I've just finished my final call for this on-call series. I'm theoretically on call for the entire long weekend, with today being Martin Luther King Day, but my supervising attending has taken me off remaining calls for the long weekend because we've been hit so hard that I'll be useless this week if I don't get a bit of rest.
My last delivery for this on-call block resulted in a baby boy with Down Syndrome. (Note: it's Down Syndrome, not Down's or Downs Syndrome. Even parents of children with the condition often get this wrong.) Some lab work needs to come back to confirm the diagnosis officially, but it's a done deal where this baby is concerned. The baby's father is an RN (we've worked together), and he recognized it before anyone said anything. No one did actually say anything about it.
Down Syndrome occurs with abnormal chromosomal division. A human cell typically has twenty-three pairs of chromosomes, with one set coming from each parent. When a baby has Down Syndrome, a third chromosome # 21 is present. Most often this third chromosome comes from the mother. This form of Down Syndrome is known as Trisomy 21, and is responsible for roughly 95% of all cases of Down Syndrome. There are variations of Down syndrome. One rare type, known as translocation, happens when a part of the extra chromosome breaks off and attaches itself to another chromosome (usually 13, 15, or 22, if it matters to anyone.) The outcome of the translocation form of down syndrome in terms of the child's prognosis is typically the same as the basic Trisomy 21 form. Its difference is really significant only in that one parent is usually an asymptomatic carrier of the trait. This might significantly influence a couple's decision as to whether or not to have more biological children. A third form of Down Syndrome, known as mosaicism, occurs when, for some reason, not all cells in the child's body contain duplicates of chromosome #21. When such is the case, the degree to which the child is impacted by the resulting disability varies widely.
Down Syndrome is usually diagnosed at birth because of physical manifestations, though the diagnosis must be confirmed through lab work, as some children or even adults possess physical traits consistent with the syndrome without actually having it.
The baby whose delivery I participated in today had a smallish head. I believe that was what first set of the father's radar. He then reached for one of the baby's hands, and traced the crease across the palm. Without even really thinking about it, I reached for the little guy' foot and felt between his first and second toes, where there was a noticeable crease. The father made eye contact with me. I'm not certain exactly what was meant by the look we exchanged, but I assume he was confirming what we both knew, and maybe he was silently imploring for me not to say anything aloud. The mother may not yet have been ready to hear it. Regardless, it's not the place of a third-year medical student to announce the diagnosis, whatever the diagnosis may be.
The Apgar measures were low for muscle tone, and the baby's cry was weak. He was stable, though. We cleaned and wrapped him and handed him to his mommy. the father whispered a question to the OBGYN and pediatrician about lab testing. the pediatrician said they would get a blood sample right away.
The baby and his parents were moved to a more comfortable room. As we left them, the father squeezed my hand and told me thanks in a whispered voice. I just nodded. I'm not sure why he was thanking me, unless it was for not blurting anything out. I just nodded.
The prototypical Down Syndrome baby has a mother thirty-five years of age or older at birth. This little guy's mom is twenty-six. At this point, no actions on the part of either parent are known to contribute to the likelihood of producing a baby with Down Syndrome. A mom can drink like a fish throughout her whole pregnancy and use every banned substance known to man. That will cause a host of other conditions for the baby, but it does nothing to increase the baby's chances of Down syndrome.
The way the age factor works, as best we understand it, is that the older a mother is, the more negative exposure her eggs have had. While we don't know what specifically would cause Chromosome #21 to split, we do know that older eggs are more likely to be damaged. The odds are still slight in favor of Down syndrome, but the chances of the condition occurring increase with maternal age.
Amniocentesis is recommended for mothers 35 and up because 35 is the initial age at which the chance of Down Syndrome is greater than the chance of miscarriage due to amniocentesis (or chorionic villi sampling -- a similar prenatal test in which cord blood is s; there's still an abdominal injection required, but the risks of miscarriage due to the procedure are slightly lower). Not everyone who opts for either amniocentesis or chorionic villi sampling automatically plans to terminate the pregnancy if the results of the testing indicate that the child has Down Syndrome. Some parents just want to be prepared in advanced for whatever it is that they are facing. Regardless of their choice or of the reason they made the choice, i'm not there to judge them. I just feel for them. as one pediatrician told me early in my thrid year, with everything than can possibly go wring between a child's conception and birth, it's a mircale that any baby escapes the process unscathed.
I desperately need the day off tomorrow. I'm so exhausted that I'm typing gibberish and having to go back to make sense of it. I typed something last night about Fiji to a friend. I haven't a clue as to what I was typing about. Why Fiji, of all places?
Tomorrow I shall mostly sleep, eat, and play my instruments. I will probably make a quick trip to the hospital to check on the new little family whose baby I just helped deliver. By now the mom should have been told. I hope they're OK.