Health Watch: How Vermont screens newborns for disorders

BURLINGTON, Vt. (WCAX) – Each state in the U.S. has a committee that decides how many conditions a newborn is tested for in the first day or two of life. Alexandra Montgomery reports that while it might appear Vermont doesn’t test for as many conditions as other states, it’s actually on par with the rest of the country.

Adam Poulin works on the team that oversees the Newborn Screening Program in Vermont. It may be a part of his job, but it’s also been a part of his personal life. After his son was born, a blood sample raised a red flag

“There was a hypothyroidism that was detected,” Poulin explained. “A specialist who did further testing to confirm that our son needed a little bit of extra hormone to help with his early development.”

Poulin’s son is now off medicine and thriving, possibly a budding artist.

Hypothyroidism is just one the core conditions tested for in Vermont newborns. Those core conditions are part of the federal Recommended Uniform Screening Panel, or RUSP. Vermont chooses 33 blood screenings and a hearing and heart test for a total of 35 tests. Each state can pick and choose the RUSP conditions to test for.

“We feel very strongly that our newborn screening panel gets Vermont families information that can help make very important decisions about their child’s health,” Poulin said.

The goal is to help families plan for their baby’s health right from birth. Babies can be born appearing totally healthy but have an underlying condition, many of which are treatable as long as they are caught right away.

But other states report dozens of other conditions than Vermont. Maine, for example, lists screenings containing upwards of 57 conditions. Dr. Roger Eaton is director of the U-Mass New England Newborn Screening Program, which tests for babies born in Vermont, Maine, and three other states. He says Vermont babies are getting the same screenings as Maine babies.

“The only difference really is in the listed targets or the Vermont regulations versus how Maine is listing their targets. So, the testing is identical,” Eaton said.

Twenty-four to 48 hours after birth, a Vermont newborn’s heel is pricked. The blood sample is sent to Dr. Eaton’s lab in Massachusetts. While there is a list of targeted tests that bring up red flags on “core conditions,” dozens of secondary conditions are also picked up simply because of the way the tests are conducted. Screenings can reveal abnormal results for dozens of conditions, but that doesn’t mean the baby actually has the condition. A positive screening is not a diagnosis. A positive diagnosis is made through additional screening.

Dr. Eaton says babies born in the NICU are more likely to get an abnormal reading. “They may be getting blood transfusions, they may be getting meds through IVs instead of in the usual fashion, and they may be being fed, for example, amino acids that are part of the targets for our screening,” Eaton said.

In Vermont, the health department says follow-ups on a positive screening are done every day, but only about 100 actual diagnoses have been made in the past 10 years. More time-sensitive cases could involve Poulin and the health department, but usually the news will come from someone parents’ already know. “By and large, we support the primary care community to have those conversations with their patients,” Poulin said.

If Vermont babies are actually getting the results for more than 33 blood conditions, why not just say that? Poulin says it comes down to clarity. He says they want to be clear about how many core conditions are being screened, even if several other secondary results come back.

Parents can opt out of the newborn screening process, but Poulin says it’s rare.

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