Abstract | PURPOSE: The current Clinical and Laboratory Standards Institute standard recommends blood collection from 24 to 48 hours after birth for newborn genetic disorder screening. We used California population-level data to determine whether early specimens (collected from 12 to 23 hours) would also be considered satisfactory based on screening performance. METHODS: Screening data from California Genetic Disease Screening Program were analyzed for false-negative and false-positive rates in four disease categories: metabolic disorders detectable by tandem mass spectrometry (MS/MS); congenital adrenal hyperplasia (CAH); congenital hypothyroidism (CH); and initial immune reactive trypsinogen (IRT) for cystic fibrosis (CF). We compared the rates between the early-collection group (12 to 23 hours) and the standard-collection group (24 to 48 hours). RESULTS: No significant difference of false-negative rate was detected between the two collection-timing groups. Early specimens had a significantly higher false-positive rate for CH (0.10 vs. 0.01%) and IRT (1.85 vs. 1.54%) but a lower false-positive rate for MSMS metabolic disorders (0.11 vs. 0.18%) and CAH (0.10 vs. 0.14%). CONCLUSION: Newborn specimens collected after 12 hours provided satisfactory screening performance. A policy allowing earlier collection could improve timeliness of reporting screening results.
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Authors | Hao Tang, Lisa Feuchtbaum, Partha Neogi, Thomson Ho, Leslie Gaffney, Robert J Currier |
Journal | Genetics in medicine : official journal of the American College of Medical Genetics
(Genet Med)
Vol. 18
Issue 3
Pg. 259-64
(Mar 2016)
ISSN: 1530-0366 [Electronic] United States |
PMID | 26656653
(Publication Type: Comparative Study, Journal Article)
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Topics |
- Adrenal Hyperplasia, Congenital
(diagnosis)
- Blood Specimen Collection
(standards)
- California
- Cohort Studies
- Congenital Hypothyroidism
(diagnosis)
- Cystic Fibrosis
(diagnosis)
- False Positive Reactions
- Genetic Testing
(standards)
- Humans
- Infant, Newborn
- Male
- Metabolic Diseases
(diagnosis)
- Neonatal Screening
(methods, standards)
- Time Factors
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