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Newborn screenings helping to save lives

FAIRMONT — Whether it’s a boy or a girl, the birth of a baby brings expressions of joy coupled with a prayer for the baby’s health. What many people don’t realize is that newborns are screened for a variety of health issues that, if diagnosed early, can mitigate the problem and save lives.

States differ in what conditions are included in testing, but Minnesota has one of the most comprehensive newborn screening programs in the country, according to the Minnesota Department of Health. Recently, a new test for spinal muscular atrophy was added, bringing the number of conditions screened to 61.

Dr. Jonathan Buchholz, OB/GYN at Mayo Clinic Health System in Fairmont, said all newborns are tested unless parents opt out of the screening, which is completed via a single blood sample.

“We want to screen for things where treatment would make a difference in the outcome, and screening does make a significant difference as far as treatment and outcomes,” he said.

A blood sample is taken from the newborn usually within 24 hours of birth, and test results are reported quickly.

“It’s usually just a few days (for results),” Buchholz said. “I think it takes longer to get to the lab than it does to run.”

If there is an abnormal result, a confirmatory test is run to double check, but treatment, which often involves just a diet change, is begun immediately. Waiting until the issue manifests itself with noticeable symptoms could result in permanent developmental issues and even death.

“A lot of these conditions are metabolism issues, where the baby has issues breaking down certain amino acids,” he said. “You don’t even notice [problems] until the child has trouble meeting milestones, but if they put him on a special diet, they usually don’t have any side effects or long-term issues.”

The addition of the spinal muscular atrophy test to the screening regimen affects one in every 6,000 live births each year in the country. If untreated, children with SMA develop progressive muscle weakness, loss of motor milestones like sitting or crawling, loss of ability to swallow and breathe, and death, according to the state health department. As is the situation when other tests were added to the screening, the SMA test was added when the U.S. Food and Drug Administration approved a drug that can modify the course of the disease, particularly with early diagnosis and treatment.

Minnesota has been a pioneer in newborn screening since 1964, when the state started screening for phenylketonuria of PKU, which is difficulty breaking down ketones and can cause mental retardation.

“It (PKU) is usually hereditary, but if the baby is put on a PKU diet, then they tend not to have any issues,” Buchholz said. “The biggest thing is that any food that has certain ketones in it usually will be labeled. Most people don’t look for it, but diet soda has it.”

He was unsure of the cost of testing, which varies from state to state, but he has never seen an insurance company, Medicare or Medicaid not cover the cost of newborn screening.

“It’s amazing to me that we were diagnosing conditions like PKU before we even had a good understanding of genetics. We started testing in the ’60s, but we’re far more refined now with the tests that are run. It’s always amazed me how brilliant these guys had to be to create a new method,” Buchholz said.

In the seven months since he has been on staff at Fairmont Mayo, Buchholz estimates he has delivered about 30 babies, but that number will increase in the next few weeks as he delivers the infants for all the new patients he started began when he first arrived.

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