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Newborn Screening Tests Often False-Positive

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After an early arrival and some time in the NICU, I thought my newborn son was in the clear once I finally bought him home. But then my pediatrician shared the scary news that during his newborn screening in the hospital he had tested positive for cystic fibrosis, a life-threatening chronic lung and digestive disease. A positive result meant he could have CF, or just be a symptomless carrier, and we wouldn’t know for sure until he underwent a sweat test, the definitive diagnostic procedure for CF. For six already sleepless weeks we fretted until he weighed in at the required 8 lbs to have the test done, but thankfully it came back negative.
Plus: A Newborn’s First Tests

Turns out these kinds of false positives and the ensuing panic are extremely common, according to a story on MSNBC, and some people are questioning whether it’s worth testing newborns at all. Between 4,000 and 5,000 infants are diagnosed each year with congenital conditions like CF, phenylketonuria and sickle cell diseases through newborn screenings, but one expert guesses only one in 50 “positives” actually leads to diagnosis of a disease. While early treatment can make all the difference for the few infants who actually have these disorders, for the many more false positives, it creates extra anxiety for parents during a life phase already rife with stress.
Plus: When to Call Your Baby’s Doctor

Since the number and quality of tests vary from state to state, experts are pushing for more consistent screenings and a second tier of DNA testing to rule out false positives before parents are even notified.

Did you get a false positive when your newborn was screened? Given how often the results are unreliable, would you consider opting out of the tests altogether?

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