Newborn Screening Glossary

A small circular section cut from a dried blood spot card for laboratory analysis.

Systematic processes ensuring consistent and reliable newborn screening test performance.

The predetermined analyte concentration above which infants are referred for diagnostic evaluation.

A second screening test performed due to early collection timing or borderline initial results.

Recommended Uniform Screening Panel, the federal advisory panel's recommended conditions for newborn screening.

Life-threatening emergency in CAH where infants lose sodium and become dehydrated and hypotensive.

Severe combined immunodeficiency, a group of inherited immune system disorders.

The percentage of newborn screening tests that exceed established cutoff values requiring follow-up.

Additional laboratory analysis performed on the original blood spot to reduce false positive rates.

Immediate clinical evaluation required within days to weeks of a positive screening result.

The quality assessment of collected blood samples to ensure reliable newborn screening test results.

Laboratory determination that a blood spot sample cannot be processed due to quality issues.

Information management system that monitors newborn screening specimens from collection through result reporting.

Required temperature conditions for maintaining newborn screening sample integrity during shipping.

Biochemical cascade involved in hormone production, disrupted in congenital adrenal hyperplasia screening.

The buildup of compounds that cannot be properly metabolized due to enzyme deficiencies.

Confirmatory diagnostic test for cystic fibrosis measuring chloride levels in sweat.

Laboratory technique used to analyze multiple metabolites in dried blood spots.

A pituitary hormone measured in newborn screening to detect congenital hypothyroidism.

Screening result requiring immediate medical intervention to prevent serious complications.

Alteration of newborn screening results due to blood transfusion prior to specimen collection.

Screening results that correctly identify unaffected individuals as negative.

Thyroid-stimulating hormone measured in newborn screening to detect congenital hypothyroidism.

Severe inherited disorder of tyrosine metabolism affecting liver and kidney function.