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| image credit: onlymyhealth.com |
Blood is routinely drawn from a pinprick of an infant’s heel shortly after birth and analyzed for a host of preventable diseases, including more than 40 rare but potentially disabling and serious metabolic disorders. The blood tests are highly sensitive and present a drawback — in many cases they indicate a disorder when none is present.
For instance, reviews of a database of California newborns show that for 100 infants correctly identified as testing positive for methylmalonic acidemia (MMA), an inborn metabolic disorder that causes failure to thrive and can lead to fatal neonatal disease, more than 500 babies were falsely identified as having the disorder.
These false-positive results can cause great anxiety for parents and prompt a battery of tests before they are revealed, said Curt Scharfe, associate professor of genetics and senior author of the new research, which was published Sept. 12 in the journal Genetics in Medicine.
“The time until confirmation is stressful for families, places a burden on the health care system, and in some cases could delay the right treatment for these infants.” Scharfe said.
For instance, reviews of a database of California newborns show that for 100 infants correctly identified as testing positive for methylmalonic acidemia (MMA), an inborn metabolic disorder that causes failure to thrive and can lead to fatal neonatal disease, more than 500 babies were falsely identified as having the disorder.
These false-positive results can cause great anxiety for parents and prompt a battery of tests before they are revealed, said Curt Scharfe, associate professor of genetics and senior author of the new research, which was published Sept. 12 in the journal Genetics in Medicine.
“The time until confirmation is stressful for families, places a burden on the health care system, and in some cases could delay the right treatment for these infants.” Scharfe said.

