High risk for Down’s syndrome and Edwards and Pataus syndrome

[Lockdownbabies]

Hi all just had results back from combined scan and there was too much fluid at back of babies neck my results have come back as
1:11 chance of Edwards and Pataus
And 1:41 for down syndrome
Anyone had similar results but baby has been fine???

@Itsoverpeople- I'm glad you had a good outcome, that it great news.

@Lockdownbabies- Even a 1 in 11 chance, it still over 90% of not having Edwards or Patau. To answer your question, I found the medical management side effects the worst part. I got nausea, diarrhoea and a high fever. My face went beetroot red and I felt like I was burning up. These aren't reactions, just side effects. I managed the whole thing with 2 paracetamol, and these were only given due to my fever! In hindsight, I wish I'd asked for analgesia earlier. It was my 1st pregnancy, and the cervix opening was the most painful, but I got through it with walking around the room. That bit was bad for only about 30mins, but not enough that I called the bell for anything stronger. The cramps beforehand were like stronger period cramps, but bearable.

Sorry if TMI, but one thing I'd never even considered was that I'd have waters break. I guess I assumed that was just full term that this happens in. Another thing I'd never considered was being asked what we'd want to do with the foetus. Our options were to organise a private funeral, bring it home to bury in a pot or it goes with other losses to a group cremation in the baby angels part of the local cemetery.

@Elouera oh that doesn’t sound very nice so you had to stay in hospital?

Oh god waters break? You don’t actually give birth though do you? That would be awful!
Omg I’m so sorry to hear that Iv not even thought about them asking what you’d like to do with the foetus

A microarray looks at all chromosomes in detail. So Amy tiny deletions or duplication. There are many recognised syndromes like William's syndrome and di george syndrome. Di george ( chromosome 22 microdeletion) is relatively common. Wide range of variability in abilities.
My ds has a microdeletion syndrome. (He is awesome)

@Embracelife I’m not sure what any of those syndromes are! I’m sure your ds is awesome
How do I go about getting one of those tests do I need to pay or will they do it automatically

There are many many such syndrome so if the measurements is very high then might be worth looking beyond the usual trisomies . So you can be informed. Not being one of them does not mean no issues. Or maybe it s something fixable.

@Embracelife how do I go about getting tested for all those

1:25 chance of DS. Had amino which came back as negative. My consultant said if I'd been 5 years younger the risk would have been negligible. I hope things go well for you.

Ask them to do micro array and to look at other conditions/syndromes not just downs patau Edward's. . Given the high reading they should do this on nhs. Did you get repeat scan to check measure ment?

Not many people do realise or know or think about other syndrome and conditions. That's the irony. So much focus on the three trisomies so it is easy to not realise there are hundreds more . !
Individually rarer or not so rare but count them altogether and many many people . With a wide range of ability.

I'm sorry to hear you're going through this 😞 we had an NT of 6.1 and had our CVS a few days later. Our results from the blood test were fine for all 3 main syndromes but the results from the CVS showed that our daughter had Turner's Syndrome. This is quite rare though, only 0.05% chance of happening. We made the sad decision to have a TFMR when I was 16 weeks.

Depending on what your outcome is I can give you an idea of what the TFMR will be like but let's not get ahead of ourselves. You'll read many threads on here of women with high NT's and all turns out to be just fine! Good luck with the CVS tomorrow. Make sure you take it easy afterwards as your tummy might be a bit sore x

Screening for ds patau Edward's can be clear . But it does not mean no other condition....microarray picks up a large number of conditions (not all).

@Embracelife well I’m going to have a scan tomorrow to check the measurements then will have the CVS straight after

As for microarray, I believe the CVS looks for a few more than just the 3 main syndromes anyway, which is how our issue was picked up. They did say if the CVS came back completely clear, then they would automatically send it back for further testing. CVS results took about 2 days and they said if they had to send for further testing, that could take up to 2 weeks (but obviously we didn't have to have them sent off again).

@otterbaby did more tests pick something up or did they come back clear also

@lockdownbabies. It was 1:5 for Edward's and Patau syndrome. For Down syndrome it was in the thousands.

I was in IKEA when we got the result and also were told we were having a boy. It was a huge relief.

@Itsoverpeople glad was all ok for you 😊

@Lockdownbabies we got our result from the CVS, so they didn't have to send away for further testing x

@otterbaby we’re you not worried could have been something other than the 3 syndromes? Or do they actually test everything with CVS
Also did the CVS hurt I’m very nervous about having it done tomorrow

Have you been referred to fetal medicine? I had an NT measurement of 8.1. Edwards / Pateu’s risk came back as 1:2. Fetal medicine told me that a measurement so far above ‘normal’ was likely to indicate abnormalities even if the chromosomes come back as normal. It was taken out of our hands in the end as when I went for CVS it was found I had already miscarried. I’ve had 3 subsequent children where the screening came back as low risk even accounting for the previous result so I think there was likely a problem.

@LesbianMummies sorry to hear that,
I just have to wait and see

@Lockdownbabies I might not have been clear enough, sorry! We were in the clear for all 3 of the main syndromes, but the Turner's syndrome diagnosis was picked up from the CVS. Because that was 99% accurate, there was no reason to send off for the further testing. So the initial CVS will test for more than just the 3 main syndromes.

The CVS didn't hurt, no. They do give you a local anaesthetic in your stomach via needle which did sting a little bit. I was sort of unprepared for how much of a "procedure" it actually was. They will tape your stomach off and the nurses are all in scrubs so that was a bit intimidating. It can be a shock when they're doing the procedure because the needle is absolutely massive, about 10 inches long, and they pump it into you really quickly so it looks like it should hurt but you won't feel it. You just have to stay really still. I was a bit crampy afterwards but otherwise fine. Make sure you have plenty of snacks and a heat pad to come home to x

Fingers crossed for a good result for you 🎉

@otterbaby sorry might have been me misreading!
Oh ok that’s good then!
So are you still pregnant or you’ve had baby or?
I don’t know anything about turners syndrome I know pretty much about none of the syndromes except Down’s syndrome actually!

Oh that’s really good to know it doesn’t hurt sounds very intimidating though! Did you feel rough for couple of days or were fine after sorry for all the questions

Yes agree when you have the CVS ask them to do a full genetic screening for any syndrome they can, not just the 3 trisomies.

Also when you (hopefully) get to your 20 week scan, tell them abiut the high risk results and ask them to check extra carefully. (It should all be in notes but just in case).

1:11 is the same as about 9%. So it means there is a 9% chance your baby has the syndrom and 91% chance they do not.

@LeabianMummies thank you

And thank you @minipie I will make sure I ask them to check for everything they possibly can and will mention it at 20 week scan ( if I get there 🤞)

My CVS did hurt a bit when the needle went in, not awful pain but sore and a bit sore after. Just thought I’d mention in case the same happens to you.