Low risk for Down syndrome but still worried

[thaigreencurry82]

I appreciate this is an emotive topic but I need some advice/insight from others who have been in this position.

My trisomy screening at 12 weeks with nuchal of 1.4mm came back as 1:50,000 for Edwards & Patau but a higher risk of 1:2,600 for Down Syndrome.

At the time I was happy with this risk and decided not to do the Harmony test as it works out as a 0.038 per cent chance. I was 34 at the time of testing.

The 20 week anomaly scan showed no problems.

However now I’m much further along (31 weeks) and for some reason I have been worried lately that my baby might be that 1 in 2600 that has Down syndrome. I think it’s because the Down syndrome risk i received is higher than the other trisomies and also a general feeling that you could always be that one in whatever chance.

I’ve stupidly been googling and have found examples of women who were also low risk but went on to receive a post natal diagnosis of DS, eg one who has posted on here with a 1:1,900 risk and then others on other forums with a 1:50,000 risk.

So in hindsight the NHS screening has not reassured me and I’m thinking about doing the Harmony which they combine with a scan at up to 32 weeks.

Am I worrying unnecessarily or should I do the Harmony?

my child has a very rare chromosome disorder which would not have been picked up by any antenatal test. scans all normal. she is severely disabled. There is no guarantee to have a healthy and developmental typical child. even if the harmony test would come back clear,. it doesn't mean anything.

Agreed there are no guarantees but there are tests for some syndromes/genetic disorders which gives people the choice for screening for these and making choices based on the results.

I think it is important for people to be able to make choices based on their own situations.

also, my child's difficulties were not noticeable before the 1st birthday. Not every disability is obvious at birth. just saying....

It is interesting to me why a downs diagnosis would frighten someone, but you're in the majority as most people who have a positive pre natal diagnosis choose to abort (9/10). At this stage in pregnancy if the risk factor was something that bothered you less before and more now it could be related to antenatal anxiety so is worth seeking support if your finding upsetting/worrying thoughts intruding on your day to day life.

As the family member of an amazing boy who happens to have DS society's attitude makes me sad. Not a dig at you as an individual, Obviously the mass society perspective is one that is afraid/feels negatively about DS. I wonder about our attitude to difference as a whole. As many people have said the harmony test is a test for the most common genetic differences but it doesnt rule out other causes of learning disability, physical disabilities, mental health well being etc. Or safeguard from these occuring throughout anyones life.
This didnt bother me as a mum to be as Ive always been aware of it, know and love many different people and many average people and to me each of them has their own challenges, and heart ache and tragedies and their own joy and wonderfulness. But I do think more info/resources around this should be avaliable to people.considering becoming parents.
The only word that bothered me on here was the use of the word 'perfect' Im yet to meet a child or adult that meets that description, extra chromosomes or not. xxx

I think it is important for people to be able to make choices based on their own situations.

agreed. But this choice also has an element of deciding to go for something even though the OP says she is not prepared to parent a child with SN and rather have it up for adoption.

I also have a disabled child (nothing that could have been dx prenatally either). and I would not cope with another child with SN. So the choice is very simple. I just won't have any more children.

I wanted to be 100% certain there wasn’t any chromosome abnormality.

no antenatal test can test for all chromosome abnormalities. These tests only test for the most common ones.

It's rather unfair to judge OP's decision when we know barely anything about her circumstances. She doesn't have to justify it to anyone. Some people can cope with certain things that others can't, but trying to shame her won't help.
OP the pp's are correct that there could always be something that isn't picked up on, or something could very well happen to your child at any point in their life. But if the test will give you peace of mind then I would go for it. Better that than you being stressed out about the possibility

But may the trouble is that where pregnancy and birth is concerned there are no guarantees! Cerebral Palsy is often caused by traumatic birth. Children can have accidents even once here which lead to disabilities. If you sign up for having a child then having a child should be your desire. Any child. I have never had any of the genetic tests offered beyond the standard scans in either pregnancy. I simply didn't care- I wanted a child. My child.

I worry about a world where we select only the perfect, and where Downs is considered so dreadful that abortion is the only option at 30 weeks plus.

Of course there are no guarantees but when pre-natal testing exists then certain disorders can be identified and people can choose to have a termination if they want to.

Just because you 'signed up for any child' doesnt mean everyone else has to.

Reading yet another thread where parents and family members of disabled children post unhelpful and cutting comments, I can't just read and run!

If you posted asking for advice on how to potty train your son who was a late bloomer due to DS and some dickhead came on telling you that you should have aborted him, you would be hurt and disgusted... ask yourself, how is your post any less hurtful?

I often read posts of concerned MTBs asking about testing. They are concerned, they want support, if you have no kind words, don't comment. Too often these women are accused of wanting a "perfect" baby and made to feel guilty about their opinion/choice. But it's their choice and nobody else's. Having a disabled child does not entitle you to look down upon anyone who would make a different choice for their child.

There is no instruction manual. We're all just muddling through, doing what we feel is best for our babies.

Be kinder.

