Blood test came back high risk for downs!

Hi So a few days before Xmas I got the call. Basically my NT measurements were fine 1.9 and 2.1. My Papp a was low at 0.65 But it's my hcg that's the problem. The mom is 1.0 and normally double with twins so 2.0 but mine is 5.73 Which there saying is high risk and a sign for downs!! Just confused. I did pgd so checked for chromosome 21,13 + 18. I'm terrified now!! What do I do? The risk of amnio is double because of twins but I'm worried about false negatives on embryos!! Help xxxxxx

My blood test for my 2nd son was AWFUL but he is tatally OK. He is 4 now :)

 if you want to be absolutely sure, you have to do the amnio. there are so-called mosaicisms - this means there are monosomies or trisomies only in certain cells - this can be only detected in a cell- culture after amniocentisis. I had amnios in both my pregnancies and never happened anything to the children. but in the secind pregnancy there was a severe chromosomal defect detected ...

if you look for a doctor who is experienced in amnio there wont happen anything ... but it is you decision. 

good luck!

 

Are you talking about the genetic screen blood tests?  Those have a 20% false positive rate which is horrible. How old are you?  If you are over 35 the error rate is higher. Mine came back very high w/ds2 for spina bifida and I didnt trust it so I asked for a retake and it came back normal. I refused the amnio for a level 2 ultrasound which was normal also. Ds2 was born just fine.  Good luck  

PFP- I'm 36. Yes the genetic screen they do with the nuchal scan at 12 weeks. What is the chance of a embryo been superior quality, hatching a day early having mosaicism and getting this far?

 I have no idea about these rates.if you need 100% sureness, do the amnio! I do not know anybody who had a mc after amnio. 

five gorgeous babies:

PFP- I'm 36. Yes the genetic screen they do with the nuchal scan at 12 weeks. What is the chance of a embryo been superior quality, hatching a day early having mosaicism and getting this far?

I was 35 when I took my genetic screen test and it was high for spina bifida.  Its probably a false postitive.  Get the amnio if it will put your mind at rest.

Hi 5gb. If I was you I wouldn't do an amnio to make sure. The pgd has already tested for downs so they'll be fine. Sometimes you just get bad blood results. I was 23 when I was pregnant with my 1st son and my bloods came back high risk. I had the amnio and he was a perfectly healthy baby. Try not to worry hun. Molly. X x

Thanks mm- that's what I think too BUT there is a slight chance off mosaicism and a false negative although it would be likely to get this far!!

Hi 5gb, Speak to Dr Savvas then maybe do the Amnio! We have co e so far with medical research the odds of miscarriage are probably much lower! Good Luck to you honey xxx

Yea, definitely speak to savvas. He might be able to help put your mind at rest. Suppose the amnio would guarantee that the babies were healthy so you wouldn't have to worry for the rest of the pregnancy. You might just have to do it. When i had mine, i was really worried but it wasn't bad at all and the baby was fine. Good luck hun. Molly. X x

5gb how are you doing today? Thinking of you......

Hope all goes ok 5GB thinking of you xxx

I hope all is ok. I had the genetic test as well and it came back positive for spina bifida so I went to see a genetic specialist and it turned out to be a false positive...I'm sure your is a false positive since you are carrying twins

Those tests have notoriously high false positives. I refused the test with all three of my pregnancies for that reason. Your babies have already been tested for Down Syndrome by PGD and they were normal. The PGD is much more accurate than this test. It sounds like you are worried about the risk of amnio, and it would be so horrible to have something go wrong after all you've been through to have these babies. I would just try not to worry about it. I know it's hard though. With my second son, his 20 week u/s had three "soft markers" for Down Syndrome, and we went through a couple of weeks of freaking out about it. Then we met with a genetic counselor who explained how inaccurate these tests are, and we relaxed a bit. My son is perfectly fine.