Published Dec 16, 2004
found at medscape nurses
from advances in neonatal care official journal of the national association of neonatal nurses
a primer on newborn screening
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:
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.
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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