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

@Ponoka7

That means that for every 104 woman in your circumstances, or getting the results you have, 1 will have a baby with downs. 103 won't. Are there any private tests you could get?

well no it kind of doesn't...it means at the point of infinity, all the women in those circumstances will have a 1 in 104 chance of having a downs baby....its an important difference...."chance" doesn't count up to 103 then go ok the next one will have Downs. Its perfectly possible for eg 1000 births in a row not to be Downs babies and then get 20 in a row who are.

@suspiria777 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. I was 39 when I had my youngest. I normally saw the Consultant but for one visit I saw the registrar, he noticed I hadn't had the blood test and said he had to do it as it was getting late for amnio if result was high risk. I said it was OK, I wasn't having the test. Argument followed with him shouting at me, telling me I was irresponsible and I HAD TO HAVE IT. I said I'd discussed it with Consultant and I wasn't having it. He sneeringly said he supposed I was scared of needles. It ended up with midwife intervening and he left.

When I next saw Consultant he asked me what happened and I explained, he asked if I was sure I didn't want it and I said I wasn't going to waste his budget on a test that would make no difference to me. He said not to worry about that, if knowing in advance would help me to prepare he was happy for me to have the blood test and then amnio if needed and there would be no pressure to have "treatment" i.e. abortion. I said no it wouldn't help and we agreed to leave it.

So some doctors will do tests even if it won't affect the course of treatment.

@ScrollingLeaves

@ Somethingsnappy thank you for correcting me.

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

Yes, a harmony test, although considered to be a more accurate indicator of risk than the NHS screening tests, can still only give a percentage estimated risk. Another test, called amniocentesis, is the test that can tell a mother for certain if her baby has DS, or other conditions with chromosomal abnormalities. But it comes with a risk of miscarriage, so needs to be given some thought first.

I think it's bad a doctor would do a test and not explain the results OP.

@ViciousJackdaw, also, I didn't say anything wasn't OK, I simply asked a question.

Get yourself to the antenatal test board OP, you’ll get vitriol in AIBU.

In your position I would ask for an amniocentesis/CVS and I would pay for it privately if it wasn’t available.

I think it is unethical to offer any of these tests without proper counselling re.the implications of them

With my first my chance of chromosomal abnormality was around the same chance of miscarriage had I gone ahead with amniocentesis. I declined to the surprise of the consultant.

With a history of recurrent miscarriage though, the odds still heavily on my side all would be well, and a disinclination to abort I saw no point in further testing

@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

Are you certain this was the Harmony test? I’m not sure it was.

I’ve never heard of a Harmony test giving a result like this, it is either positive, or very low risk (1 in 10,000 or so)

What was the nuchal translucency measurement?

Are you certain this was the Harmony test? I’m not sure it was.

It sounds like the Combined Test, which is nuchal translucency + PAPP-A blood. It could be possible that OP confused the blood draw for the PAPP-A with Harmony/NIPT which is also a blood test. At my hospital there was the option to do Harmony at the same time (obviously paid privately) so you are handed forms with info on Harmony/NIPT which can make it more confusing.

I agree there is some confusion here, afaik NIPTs like Harmony are much more precise than to give a fuzzy answer like "1 in 104"

And for those questioning the OP and the trading and the "negativity": having a child with Downs syndrome is life changing, in a way that having a child without a physical and learning difficulty isn't. It is in many cases a lifetime care commitment, but that aspect often doesn't become obvious to parents until DS children hit their teens.

When I was pregnant with DS I got a risk factor of 1 in 46. I was offered an amniocentesis which I had an which showed DS did not have downs.
The amniocentesis felt not much worse than a blood test. There is some risk of miscarriage but it is far lower than it used to be as they now do it while scanning the baby and they used to do it by feel. The amniocentesis gives a accurate answer as to whether the baby has downs so you can make decisions based on proper information, for me it was the best thing to do.

Given your age, that is considered a high risk but if you want to know for sure you’d need an amniocentesis.

No where in here do I see the NT measures of anyone? Mine was 2.1
I’m freaking out I don’t mind telling you!

“What is the Harmony test?

The Harmony test analyzes cell free DNA in maternal blood and gives a strong indication of whether the baby is at high or low chance of having trisomy 21 (Down syndrome), trisomy 18 (Edwards syndrome) or trisomy 13 (Patau syndrome).

