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 follow up tests (amniocentesis) they once offered me with a 104 carried a 1 in 100 risk of miscarriage. So I said no thanks.

Given your age, I would say that is a higher risk figure than I would expect to see. I am 33 and my screening came back as a 1 in 10717 risk.

It very much depends how you feel about the prospect of having a child with Down Syndrome, but if I were in your position I would be considering amnio/CVS for a definitive diagnosis.

To add. That child does not carry the additional chromosome and it wasn't much higher a risk than my age group.

@Somethingsnappy Er, yes, and others aren't saying much different from me.

@NeonDreams nowhere has the OP even suggested termination being an option.

Perhaps she just wants to be well informed!

That's a high risk and you should carefully weigh up your options. On the face of it, it can be rationalised away that you won't be the unlucky one and the balance of probabilities are in your favour. But... 0.96% is actually quite high.

Think of it in the scheme of other things in life - if there was a 0.96% chance of being seriously injured every time you drove, or took a walk, or went on a train, or ate a particular food - there's no way you would do it.

Personally - I'd terminate. But it's your decision what you think is best for you.

I'm really sorry OP but that's high. I was 40 when I got a baseline 1 in 250 chance of Down's and then went on to do a Harmony test which came back in 1 in 10,000 or 100,000 (can't remember which it was a long time ago). Would amnio be an option for a more conclusive test?

[quote Rinoachicken]@NeonDreams nowhere has the OP even suggested termination being an option.

Perhaps she just wants to be well informed![/quote]
I never said she did! I said I would.

Sorry, I'll reply properly to the OP now. Screening test results cause a lot of anxiety in parents, often unnecessarily. OP, the results are calculated based on a few different factors. The baby's NT measurement is taken, and the mother's hormone levels are calculated (PappA and HCG) and together with the mother's age, the results combine to give an estimation of risk. As a PP said, anything under 1 in 150 is considered 'high risk' medically, but even just out of that bracket (1 in 151) and you would be considered medically low risk. So you can see it is the terminology that is used in these circumstances. In actual fact, if you were given a box of sweets and told to pick the only green one in 100 orange ones, your chance of getting it would seem very low. So it's a good idea to put it into perspective.

Amniocentesis is an option for you, if that feels right. That is an actual diagnostic procedure. It does come with a risk of miscarriage though, so please discuss with your health care professional first.

It’s still a relatively low chance as it’s less than 1 percent. How do you feel about it? When talking about Down Syndrome lots of people tend to forget there there are numerous other chromosome disorders other than Down’s syndrome that are often aren’t picked up on pre natal tests. As a Mum with two fairly young children I know of five children all with various chromosome disorders none of which were found on pre natal testing. I believe the chance of having a child with a chromosome disorder is about 1 in 250. I’m not sure if that’s a helpful fact or not. Don’t be sorry on Facebook is a lovely blog written by a mum with a little boy with Down’s syndrome giving an insight into their day to day life and Oscar’s condition. I hope everything goes well for you.

The NHS would class that as high risk and they would offer you further diagnostic testing ie. an amniocentesis, since you're 19 weeks. That would give you a yes or no answer.

The amino carriers a (albeit small) risk of miscarriage so you need to ask yourself what would you do with that result. Would you keep the baby, regardless? Would you want to know just to be prepared? Would you have a termination if baby had Downs? Your answers to these kind of questions will hopefully determine whether a diagnostic test is worth it for you.

All the best x

@NeonDreams you aren't a very good thinker then if you'd immediately jump to having an abortion without any follow up tests.
And even with out them, it means that out of 104 babies born, one might have DS. It's not that high really...

[quote Rinoachicken]@NeonDreams nowhere has the OP even suggested termination being an option.

Perhaps she just wants to be well informed![/quote]
One of the principles of ethical medical practice is that if the outcome of a medical test will not change the treatment/course of action either way, the test should not be done.

[quote Horehound]@NeonDreams you aren't a very good thinker then if you'd immediately jump to having an abortion without any follow up tests.
And even with out them, it means that out of 104 babies born, one might have DS. It's not that high really...[/quote]
You aren't a very good thinker if you think a whopping 1 in 104 is 'not that high really' ? Are you serious?

I had a 1 in 23,000 chance of having a baby with a chromosome disorder. I was the 1.

I had a CVS test to confirm. But I did this based on the fact a specialist fetal consultant saw things wrong with the baby during an in depth scan which correlated together with the Nuchal fluid to indicate I had a high risk of a chromosome disorder despite the blood work. I was saved a lot of additional future heartache by the woman carrying out my scan basing further investigations on a slightly high but not abnormal nuchal fluid.

I would consider 1 in 104 to be high risk and I would request further medical assistance to help me understand the risk and make a decision. But that’s me.

I had a 1 in 11 chance of my first child having Downs. (I was 31.) This was based on nuchal fold readings. The blood test changed the chance to 1 in 80 which was still considered high risk. We then had a CVS test done which showed no chromosome issues at all. It was a very stressful time so my thoughts are with you.

I had a result of 1in 90 when I was pregnant aged 24. We met with the consultant and she agreed to carry out a more detailed scan to check for overt markers of Down Syndrome. There were none and so we decided to decline any invasive testing as I felt the risk of amniocentesis was too high. Hope you can access further information and support where you are.

Mine was 1 in 500,000 at your age so yes, yours is high and you should have further tests.

@NeonDreams, you would terminate a potential (and probably) healthy pregnancy because of a risk factor, without even taking a diagnostic test first?

@suspiria777 My understanding is that, even if you're planning on proceeding with a pregnancy in a case of suspected Down Syndrome, it is worth having a firm diagnosis if possible because there can be complications on delivery/immediately after birth (e.g. cardiac issues) which they can prepare better for if they know its coming.

Of course it’s low, it’s less than one percent. People perceive it as high because of the negativity surrounding having a child with Down Syndrome.

[quote Somethingsnappy]@NeonDreams, you would terminate a potential (and probably) healthy pregnancy because of a risk factor, without even taking a diagnostic test first?[/quote]
I was talking as that was the result of the diagnostic test! Hence the question from the OP.