Document Detail

Sani-Cloth Wipe Mimics Rare Enzyme Deficiency Malonic Aciduria on Newborn Screen.
MedLine Citation:
PMID:  23071203     Owner:  NLM     Status:  Publisher    
Within a 7-month period at our institution, newborn screening by tandem mass spectrometry revealed 10 cases with elevated levels of malonylcarnitine, which suggested malonic aciduria. Malonic aciduria is a rare autosomal recessive inborn error of metabolism. Confirmatory testing yielded normal results in all the newborns involved. The application of quality improvement practices dictated investigating the dried blood spot collection process, which revealed the use of multiple blood-collection techniques by newborn nursery staff, improper handling of the dried blood spot specimens, and sanitary wipe contamination as the causes of the aberrant false-positive results at our institution. This systematic evaluation identified the cause of the aberrant false-positive results and a strategy was implemented to avoid aberrant results in the future. Thus far, no false-positive results have occurred since the investigative process. False-positive results on a newborn screen can cause unnecessary emotional and economic stress on families, a finding that was identified at our institution. Historically, false-positive newborn screening results have been identified in infants born by cesarean delivery in which iodine antiseptic was used and in newborns who receive total parenteral nutrition, such as premature infants in the NICU. Therefore, if an unusually high number of false-positive results are found during the newborn screening process, contamination should be considered as a contributing factor.
Bailey A Reindl; Douglas W Lynch; Michael Ramirez; Marcia Valbracht; Laura Davis-Keppen; Kimberlee C Tams; Sarah Groeneveld
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2012-10-15
Journal Detail:
Title:  Pediatrics     Volume:  -     ISSN:  1098-4275     ISO Abbreviation:  Pediatrics     Publication Date:  2012 Oct 
Date Detail:
Created Date:  2012-10-16     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0376422     Medline TA:  Pediatrics     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Department of Pathology, Sanford School of Medicine of the University of South Dakota, Sioux Falls, South Dakota;
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