Secondary Findings of Newborn Screening

Abstract

The aim of newborn screening (NBS) program is to detect and manage treatable conditions in the early stages prior to the occurrence of long-term and irreversible sequalae. Phenylketonuria was the first screened disorder, but panels rapidly expanded after the introduction of tandem mass spectrometry technology into the program. Significant differences in the diseases screened by NBS were noted between programs in United States. Therefore, the recommended uniform screening panel was developed in 2006 to include a list of core disorders of NBS panels based on specific scoring system. Screening for these disorders may lead to incidental detection of secondary conditions. Identification of these conditions could be challenging due to unavailability of confirmatory testing, effective therapies and/or unclear natural history. In this review, we discuss several secondary findings of NBS and their associated disorders as well as the potential risk and benefits of their early diagnosis.