Safe Test...odds of DS over 95%

[RME578]

Hello everyone I'm reaching out in the hopes that someone has a similar story.
I'm 40 yo and this is my third pregnancy after two miscarriages.
Everything was going wonderfully...scans were good no problems. I did then (what I thought would be) a routine Safe Test- they took a blood test to check for Down’s and two other chromosomal issues (Edwards and Patau). My results came back showing that the likelihood of Down’s was over 95%. I'm reeling, never in a million years did I expect this. Yesterday I underwent the CVS test and the consultant has advised me that my odds of NOT having a DS diagnosis is 1 in 20. From everything I've read online nowhere have I seen anyone who has been given such a high probability of the DS diagnosis. I'm beyond upset...trying to be positive but it seems like the numbers are weighted against us.
Has anyone had a similar story to mine?
Thank you all.

So sorry you are going through this. The SAFE test is a nipt (non invasive testing based on the DNA of the baby in the mother’s blood.)

You get a high or low probability result - it is technically a screening test not a definitive yes/no. Which is why you are having the CVS test (as this is diagnostic not probability based.)

I’m unsure as to where the 95% comes from - SAFE gives either a 99 or an almost zero rather than percentages on a sliding scale (unless it’s a twin pregnancy.)

There is a Charity called ARC uk who have a helpline which you may find can give you some support.

www.arc-uk.org

Have you had the results of the cvs back?

Thank you Anatidae. No I'm waiting on the CVS results...4 day wait.

I've been given varying odds throughout this... my doctor initially told me it was a 1 in 2 chance. The person I spoke to at UDS where the Safe Test was done said 99% probability. And then yesterday at the hospital, Consultant said 95%.
I guess they're all not good odds whatever way I slice and dice this.

Thanks for the information. I will get in touch with ARC today.

I’m sorry you’re going through this.
The odds of DS in women over 40 has always been high.

So sorry - waiting is just unbearable. The CVS should give you a yes no result and then from there you should be able to discuss with someone how you want to proceed.

Hi OP, I’m sorry for your previous losses and for the worry you have now. You must do whatever’s best for you but to help you get a rounded picture do have a look at www.positiveaboutdownsyndrome.co.uk . My eldest son has DS and is brilliant. I’m pro-choice and happy to answer any questions you might have.

Hi, so sorry for your previous loses. I mean no offence whatsoever when asking this but just wondering why you are so upset about potentially having a child with Down syndrome? I had a postnatal diagnosis of Down syndrome following the birth of my beautiful baby a few months ago, he is honestly the best thing to have ever happened to me and my husband (he is our first baby). As the previous poster said, do try to get a rounded picture before making any big decisions, there is so much support and help out there now it’s really not something to be scared of. Wishing you all the best

Thanks for all the messages of support.
My fear is that there's no way to know the extent of how the DS diagnosis will impact the child and whether they would be severely limited by this.
Thank you all for your kind words.

Hi. I can totally understand your fear and upset.
I had a miscarriage followed by a pregnancy with 1:5 risk of Down's syndrome.
I chose not to have diagnostic testing and went on to have a baby who did have DS.
I can honestly say he is the best thing to happen to our family. Apart from being the most beautiful baby I had ever seen, he is adorable, loving and makes everyone who meets him smile.
Anything you hear about DS is doom and gloom. In reality it is everything but.
My son has none of the health risks involved with DS. He has mild learning difficulties. He very rarely cries and is by far the easiest of all my (5) children.
There is a lovely Facebook page called positiveaboutdownsyndrome where you can see the reality of life with a child with DS.
It is not a journey any parent would chose, but once you are on it it is amazing. Our family is stronger and filled with laughter.
Contact your local DS group and go and meet some families and their children.
Best of luck

In regards to your fear of how your child will be affected. Generally there are delays. Your child might walk later, and talk later. The vast majority of children with DS do walk and talk. There are lots of therapies available from birth. Physio, speech and language, portage, first class health checks.
You would have to put in extra work but your child will amaze you every day with their achievements.

OP, there are two separate aspects to DS; health issues and learning disability. The most severe health issues (heart and bowel) can usually be scanned for in utero, and the rest are pretty easily treatable. Even many of the heart problems are fixed with one op and the several children I know who had those were out of hospital in under two weeks. Seeing them swimming, tearing round softplay and trampoline parks these days, you'd never guess. My DS takes one tiny tablet daily for his underactive thyroid and has an annual check of his very mild heart issue. That's it. He's very healthy and honestly that's the norm.

The aspect you can't predict is the degree of learning disability. Will my son ever make it as an aeronautical engineer? No. Will he work, live independently, travel alone and have a partner? Almost certainly yes. Will he be a funny, companionable, compassionate, loving mainstay of our family? Huge yes!

There's been so much research over the last 30 years which has changed our children's futures beyond recognition.

When he was born I had never met anyone with DS before and I had a mental image of a non-verbal middle-aged person shuffling round the supermarket holding the hand of their elderly and exhausted parent. It's scary to me now how outdated my perception was. If you place high expectations on these children they will rise to meet them. People used to write them off thinking they were ineducable and that's so far from the truth. They do need to be taught in a way they can access (visual learning much better than auditory learning) but any school can easily do that.

