Document Detail

Multiple positive results during a neonatal screening program: a retrospective analysis of incidence, clinical implications and outcomes.
MedLine Citation:
PMID:  15914349     Owner:  NLM     Status:  MEDLINE    
AIMS: Neonatal screening programs perform different screening tests on the same blood-spot sample collected on a Guthrie card. We retrospectively investigated the incidence of multiple positive results as well as the outcomes and the physical characteristics of newborns with more than one positive result for phenylketonuria (PKU), congenital hypothyroidism (CH) and congenital adrenal hyperplasia (CAH). METHODS: Neonatal screening was performed on blood-spot for PKU (phenylalanine concentration by fluorescent ninhydrine method), for CH (simultaneous total thyroxin (tT4) and thyroid-stimulating hormone (TSH) levels by fluoroimmunometric assay); and for CAH (17-hydroxyprogesteron level by fluoroimmunometric assay). RESULTS: During three years of screening, 39 newborns (37 preterms) showed multiple positive results at screening tests (incidence 1:6387). The most frequent positive results were the combinations of CH and CAH (25/39) and PKU and CH (12/39). At recall, only two newborns were confirmed positive and each for only one disease: one, premature baby, for PKU from the PKU and CH combination; the other, born at term, for CAH from the CH and CAH combination. CONCLUSIONS: Multiple positive results are a rare observation at neonatal screening for PKU, CH and CAH, more frequently observed in preterm babies. However, multiple positive results must not be overlooked because of true positive results at recall.
Marco Zaffanello; Claudio Maffeis; Giorgio Zamboni
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Journal of perinatal medicine     Volume:  33     ISSN:  0300-5577     ISO Abbreviation:  J Perinat Med     Publication Date:  2005  
Date Detail:
Created Date:  2005-05-25     Completed Date:  2005-10-05     Revised Date:  2005-11-17    
Medline Journal Info:
Nlm Unique ID:  0361031     Medline TA:  J Perinat Med     Country:  Germany    
Other Details:
Languages:  eng     Pagination:  246-51     Citation Subset:  IM    
Department of Pediatrics, University of Verona, Italy.
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MeSH Terms
Adrenal Hyperplasia, Congenital / diagnosis,  epidemiology
Congenital Hypothyroidism
False Positive Reactions
Gestational Age
Hypothyroidism / diagnosis,  epidemiology
Infant, Newborn
Infant, Newborn, Diseases / diagnosis*,  epidemiology*
Infant, Premature, Diseases / diagnosis,  epidemiology
Italy / epidemiology
Neonatal Screening / methods*
Outcome Assessment (Health Care) / statistics & numerical data
Phenylketonurias / diagnosis,  epidemiology
Retrospective Studies

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