Abnormal first Trimester Screening

[Jessica4896]

I went in for my NT last Tuesday 12w4d.  The scan seemed to be fine, though the tech did not give us any information.  When that was finished they pricked my finger for the blood test and said they would be in touch if there was a problem.  Well I got the phone call today from the OB office that the blood work came back at a risk for DS but the nuchal fold was good (2.2)  When I asked what the blood work came back with all she said was 1 in 48 which is boarderline because the cutoff is 1 in 50.  I don't really understand I thought people usually got their results in 1 in thousands and that 1 in 250 was considered high risk how can the cutoff for normal be 1 in 50.  Anyway, she said that we would have to wait until 16 weeks to do the additional blood work and see if I had to be referred back to the perinatologist.  I asked her about CVS which I thought could be done now and she said all that is offered is Amnio only if there is still a risk after the second blood work is done.

I don't know what I should do.  It seems impossible to sit around and wait 3 more weeks for blood work and wait for those results to come in another few days etc.  

Has anyone had these kind of results?  

[martikadragoon]

The amnio isn't done until about 15 weeks on, if a doctor performs it too early it makes the risk of miscarriage go up.

your NT was GOOD

and your other numbers are alright as well, not great but ok. I seriously think you should consider a level 2 U/S before an amnio to see if there are any soft markers.

[Jessica4896]

Update:

I went to talk to my OB today and to get a copy of my lab results.  He said that the Perinatologist (the only one in the town where I live) won't meet with a patient unless they are at a risk of 1:30 or greater  before the results for the 2nd trimester screen have been factored in.  This is ridiculous, my doctor said that he would refer me to a larger peri practice in the nearby large city.  I got an appointment for Thursday morning.

The results were:
NT 2.2mm 1.29MoM
PAPP-A 0.31 MoM
hCG-1.48 MoM

1:48 for Down Syndrome
1:800 for Trisomy 18

My doctor said to be prepared for an amnio but I think that 13w6d is still too early.  What do you think the doctor will do/recommend at this point?

[martikadragoon]

Your NT results were alright. I don't think it is anything to really worry about. these tests are only indicators for your risks, they don't come up positive or negative. and the blood screens are extremely unreliable

[nickieb85]

I had high results @12.5 weeks with my youngest son. I ended up with abnormal results on my 16 week blood work and ended up being pressured into an Amnio (it was a very short decision) and everything ended up to be completely fine. I would say that the only thing you can do at this point is wait... which is the worst part of pregnancy anyways. I know there are a few more girls on here that have first hand experience with DS and can tell you what exactly the high risks for DS are. I hope that you feel better about it and hopefully it is nothing more than you can handle. (((HUGS)))