Hi.

I had a blood test and ultrasound done and they combined into a really high risk of having down-syndrome baby. It's one out of five and I realize I still have a 80% chance of having a healthy baby, but I'm still so worried and can't stop crying.

I will have a chorion biopsy done next week.It's dangerous, too, of course. But I'll take the risk. If it takes back positive, I'll probably just go mad...

Have any of you had such high risk or similar and still had a healthy child? And if so, what were your reasons for high risk? Also, any numbers with confirmed DS would be helpful. I know it doesn't mean much, but... antway.

My numbers resulting in high risk are:
Age: 34
2 healthy childs
gestational age: 12+2 weeks
fetal heart activity: regular
fetal heart rate: 161 bpm
crown-rump length (CRL): 59.0 mm
nuchal translucency (NT): 2.5 mm
nasal bone: normal
facial angle: 87
tricuspid doppler: abnormal (regurgitation)
ductus venosus doppler: normal
choroid plexus cysts: no
intracardiac echogenic focus: no
hydronephrosis: no
hyperechogenic bowel: no
IT: 2.0
ARSA: negative
Free b-hCG: 58.1 IU/l equivalent to 1,489 MoM
PAPP-A: 1.000 IU/l equivalent to 0.51 MoM
PI left: 1.45
PI right: 2.69
lowest PI 1.45 equivalent to 1.045 Mom
Mean arterial pressure 96.0 mmHg equivalent to 1.125 MoM

I don't know what half of those mean
But I know the regurgitation and one of the hormones show a high risk.

Please give me some hope

Does the biopsy show chromosones like an amnio?

yes, it does show the chromosomes just like amnio.
it can just be done earlier (I'm only 13th week and here they don't do amnio before 16th week) plus it gives you an answe in a week or so.

Hi hun

My Nt measurement was 2.8mm and my risk was 1:89 off that alone (I'm 24) but after my bloods its now 1:270.

Your measurement is still in the normal range (I believe the cut off is 3mm?) AND the nasal bone is present which is a huge plus as 3 out of 4 babies with downs don't have a nasal bone at this stage

So is it just the heart problem thats pushed your odds up? If so a heart problem doesn't automatically mean downs.

Can I also say there is a lady on here (I'm really sorry can't remember her name, but if you look on the thread, "high risk for downs but refused amnio", you should find her) that was 1:5 and everything came back fine!

Good luck hunny

xxx

its some heart problem which is characteristic for downs.
and one of the two hormones they test from blood (PAPP-A) was also showing high risk.
the facial angle was also too high if i understood correctly
and they weren't too happy about the NT either

I can't advise on the tests, all my results came back low risk and I didn't have any amino or similar because of that. However, despite being low risk, my third son does have Downs. He will be six next month.

Had I found out in my pregnancy, I may well have decided to terminate, as I would have thought I couldn't cope and it wouldn't be fair to my other children. I am so glad I didn't know until he was born. Of course, it was a shock, and of course, I wonderd how I would cope, but the reality is, havign a child with Downs is not much different to having one without Downs, in that he is my son just like my other two sons, and I love him just the same as I do them. It's really not the dreaded big deal society makes it out to be.

I am now pregnant with Twins and have declined any testing for Downs, simply because it doesn't matter to me one bit if either of these babies have Downs.

My risk came back as a 1:47 chance of downs. I have decided to do further testing because i feel like I need to know what to prepare for.

I have an amnio test this friday.

Hi hun, so sorry you have this worry hanging over you, and I can totally understand your need to know.

I have zero experience with this issue, but all I can say is that we had a private scan with a consultant done at 12wks. He of course couldn't be certain the babies were healthy, but made a huge deal of the fact that both bubbas had a nasal bone. He is very experienced and before blood tests came back said, based on that fact alone, that he was very confident about this pregnancy. (That's if my dodgy cervix could hold up )

The nasal bone thing must be a really significant marker for downs. Also, I did read somewhere that the blood tests are often misleading. I.e. a woman can come back as high risk on a blood test and this does not correlate very well with her actual risk of downs. Similarly a low risk result doesn't correlate well with NOT having a down's baby. It's not an exact science - only the amnio is really conclusive.

I suspect the heart marker is the thing making them edge their bets. I'll have a scout around and see if I can find out more about it for you. Don't lose faith tho hun, I suspect that you may still be ok xxx

i had a 1 in 50 chance of my baby having downs syndrome due to her having 2 cysts on her brain (choroid plexus cysts) and an echogenic foci on her heart (they called it a golf ball) they told us these where 2 soft markers for babies with downs and we were offered the amnio but didnt have it done.Wouldnt have made an difference to us if she was downs or not.

That was at 20 weeks and Eden is 7 months now and perfect! She had a brain scan before we left the hospital and told the scan would be shown to the consultant later that day and we would get a phone call in a few days to let us know if the cysts where still there, the doctor phoned a few hours later to tell us they had gone! Her heart sounds fine so that must have gone aswell.

Dont worry too much, i think they always give us the worst case senario just to cover themselves, which doesnt help us, it just make us worry worry worry! But also like midori1999 says downs syndrome isnt always the worst case senario

hiya hon
A friend of mine also had a 1 in 5 downs risk, she had the amnio etc and it was all fine. she had a perfectly healthy baby in Nov.
Not sure why it was so high, I dont know if she knew either....

x