Prompted by significant advances in the field of newborn screening, the American Academy of Pediatrics released revised Newborn Screening Fact Sheets in late 2006.1 Technological innovations and an increased appreciation of issues surrounding informed consent for newborn screening were 2 factors underlying the latest revision.1

Congenital disorders discussed in the fact sheets include biotinidase deficiency, congenital adrenal hyperplasia, congenital hearing loss, congenital hypothyroidism, cystic fibrosis, galactosemia, homocystinuria, maple syrup urine disease, medium-chain acyl-coenzyme A dehydrogenase deficiency, phenylketonuria, sickle cell disease and other hemoglobinopathies, and tyrosinemia. Also addressed are disorder incidence/prevalence, pathophysiology, inheritance patterns, follow-up and diagnosis, benefits of screening, controversies, and overview of disease management.

In a companion article, other important topics related to newborn screening are addressed with regard to the latest evidence.2 These topics include newborn screening as a public health system; informed consent; tandem mass spectrometry; DNA analysis in newborn screening in the United States; and the effect of sample timing, preterm birth, diet, transfusion, and total parenteral nutrition on newborn screening results.

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