title: Damaged goods?: an empirical cohort study of blood specimens collected 12 to 23 hours after birth in newborn screening in California.
abstract: OBJECTIVE
  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%).
  
  
  CONCLUSIONS
  Newborn specimens collected after 12 hours provided satisfactory screening performance. A policy allowing earlier collection could improve timeliness of reporting screening results.
authors.affiliation: Genetic Disease Screening Program, California Department of Public Health, Richmond, California, USA.
authors.forename: Hao
authors.identifier: http://orcid.org/0000-0001-9409-5220
authors.initials: H
authors.lastname: Tang
authors.affiliation: Genetic Disease Screening Program, California Department of Public Health, Richmond, California, USA.
authors.forename: Lisa
authors.initials: L
authors.lastname: Feuchtbaum
authors.affiliation: Genetic Disease Screening Program, California Department of Public Health, Richmond, California, USA.
authors.forename: Partha
authors.initials: P
authors.lastname: Neogi
authors.affiliation: Genetic Disease Screening Program, California Department of Public Health, Richmond, California, USA.
authors.forename: Thomson
authors.initials: T
authors.lastname: Ho
authors.affiliation: Genetic Disease Screening Program, California Department of Public Health, Richmond, California, USA.
authors.forename: Leslie
authors.initials: L
authors.lastname: Gaffney
authors.affiliation: Genetic Disease Screening Program, California Department of Public Health, Richmond, California, USA.
authors.forename: Robert J
authors.identifier: http://orcid.org/0000-0001-9168-5604
authors.initials: RJ
authors.lastname: Currier
mesh_terms: D000312:Adrenal Hyperplasia, Congenital / Q000175:diagnosis*; D001800:Blood Specimen Collection / Q000592:standards*; D002140:California; D015331:Cohort Studies; D003409:Congenital Hypothyroidism / Q000175:diagnosis*; D003550:Cystic Fibrosis / Q000175:diagnosis*; D005189:False Positive Reactions; D005820:Genetic Testing / Q000592:standards; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008659:Metabolic Diseases / Q000175:diagnosis*; D015997:Neonatal Screening / Q000379:methods / Q000592:standards*; D013997:Time Factors