I've just come back from watching my son at the front of the stage leading the rest of his year in a dance routine at the end of their Christmas play. Mainstream school. He can read and speak in sentences. He's six.

There's another thread on here from a lady who was in your position a few months ago and now has her daughter. You've probably seen it. Her updates at the end are lovely.

Here are a few more sites you might find helpful:
www.dontbesorry.net/wp/
www.oliverhellowell.com/
www.dseinternational.org/en-us/
www.dsmig.org.uk/
www.ds-health.com/

Congratulations on your pregnancy especially after the heartache of previous miscarriages. So sorry you’re having this extra worry about your baby possibly having DS. My daughter, Beth has DS which was highlighted at my 12 week scan with a 1 in 2 chance. We were devastated and worried as we compiled a mental list of all the things that could be wrong and all the things she wouldn’t do (strange really as nobody would have any kids if we listed all the potential problems!) Beth was born 8 weeks early and required surgery to her bowel and heart. She was still home before her due date and has had no further issues. It was a difficult time but it is not something we remember now. Beth has just completed her first term at mainstream primary school and is doing really well. It has taken her longer to achieve things but our heart literally bursts with pride with each step! No test will tell predict the overwhelming love and pride you will have for your child. I say all this with the benefit of hindsight, it was hard at the time but is now a distant memory. There is a whole army of families who would be willing to help and asisist you in whatever you need. I can put you in touch with people local to you should that be something you’d find helpful (we have awesome friends that we met through Beth having DS) Unfortunately I would not recommend ARC (Antenatal Results and Choices) - they are not experts in DS and receive funding from the drug companies who make the screening test. The experts in DS are the families of those who love a person with DS or a person with DS themselves who will give you the lived experience (warts and all). When you get your results you may find medical professionals are negative about DS and may lead you towards a termination - you need to be aware of this as the pressure can be subtle but you have to live with the results of any decision whatever you choose.

There are no guarantees even with a child without Down syndrome....a child without Down syndrome could have learning difficulties or be diagnosed with something like cystic fibrosis or epilepsy etc
My gorgeous boy has no health issues so far and is absolutely thriving! He is (touch wood) a very happy and easygoing baby!
Do have a look at the links previous posters have suggested and you’ll see it’s really not something to be scared of, just maybe a slightly different journey to the one you were expecting!

Regarding severity:

The diagnosis of Down syndrome is a varied one - some children are quite high functioning and some have quite severe issues. Some have such severe issues that they do not survive long either in utero or after birth although that’s rarer - most cases are deemed ‘mild to moderate.’

What’s important if you do get a diagnosis is to talk it through with the consultant. It’s not possible for them to tell how severe in general DS will be although they can often pick up heart development problems via ultrasound.

The hospital should provide you with an impartial source of counselling. Whatever decision you make is you and your partners alone: if you decide to progress then they will be able to support you and tell you about the tests/care any child would receive . If you decide not to go ahead then you should receive counselling for that too.

It’s your choice. People can have strong opinions both ways - but this is a choice that only the two of you can make.

You on ARC’s payroll, Anatidae?

High/low functioning is not a term you should apply to DS, btw. The learning profile doesn’t work like that.

You on ARC’s payroll, Anatidae?

I’m a geneticist. Background in primary research into human development. What’s your interest? Bearing in mind we have an OP who is upset, vulnerable and requires medically accurate, impartial advice, to make a choice that is correct for her and her family?

Here lies the problem - Drs, scientists, geneticists etc can count the chromosomes, come up with stats and identify any number of potential health issues but very few have even met a child with DS let alone loved someone. I would like to think any parent would receive impartial support but in my experience those who have a child with DS did not receive a balanced view because of ignorance within the medical profession about what actually living with DS means today. That is why people wanting to know about DS should contact the Downs Syndrome Association - there you will find information about health etc balanced with the lived reality. ARC (formally known as Support for Termination after Abnormality) gives no support for those who wish to continue their pregnancy but does have support for those who do choose to terminate. It also receives funding from the Screening Companies and private clinics - see list of corporate sponsors on their website. Unfortunately “impartial” is often a misnomer.

Hi. Agree with other posts, scientists and medics often have little, if any, experience of living with someone with DS. I was 39 when pregnant with my 2nd child, after several miscarriages and was terrified of having a baby with DS. Paid for private Michal text, had various extra scans and 24 hours after my son Tom was born was advised he had Down syndrome. My world fell apart - why? Because i live in a society that fears the condition, that holds outdated views and does not value diversity. Tom is now 13, in Y8 at our local mainstream secondary and has taught me so much. He's shown me what's important in life, the true value of love and acceptance. I could not love either of y children any more than I do, or be anymore proud. People often give 'impartial advice' that is far from impartial.
I may well have considered termination had I received a positive diagnosis and I am so relieved I didn't because my life would be so much poorer for not having Tom
Sorry for the long post, but I am so sad that people consider a baby with DS less valued than one without.
People worry about the 'severity' of DS, I know dozens of kids and young people with DS - each is unique, is a much loved brother, Sister, son, daughter etc and none of their families would change their kids with DS for the world.
Enjoy your pregnancy and try not to be afraid of the unknown / those of us in the know know the reality and live contented everyday lives, with a little extra!!

ut I am so sad that people consider a baby with DS less valued than one without.

