Neonatal Screening Glossary

Testing pregnant women for phenylketonuria to prevent maternal PKU syndrome in offspring.

Medium-chain acyl-CoA dehydrogenase deficiency, a fatty acid oxidation disorder causing episodic metabolic crises.

Medium-chain ketoacyl-CoA thiolase deficiency, a rare fatty acid oxidation disorder detected through acylcarnitine analy...

The physiological challenge that reveals underlying metabolic disorders during the transition from placental to independ...

A comprehensive analysis of small molecule metabolites in dried blood spots to detect inborn errors of metabolism.

A group of inherited metabolic disorders affecting the breakdown of certain proteins and fats, detectable through newbor...

Metachromatic leukodystrophy, a lysosomal storage disorder that may be included in expanded newborn screening programs.

Maple syrup urine disease, a rare metabolic disorder causing inability to break down branched-chain amino acids.

Enzymatic testing in dried blood spots to detect lysosomal storage disorders affecting glycosaminoglycan metabolism.

Tandem mass spectrometry technique monitoring specific ion transitions to quantify multiple metabolites simultaneously i...

Laboratory technique simultaneously measuring multiple analytes in a single dried blood spot using different detection m...

Specialized procedures for obtaining newborn screening specimens from critically ill infants.

Modified screening protocols for infants in neonatal intensive care units, accounting for medical interventions and prem...

Otoacoustic emissions, sounds produced by the inner ear that are measured to assess hearing function in newborn screenin...

Screening result that falls outside established reference ranges, triggering follow-up evaluation or repeat testing.

The ratio of phenylalanine to tyrosine levels used to improve specificity in PKU screening.

A genetic disorder where the body cannot break down the amino acid phenylalanine, leading to intellectual disability if...

Abbreviation for phenylketonuria, a genetic disorder affecting amino acid metabolism.

Enzymatic assay measuring acid alpha-glucosidase activity in dried blood spots to detect glycogen storage disease type I...

The probability that a newborn with a positive screening result actually has the condition being tested for.

Factors affecting sample quality and analyte stability before laboratory analysis in newborn screening programs.

Referring to the period before clinical symptoms develop, when newborn screening can identify affected infants for early...

External quality assessment program that evaluates laboratory performance using standardized samples with known values.

A non-invasive method to measure oxygen saturation in blood, used in newborn screening for critical congenital heart dis...