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.

Thanks everyone for taking the time to reply. Some new perspectives have really helped. Thanks also for explaining "incompatible with life" I am new to this and apparently need to learn lots of new lingo!

@LBB2020 would you have done anything differently in hindsight - do you think you could have made more preparations if you had had it? And @PrayingandHoping thanks for sharing your story. It makes me lean towards the test when I was previously thinking of not bothering. I want to make sure the baby gets everything it needs from the start, Down's or otherwise :)

Whoops haha @PrayingandHoping just seen your second post about not having the test after all! Lots to consider here anyway. Thank you all.

Have a read on the Down's syndrome association website for what the condition could mean. Life is v different for a DS child/adult now than it used to be and there is a LOT of misinformation banded about.

@MumChats I wouldn't have the nhs test.... because I got low risk which was wrong! But I would have the nipt test which is a lot more accurate for DS. Still not diagnostic but no miscarriage risk and that alongside scans will give u and the medical team a good idea if u need to
Prepare for anything

@MumChats no we wouldn’t have done anything different at all we’re very lucky our son has no medical conditions associated with Down syndrome. He is a little behind developmentally but has had a huge development leap during lockdown. To be honest I don’t think there’s anything we could have done to prepare ourselves as all children with DS are so different so you can’t know until your child is here what additional support they might need. For me personally I would have spent my whole pregnancy worrying and reading about DS, a lot of information online is very negative and outdated.
I’m currently pregnant and we have again declined the screening for Down syndrome.

The main reason they test for downs syndrome is because they know how to. This test has been around for a long time so people are more aware of it. Downs syndrome is a spectrum like many other conditions and some people can be more severely affected than others. You wouldn't know how severe his or her developmental problems would be until a long time after birth although many medical problems can be detected at the 20 week anomaly scan.

Personally I didn't have the test. Mainly because the non invasive test would have told me my chance of having downs syndrome, edwards syndrome or pateaus sun but nothing concrete. I didn't think telling me my chances of having a child with one of these syndromes would be that helpful. I knew I wouldn't want the cvs or amino tests because of the risk of miscarriage. If I was pregnant now I might ask for the nuchal fold measurement to be done but not the blood test or the invasive tests.

It seems to me that people with down's can live long, happy and relatively 'normal' lives

I think you need to read some accurate information- happy lives, 'normal' lives' yes, definitely, there are lots of people with DS who would fit that category, you could look at Ollie and Cameron on FB for a start who are quite young and utterly adorable!

www.facebook.com/ollieandcameron/

I personally know two people with DS who are much more severely affected, one requiring pretty constant care 24/7 due to health difficulties, and one who is also autistic and exhibits very challenging behaviour. They can also have happy times! But it is not the same as having a child that will grow up and away from you as they require constant care, including after you yourself pass away.

Length of life is a difficult one, many people with DS have been discriminated against and had poorer care which affects life expectancy. Many people with DS get dementia earlier in life, again, this is a care need and would affect life expectancy.

I think it's very complicated, I have had lots of positive experiences and know people with DS who are happy. I did choose not to roll the dice again though and have a third child as I was happy not having the more extensive side of the care needs and having seen the emotional toll it has taken on my friends and how their lives have changed to be carers, I wouldn't have had the test or an abortion but it did factor into my decision not to have another child around 40 due to the increased risk.

It really is an individual decision.

Prayingand hoping. Low risk isn,t no risk so it wasn,t wrong.

@june2007 yes I know that low risk isn't no risk. However it did not pick it up. It has been categorised by health professionals as a false negative. It gave a false result and I am lucky that it was picked up during my pregnancy as otherwise it still may not have been picked up even now.

When one test comes back low risk and another high risk, one test is wrong. Life playing out showed it was the nhs test and studies have shown it gets it wrong more than the nipt test does.

There is a better test for DS out there in the nipt. The health team I was under all agreed it will (and should) replace the nhs test as it is more accurate.

I grew up with a boy who has Down’s syndrome and have gone on in my capacity as a nurse to work for a short periods with many people who have Down’s syndrome. My experiences can’t be extrapolated to cover the whole population by any means but yes there are Congenital issues such as the heart and hearing problems but my goodness, they are the best of all of us. Again - purely personal experience- but honestly, just wonderful, lovely people. There are many, many reasons I would terminate a pregnancy having had the experience of caring for people who have suffered their whole lives. Downs is not one of them.

