Newborn Screening Glossary

Cases where contact with families is lost before completing necessary follow-up testing or care.

Genetic conditions caused by lysosomal enzyme deficiencies, some of which are included in newborn screening panels.

Medium-chain acyl-CoA dehydrogenase deficiency, a fatty acid oxidation disorder.

An inherited condition affecting the body's ability to process specific nutrients or produce essential enzymes, detectab...

A physician with expertise in diagnosing and managing inborn errors of metabolism.

Inherited disorder of organic acid metabolism causing accumulation of methylmalonic acid.

Laboratory instrument that measures optical signals from samples arranged in multi-well plates.

DNA-based confirmatory testing used to identify specific genetic mutations after abnormal newborn screening results.

Maple syrup urine disease, a rare inherited disorder affecting amino acid metabolism.

Special screening protocols and result interpretation for twins, triplets, or higher-order multiple births.

Laboratory process that simultaneously tests for multiple disorders from a single blood sample.

National network supporting newborn screening research and quality improvement initiatives.

A specialized newborn screening protocol for infants in neonatal intensive care units.

National Newborn Screening and Global Resource Center providing program support and information resources.

Enzyme whose deficiency causes phenylketonuria, converting phenylalanine to tyrosine.

Phenylketonuria, a genetic disorder affecting amino acid metabolism.

Newborn screening tests performed at the bedside or in clinical areas rather than in central laboratories.

Diagnostic testing performed at or near the site of patient care rather than in a central laboratory.

Initial screening result suggesting possible presence of a condition requiring follow-up testing.

A direct enzyme or protein defect causing the screened disorder, as opposed to secondary causes.

External quality assessment using standardized samples to evaluate laboratory testing accuracy and precision.

Systematic assessment of newborn screening program performance and outcomes.

Proportion of affected infants correctly identified by a newborn screening program.

Non-invasive test measuring blood oxygen saturation to detect critical congenital heart disease.