DEJA VU

I had a voice mail from one of the physicians in my OB practice yesterday afternoon requesting that I call him 'to discuss some stuff'. I knew what this meant, even before I returned the call. I knew what it meant the minute I saw the number on the call history on my cell phone. It meant that there had been some kind of 'hit' on the first trimester screen that we had done last Monday.

We are essentially right back to where we started with Gracie...the screening showed the odds of Jellybean having Down Syndrome to be 1 in 39. Again, it is just a screening, but this screening is becoming to be more and more accurate...to the point of being about 85-90% accurate in detecting DS. My OB had me talk with the Maternal Fetal Medicine group from Harrisburg that sees patients in our OB office twice a month; ultimately, I ended up talking with a genetic counselor for quite some time yesterday evening and this morning.

Our concern at this point is not really whether or not Jellybean has Down Syndrome - we will happily accept a child with Down Syndrome.  But we would really like to identify any underlying issues that may be lurking (assuming that Jellybean does have DS...and assuming that the 99% certainty that Gracie had DS is correct). Once you have a DS baby, the odds of having another rise to 1%. Many second cases are simply flukes, but many are actually genetically predisposed. (I know that this may seem kind of obvious, but for further explanation of what I'm trying to say please check out Translocation Down Syndrome.) The genetic counselor's main concern at this point is helping us determine if one of us is carrying a chromosomal translocation that potentially predisposes our children to Down Syndrome. If I am a carrier for that anomaly, the chance of our future children having DS increases to 15-20%; if Jeff is a carrier, the chance of our future children having DS increases to about 5%.  

The first step of the 'plan', as presented by the genetic counselor, is to determine whether or not Jellybean has DS. In order to do this, she initially wanted us to have chorionic villus sampling done to determine the presence of DS. For several reasons, this would have to be done tomorrow or Monday, and we would have to travel to Harrisburg to have it done at their main office. We can get the same information from an amniocentesis in a few weeks.  The risk for lost pregnancy is less with amniocentesis, and we could have an amnio done in Lewisburg instead of Harrisburg. So...CVS was immediately ruled out. We are still on the fence about the amnio.  I really don't want to do it, but I am honestly not sure that I can wait until September or October to have answers to all of this.  The plan at this point is to schedule the amnio now, simply because it won't happen for another 2-3 weeks anyway.  That gives us time to talk to more people and gather more information.  If we get information that seems positive and encouraging, we can always cancel the amnio.

I posted some questions on a couple Down Syndrome forums today, and one of the mothers suggested that Jeff and I have chromosomal analysis done without doing the amnio.  If one of us tests positive as a carrier for a translocated chromosome, we can pretty much just assume that Jellybean does have DS.  I like this option MUCH better, but I am already in the middle of a power struggle with my insurance and I suspect that the genetic testing may not be covered without the supporting affirmative diagnosis of Down Syndrome via CVS or amnio.  But it is certainly worth investigating, especially if there is a chance that I can prevent a big, fat needle from being stuck into my belly.

So that is where we are...for now.  Not really where we want to be, but there are certainly worse positions to be in.  Updates to follow as we have them...