newborn screening
Each of these disorders presents a unique challenge for clinical providers
and the newborn screening community in that the severity and age of onset
differ in each individual, making it difficult to diagnose these conditions.
and equipment, accessing education
and resources, and clinical intervention.
To help overcome these challenges,
programs received information and
potential solutions from policy, laboratory,
follow-up and clinical leaders.
Despite these dilemmas, early initiation
of newborn screening can delay adverse
outcomes, especially in babies born
with the most severe forms of these
disorders. Babies born with classic
infantile-onset Pompe, MPS I H (Hurler
syndrome) or childhood cerebral X-ALD
often die within the first year of life
or early childhood. Early detection
through newborn screening allows for
life-saving medical intervention before
symptom onset of these disorders.
At the meeting, state programs exchanged
their experiences implementing new
disorders and shared strategies and
resources. Implementation challenges
included gaining legislative or statutory
approval, hiring laboratory and follow-up
staff, obtaining funding for personnel
NewSTEPs will continue to support
state newborn screening programs
to implement screening for Pompe,
MPS I and X-ALD through webinars,
trainings and educational workshops,
policy work, national meetings,
readiness assessments and RFPs. n
Muscle biopsy showing large vacuoles in a case of pompes
disease (acid maltase deficiency, HE stain, frozen section).
DIGITAL EXTRA:
For more information regarding NewSTEPs
services, please visit the website.
Newborn Screening
Your Starting Point for Pediatric Health
NBS04 | Newborn Screening by Tandem Mass Spectrometry
!
W
NE
2nd Edition
NBS04
Newborn Screening by Tandem Mass
Spectrometry
!
This guideline serves as a reference for the multiple activities
W
NE
related to operating a tandem mass spectrometry laboratory as
part of public and private newborn screening programs.
A guideline for global application developed through the Clinical and Laboratory Standards Institute consensus process.
1st Edition
NBS07
Newborn Blood Spot Screening for Pompe
Disease by Lysosomal Acid α-Glucosidase
Activity Assays
Keep your laboratory up-to-date on new test methods for the detection of metabolic disorders
in newborns using tandem mass spectrometry.
NBS07 | Newborn Blood Spot Screening for Pompe Disease by
Lysosomal Acid α-Glucosidase Activity Assays
Learn about current methods for detection of Pompe Disease (PD) using dried blood
spot specimens to measure acid α-glucosidase enzyme activity.
This report discusses the detection of Pompe disease (PD) by
population-based newborn screening using dried blood spot
specimens to measure acid α-glucosidase enzyme activity. Classic
infantile-onset PD is a lethal disorder that is not evident at
birth, and therapy effectiveness is improved by presymptomatic
detection.
Browse these and more of our Newborn Screening products at clsi.org/nbs.
A CLSI report for global application.
PublicHealthLabs
@APHL
APHL.org
Summer 2017 LAB MATTERS
25