1 in 64 chance of Down’s Syndrome

[Amyeliza93]

Hi,

my second spiralling post of today. On our 12 week scan it showed the baby had a cystic hygroma which was slightly above average at 2.8mm - with some separations in the fluid. This is often linked with conditions such as Down’s syndrome, Patau’s & Edward’s.

Got a phone call back from fetal medicine this afternoon and they said that the chance of P & E is 1 in 5,000 so considered low risk. However, the chance of Down’s Syndrome is 1 in 64. It’s our first baby and I’m literally going out of my mind with stress, anxiety and worry. I guess you just expect it to be somewhat plain sailing!?

Have now been referred to University College London Hospital for a further scan then, based off the results either NIPT or CVS.

I’ve been a mess all day since we had the scan yesterday. Can anyone offer some reassurance 🥲 I’m absolutely terrified.

Thinking of you at this stressful time, but try to remember that it is still 63-times more likely for your baby NOT to have Down Syndrome.

My son was 1 in 10. He didnt have downs sydrome however he is disabled with a learning disability. The point im trying to make is that any child can be disabled even without those tests so worry not. What will be, will be.

So 63 children in that category won’t have Downs Syndrome. I think you need so advice from people experienced in this. There may be charities who can help if you google.

Hi, this may not be the answer you’re looking for, but with my third pregnancy (testing offered due to age) I decided not to test. The reasoning was that if baby was confirmed as having Downs I wouldn’t abort anyway, and as most testing offers you ‘odds’ rather than a definitive yes or no, there was no point to it imo.
Its such a personal decision, but I felt that there was no point stressing over ‘maybe’ and I would just deal with the outcome either way.

My sister had similar. We were pregnant together and my pregnancy was plain sailing and hers was horrible, first they said he might have downs so she had the amneo test. Negative, then a heart condition, tested in London and negative. Then he was measuring big and she might have to have a c section (which she really didn’t want). Baby come out absolutely fine, normal size and nothing wrong at all! So try not to worry they can only see so much and often they are wrong. They just have to give you the odds. She did feel very picked on due to her high bmi so I don’t know if that is relevant.

As an aside guess whose baby ended up having a heart problem, me! Completely undetected and all fixed now but scary at the time.

Oh wow! @MyPolitePeachSloth Glad your baby is okay now but what are the chances of all of that?! Awful to hear but it’s made me feel slightly better that your sister went through all that and her bubba is fine.

None of this is what you want to hear from the hospital for your first pregnancy is it 😢

Exactly this, I didn’t test for any of my pregnancies. If you’re not going to abort why put yourself through all this stress.

No definitely not, but keeping everything crossed for you

I was the same.

What really annoyed me was I was given a leaflet about the 20 week scan which emphasised you should really think about the pros and cons of having it. And I chose not to have it.

Throughout the rest of the pregnancy the midwife kept dropping references to how "odd" the decision was and made clear she disapproved.

We had a 1 in 15 chance of Down’s syndrome with our second child. We did no further testing as we would not have aborted. At the 20 week scan no markers for Downs Syndrome were observed. Our DD did not have Down’s syndrome. Wishing you good luck

My DD was 1:19. I remember the nurse saying that was high, but I said "there are still 18 chances everything will be fine"... and she was. Sending you support 💐

My close friends baby was 1 in 25 chance of downs but when he was born he was fine.

I was given odds of 1 in 200. Unlike others on this thread, I would have had an abortion if the baby had been diagnosed with downs syndrome- it's such a personal decision for everyone, but I just wanted to give the other perspective. I had a CVS and was given the all-clear. Good luck OP.

My eldest was 1/30 and the nuchal fold was bigger than average. Did an amniocentesis and there was no issue with him. This was 20 years ago.

But surely even if you're going to keep the pregnancy, it's better to know if there are any problems with it? You can get pre-natal care that's appropriate, and have a medical plan already in place for when the baby is born.

Possibly, it depends whether the condition diagnosed at the scan is treatable or not.

What annoyed me was being told by one section of the NHS that the decision to have a scan should be given careful thought and then the midwife implying that it was weird and wrong not to have it.

Better for you. People are different. It’s a very personal choice.

OP, I hope you are OK? I know that it’s really terrifying when you walk into what should be a joyous occasion, and you come out shell shocked. I’ve been there a few times.

Like I mentioned earlier, my first child had an above average Nuchal Fold (now described as a different term that you’ve used). I had further tests and it was nothing.

