Down Syndrome 1 in 104?? AIBU to think this is a very low chance.

[Lai91]

Hi,

I live abroad. Went doctors today, 19 weeks pregnant. Doctors did a few tests before and today they said there's a risk of 1 in 104 chance that baby has downs.

They won't do anymore tests. I'm an expat and really confused. What does this mean

The quadruple test isn't the same as the harmony test. So you could still consider the Harmony test as well OP. You could travel elsewhere to have it done if it's not available where you are, as it's just a blood sample. Or maybe doctors in your country could get a sample sent abroad.
The quadruple test is based on a combination of factors including blood tests and age.
The harmony test looks for foetal DNA in the mother's blood. So they are quite different tests, but both risk free to the baby.
Neither are 100% accurate but harmony is much more accurate (as well as much more expensive).

I had a similar result here in the NHS. I was offered the SAFE test (essentially the same non invasive blood test as Harmony, but performed by St George’s in London) and the results came back very low risk.

At my 20 week scan there was then another flagged anomaly linking to the same thing so I was again referred to fetal medicine for an amniocentesis to be certain. I also had a blood test for cystic fibrosis.

It all came back negative.

If I were you, I’d push for an amniocentesis to know for certain.

I would say for your age that it does seem quite high. I’m by no means an expert on things like this but based on my experience, I was 1 in 100,000 at 33 with my son. I would look in to further testing such as amniocentesis if you’re comfortable doing that...it might provide you with more information.

It sounds like you have make a decision and further testing won't change that.
So hope for the best plan for the worst. I don't mean that nastily just that There is no harm in doing your research and getting prepared.

All the best op.

Ah OP sorry you are going through this stress.

It does sound like regardless of anything though, you'll continue with your pregnancy and come what may.

This was my attitude also. I had a lovely GP and when I discussed some of the ante natal tests including a blood test for downs, he asked me "would you terminate your pregnancy if your baby had down syndrome?" and I said no. So he said, then why stress yourself out over numbers. Just enjoy your pregnancy and whatever comes , comes. I don't have any more tests or anything.

He really calmed me down. DS wasn't born with DS but he does have ADHD. Not every condition is diagnosable in utero. Our children come in all different shapes, sizes, personalities and some have "conditions". So what we love them all the same.

If you aren't concerned about having a baby with down syndrome, then don't stress. Look forward to holding a happy healthy baby in a few weeks time. You'll be fine, and in sure you will cross whatever bridge cones with strength and love. Don't fret.

@Soontobe60, we are at cross purposes here. My post you are referring to was not addressed to the OP, but to a PP, who has since had her post deleted. If you had read the deleted post, my post would have made sense. I can't quote a deleted post, but basically this happened...

A poster wrote something that was deleted.

I asked for clarification of the PP. No judgement... Just checking that is indeed whar she meant. Because it was relevant this was clarified as it was relevant to her advice to the OP. And sure enough, it wasn't what she meant. She had misunderstood.

This is what happens when posts are deleted and so other posters are unable to read the full conversation.

@NeonDreams. I'm sorry you had vile responses. I didn't get a chance to read those. But please, your post was deleted too. There was a reason for that.

@Soontobe60. And no, it wasn't me that turned or derailed the conversation. It was the post I am referring to that got deleted. The poster claimed she hadn't written anything very different to anyone else. But in fact she had, because she had misunderstood something. I was clarifying that that was indeed what she meant and intended to say to the OP. And it was not. So clarification was in fact necessary. If you understood this, you would have realised my post was not judgemental. Her post was deleted for a reason.

Congratulations on your pregnancy op. What routine scans do you have? Often the initial worry for a baby with t21 is heart defects so as you're continuing regardless, I'd wait for the equivalent to or book in an anomaly scan and go from there

OP I chatted to my consultant and when I said I would not terminate he did advise against amniocentesis because of the risk of a miscarriage. All my scans were reassuring, and as I posted upthread, my baby did not have Down syndrome.
So your scans may help clarify the situation .

@Soontobe60 P. S. Although I do apologise if it seemed judgemental. I can see that, taken out of context, it may have seemed that way. But context is everything and anyone reading this thread will be unable to see the deleted posts that began the conversation. My posts were intended to support the OP and to gain clarification of a poster who may have otherwise alarmed the OP.

You can get a lot of info on possible medical issues eg heart from scans to be prepared.

Ds was identified high risk but doesn't have DS....
but a different chromosome syndrome and no long term health issues.

As you say one day at a time
Wishing you all well as you await your lovely and loved baby

@Dramallama4 .. I have a son who presents similarly as with downs .. this is the thought that keeps me up at night.. who will manage his care etc .. my dd hates him sadly and I also wouldn't expect her to care for him although I'd like to think she will make sure he is safe ! ☹️..

@huuuuunnnndderrricks
It’s tough being a sibling to a disabled child, your dd’s feeling may change as she gets older, she may feel protective of him in time. You shouldn’t rule anything out at the moment.
I understand your worries, I have exactly the same ones, kids like ours are so sweet, vulnerable and trusting.
I don’t have any answers except I live a very healthy lifestyle, I look after my mental and physical health as best I can so I can be there for him as long as possible.

@Dramallama4 I do the same , keep my weight down , take exercise , don't eat meat , smoke or drink .. he is a great motivator for staying well tbh .. every cloud and all that .. I obviously realise I can't find genetics and what will be will be but I know I'm doing my best to stay as well as possible . Still such a worry though 😞

[quote huuuuunnnndderrricks]@Dramallama4 I do the same , keep my weight down , take exercise , don't eat meat , smoke or drink .. he is a great motivator for staying well tbh .. every cloud and all that .. I obviously realise I can't find genetics and what will be will be but I know I'm doing my best to stay as well as possible . Still such a worry though 😞[/quote]
It's a real joy to have found other Mums on here with a child with the extra chromosome! Our children are just amazing - both my children are fantastic (most of the time!!) but DD1 has a simplicity about her, her understanding of the world is so different from her sister's but equally valid, we have learned so much from her.

Congratulations on your pregnancy!

I had my bloods come back as 1:79 for T21. Being 39 and this is my first (IVF) pregnancy, I wanted to be certain so I opted for the amniocentesis (it's a diagnostic test rather than a screening one). It came back clear/negative for T21. For me, it was about being able to make an informed and definitive choice going forward, but I respect those who choose not to proceed with any further testing (whether invasive or not). I hope this helps and good luck with whatever you decide to do.