Newborn screening tests heel-prick blood spots for 50+ treatable disorders like hypothyroidism (TSH), PKU, G6PD, CAH (17-OHP), fatty acid oxidation via tandem MS/MS. Early detection (24-72 hrs) prevents retardation, death. Expanded panels like Neoxpert 48 analytes comprehensive.

Routine for all Indian newborns; mandatory many states.

Why Is This Test Recommended?
You may need this test to:

• Detect congenital hypothyroidism (1:2000) early thyroxine​

• Screen metabolic like PKU diet prevents IQ loss​

• G6PD deficiency prevent hemolytic crisis​

• Cystic fibrosis, biotinidase nationwide push​

• Organic acidurias tandem MS sensitive​

Symptoms or Conditions That May Require Newborn Screening

• Poor feeding/lethargy day 2-5​

• Prolonged jaundice unexplained​

• Family metabolic disorder history​

• Consanguineous parents higher risk​

• NICU admission expanded panel​

Why Newborn Screening?
Life-saving; treats before irreversible brain/kidney damage manifests.​

How Prepare?
Feed baby 24-48 hrs post-birth stabilizes analytes.
No topical pre-heel warm.
Hospital/midwife collects.​

How Performed?
Neonatal heel prick:
Warm heel, lancet prick lateral.
4-5 spots on Guthrie card dry 3hrs.
MS/MS lab analyzes acylcarnitines/amino acids.
24-48hr TAT urgent positives.​

What Happens After?
Breastfeed continue; retest if premature.
Positive: Confirmatory blood urgent.​

When Consult?
Any out-of-range analyte flagged.
Repeat screening requested.​

Risks
Heel pain brief; bruising rare.
False positive 0.5% confirmatory.​

Lifestyle Tips
Exclusive breastfeeding 6 months.
Vaccinate timely.
Growth monitoring.​

What Measures?
TSH >20 µU/mL hypo.
17OHP >30 ng/mL CAH.
G6PD enzyme activity.​

Results Meaning
Normal: All in cutoff ranges.
Elevated: Immediate specialist referral.​

If Abnormal
Endocrinology Rx e.g., levothyroxine drops.
Dietitian PKU formula.​

Affected By?
Prematurity low levels.
Transfusions interfere.​

Factors
Timing >24hr critical.
Feeding status.​

FAQs
When? Day 2-5 optimal.​
Normal TSH? <10 µU/ml.​​
Fasting baby? No feed first.​
Heel safe? Yes standard.​
Retest when? Premature/positive.​​