With my second child, I was told at my 20 week scan that he had enlarged ventricles and no corpus callosum and I suggest you don’t look that up. By the time I had my 20 week scan, it was 23 weeks and by the time I got to see a fetal medicine specialist I was 27 weeks. At one point I was on my knees in front of the altar in my local church begging God to not do this to my baby and I’m not that religious! At 27 weeks I was told he didn’t have anything missing but did have large ventricles that may cause a problem. He was brought out at 35 weeks - and was perfect! This was not in the UK in case anyone doesn’t recognise this sequence of events.

My first child was completely fine too with the 1/30 odds of downs or other.

I’ve had 2 amniocentesis - not pleasant!!!

One thing I learned along the way is that all this tech is a double edged sword. These statistics and measurements and boundaries do some good, but also terrify the life out of us. Where I lived overseas there was a company set up by UK and US midwives who offered support services to pregnant and new mums and they basically told me that doctors don’t always get it right.

My bet is that if many of us didn’t do those diagnostic tests on our unborn babies we would never have known they had a bit of extra fluid on their neck because the baby came out perfect. Instead we end up going through the pregnancy stressed and upset and like me weighing less giving birth than before I got pregnant due to stress and anxiety.

If I had believed my first doctor I would not have had my beloved 2nd son. Always get a 2nd opinion. It turned out the boundaries/ measurements of ventricle measurement they took at my hospital overseas were narrower than the uk and if I’d done it here it wouldn’t have been an issue.

OP I look forward to your update in a few weeks where you come on here and say everything is ok.

Loads of hugs and best wishes OP

I know how scary it is OP - medics can use statistics to scare you not a course of action that they approve of.

As pp have said, if you would abort for Down S then it might make sense to have further tests. But bear in mind that 1 in 65 is actually 1.5385%. So there is a 98.5% chance your baby is fine.

I was an "elderly" mother - late 30's when i started having children - I had no tests as we decided we would not abort for disability. My charming (female) GP told me that I had an "extremely high" chance of having a baby with Down S because of my age (38) of 1 in 200. She filled my hands with leaflets about amnio (the only test available back then). I did read the leaflets - which told me how safe the test was - but that there was a very slight risk, of 0.5%, of it causing a miscarriage.

Being mathematically literate I knew that the very HIGH risk of 1 in 200 was exactly the same as what they called the very SLIGHT risk of 0.5%. The figures were being used to push women towards having the test....

The choice is yours, weigh up the options and make your own decision, but the actual odds are very much in favour of your baby being fine.

One of my pregnancies came back as 1 in 31 risk. I was so very worried, but I felt better when I looked at the percentage chance that everything would be fine. I figured if I knew I just had a 96.7% chance of my baby not having Down’s syndrome before getting pregnant, I’d have still chosen to get pregnant. I had the NIPT test and it came back as like 1 in 5000 or something, so I only had about a week of worry really. And baby arrived just fine. Personally I wouldn’t have had an amniocentesis test due to the risk, and I wouldn’t have aborted anyway.

I was actually extremely upset by the casual manner in which it was suggested I think about termination. I obviously enthusiastically support reproductive rights fwiw, but there was this distinct sense that as soon as that 1 in 31 came back the midwife started speaking so callously about my baby. Then when the NIPT came back and confirmed all was fine, suddenly we were back to the cutesy precious little baby talk. I found it so very upsetting, as my feelings for my baby were not altered or diminished by the idea they may have had DS or any other issue for that matter. I obviously acknowledge they have to ensure women know their options, but the sudden change in tone and attitude was appalling to me.

Baby can be born in a setting with specialists if you know it's a Down's Child. Some need intensive care.

I would test and know to secure baby the safest start possible.

You’ll still have the scan, but just as a dating scan rather than as part of the combined test.

My first daughter has Down’s syndrome, diagnosed postnatally (after having got a 1 in 1,900 chance in the combined test), and having been blindsided by that news, delivered in a really crappy way by a consultant, I think I would always choose having the foreknowledge antenatally. So, I had the NIPT with my two younger children just to ensure I’d never have to repeat the spoiled first day I had with my amazing eldest.

Our baby’s nuchal measurement came back over 5x normal, and we were told to consider what we would do if a further test (a CVS) showed Downs.
It came back clear.
So consider calmly what you would do and when you have the facts you can decide.

My dad was wonderful while we were thinking about this. He and my mum lost a baby to another genetic disorder. He said he had always taken comfort from the fact that this meant they had not had to care for a disabled child, and there is nothing wrong with deciding that that is a task too big for you. To devote your life to a child who dies early would break many people, and it is ok to take the decision to avoid this.

Not if there if the procedure increases the risk of miscarriage (as it did when I was pregnant)

I was given the same 1 in 64 chance with my daughter almost 20 years ago. I followed up with a CVS and all was well, no issues. Wishing you all the best, I am sure it will be okay xx