Thursday, December 23, 2010

First "high-risk" visit

Nothing risky about the visit itself.  It's just the first visit to the perinatologist (specialist OB dealing with high-risk pregnancies).

So, we've prepared ourselves for a full-on discussion of possible "double-bubble" conditions.  I've got it narrowed down to something called duodenal atresia, where the intestines are not connected (I will ultimately be wrong, not for the first time).  Then the ultrasound tech, who is using a much better machine, starts her exam.

Looks like hydrocephalus..ventricles are measuring 15 mm....yep, definitely hydrocephalus.  They can put in a shunt.  (I'm not kidding, this was the first description of hydro to us.  As if you just put in the shunt, and all your problems go away.)  And echogenic foci on the heart.  And VSD (ventricular septal defect).  And a dilated kidney.  Oh, yes, and your baby certainly has an intestinal issue.

I'm quickly scribbling on a gum wrapper, because I wasn't planning on having to write anything.  The doctor comes in, agrees that Aria has all these issues, and recommends an amnio.

Rachael (Aria's mom) has a huge fear of needles.  It follows the mathematical function N to the power of x, where N is fear and x is the length of the needle.  So we ask why we need an amnio.  The doctor wants to rule out trisomy 18 and 13 (extra copies of these chromosomes), which are explained to be "incompatible with life".

We confer, and decide that we can handle Down's, but if our baby's going to die, we want to know so that we can prepare.  So Rachael tries to calm down the best she can, to allow the giant needle to go into her stomach, and the doctor says "Don't worry.  I've seen this done before."

Probably the only funny moment in the whole saga.

The initial screen showed our risk for Down's as 1 in 3800.  After factoring in the presence of all the abnormalities, the computer says it's now 1 in 6.  The doctor says, "If I had to put money on a diagnosis, it'd be on Down's".

I don't know why, if you had to put money down, you'd go with the 1 in 6 shot.  Shouldn't you go with the 5 in 6?  Isn't it far more likely that Down's is not the problem (namely, 5 in 6)?

This time, I'm right.  The amnio comes back negative for chromosomal abnormalities.  This is actually a quick test, and doesn't check for minor chromosomal defects, like microdeletions.  Genetic counseling is recommended, in Indianapolis (only about an hour away).

We don't know what to do or say.  Not at all what we expected.  We ride home, mostly in silence.

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