High risk Down's....amnio....your experiences please.

[bramblina]

I have been given a 1:109 chance of baby having Down's Syndrome. We have decided to have the amnio, probably on Monday. I have 2 children and have had 5 miscarriages......my head is spinning.

If you have anything to tell me then please do.....just anything.

Bramblina, so pleased for you. I hope you can now have a healthy and relaxing pregnancy. I should find out latest Monday. Really glad you got good news x

Tupperware, I'm glad you were able to make that decision. It's wierd, I was taking a risk (miscarriage, 1%) to avoid a risk (down's, less than 1%) yet just had to know.
jdutch, how come your results will take till Monday? I'm not too sure of the difference of cvs and amnio, I must read up. I actually thought cvs was quicker but not offered in all hospitals. I hope it comes quicker and you get the results you want. Make sure you do let me know. x

I'm praying it won't be as late as Monday. I was told 3-5 working days. I had to go to a specialist hospital in London so maybe they have a long wait time as its a regional centre? Myself and my eldest daughter now have a vomiting bug, excellent timing. Not the distraction I wanted, but a distraction.

jdutch I had a cvs recently at St George's in London (in case that was where you went) - I had it on a Friday afternoon and they phoned me with the results Tuesday lunchtime, so much quicker than the 3-5 working days I had been told. Hope you get an answer before the weekend and it's a good one.

Are you also having the full karyotype? We did and again, it was quicker than we'd been told - about 9 days rather than 2 weeks I think.

Thanks minipie. Yep, st George's and yes to the full test. Hopefully I'll hear prelim results tomorrow then.

fingers crossed for you. x

I had a 1:4 chance of downs with ds2 and he was fine. he has a slight heart defect and a genetic disorder, noonans syndrome, which is mild and cuases him few problems, these two things also lead to an increased nuchal fold, so it doesnt always mean downs.

Great news Bramblina, try not to worry too much about miscarriage risk. The hospital told me that the risk is only elevated in the days following the amino then returns to normal risk for any pregnancy. Take care x

Thanks jeunemaman. Hosp did say up to 2 weeks but the lady said all it means is basically if anything happens after the 2 weeks it cannot be associated with the amnio.
missmapp that's interesting, did you get the high rate because of the noonans? Or was it just a massive coincidence? I understand the "risk" reading comes from a mix of 4 hormones in the blood plus some stats- age, weight etc. Was there a similar hormone? I have heard the name noonans but that's all. What does it entail? Does it affect him?

Such interesting stories and good to hear we all come from such different ones!

Brambalina- Im not sure if I got a high rate because of the noonans, its just my own theory. He wasnt diagnosed with noonans until 2 yrs old. noonans has lots of different issues, but ds had slow growth, pulmonary valve stenosis and some other issues over bone shape, but it really deosnt affect him and, as it is not a progressive condition, we know what we are dealing with.

When pg with my other son , I had a 1:34 chance of downs, we didnt test with him either, but he is also clear and has no health issues. It is a strange old world!!

My friend had high odds but chose not to go through with the amnio. Her DD is now a healthy happy perfect 5 year old! Who happens to have downs. She's wonderful.

I was told Noonans was the most likely issue with baby when DS was ruled out by amnio.

Can I ask you missmapp does your DS have any visible signs of Noonans? eg low set ears, thick neck etc? My DS has pectus excavatum but no other visible features but it has never been followed up.

Hi, just to let you know I heard from the hospital today and it is Edwards syndrome. I have to have a termination. I am heartbroken. Not sure how I'll get through this.

Jdutch - i only just discovered this thread and saw your post. I am so sorry about this. there has been similar sadness in our extended (but close) family and it is simply heartbreaking. you will find a lot of support on this website from people have been through, and survived, similar situations - i hope some come along soon to help - though you may wish to start your own thread to find the right people?

sorry i cannot be of any use, but just wanted to know i was thinking of you.

Auntpepita- ds2 has some signs of noonans, thick neck, low set ears, deeply curved chest and very small!! ( inc a small willy, bless him) But, these are not pronounced, so he doesnt 'look' different. Does your ds have a diagnoses?

Sorry, juditch, just read your post, my heart goes out to you xxx

jdutch I am so sorry for you . Sending you very un-MN (((hugs))).

jdutch I am so sorry you are in this situation. I had a termination last year at 12 weeks as the baby had anecephaly.

I know it's painful and hell on earth. Please feel free to message me if you need to talk.

Jdutch so sorry to hear your news. Xx

I am so so sorry.

Oh jdutch I am so sad for you. You got the news no-one wants to hear, and would take away for you if only we could. I can't imagine how you are now, but hope we can help in some way? The support I got from this thread alone was unbelieveable and I hope you get some too. Please let us know how you are?

Sending lots of love xxxx