Newborn Screening

What is Newborn Screening?

• Newborn screening is a set of routine medical tests performed shortly after birth to identify serious but treatable health conditions.
• Many babies appear healthy at birth but may have hidden disorders.
• Early detection allows early treatment and prevention of complications.
• Usually done within 24-48 hours after birth.
• Early detection allows timely treatment.
• Helps prevent developmental delays and serious complications.

Types of Newborn Screening

• Blood Test (Heel Prick Test)
  • Small blood sample collected from baby’s heel.
  • Detects metabolic, genetic, hormonal, and immune disorders.
  • Results usually available within 5–7 days.
• Hearing Screening
  • Uses small earphones to assess response to sound.
  • Identifies early hearing loss.
  • Helps early speech and language development.
• Heart Screening (Pulse Oximetry)
  • Measures oxygen level in blood.
  • Detects critical congenital heart defects (CCHD).
  • Non-invasive and painless test.

Conditions Detected by Newborn Screening

• Metabolic Disorders
  • Phenylketonuria (PKU)
  • Organic acid disorders
  • Fatty acid oxidation disorders
• Endocrine Disorders
  • Congenital hypothyroidism
  • Adrenal disorders
• Genetic Disorders
  • Cystic fibrosis
  • Hemoglobin disorders (e.g., sickle cell disease)
• Immune Disorders
  • Severe Combined Immunodeficiency (SCID)
  • T-cell deficiencies

Why Newborn Screening Matters

• Prevents serious health problems.
• Reduces risk of disability.
• Allows early treatment and better outcomes.
• Helps parents and doctors plan care.
• May reduce long-term healthcare costs.