Score one for screening tests

A little girl was born to a patient of mine last week. As happens to all babies born in hospitals these days, she was subjected to a heel-prick Guthrie Test before discharge.

A couple of days later, the parents got a call from the hospital which does the tests, imploring them to get her thyroid hormone levels checked ASAP. They went to the nearest peds ER, where further testing confirmed the baby has congenital hypothyroidism. Today she’s scheduled to have a radionuclide scan to check if she even has a thyroid.

cretinism

Most people in our generation know the term “cretin” mainly as a pejorative hurled at someone who isn’t very bright. What many are unaware of, however, is that a cretin is the medical term for a person so affected by untreated congenital hypothyroidism. There’s a reason very few of us have seen a real cretin; the neonatal scanning that picked up this little girl is it. Hopefully, with thyroid hormone replacement therapy, she’ll grow up to be every bit as sweet and intelligent as her mother.

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3 Responses

  1. My province has, over the last 3 years, increased the newborn screen from testing for 2 conditions to testing for 29 (just today they officially announced they are adding CF).

    I will never understand the people who turn down the heel stick. It’s a simple test that can help so much if your baby is one of the rare ones who has one of the tested for conditions.

  2. Wow. Nice picture. Looks like my Nurse Manager without the white coat and the clipboard!

  3. I would love if they extended the test here beyond the PKU and thyroid, but I don’t see it happening.

    Pinky – I sympathise. I can think of several people that picture reminded me of ;-).

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