Today, virtually all (>99%) of the more than 4 million infants born in the United States each year are screened for conditions such as phenylketonuria, congenital hypothyroidism, galactosemia, and hemoglobinopathies. CLSI’s newborn screening standards provide the critical guidance needed to detect potentially life-threatening and debilitating conditions for better outcomes and healthy, happy infants.
Blood Collection on Filter Paper for Newborn Screening Programs; Approved Standard—Sixth Edition (NBS01-A6)
This document highlights specimen collection methods, discusses acceptable techniques for applying blood drops or aliquots to the filter paper segment of the specimen collection device, and provides instructions on proper specimen handling and transport to ensure quality specimens are consistently obtained for newborn screening analysis.
Additional NBS01-A6 Companion Products:
Making a Difference Through Newborn Screening: Blood Collection on Filter Paper DVD (NBS01-A6-DVD)
Specimen Collection and Sample Quality for Newborn Screening Quick Guide (NBS01-A6 QG)
Newborn Screening Follow-up; Approved Guideline—Second Edition (NBS02-A2)
This guideline describes the basic principles, scope, and range of follow-up activities within the newborn screening system.
Additional NBS02-A2 Companion Product:
Newborn Screening Follow-up Process Quick Guide (NBS02-A2 QG)
Newborn Screening for Preterm, Low Birth Weight, and Sick Newborns; Approved Guideline (NBS03-A)
This guideline outlines the recommended protocols for screening preterm, sick, or low birth weight infants for hearing loss and disorders detectable through dried blood spot testing.
Additional NBS03-A Companion Product:
Algorithm for Newborn Screening of Preterm, Low Birth Weight, and Sick Newborns Quick Guide (NBS03-A QG)
Newborn Screening by Tandem Mass Spectrometry; Approved Guideline
This guideline serves as a reference source for the numerous activities related to operating a tandem mass spectrometry laboratory as part of public and private newborn screening programs with the goal of creating greater test accuracy, performance, and consistency among laboratories, thereby ensuring data quality that will ultimately benefit all newborns worldwide.
Newborn Screening for Cystic Fibrosis; Approved Guideline (NBS05-A)
This document describes the use of newborn screening laboratory tests for detecting risk for cystic fibrosis from newborn dried blood spots (DBS) and addresses both the primary screening tests and the reflex tests performed on DBS.
Newborn Blood Spot Screening for Severe Combined Immunodeficiency by Measurement of T-cell Receptor Excision Circles; Approved Guideline (NBS06-A)
This document addresses the detection of severe combined immunodeficiency (SCID) by population-based newborn screening using dried blood spot specimens to measure T-cell receptor excision circles. SCID is a lethal disorder of infancy that is not evident at birth, and effective treatment requires presymptomatic detection.
Additional NBS06-A Companion Products:
Immunodeficiency Disorders and T-cell Receptor Excision Circle Values in the Newborn Screening (NBS06-A WC)
Improve the health outcome and quality of life of children by collecting the best possible newborn screening blood specimens and implementing effective follow-up services.
• NBS01-A6—Blood Collection on Filter Paper for Newborn Screening Programs; Approved Standard—Sixth Edition
• NBS01-A6 DVD—Making a Difference Through Newborn Screening: Blood Collection on Filter Paper DVD
• NBS01-A6 QG—Specimen Collection and Sample Quality for Newborn Screening Quick
o How to Collect an Acceptable Blood Spot Specimen
o Simple Spot Check
• NBS02-A2—Newborn Screening Follow-up; Approved Guideline—Second Edition
• NBS02-A2 QG—Newborn Screening Follow-up Process Quick Guide
• NBS03-A—Newborn Screening for Preterm, Low Birth Weight, and Sick Newborns; Approved Guideline
• NBS03-A QG—Algorithm for Newborn Screening of Preterm, Low Birth Weight, and Sick Newborns Quick Guide
• NBS04-A—Newborn Screening by Tandem Mass Spectrometry; Approved Guideline
• NBS05-A—Newborn Screening for Cystic Fibrosis; Approved Guideline
• NBS06-A—Newborn Blood Spot Screening for Severe Combined Immunodeficiency by Measurement of T-cell Receptor Excision Circles; Approved Guideline
• NBS06-A QG1—Generic Flow Chart for Assays to Measure T-cell Receptor Excision Circles in Newborn Dried Blood Spot Specimens Quick Guide
• NBS06-A QG2—Schematic for Preparing Dried Blood Spot Reference Materials Quick Guide
• NBS06-A WC—Immunodeficiency Disorders and T-cell Receptor Excision Circle Values in the Newborn Screening Period Wall Chart