Sani-cloth wipe mimics rare enzyme deficiency malonic aciduria on newborn screen.
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.
Department of Pathology, Sanford School of Medicine of the University of South Dakota, Sioux Falls, South Dakota 57105, USA. bailey.reindl@usd.edu
Bailey A
BA
Reindl
Douglas W
DW
Lynch
Michael
M
Ramirez
Marcia
M
Valbracht
Laura
L
Davis-Keppen
Kimberlee C
KC
Tams
Sarah
S
Groeneveld
D001774:Blood Chemical Analysis / Q000379:methods; D002262:Carboxy-Lyases / Q000097:blood / Q000172:deficiency; D004340:Drug Contamination; D004865:Equipment and Supplies, Hospital; D005189:False Positive Reactions; D006801:Humans; D007231:Infant, Newborn; D008316:Malonyl Coenzyme A; D008661:Metabolism, Inborn Errors / Q000097:blood* / Q000175:diagnosis*; D008764:Methylmalonic Acid / Q000097:blood; D015997:Neonatal Screening
D008316:Malonyl Coenzyme A; D008764:Methylmalonic Acid; D002262:Carboxy-Lyases