Well said AnotherBun

I don't have a disabled child. I work with disabled children, generally who have Cerebral Palsy which more often than not is a result of complications at birth. A test guarantees nothing. Life is not so straight forward. Things happen, things change, people become disabled at all sorts of stages. I would live in hope that the OP wouldn't have her future 3 year old adopted if he became disabled as the result of an accident?

I find it shocking that I, and others, are accused of being unkind for arguing for the life of a 30+ week old foetus and the recognition of disabled people as valuable and worth something.

Can people really not see the difference between knowing you will give birth to a child with medical complications/ disabilities and having a seemingly healthy baby that later develops a medical condition????

And for me an important point was that I had two much older children when I was pregnant with the third in my 40s, and I had to think about the effect on their lives if I passed away leaving them with the responsibility of a sibling who might never live independently.

In other words people have to make a decision based on their own individual circumstances.

And for me an important point was that I had two much older children when I was pregnant with the third in my 40s, and I had to think about the effect on their lives if I passed away leaving them with the responsibility of a sibling who might never live independently

But the point is that might happen anyway! If you choose to have a second or third child you are always taking that risk. A child damaged at birth is just as likely to be a burden.

who But the OP isn't going to terminate if she does have a downs baby. She said she would consider adoption due to her personal situation, of which we know nothing. Also, many pp's including myself have said that something could happen at any point in the childs future. The problem the OP is having is that she is fixated on the possibility and over-worrying about it. If it is going to stress her out so much she may aswell get the test. Again, people have already stated that it isn't 100% accurate, but it's the OP's decision. Coming on here just to shame her for your moral opinion doesn't help.

We were told there was a 1 in 15 chance DD had Downs Syndrome. It was a complete shock and I cried for a few days. At the appointment to discuss our options, the consultant told us to imagine a bag of 14 red snooker balls and 1white, we decided we had a fair chance of pulling out a red ball but decided not to risk our white ball through further testing. At 20 weeks we were told everything appeared as if the baby didn't have Downs. I was relieved, but it was still at the back of my mind. Dd was born healthy and I do sometimes wonder 'what if'. My best friend was adamant she would have aborted, it never crossed my mind. I had time to deal with the outcome before I gave birth if that makes sense. I'm just glad I didn't waste getting to know my newborn because I spent the first few days in tears because she wasn't what I expected. I hope you can enjoy the rest of your pregnancy.

But, prenatal testing does exist and it is one way of excluding some known health issues/ genetic disorders and this allows people to make the choice to terminate, offer for adoption etc if that is what they want to do.

That is one of the purposes of prenatal testing. Yes they still dont know that there wont be a birth injury or a later issue that leads to disabilities but they can rule out the things tested for as far as possible.

they can rule out the things tested for as far as possible

Yep, they can "rule out" some things, thus allowing people to abort and rid the world of the horror that is Downs hey. Imagine being a person with Downs in a world where the general accepted view is that you shouldn't have been allowed to be born.

The point I'm making is that there are plenty of disabilities over which we have no control and which are utterly life altering for parents. If you wouldn't have an injured 3 year old adopted, why have a disabled newborn adopted?

The point is parents have to make the decision that is right for themselves and their own families. Whether others disagree with their reasons or not is irrelevant. It’s such a personal decision, and deciding to terminate or adopt is not the same as saying people with disabilities shouldn’t exist!

Their new baby IS part of their family and if everyone aborted babies with Downs then that disability wouldn't exist.

whowhat it’s not right to make such personal decisions based on how you think others might judge you. Wether certain disabilities might ever be eradicated never came into it when I decided having an amino was right for me. I was busy worrying about my own family not the whole of society.

I had this same anxiety in my pregnancy. I was googling and worrying. What snapped me out of it was when I was voicing my concerns (yet again!) to my dh when I was around 7 months pregnant and he just turned to me and said 'even if your worry proved correct, what would you do? The truth is you wouldn't do anything, in 8 weeks we'll have a baby and we'll love it no matter what'. Somehow something just clicked after that and I stopped worrying so much (I still had a niggle but nowhere near as much).

What I'm trying to say is, given how far along you are, even if you found out tomorrow you were that 'one', what would that change for you given how far along you are? If the answer is nothing then try and put it out your mind and enjoy the last weeks of your pregnancy. One of my biggest regrets is not enjoying mine.

Totally agree @AnotherBunIntOven

I hope my post wasn't viewed as cutting, or unsupportive. I tried to be balanced (as much as its possible to be with my bias). My point wasnt to label or judge anyone as I higlighted the decision not to have an infant with DS is a majority society one. I am genuinely curious about why this is. It isn't my place to judge or criticise any individual or to guide their choice. But if youre hoing to post on a forum you will get a ranfe of views and mine is that every human has challenges and wonderfulness , not having an extra chromosome doesnt protect any of us from these. I dont think thats unkind or designed to shame. But everyone reads with their own perspective.

As for kindness I think thats something many people with DS could teach those of us without it a lot about :).

P.S. the test can pick up the most common genetoc differences, but there are thousands of other things that any human can carry...many of which would make a difference from birth that we cant know about from the harmony test. It isnt just about things that develop later in life versus things from birth. This is why I think more pre conception help or resources for parents would be good.