A Prick of Prevention

One tiny, yet crucial part of a thorough newborn screening includes a quick prick of a baby’s heel to collect a few drops of blood.

Newborn screening was initiated to prevent severe disabilities and can save lives through early diagnosis and treatment. The Newborn screening program in Montana is a state-based public health program that tests infants shortly after birth for conditions that can cause disability or death if left undetected and untreated. Most newborn screenings are done using a few drops of blood obtained from a heel stick in the first 24 to 48 hours of life.

A positive newborn screening result requires swift follow up. This includes arranging for diagnostic tests to confirm the newborn screening results and providing access to the essential medical services needed to minimize the effects of the underlying disorder. In Montana, these critical steps are provided by the Newborn Screening Follow-up Program of the Medical Genetics Department at Shodair Children’s Hospital. Shodair also ensures ongoing specialty medical management to the patients and their families.

The State of Montana contracts with Shodair Children’s Hospital for diagnostic follow-up services as well as clinical support for diagnosed cases of heritable metabolic disorders. This is one of the many ways Shodair works to address health needs of the entire state, because early detection and intervention can make a huge difference in how severely a child is affected by some of these conditions.

Five drops of blood provide enough information to indicate whether further testing is necessary. The disorders have big names, and big consequences to go along with them. Take galactosemia, or GALT deficiency, for example. Babies born with this disorder cannot properly metabolize galactose, a sugar present in breast milk and regular infant formula, and rapidly develop severe and life-threatening problems if a lactose-free diet is not implemented soon after birth. Fatty acid oxidation disorders such as medium-chain acyl-CoA dehydrogenase, or MCAD, deficiency, may not be apparent in the first few months of life but can have sudden severe symptoms including sudden infant death syndrome (SIDS) if caretakers are not aware of how to manage the condition to avoid health crises.

These five drops of blood can trigger a phone call from the Montana Department of Health and Human Services to Shodair’s Newborn Screening (NBS) Follow-up team. In partnership with Colorado Children’s Hospital, the NBS Follow-up team provides interim guidance while a diagnosis is confirmed or excluded.

Care for these babies is initiated as soon as possible, sometimes even before a diagnosis is completely confirmed. If further follow-up is indicated, the babies will be integrated into the Shodair Metabolic clinic which provides long-term follow-up care and support for babies and their families. While the Metabolic clinic is located in Helena, the clinic offers telemedicine and outreach clinics in various Montana towns as a way to serve the entire state and decrease the barrier of geographical distance for families.

Shodair’s NBS Follow-up team and Metabolic clinic are well established and maintain an incredible reputation throughout Montana, the region, and the nation. Once a patient is established, they often maintain lifelong relationships with Shodair’s providers.

Angela Dusko, supervisor for the DPHHS Newborn Metabolic Screening and Serology Section, said the partnership with Shodair is important because it provides a network of health professionals dedicated to timely diagnostic testing and early intervention and follow up care for Montana infants. The partnership helps families navigate the special needs of an infant who is diagnosed with an inheritable and rare condition, sometimes throughout the life of the child. DPHHS values the partnership with Shodair, and the impact this service provides to Montana families is immeasurable. To find out more about Newborn Screening Follow-up, visit Shodair.org