Follow-up status during the first 5 years of life for metabolic disorders on the federal Recommended Uniform Screening Panel

Abstract

Purpose: To investigate the 5-year follow-up status for newborns diagnosed with metabolic disorders designated as "primary disorders" on the federal Recommended Uniform Screening Panel (RUSP).

Methods: Follow-up status and demographic characteristics are described for 426 newborns diagnosed with one of 20 primary metabolic disorders on the RUSP between 2005 and 2009. Newborn screening program data were linked to birth certificate data. Follow-up status is described for each year through age 5 and by disorder type. Maternal characteristics of those who stayed in active care were compared with those who did not.

Results: Of 426 diagnosed newborns, by the end of 5 years of follow-up 55.2% stayed in active care, 20.4% became lost to follow-up, 8.7% moved out of state, 6.3% were determined to require no further follow-up, 4.7% refused follow-up, and 4.7% died. Among the initial group of disorders with more than 10 diagnosed cases, phenylketonuria (90%) had the highest percentage of patients still in active care after 5 years. Patients in active care had similar characteristics to patients not in active care when maternal age, race/ethnicity, completed education years, and expected source of payment for delivery were compared.

Conclusion: Staying in active care may associate with disorder type but not maternal characteristics.

Keywords: Recommended Uniform Screening Panel; long-term follow-up; metabolic disorders; newborn screening; outcomes.