@PrayingandHoping the NHS test gives a risk ratio which then translates to high or low risk (e.g 1:100 high risk 1:100,000 low risk). There is always the possibility that you could be the 1 in however many even if you’re classed as low risk. I don’t think the test was wrong as it isn’t diagnostic so couldn’t have picked up that your baby had DS. Unless I’ve misunderstood and you had a diagnostic test which was wrong (CVS or amniocentesis) x

@LBB2020 if u see my second post just below you will understand why I stand by my view.

I know that it is a 1 in X result over categorised as "low risk". Someone will always be that 1. No I did not go on to have invasive testing. I am comparing it to the nipt which is also non invasive and non diagnostic and also give u risk which gave me the opposite result as high risk. Therefore one of these tests was wrong

This isn't just my opinion but also that of medical professionals and there are papers and studies on the percentages of results that come back incorrect. The nhs test gives a much higher number of incorrect results than the nipt test for DS.

I will also add my 1 in X on the nhs test was far from the borderline where low turns to high.

Fair enough, although I don’t personally think you can really compare the NIPT with the NHS screening as it uses DNA so is far more sophisticated.
Hope your baby is doing well x

Agreed which is why the medics told me they think it will at some point replace the current one. It is proven to be more reliable for non invasive risk assessing DS. They are comparable as they both fall into that category and give the same non diagnostic risk result

Obv this is very close to my heart. I was literally going through all this this time last year. My views are formed on my experience and discussions with the many many many medical professionals who have been interested in my case in the past year. Not many babies out there could have so easily slipped through the net diagnostically as mine could easily have as on scan there was nothing wrong other than the fact she had little legs! That was it. If it wasn't for the fantastic sonographer deciding to go and ask someone what they thought my baby still may not have a diagnosis now.

Obviously they don't want babies to slip through the net and go undiagnosed (as the post natal paeds also said they would never have tested her on physical examination). So we have had many discussions about what happened.

She is doing great thank u though 😁

Glad she’s doing well
My son showed no soft markers at our scans, the only thing that made the midwife and paediatrician suspect he had Down syndrome was how floppy he was! Genetic testing was offered the day after he was born (which obviously came back showing he had T21)

Glad u are being well looked after too. My LO is tiny (12lbs at 7 months!) but that has nothing to do with DS! She's just little lol

It's been a rollercoaster but she's amazing and the nhs has been great. Covid has delayed some of the help she should be getting hands on but she's doing well and not marked as urgent so we've had telephone contact.

My midwife said to me that if we were going to keep the baby regardless of whether they had the condition then to not test and potentially put any additional stress on ourselves during the pregnancy. But only you can really make that decision

About 50% of babies with Down’s syndrome have congenital heart disease which will need surgery. Whilst this is usually very treatable, it may be worth knowing about sooner, rather than later. I wouldn’t have had a termination for downs (and you never know if you are going to be the 1 in 10,000 or whatever that has a baby with DS despite their low chance screening result anyway), I would have wanted to be able to prepare and arm myself with as much information as possible.

@BadAlice not all congenital heart disease needs surgery.... my LO has 2 of the more minor conditions (as in surgery immediately was not required whereas some conditions it is) and it falls in the congenital heart disease bracket. It is being monitored with 6 monthly scans. She may need surgery before she goes to school but also may not. Her consultant says it's definitely not certain either way.

Her heart conditions were not picked up antenatally. All children with DS (In my area anyway) have a scan around 6 weeks old if nothing was picked up during pregnancy.

The whole point of the nipt test is that it doesn't throw up false positives. Of you get a high risk then your baby has a 99.9 percent risk of having downsydrome. So whoever that doctor was he should do his homework! It's the NHS test that gives false positives as well as false negatives not the nipt.

The nipt is 99.9 percent accurate for downs sydrome.

The amio is 100 percent

The NHS test is basically a guess. A guess anyone could make from looking at someone and guessing practically. It's so inaccurate it should be abolished now and replaced by an ACTUAL DNA test like the nipt, harmony, panorama, Iona so women actually know either way what to prepare for.

@ChampooPapi yes.... even with nipt test you can get false positives (high risk)

www.nuffieldbioethics.org/blog/nipt-private

Once my result came in the consultant went into a computer program and typed in a whole load of other data alongside the result and the chances of it being a false positive her around 25-30%

It wasn't just my consultants opinion. It's medical fact and procedure

I would have kept either of my babies if they were diagnosed with Down syndrome. I still had the test as I would have liked to be prepared . No harm in having the test .

Sorry typo as I'm doing 2 things at once. I was given 15-20% (even typing that out I had to delete and retype twice lol )