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Discussion

Phenylalanine testing...once or twice?

Question is...in actual practice are babies tested for PKU just once in the hospital 24 hours after birth, or is this test routinely done again at baby's first appointment outside of hospital (2-6 days after birth).

Only asking what you see in actual practice, not what is recommended. Thank you!

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    • Featured Replies

    My son and most of my patients were tested once after birth.

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    • Experts

    They have to have been fed some form of milk before they can be tested. Neonates who are too sick at birth to be fed will be tested later, but I've never heard of any peds offices testing them at their first visit.

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    Our peds office does the PKU at the first well baby visit.

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    • Experts

    Most kids in our place get one screen once they're over 24 hours old (assuming well-baby here). If parents refuse it in hospital or there is a need to redraw, the peds office can do it.

    Reality is overwhelmingly that they get it once.

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    • Author

    Thank you for the responses!

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    All the infants in the NICU where I work get two state screens that include PKU; the first at 24-48hrs old and the 2nd at 7-14 days old. My understanding is that the well kids get one in General Nursery & a second one at the Pedi office at 7-14 days old.

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    • Experts

    The only time I've seen multiple ones be drawn on well babies is a) problem with the initial sample, such as insufficient blood on the paper; or b) Mom has a known case of PKU/galactosemia etc. I've only seen the second scenario once in all my years. We did that kid's screen at birth, at 12 hrs, 24 hrs, at discharge, and s/he got a 4th at 7-10 days (honestly can't remember if it was a boy or girl, LOL).

    Not meaning to contradict Tiffy above...there may be variations between facilities or regions. Just saying what I've seen.

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    Not meaning to contradict Tiffy above...there may be variations between facilities or regions. Just saying what I've seen.

    Hey, no problem!! I think it is important to know that there can be a lot of variation from different States. I'll look at the forms tonight, which are written to be read by parents or providers of well babies directing them to do the repeat test at 7-14 days old.

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    In our NICU we do it at admission, again at 48-72 hours old, then again at 28 days old and if there is a problem we will repeat again. The first three PKU testings are done on every single baby that comes thru our NiCU regardless of the outcome of the first test. Hope that helps.

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    Off the state screen form: "Q: when is my baby tested? A: In Texas, babies have a newborn screening test when they are 1-2 days old. This test is done again at 7-14 days old. The test is done in accordance with Texas law."

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    • Experts
    Off the state screen form: "Q: when is my baby tested? A: In Texas, babies have a newborn screening test when they are 1-2 days old. This test is done again at 7-14 days old. The test is done in accordance with Texas law."

    You got me curious, so I looked up my state's requirements.

    ]A filter paper blood spot sample is required by state law (GS 130A-125) to be submitted to the North Carolina State Laboratory of Public Health for each infant born in North Carolina. The sample is tested for conditions that may cause mental retardation or death, if untreated. To prevent the effects of disease, the sample should be drawn during the infant´s first two to three days of life.

    North Carolina State Laboratory Public Health - Newborn Screening

    Very interesting to see the variation. It's also interesting to note that states vary on which conditions they test for. NC tests for 25 conditions but others test for more or fewer than that.

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    You got me curious, so I looked up my state's requirements.

    North Carolina State Laboratory Public Health - Newborn Screening

    Very interesting to see the variation. It's also interesting to note that states vary on which conditions they test for. NC tests for 25 conditions but others test for more or fewer than that.

    It is interesting. Texas is currently testing for 29 disorders. One of the newest added disorders was SCID and you'd be surprised that between us and the childen's hospital nearby, there are several legitimate cases a year. Also quite a few legitimate CF kids have been caught through the screening.

    With the micros, it gets frustrating that we get so many false postives for all kinds of metabolic disorders because they are on TPN, false positive because they are not really hypothyroid, just their thyroid is not yet awake, or false positive for CAH and it'll settle out in few weeks. Makes you wish we could exempt the

    Wow, are there enough abbreviations in this posting?

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