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

My post was deleted because it quoted Neo.

104 is high, but not extraordinarily so, but in any case OP has the option of further diagnostic tests. Scaring her into premature decisions serves no one.

I was talking as that was the result of the diagnostic test! Hence the question from the OP.

How would you have 1 in 104 as a result from a diagnostic test? Diagnostic tests don't work like that.

@NeonDreams, ah.. I think you've misunderstood. The OP has not taken a diagnostic test. The tests that give risk factors are not diagnostic. They can't tell for sure one way or another. They can only give an estimated risk. A diagnostic test would be an amniocentesis, which would tell the mother either a definite yes or no about any chromosomal abnormalities.

I am surprised it is that high. I had no idea. I would, ignorantly, and based on no data at all have though it might be 1 in 500 (across all risk category- an average) and even that feels higher than I had thought.

[quote queenatom]@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.[/quote]
...which is a different course of action on the basis of the test result.

That's quite high. When I had my last child aged 39 the risk was something like 1:15,000.

I had a similar result at the same age and was offered an amniocentesis to confirm if the baby had Down’s syndrome.

@Lai91 - have you only had the harmony test in way of screening (a blood test where they look at the babies DNA in your blood?) or have they also measured various bits of baby on an Ultrasound +/- given you some figures for various hormones in your blood?

In the UK screening isn’t done by harmony testing - that’s offered privately only. Harmony testing isn’t diagnostic. As others have said, if 104 babies had DNA that looked like your babies DNA on the harmony test, 1 would have Down syndrome. That is however considered ‘high risk’ irrespective of age. The NHS counts anything higher than 1 in 10,000 as high risk irrespective of screening method.

In the UK you would be offered amniocentesis with a risk of 1 in 104 as that is the only ways to definitively diagnose Down Syndrome in utero.

I’m sorry to hear that isn’t available for you. I suppose if there is no way you can access this, you need to consider what the risk means to you and your family. It’s a horrible situation to be in x

Seconding anyone who has said this thread would have appropriate responses on the ante-natal screening board.

I was given a 1 in 50,000 chance with dd1, when I was 40. Then an alarming 1 in 160 chance with dd2, when I was 42. The enormous difference between the two stats did worry me, partly as although I would not have aborted, I did have to think of any impact on my dd1 , which first time round would not have been an issue.
I didn’t have any further testing and she does not have Down’s.
In your case, can you not have an amniocentesis?

It depends on what you would want to do if your baby has Down's.
If you would want to terminate, then I would recommend amniocentesis, but if you just want to know and would carry on with the pregnancy, then do nothing more.

It may also depend on the health system you used, but if they didn't discuss it further with you, I'd think they are not particularly concerned or think it's high risk.

My friend was 1 in 4. She refused further tests and was having her baby anyway. Her baby doesn't have it.

My friend was 35 when she had her baby.

I do understand that statistically most who have a pre-natal diagnosis of Downs Syndrome (ie Yes your baby DOES HAVE Downs Syndrome, not you have a small/medium/large chance that your baby will have) choose not to continue with the pregnancy, but I would just like to add this:
Please do some research on what life with a family member who has DS is like before you make any decisions - not just health risks, chances of potential heart/lung/anything else defects, look at the life lived, there are so many people with DS who live life to the full.
check out:

l.facebook.com/l.php?u=http%3A%2F%2Fwww.dontbesorry.net%2F%3Ffbclid%3DIwAR0SUPtXgGUH9VNZKYnkPEuvXGk7nIqfQ0R2ACDyL0_RqWjqJ_A6cRfe_Fk&h=AT1ZUd5S1yfYAdaDD3jhI85K0U3G9qVqy_8KZzUDSKMLg7THtBj_dt01ZqY-3am9KZ9E5kjrDcLwf4pVR3n5NnAwVmGRfjZ63xJGC4mJD8swbWL53asTBwpBcSZxsAxq_Z0F1-eZUxkLK0kQ6dgBjg

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Also: Sally Phillips (actor/comedian - "Smack the Pony" "Miranda" and Bridget Jones's Diary) has a son with Downs Syndrome.

A child with Downs may need heart surgery/to wear glasses/use a hearing aid - so might any other child/adult.

It's fair enough to be scared/worried about what may happen, so find out what it might look like first, it's really not all bad.

I admit I'm biased - my elder daughter has Downs Syndrome (yes, my elder child, we chose to have another child and she doesn't have anything out of the ordinary at all). she is funny, impulsive, stubborn, and so much more, she makes us laugh and cry but I know that she has enriched our lives immeasurably.
I'm not saying don't get further testing, or if the result is a big fat yes to the extra chromosome, not to terminate it is your choice, but just to find out more before you decide.
The Downs Syndrome Association have lots of information, and hopefully there will be a local support group you can contact, and if you'd like to know more please feel free to PM me as well.

1 in 104 may seem like a certainty, but if you bet on a horse at 104 to 1 you'd be unlikely to win...

There is a relatively new test for chromosomal abnormalities you can have very early in the pregnancy called the Harmony test, which costs about £500 in the U.K. privately,

Amniocentesis is done at a later stage and used to run the risk of causing a miscarriage.

I am not a doctor. Perhaps a knowledgeable poster will come on to give further advice.

[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]
Termination for any reason is OK.

There is a relatively new test for chromosomal abnormalities you can have very early in the pregnancy called the Harmony test, which costs about £500 in the U.K. privately,

OP's updates indicate she had the Harmony test.

@ScrollingLeaves

There is a relatively new test for chromosomal abnormalities you can have very early in the pregnancy called the Harmony test, which costs about £500 in the U.K. privately,

Amniocentesis is done at a later stage and used to run the risk of causing a miscarriage.

I am not a doctor. Perhaps a knowledgeable poster will come on to give further advice.

The OP has already done the harmony test. Given the results, if in the UK (which she is not), she would be offered amniocentesis straight away.

@ Somethingsnappy thank you for correcting me.

So the Harmony test only gives an answer as a percentage of the chance?

@ViciousJackdaw, but that poster's replies to the OP were NOT OK, and why they were deleted. Not to mention that poster thought the OP had already had a diagnostic test. I presume you didn't get a chance to read them before they were deleted. My post would have made more sense if you'd seen them.

I’d want further testing OP. Mine was 1 in 22,000, which is considered low. I would suggest one in 103 is very high, and I would want to be reassured by further testing.

To help you with the statistical risk - at age 27 the average risk is 1: 1,050. So your risk is 10 times higher than an “average” women your age. Your risk is more akin to the risk of a 40 year old woman. If I was 27 with that result I might (depending on my view of having a child with Down’s Syndrome) want to seek some further testing. Or at least some additional discussions with my midwife / consultant.

Wishing you well.