Pediatric Care
5 min read

Newborn Screening Tests: What Every Parent Should Know

Newborn screening identifies infants with serious health conditions treatable early in life, preventing disability, developmental delays, and death. Understanding which conditions are screened and why empowers parents to support their child's health from birth.Most U.S. newborns receive screening for approximately 30 to 35 conditions including critical congenital heart disease, severe combined immunodeficiency, sickle cell disease, and metabolic disorders. A small blood sample collected from the baby's heel several days after birth enables laboratory testing. Early detection allows prompt treatment before serious symptoms develop.Critical congenital heart disease screening identifies heart defects before discharge, enabling specialist evaluation and treatment planning. Some heart defects don't produce obvious symptoms but cause significant health problems without intervention. Early detection enables specialized care and monitoring preventing emergencies.Metabolic disorder screening identifies conditions like phenylketonuria where babies lack enzymes processing certain amino acids. Without treatment, these conditions cause severe developmental disability. Dietary management starting immediately after diagnosis prevents complications and enables normal development.Different states screen for varying numbers of conditions, so parents should discuss which conditions their baby was screened for. Follow-up testing confirms initial positive screens, as false positives occur. Parents will be contacted if results warrant follow-up. Understanding screening results and recommended follow-up actions enables prompt intervention if issues are identified, supporting child health and development.

Written by
Dr. Sarah Chen
Published on
15 March 2024
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