Newborn screening

Newborn screening uses tests soon after birth to identify selected conditions before symptoms appear, enabling timely diagnosis and treatment.

Dried blood spot: A blood sample dried on filter paper for storage and laboratory analysis. Heel-prick blood is commonly collected this way for biochemical and genetic screening.
Inborn errors of metabolism: Inherited disorders that disrupt chemical reactions needed to process substances in the body. Many established newborn screening targets are metabolic disorders detectable before symptoms.
Newborn Screening Saves Lives Reauthorization Act: A United States law supporting newborn screening programs, research, and coordination. It illustrates how public policy funds and organizes screening beyond laboratory testing.
Newborn screening in the United States: A state-administered public-health system that tests newborns for selected conditions across the United States. State panels, follow-up systems, and legal requirements shape access to screening.
Expanded carrier screening: Testing prospective parents for many genetic variants that could cause inherited disorders in their children. Unlike newborn screening, it assesses reproductive risk before pregnancy or birth.
Tandem mass spectrometry: An analytical technique that identifies and measures molecules by their mass-to-charge ratios. It lets laboratories screen one blood spot for many metabolic disorders at once.
Phenylketonuria: An inherited disorder in which impaired phenylalanine breakdown can cause neurological harm without dietary treatment. Its early detection and treatment helped establish the value of newborn screening.
Recommended Uniform Screening Panel: A United States advisory list of conditions recommended for state newborn screening programs. It provides a national reference while states retain authority over their screening panels.
Wilson–Jungner criteria: Principles proposed by the World Health Organization for deciding whether a condition is suitable for screening. They frame decisions about whether a condition belongs on a newborn screening panel.
Whole-genome sequencing: Determining the DNA sequence across nearly all of a person's genome. Its potential use at birth raises questions about which findings should be sought and disclosed.

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