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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 />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 />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 5 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.