But nobody has said that. No one. I haven’t. No one in the early part of the thread has. Nobody apart from the last few posters (I wonder has this post been shared on a board somewhere..? ) has given any advice that’s anything other than compassionate and impartial.
The last few posts however look rather different. They are not impartial.

Your children are loved, bring you great joy and are valuable members of society, as they should be. The OPs choice whatever it is has absolutely no bearing on the value of children currently existing.

The decision is with the OP. She should discuss with her doctors and make a choice that’s right for her. Not you, not me (not that I’ve expressed an opinion either way and I’m curious that it’s seen that I have) but her. And her family.

Op I’m so sorry this thread has turned this way. I think you should report to MNHQ

Congratulations on your pregnancy OP. I am sorry you are going through such a stressful time. Please do check out some of the websites listed above, particularly the positive about down syndrome one, as it may be helpful to hear other parents' stories. In my experience much of the information you might come across from other sources (include ARC sadly) is likely to be outdated and unfairly negative. Echoing many others on the thread, having a child with down syndrome is something that many parents worry about, but the reality is so very different. My daughter is 4 - she brings huge amounts of fun to our family, gives excellent hugs, loves dancing, is learning to read...and yes, she does have ds. She may have had to work a bit harder to reach some of her 'milestones' but what she has taught us is that it really isn't a race, and the age she learnt to walk or talk is completely irrelevant to who she is and how much we love her. Like most other people with ds that I know, her health is generally good - we may have a few more appointments to take her to, but certainly nothing that disrupts our family life or stops me and my husband from working and looking after our other 3 children. We can't predict how life will turn out for any of our children, regardless of how man chromosomes they have, that's just part of being a parent!
Sending you all the best for a happy and relaxed pregnancy, whatever the outcome of the CVS.

Good lord.

Yes, the OP needs impartial medical advice. That's why I posted a link to the Down Syndrome Medical Interest Group which sets the UK pathways and standards for monitoring and treating people with Downs. I also posted a link to the website of a US paediatrician who has a world-renowned special interest in this area.

With the best will in the world, the clinicians who are currently treating and counselling the OP are the only ones who don't meet our children. They can give possible medical scenarios but can't say what it is like to actually raise a child with DS.

No, I'm not impartial. I'm the parent of a child with DS, and I wish when he was first born that I had had the benefit of hearing the experiences of people further down the path than me. I have no other professional or personal interest at all.

I'm sure the OP can work out that everyone's experience is different and that hers won't be the same as mine. She can take or leave anything she likes from any of these posts.

She can also decide for herself whether she wants her thread pulled. Why is it you think she should?

@RME578 sorry you’re waiting and going through this, it must be nerve wracking. I’m thinking of you and hope that whatever the result you have lots of love and support.

@Christmascardqueen I did want to pick up on your comment though. I’m 42 and just had my third baby, the first at 39 the second at 41 (just) and the third at 42. All my results were low risk. The last baby was 1:2109 to be precise. Not all women over 40 are necessarily high risk. Interestingly my “highest” risk was with my daughter and this has been thus for all friends I know who have had both.

Anatidae
You are rather missing a major point here - you think no one has said that the life of a baby with DS is of less value than one without, and yet you write:

Whatever decision you make is you and your partners alone: if you decide to progress then they will be able to support you and tell you about the tests/care any child would receive . If you decide not to go ahead then you should receive counselling for that too.

If there was not a likelihood that baby has DS you would not be suggesting a decision needs to be made and that the OP may "decide not to go ahead". This perpetuates the view generally held by many medics that the life of a baby with DS is of less value than that of a baby without.

I’m axtually shocked on a thread like this people are petty arguing with each other.

You should be ashamed deeply of yourselves.

Op, I’ve no advice other than I’m sorry you are going through this and whatever happens and you decide I’m sure will be for the best. 💐

Congratulations on your pregnancy OP, it sounds like you have been waiting a long time for this. I was 42 when I had my son with DS but it is true that the average age of a mum with a child with DS is actually 29. Something I have realised since having my chid, there are a lot of myths surrounding Down's and I think that is what everyone else is trying to express and it can be quite frustrating!! I understand that this isn't quite what you expected, it has been quite a journey for me and I have to admit I was sad and shocked like you probably are. What I know now is that there is no reason to be sad. My son is doing very well thank you. He has a beautiful soul unrivalled by children with 46 chromosomes. He is just a child who happens to have DS, he is part of my family and a son I am very proud of. I urge you to take time to look at www.positiveaboutdownssyndrome.com and see that life with a child with DS is not that bad and a life with DS isn't that bad either. The people on this website are living that life, no myths, the truths. Anyway, i hope you find the answers you need. I know it isn't easy xxxx