A Primer on Newborn Screening

Specialties Ob/Gyn


  • Home Health Columnist / Guide
    Specializes in Vents, Telemetry, Home Care, Home infusion.

found at medscape nurses

from advances in neonatal care official journal of the national association of neonatal nurses


a primer on newborn screening

posted 12/08/2004

spacer.gif kristin gatrell bryant, rn, bsn, msn; kimberly m. horns, rnc, nnp, phd; nicola longo, md, phd; julieanne schiefelbein, mappsc, rnc, ma (ed), rm, pnp, nnp


abstract and introduction


metabolic disorders are individually rare, but when considered together as a disease entity are relatively frequent, occurring in 1 in 1000 to 1 in 3000 infants. some disorders can have devastating and irreversible outcomes if not diagnosed early and treated promptly. newborn screening is a vital step in identifying infants with inborn metabolic disorders, hemoglobinopathies, infectious processes, and congenital endocrinopathies; the goal is early recognition and treatment. this article summarizes the critical aspects of newborn screening, comparing and contrasting current national screening practices, and identifying key considerations for clinical care, parental education, and support. to prevent morbidity and mortality, healthcare providers must understand the purpose and guidelines for newborn screening. providers are also responsible for informing parents about the implications of newborn screening to improve awareness and understanding.

full article requires free registration:



534 Posts

Specializes in private duty/home health, med/surg.

I appreciate hearing the statistics expressed in terms of the whole group of metabolic disorders. Wow...1 in 1000 to 1 in 3000?

When I was pregnant with my youngest a few years back, I remember reading discussions on parenting boards by expectant moms with "natural" birth/postpartum plans that included "No newborn screen." Their rationale was that it was unneeded pain for the baby, since the diseases are so rare. I always pointed out how permanently devastating these diseases are when left untreated, but it never seemed to matter to them.


7 Posts

what a huge, comprehensive article. it's really great. i'm so glad you took the time to point it out to us.

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