Beyond What to Expect – Part II

Picking up from yesterday…

Once the physical symptoms finally started to abate, it was time for the first trimester screening.  Before I go into that…a little context.  Since this involves both LG and me, and he’s incredibly protective of his privacy, I’m going to tell parts of the story in broad strokes.

About 6 months before we got engaged, somehow LG and I stumbled into a discussion of what each of us would do in the event we found out during pregnancy that the child we were carrying had some sort of highly debilitating condition.  It quickly became apparent that our respective views on this topic are as divergent as they could possibly be.  I think that gave us both pause – could we be with someone who held such a different viewpoint on a fundamental issue – but ultimately each decided on our own that it was such a remote possibility  that we would ever deal with the issue {cue ominous foreshadowing music} that it wasn’t something that would get in the way of all the wonderful things we did have going for us in our relationship.

I was actually looking forward to the 1st trimester screening as I was certain it would say everything was fine and it would be smooth sailing from there.   We met with the genetic counselor directly after the nuchal ultrasound.  First, the good news – the scan looked great with a measurement of 1.6.   Then she got to the bloodwork.  The free beta-HCG was slightly above normal (1.3); however, the PAPP-A was markedly low (.2 Multiples of Median or M0M).  The counselor explained that the blood results  were potentially indicative of Trisomy 21 (Down’s Syndrome).  The combined risk factor with the ultrasound was 1:71 for Down’s.  Bloodwork alone was 1:20.  To make matters even more fraught, she then told us that if the low PAPP-A wasn’t a result of the baby having Down’s, then it might be indicative of a placental issue that would put me at higher risk for preeclampsia, growth problems for the baby, and pre-term labor.  There was no question of whether we would have a diagnostic test, just which one.  Due to the bleed, we were advised against the CVS, so we had wait 2.5 weeks for an amnio.

Those 2.5 weeks were filled with tears, fights, emotionally draining discussions of what we do in the event the baby had Down’s, tension-filled silences, attempts to pretend everything was OK and back through the cycle again.  Finally it was amnio day.  I was quite anxious, but the procedure ended up being pretty painless and quick.  In fact, as the doctor was pulling out the needle, it actually looked as if the baby waved good-bye to this visitor into his or her* little world..  It was probably just an effect of the suction, but pretty cute nonetheless.

In a miracle of modern medicine, we got the preliminary FISH** results that same day.  I’m certainly not an expert on FISH tests, but my understanding is that they shine some sort of light on the sample (?) and they can see if two chromosomes light up for genes #13, #18, and #21 or three.  If it’s 2, it means that gene is normal, if it’s 3, then the baby has the condition associates with that particular chromosome.  (Anyone more knowledgeable, please feel free to correct me.)  The results from this test are 95 to 99% definitive depending on whom you talk to.  It takes 10 to 14 days for final results and that includes testing for neural tube defects.  Our FISH results…..  all indications of a chromosomally normal baby!  I was thrilled without reservation.  LG was thrilled with reservation until we got the full results.  We both started to take tentative steps towards allowing ourselves to be excited and putting the tension and distance caused by this unfathomable decision about whether to continue the pregnancy if in fact the baby had Down’s behind us.

Just like the IVF process before this, we waited anxiously for the call.  More on that to come.

** While we could learn the sex from the amnio, we’ve elected to wait until the big reveal in March 2010.

*fluorescence in-situ hybridization

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3 Responses

  1. First, welcome back. Please know that no matter how much some of us have come to care about you and LG, and all that’s going on with your lives and pregnancy, you owe us absolutely nothing. If you decide to stop blogging, for whatever reason, you don’t need to explain or justify yourself. Personally, I do appreciate the update, but when you’re dealing with all of the issues that pregnancy brings, blogging shouldn’t feel like yet another obligation or stressor.

    Second, congratulations on recovering from OHSS. That actually sounds like a severe case to me. I’m so glad the draining had the desired effect. The first trimester is challenging enough without throwing that in. And I am so glad to hear that the SCH cleared up. I can only imagine the fear and worry that brought to your lives. Your first trimester hasn’t seemed to include the joy and wonder that you deserve. I hope the rest of your pregnancy goes smoothly and you get to enjoy the life that’s developing inside you.

    As for the phone call, it sounds like you already got it, and I hope more than anthing it was good news. Be good to yourself!

    I wish you all the best.

  2. You are really leaving me in a state with these cliffhangers!

    Hugs again to you. The more you tell, the more I understand of how stressful a time this must have been for you.

  3. That is a very scary situation you and LG were in! I know that feeling of “will my baby be healthy and what do I do if it isn’t”. It is not a carefree time. I’m wishing you lots of peace and I can’t wait to read more.
    *HUGS*

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