some of the fear and unknown when I was waiting for my result. I was glad that the baby wasn't affected, but it wouldn't have been a disaster if he had been, just a different path (we'd already had a detailed heart scan and knew there didn't look like being any issues there).

DS has a huge range. The babies worst affected will be ones the mother will miscarry or experience a stillbirth with. Then there are significant numbers who have a short and painful life with no quality, but lots of medical intervention and treatment. Finally there are those who are few and far between that are effectively high functioning and can live independently. The rest will fall somewhere in between the last two categories.

Remember that other serious health conditions go alongside DS, such as heart and bowel conditions as mentioned above. In addition there will be anywhere from an element of SEN to needing round the clock care for life.

It’s not just about whether your baby will have DS and be able to have a happy life because no test or scan can tell you that but it’s also about the detrimental effect it can all have on your relationship and any other children in the family.

Please, have the test and if necessary get proper and informed information to make your decision; don’t just rely on a forum online.