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High risk for trisomy 18 - Edwards' syndrome

(23 Posts)
whinegums Tue 12-Feb-08 17:32:51

Hi. My consultant called this afternoon to say my blood screening result (at 19+5, done 2 weeks ago) had come back with a very high risk for trisomy 18 - 1 in 42.

Risk for Downs was less than 1 in 8000, v v low, abnormally so, for my age - 35. I'm booked for a detailed scan on Thursday, and I know there won't be any definite answers til then at the earliest (41 in 42 chance of everything being ok), but I'm just freaking out a bit.

If anyone has any experience of this, I'd be so grateful to hear from them.

Is the Downs risk so low because my baby definitely does have Edwards'? There didn't appear to be any soft markers on the scan I had at 19 weeks - heart all looked absolutely fine, and the sonographer said everything else was 'lovely.' Would something have shown up then for a baby with Edwards'? At least one thing? Having had a look through a lot of info on the net (fast reader!) it seems 90% would have a heart defect; and also high incidence of other disorders. I keep looking at my scan pics, but of course I can't see anything.

Rhubarb Tue 12-Feb-08 17:38:55

If your baby had Edwards' Syndrome they would have usually seen water around the brain on the scan.

You will know more at your detailed scan. But for now I wouldn't panic too much. There is no definite way of telling if a baby has Edwards or not, but as a syndrome it is very very rare indeed. Yet if you look up the incidences of doctors telling women that their babies might have this, that statistic would be very high. I don't know why but it seems that quite a few pregnant women get told they are a risk for this.

Don't panic.

PortAndLemon Tue 12-Feb-08 18:00:00

It depends on which screening test they did exactly what they measured, but the blood test will have looked (possibly among other things) at levels of AFP, hCG and estriol.

A high-risk Down's Syndrome result will typically have unusually low levels of AFP and estriol but unusually high levels of hCG. A high-risk Trisomy 18 result will typically have unusually low levels of all three.

So your Down's risk isn't low because your baby definitely has Edwards'. It'll (probably, not having seen your results) be low because you had relatively low levels of hCG, and that is very unlikely with Down's (where you would expect hCG levels to be abnormally high).

I am not an expert by any means, and there are no guarantees, but I would have expected something to show up on the 19 week scan if your baby did have Edwards' Syndrome.

bundle Tue 12-Feb-08 18:09:37

i had a high risk from my bloods of Edwards Syndrome with my second pregnancy too.

my consultant did an amnio for me and kept saying what beautiful fingers/toes my baby had - often Edwards babies have crossed digits/talipes, though not always.

my result came out fine, but I was glad I had teh test.

CAT me if you need any more info ,xxx

justjules Tue 12-Feb-08 18:15:08

what a worry for you,

the advice here sounds good though, especially about the thing port was saying about what they look for,

i am sure (again no expert) that there would have been something showing, soft markers (is that what they call it) at 19 weeks,

i hope that the scan on thursday will help put your mind at ease,

i am waiting for the results of my bloods done at 16 weeks and it is a hard and anxious time,

cece Tue 12-Feb-08 18:18:32

Can I suugest you contact ARC which is a charity that advises about antenatal testing. They were lovely when I phoned them followng a high risk of Down's screening.

callmeovercautious Tue 12-Feb-08 18:21:36

My Sister had a similar test result and her DS is absolutely fine (if you can excuse the 4 year old tantrums he can throw grin).

whinegums Tue 12-Feb-08 18:26:07

Wow, super fast replies. Thank you thank you thank you. Trying to stay calm and positive. PortandLemon, thanks especially for explaining the tests, I knew what they measured, but not what it all meant. I haven't actually seen the results myself - I called the clinic on Friday and was told if anything had been high risk I would have heard within 3 days so everything was fine. Obviously not the case. Of course I then spent the weekend telling everyone the news - had only told a few friends and my parents I was pg uptil then.

Justjules, hope you get your (good) results back soon!

whichwitch Tue 12-Feb-08 18:38:33

Hello - Wanted to say another one who was in the same boat as you - 12 week scan seemed normal but came out with very poor odds for edwards (and another) after blood tests - having spoken to the consultant who was adamant that it was not Downs - I went ahead and had an amnio - all Normal and Lovely DD just turned 6 - I am sure you will be writing a post like this in the future. I do know how you feel we had also just announced the pregnancy in public and I had a couple of weeks that I needed to wait - I remember trying to detach myself in the interim period - its a great feeling when the test results come back - I got a call 2 days after the anmio indicating 99.99 negative results.

whichwitch Tue 12-Feb-08 18:39:55

Hit Post too soon - wanted to wish you good luck and send positive vibes.

