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

[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]
TBH your post that @ViciousJackdaw quoted came across as very judgemental.
As they pointed out, termination for any reason is Ok.

Tarama means screening in Turkish, apparently (Google translate). It's not possible to know what type of screening was done without more information.

If you received the results, it should have an indication of what type of test it was done.

@Lai91 regarding the 4D scan, my first DD has downs and when I had my second, I paid for a private 12 week scan plus nuchal fold test as they weren’t offering it on the nhs at that time. My sonographer said she could tell straightaway on a scan if a baby has DS but they’re not supposed to say without a proper diagnostic test. But she did tell me my second DD didn’t have Downs.

That is interesting, Lwej, that Tarama just means ‘screening’ when translated to English.

That is very high, yes. I’m in my thirties and my chance was 1 in 35,000.

I'm currently aged 34 and heavily pregnant with my 4th. If it helps to put it into context my results cake back as less than 1 in 10,000 so I would say you would be considered high risk.

An amino can be completed in order to confirm one way or another.

Hope all is ok with your baby x

I know the OP has had a version of the Harmony test and that test isn't what this thead's about, but:

i wanted to just warn anyone reading this and thinking of having the Harmony test that it is possible to have an ''inconclusive'' result. Twice. It happened to me!

Very disappointing if no one has warned you this can happen and you have it in your head that the Harmony test is a fool proof oracle.

The people at the London Fetal Medicine Centre were wonderful though. I eventually got the all clear through a transvaginal ultrasound anomaly scan which they didn't charge me for.

@Soontobe60, and as I pointed out, I didn't at any point say it wasn't OK, but simply asked a question of a poster who wrote a nasty response to the OP, that was quickly deleted. And needless to say, this isn't a thread about the ethics of abortion. Please stop derailing, especially if you didn't read the posts before they were deleted.

The chances for us were 1 in 500 of a certain issue. We were that 1.

But most aren't.

@Dramallama4

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

I work in a home for adults with learning difficulties, people have been with us for so long that we are now also listed for over 65s so they didn't have to move.

It is a lovely place, all of us who work there say if we ever need to go into a home it is where we want to be. When one of our guys was in hospital staff sat with him even when they were off shift, staff who had left years ago visited as well when they heard.

I hope when the time comes you find somewhere similar.

Op, will be having a 20 week anomaly scan where you are?

I know you said you didn't want further tests as you wouldn't terminate a baby with Down Syndrome but I would warn that there are some health conditions that are much more prevalent in T21 babies. I know someone who has a baby with down syndrome and as they rejected any testing they were very unprepared for how ill she would be when she was born. Luckily she pulled through very well but it was obviously a terrifying time for the parents and they were completely unprepared for any of the complications that arose.

@Soontobe60. Just to add, it will have come across as judgemental if you hadn't read that poster's original message. As it was, I wasn't being judgemental, but asking for clarification on the matter. And rightly so, because as it turned out, she had misunderstood. It was relevant because she was advising the OP, but without the correct information.

When I was pregnant at 42, my NHS triple test result came back as 1:240, which was considered low risk for my age. Scans showed my DD’s nuchal fold measurement as low, strong nasal bone, long femurs etc. Imagine our surprise when she was born with a tiny nose, several large holes in her heart and an extra chromosome.

My advice is that if you want a clearer idea of whether your baby is likely to have DS, get the NIPT.

@JW2021

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!

The nuchal measurement for my DS was 3mm and the chance of Down Syndrome was 1 in 20. (He doesn't have it).

1 in 364 for us. We were also that 1.

We had a 4D scan at whatever the optimal window for them are (30 weeks?) And even though in hindsight the baby had some distinct features, this wasn't raised or mentioned to us at the time.

If the diagnosis doesn't affect your plan, do the research and assume you'll be the 1 in 104.
NIPT is a great tool but do bear in mind it's a screening test, not diagnostic. More likely to have an outcome like 99% but you might get an odd percent like 83% and not have a concrete answer.

My son is almost 2 and we absolutely adore him.

@Warrickdaviesasplates

Op, will be having a 20 week anomaly scan where you are?

I know you said you didn't want further tests as you wouldn't terminate a baby with Down Syndrome but I would warn that there are some health conditions that are much more prevalent in T21 babies. I know someone who has a baby with down syndrome and as they rejected any testing they were very unprepared for how ill she would be when she was born. Luckily she pulled through very well but it was obviously a terrifying time for the parents and they were completely unprepared for any of the complications that arose.

