CLINICAL PEARLS AND PITFALLS The National Newborn Screening and Global Resource Center, NNSGRC, maintains a website with details on specific tests performed in each state Available at http://genes-r-us.uthscsa.edu/sites/genes-rus/files/nbsdisorders.pdf The American College of Medical Genetics and Genomics (ACMG) provides newborn screening ACT sheets with confirmatory algorithms These are designed as educational resources for use in neonates presenting with abnormal screening results and concern for endocrinopathies, hemoglobinopathies, genetic conditions, and metabolic disorders Available at https://www.acmg.net/ACMG/MedicalGenetics-Practice-Resources/ACT_Sheets_and_Algorithms.aspx Suspect hemoglobinopathies in neonates presenting with swollen hands and/or feet and confirm by sending blood test during the ED visit Newborn blood spot screening tests can be divided into four broad categories: metabolic, endocrine, hemoglobinopathies, and others Metabolic disorders are typically subdivided into organic acid disorders, fatty acid oxidation disorders, and amino acid disorders Endocrine screening tests include congenital hypothyroidism and congenital adrenal hyperplasia Hemoglobinopathy screening tests include sickle cell anemia, sickle beta thalassemia, and S/C disease The “other” category includes classic galactosemia, cystic fibrosis, severe combined immunodeficiencies, and biotinidase deficiencies Newborns with abnormal screening results can present asymptomatically, with parents and provider requesting confirmation of abnormal results, or with nonspecific signs like poor feeding, or lethargy, or may present in extremis, with seizures, encephalopathy, or in shock Parents may not volunteer results of screening examination at triage, so abnormal screening results should always be on the differential diagnosis of sick neonates Inborn error of metabolism should be considered in neonates presenting with altered mental status, vomiting, diarrhea, metabolic acidosis, hypoglycemia, and sepsis Treatment in the ED should be directed at early recognition, stabilization of the infant, and admission for further care Such neonates should receive rapid glucose infusion of 0.5 g/kg with 10% dextrose solutions at mL/kg Higher concentrations of dextrose solutions are generally not administered to neonates in the first month of life because of high solute load and potential for fluid shifts