NAB3wishesfor2008 Tue 12-Feb-08 19:14:44

My son had 2 markers and they said it could be Edward's syndrome but didn't say Downs. If you have any Q I will try and help. In the meantime, call the ante natal reuslts line. They are lovely and very helpful. Do you know the sex of the baby?

Rolf Tue 12-Feb-08 19:26:00

Not an expert but I'd have expected a baby with Edwards to have abnormalities apparent on the scan.

A scan showed that my DD had agenesis of the corpus callosum, which is a marker for Edwards. She doesn't have Edwards and is fine. Hope your baby is too.


mrslurkalot Tue 12-Feb-08 19:37:02

Hi there, so sorry you are going through this. I had high risk results for both downs and edwards following combined nuchal scan and blood tests (my risk for edwards was 1 in 7) I had a CVS test and all was fine. I also would have thought that some markers would have been evident at your scan. I remember very clearly how awful this time was and I hope your outcome is as positive as ours was. I would second ringing ARC - they were brilliant when I called them and really helped me understand the risk. Take very good care of yourself xxx

whinegums Thu 14-Feb-08 13:14:53

Hello, thanks again for the messages. Just wanted to update - had the scan this morning and everything looked absolutely fine - no problems spotted at all, and the doctor was very reassuring that everything is ok. I have had the amnio anyway, and will get fast results by Monday. Even though everything looked ok, I want to be 100% sure.

NAB - we found out for definite it's a boy!

NAB3wishesfor2008 Thu 14-Feb-08 13:16:19

That is great and also good in a way as Edward's is more common in girls.

Let us know how the results go. I decided not to have an amnio but I understand your need to know for sure.

whichwitch Thu 14-Feb-08 13:29:43

Congrats - and look forward to that great feeling when you get those results - I was told at mine that he saw nothing and would expect to be able to tell if there was a problem - sorry you had to go through this but it is forward with a smile now!

birdiezmom Wed 26-Mar-14 07:37:52

I just had the same diagnosis at 13 weeks but all ultrasounds look great. You all made me feel so much better. Glad toknow im not alone.

squizita Wed 26-Mar-14 08:39:18

In case anyone reads this and worries... low risk for Downs over 30 (1) isn't that 'abnormal' (see thread above) and crucially it doesn't relate to any increased risk of anything else.

Princess2k16 Thu 15-Sep-16 21:14:56

I'd like to introduce myself my name is kerry and we run a foundation for children with life limiting disorders.Our daughter has Edwards syndrome Full trisomy 18 and it needs to made awareness off as now more and more pregnancys in the UK are now being diagnosed we sadley didn't know until she was 6 weeks old she is now 2 and still fighting it every day.
If Anyone has or knows of anyone with Edwards syndrome Trisomy we would like to support you along the journey as we have first hand with hospitals who refuse treatment as it says incompatible to life I'm sorry that's a load of rubbish there is hope there is survivors and we would like to support your through it .
If this thread is on the wrong posting my apologises I am new to mums net so needing guidance to get this post around in the right threads xxx

Oysterbabe Thu 15-Sep-16 22:23:55

Hi Princess,

You would be better to start a new thread as this post is likely to be missed. You could also post it in the Antenatal testing section.
I wish you and your family well flowers

Princess2k16 Thu 15-Sep-16 22:57:32

Hi oysterbabe.
Thankyou for a reply I shall try and look for that thread in the morning and post a new thread too.
Thankyou flowers

Babymum123 Thu 24-Nov-16 17:05:13

Hi all,

Wanted some advice really. I had my 13+5 scan yesterday and all looked okay on my scan. Had my bloods done for downs and Edwards and my risk for Edwards come back 1 in 22. I am awaiting harmony tests to come back but it's two weeks. Had anyone had similar situation ?

sweetchilli77 Thu 24-Nov-16 19:30:34

Babymum123 go to "antenatal tests" board they have loads of people in the same boat, very good advise and experience with this. I came back as 1in 5 for downs. I used the threads and it was so helpful

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