Really agree with this. Higher risk in children with Down syndrome of quite a few anomalies including heart defects. These things are much simpler to manage if known about antenatally, so if needed a baby can be born at a bigger centre with the right expertise.

@ancientgran
Thank you, that’s reassuring to hear. It’s a thought that sometimes keeps me awake at night.

Statistics are not always correct. Yes you are to believe that out of 104 babies, yours will have DS. But you can't get higher than 1 in 2 which means it's a 50/50 chance. It's just an indication.
Can you afford a blood test like the harmony, where they look in close detail at chromosomes and can give you a fat more accurate idea. It's about £400-500 but worth it for peace of mine.
What was the NT level during the scan?

Sorry didn't read the full thread 🙈

[quote Dramallama4]@ancientgran
Thank you, that’s reassuring to hear. It’s a thought that sometimes keeps me awake at night.[/quote]
I understand it can be such a worry. Alot of our guys came when parents got to a certain age and wanted to plan, so found somewhere they felt they could trust.

There are good places out there. Good luck.

The doctor who performs the 4d scan will presumably be looking at the nose for the absence of a nasal bone (common in babies with Down syndrome) and the nuchal translucency, which is an accumulation of fluid behind your baby's neck. A higher NT typically indicates there is some sort of chromosomal abnormality (but not always).

Hope that helps!

1/44 chance at the tender (also naive) age of 19. Discussed, researched, went ahead. It was never really a thing or an issue it was just making sure we was in the right head space for What we fully expected would be.

Healthy child hes 10 now.

My brother had downs, he died when he was 18, few months before my lad was born.

You do you but i would say its quite a high risk.

I had a 1 in 3 chance following testing - I was pretty sad and worried!

DD is now 5 years old, she is happy, healthy and a real firecracker! The fact that she has Down's Syndrome is one of the least significant things about her.

If you would like to discuss having a child with DS I would be happy to PM - best wishes with the rest of your pregnancy, hope it is easy and peaceful regardless of how many chromosomes your baby has x

[quote Somethingsnappy]@Soontobe60, and as I pointed out, I didn't at any point say it wasn't OK, but simply asked a question of a poster who wrote a nasty response to the OP, that was quickly deleted. And needless to say, this isn't a thread about the ethics of abortion. Please stop derailing, especially if you didn't read the posts before they were deleted.[/quote]
@Somethingsnappy Firstly, no where did I write a 'nasty' response to the OP, nor to anyone else (though I had thoroughly nasty and hateful posts to me, which thankfully have been deleted). All I said was what I would do. I even said that the OP had their right to come to their own decision.

Yes, I did misunderstand the first post, however I said nothing at all nasty (in fact, I actually made an effort to be as clinical and neutral in my wording as I could), however that did not justify the truly vile and vicious posts to me, including pitying my children and suggesting that a woman has no right to avail themselves of reproductive rights or else she is performing 'eugenics'. I know the vipers are notorious in AIBU but the responses to me were truly abhorrent and evil and nothing short of disgusting, and out of all proportion to a post that offered no other advice that no one else didn't already say before me.

[quote Somethingsnappy]@Soontobe60. Just to add, it will have come across as judgemental if you hadn't read that poster's original message. As it was, I wasn't being judgemental, but asking for clarification on the matter. And rightly so, because as it turned out, she had misunderstood. It was relevant because she was advising the OP, but without the correct information.[/quote]
I did read the original message.
I have been in the OPs position, and it’s truly an awful position to be in. Your post - you would terminate a potential (and probably) healthy pregnancy because of a risk factor, without even taking a diagnostic test first? - comes across as judgmental.
Perception is everything. Fortunately in the UK women are able to make their own decisions on what happens to their bodies, we don’t need any justification. I, and no doubt others, have read your post to be questioning a choice that someone else may make. The OP asked for advice on test / screening results, not a discussion on a decision whether to terminate her pregnancy or not. Your post was the one that derailed this.

OP, I totally understand what you’re going through. I’ve been there. I ended up having amniocentesis as I needed to be fully informed of the facts rather than the potential risk. The result was negative so I didn’t have to then make a choice over termination or not. I didn’t know at the time what I would have decided, and still to this day don’t know if I would have had a termination or not had the result come back as positive for Down syndrome.