Reference — Neonatal
Newborn Screening Tests Reference
Three universal screens, each catching invisible-at-birth conditions that are devastating if found late and treatable if found early. Here is what each one tests, when to do it, and the cost of missing it.
Educational use only. Panels and exact thresholds vary by state/region; confirmatory testing follows the screening program’s instructions. Verify current local requirements. This material supports nursing education and exam review. It is not medical advice and is not a substitute for clinical judgment, institutional policy, or medical direction. Always follow facility protocols and current provider orders.
The Three Universal Screens
| Screen | Timing | Catches | If missed |
|---|---|---|---|
| Blood-spot (heel-stick) panel | After ≥24 h of feeding; repeat if drawn earlier | PKU, congenital hypothyroidism, galactosemia, sickle cell disease, cystic fibrosis, MCAD, CAH, and more | Irreversible intellectual disability, metabolic crisis, or death — most are silent until damage is done |
| Hearing screen (OAE / AABR) | Before discharge; 1-3-6 (screen 1 mo, dx 3 mo, intervene 6 mo) | Congenital hearing loss | Lost language development; 'refer' result needs re-test |
| CCHD pulse oximetry | ≥24 h of age; right hand + a foot | Critical congenital heart disease (ductal-dependent lesions) | Collapse at home when the ductus closes |
High-Yield Disorders
| Disorder | Key point |
|---|---|
| PKU (phenylketonuria) | Can't metabolize phenylalanine; treated with lifelong low-phe diet — normal development if started early |
| Congenital hypothyroidism | Most common preventable cause of intellectual disability; daily levothyroxine |
| Galactosemia | Can't metabolize galactose; NO breast milk or standard formula — soy-based feeding |
| Sickle cell disease | Early diagnosis enables penicillin prophylaxis and parent education |
| Cystic fibrosis | Early nutritional and pulmonary management improves outcomes |
Heel-Stick Technique Reminders
Warm the heel; puncture the lateral aspect (never the center — calcaneus). Fill each circle completely in one application; don’t squeeze/milk (hemolysis) or layer drops. Air-dry the card flat and ship promptly. Use sucrose, swaddling, or breastfeeding for comfort during the stick.
NCLEX Pearls
- ✦Blood-spot panel is accurate after ≥24 h of feeding (phenylalanine must accumulate) — early-discharge babies need a repeat.
- ✦Galactosemia: no breast milk/standard formula — soy-based; congenital hypothyroidism: lifelong levothyroxine.
- ✦CCHD pulse-ox at ≥24 h on the right hand + a foot; fail → echocardiogram.
- ✦Hearing 1-3-6: screen by 1 mo, diagnose by 3, intervene by 6; a 'refer' means re-test.
- ✦These are SCREENS — a positive needs urgent confirmatory testing, not a wait.
Related Resources
Standards & sources
Fact-checked Jun 21, 2026This page is written to align with American Academy of Pediatrics (AAP) · Neonatal Resuscitation Program (NRP) · AWHONN. It is an educational summary, not a citation of any single document — always verify specific doses, values, and protocols against current guidelines and your facility policy. How we source content →
