Well, we had the appointment which was a stress reliever (just knowing that results are now pending) and more stressful all at the same time as we still have to wait. The whole ordeal took 3 hours…. 1st we had a genetic counseling session which explained the entire testing process to us and which factors caused her results to have such high odds….family history and such. The next step was to have an ultrasound so they could measure many different things like the brain vs skull size, and check on heart defects. The doctors are looking for what they call “soft markers” related to the heart, brain, and bone structure. 70% of all babies born with Down syndrome show “soft markers” during an ultrasound and 30% of them show no markers at all, yet still have DS. The doctors use the presents (or lack thereof) of these markers to readjust the odds they gave you with your 1st trimester screening, which if you remember my wife’s were an astonishing 1 in 5. I’m very please to say that the doctor didn’t not see a single “soft marker” which doesn’t mean were out of the woods but it moves her odds from 1 in 5 to 1 in 50…still high considering anything more than 1 in 307 is high; but WAY better than we thought.
He sat us down and said that he doesn’t think our child has DS but still wanted us to have the test done so we can know for sure. One of the markers they use to determine your 1st trimester odds is the level of PAPP-A (Pregnancy-associated plasma protein A). There is a sack located in the brain or behind the head (I wasn’t real sure which he said but I think it’s in the brain) that stores this PAPPA fluid (this is not the amniotic sack and fluid your baby is being protected in) and hers was way low, causing the high risk. A perfect score of the PAPPA fluid is 1.0 and the closer you are the better. Melissa’s is.21 which is most likely throwing off her test results. It doesn’t mean the baby doesn’t have DS but when you see the low level of PAPPAwith a clean ultrasound it means either the baby doesn’t have it or it falls into the 30% of DS babies which show no markers. But with his experience he fells confidant we will get a clean DS result.
Hearing all of that was a huge weight lifted off my shoulders but that’s when the doctor said we were most likely trading one problem for another. Low PAPA-A levels don’t point to a specific disorder but it causes MAJOR issues in the 3rd trimester. Low levels indicate placenta abnormalities, causing the baby to be malnourished and born early at a small weight/size and has a high rate of placenta ruptures. The doctor did an amniocentesis so we can be 99.9% positive on the results of DS and many other disorders. It takes 10-14 days to get the full results for the amnio but we should know by Thursday morning if the baby has Down Syndrome or not, but full results will show all kinds of stuff. While he was performing the Amnio on my wife his colleague pulled me aside to let me know in private that levels as low as hers has a very high rate of miscarriages to make sure I take care of her and not let her do too much. They will keep a close eye on her but there is nothing anyone can do about the low PAPA-A levels, they either correct themselves or the baby has a slim chance of survival.
Here is what we do know, it’s a boy!!!!! Other than that its still all up in the air and the docs think the baby does not have DS but will have a very difficult pregnancy. Thanks for all the love, it really helps know I have so many people I can lean on when I need it. No we just wait for the results and pray that everything works out.