The test identifies 99%, but not all, of the babies with trisomy 21, 98% of babies with trisomy 18 and 90% of babies with trisomy 13.
If you decide to have the test you will be asked to sign a consent form by one of our doctors or an appropriately trained member of our staff. We will then draw a small amount of blood from a vein in your arm. This may cause some discomfort but the sample is usually taken very quickly. Sometimes there can be some bruising after a blood sample is taken.“

Harmony test | Welcome to the Fetal Medicine Centre

fetalmedicine.com/harmony-test

@TickyTok

Are you certain this was the Harmony test? I’m not sure it was.

It sounds like the Combined Test, which is nuchal translucency + PAPP-A blood. It could be possible that OP confused the blood draw for the PAPP-A with Harmony/NIPT which is also a blood test. At my hospital there was the option to do Harmony at the same time (obviously paid privately) so you are handed forms with info on Harmony/NIPT which can make it more confusing.

Hi the tests were done abroad. They call it a tarama test which I think means quadruple test??! They took some blood 3 weeks ago and I got the results today.

This post isn't about an abortion. I understand any parent choosing this path but for me my child is a gift and if my baby has downs then I will want to know ASAP just so I can do my research beforehand and be prepared to be the parent my child deserves.

[quote Somethingsnappy]@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.[/quote]
I didn't see the comment too? I'm curious to what it was??

For now I have ruled out an amniocentesis. I am not considering an abortion so wouldn't want to risk a miscarriage. There's a DR here everyone recommends who is good at recognising down features via 4D scan? I have booked an appointment tomorrow. Apparently he can sometimes recognise from the nose shape and back of neck?? What does everyone think about this?

if my baby has downs then I will want to know ASAP just so I can do my research beforehand and be prepared to be the parent my child deserves.

In that case, and despite your wish to know, the best course is to wait. Unless you want to risk losing this child.

The baby, sadly, could still have a number of problems that aren't detected by the tests done before, or even right after birth.
Should the baby have Down's you will have plenty of time to prepare.

Meanwhile, enjoy your pregnancy.

@incrediblehux

I had a 99% chance of my baby having Down Syndrome after NIPT. That is high. I now have a lovely, healthy, happy 14 month old boy who happens to have Down Syndrome.

You might find the antenatal tests board helpful. Wishing you all the best.

This is heartwarming. Thank you :)

@pointythings

It really depends on your age - if you're in your 40s, that's low. If you're 25, it's high. It's impossible to tell without more information.

The chance is calculated based on, amongst other things, the mother”s age. If all other screening results were equal, a 25yr old woman may have a risk of 1/500 where a 45 yr old woman have a risk of 1/50

@Lweji

if my baby has downs then I will want to know ASAP just so I can do my research beforehand and be prepared to be the parent my child deserves.

In that case, and despite your wish to know, the best course is to wait. Unless you want to risk losing this child.

The baby, sadly, could still have a number of problems that aren't detected by the tests done before, or even right after birth.
Should the baby have Down's you will have plenty of time to prepare.

Meanwhile, enjoy your pregnancy.

Thank you. This has been a tough pregnancy from the start with a risk of miscarriage. I will try my best to enjoy my pregnant and hopefully I'll have my healthy baby (with down Syndrome or not)

Someone has to be the one ! I would ask for an amino or cvs with full micro array .. I think it's pretty high for 27 tbh

I will try my best to enjoy my pregnant and hopefully I'll have my healthy baby (with down Syndrome or not)

Yes. It's very easy to get anxious about everything. But that's not healthy for the baby either.
My best wishes for your pregnancy and your baby.

I put Tarama into search and got an academic paper in a foreign language. Then tried ‘translate’.
I apologise if it makes no sense but
maybe someone here knows what sort of test it was.

It is good you already feel sure about your decision whatever the outcome. It is understandable that you would like to be prepared.

“Multicenter study of first‐trimester screening for trisomy 21 in 75 821 pregnancies: results and estimation of the potential impact of individual risk‐orientated two‐stage first‐trimester screening
K. Nicolaides, K. Spencer, +2 authors O. Falcón
Published 2005
Medicine
Ultrasound in Obstetrics and Gynecology
To evaluate the performance of first‐trimester screening for trisomy 21 by a combination of maternal age, fetal nuchal translucency (NT) and maternal serum free β‐human chorionic gonadotropin (β‐hCG) and pregnancy‐associated plasma protein‐A (PAPP‐A). In addition, the potential impact of a new individual risk‐orientated two‐stage approach to first‐trimester screening “

Longtime lurker, joined to post.
I have a 15 year old with Down Syndome, the odds for me were 1/1200, nothing was detected from scans, to say it was a shock when he was born is an understatement!
It’s been a rollercoaster of a ride but he’s amazing, I wouldn’t change him for the world.
The only fear I have is the standard of care he will receive in residential care after I die. The thought of abuse terrifies me.
Good luck op