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    
Abstract/OtherAbstract:
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.
Authors:
Marco Zaffanello; Claudio Maffeis; Giorgio Zamboni
Related Documents :
19597679 - Screening, diagnosing and treating deafness: the knowledge and conduct of doctors servi...
6691039 - Hearing screening of high-risk newborns with brainstem auditory evoked potentials: a fo...
20605539 - Guidelines on the early management of infants diagnosed with cystic fibrosis following ...
15811169 - Population pharmacokinetic investigation of phenobarbital by mixed effect modelling usi...
24933199 - Changed outcomes of fetuses with congenital heart disease: new italian multicentre study.
62949 - Effects of incubator noise on the cochlea of the newborn.
15211709 - High rates of neural tube defects in ukraine.
19597679 - Screening, diagnosing and treating deafness: the knowledge and conduct of doctors servi...
12634139 - An investigation of unexplained infant deaths in houses contaminated with methyl parath...
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    
Affiliation:
Department of Pediatrics, University of Verona, Italy. marco.zaffanello@medicina.univr.it
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Descriptor/Qualifier:
Adrenal Hyperplasia, Congenital / diagnosis,  epidemiology
Comorbidity
Congenital Hypothyroidism
False Positive Reactions
Female
Gestational Age
Humans
Hypothyroidism / diagnosis,  epidemiology
Incidence
Infant, Newborn
Infant, Newborn, Diseases / diagnosis*,  epidemiology*
Infant, Premature, Diseases / diagnosis,  epidemiology
Italy / epidemiology
Male
Neonatal Screening / methods*
Outcome Assessment (Health Care) / statistics & numerical data
Phenylketonurias / diagnosis,  epidemiology
Retrospective Studies

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


Previous Document:  Visual analysis of antepartum fetal heart rate tracings: inter- and intra-observer agreement and imp...
Next Document:  Thrombocytopoiesis in healthy term newborns.