I remember the urgency in Andy James’s voice when I got the call for an emergency genetics consultation. I can’t put my finger on it, Bob, but something’s bothering me about this baby, he said. Something’s not right, and I’m not sure what it is. Can you get over here right away?
Coming from Andy, the head of our newborn intensive care unit and one of the best neonatologists I’d ever met, those words meant a lot. But when I saw the baby, just four hours old, lying before me in his Plexiglas isolette, I had trouble seeing what had bothered Andy so. Sure, Edwin Rivera was small: at 4 pounds, 11 ounces, he was a good 2 pounds below the expected weight for a full-term newborn. But there are dozens of causes for low birth weight, only a few of which are ultimately attributable to genetic abnormalities.
I could ...
