ArticleGenetics in medicine : official journal of the American College of Medical Genetics2016
Damaged goods?: an empirical cohort study of blood specimens collected 12 to 23 hours after birth in newborn screening in California.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
7 citing papers in PubMed.
- dbRUSP: An Interactive Database to Investigate Inborn Metabolic Differences for Improved Genetic Disease Screening.International journal of neonatal screening · 2022Article
- Targeted next generation sequencing for newborn screening of Menkes disease.Molecular genetics and metabolism reports · 2020Article
- The role of exome sequencing in newborn screening for inborn errors of metabolism.Nature medicine · 2020Article
- Timing of Newborn Blood Collection Alters Metabolic Disease Screening Performance.Frontiers in pediatrics · 2020Article
- Wisconsin's Screening Algorithm for the Identification of Newborns with Congenital Adrenal Hyperplasia.International journal of neonatal screening · 2019Article
- Sequencing-based diagnostics for pediatric genetic diseases: progress and potential.Expert review of molecular diagnostics · 2016Review
- Newborn testing and screening by whole-genome sequencing.Genetics in medicine : official journal of the American College of Medical Genetics · 2016Article
Corrections and comments
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Authors and funding
6 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeThe 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.
methodsScreening 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).
resultsNo 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%).
conclusionNewborn 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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Registered trials
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