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. 2018 Jan 26;56(2):278-284.
doi: 10.1515/cclm-2017-0270.

Contamination of dried blood spots - an underestimated risk in newborn screening

Theresa Winter  1 , Anja Lange  2 , Anke Hannemann  1 , Matthias Nauck  1   3 , Cornelia Müller  1
Affiliations

Contamination of dried blood spots - an underestimated risk in newborn screening

Theresa Winter et al. Clin Chem Lab Med. .

Abstract

Background: Newborn screening (NBS) is an established screening procedure in many countries worldwide, aiming at the early detection of inborn errors of metabolism. For decades, dried blood spots have been the standard specimen for NBS. The procedure of blood collection is well described and standardized and includes many critical pre-analytical steps. We examined the impact of contamination of some anticipated common substances on NBS results obtained from dry spot samples. This possible pre-analytical source of uncertainty has been poorly examined in the past.

Methods: Capillary blood was obtained from 15 adult volunteers and applied to 10 screening filter papers per volunteer. Nine filter papers were contaminated without visible trace. The contaminants were baby diaper rash cream, baby wet wipes, disinfectant, liquid infant formula, liquid infant formula hypoallergenic (HA), ultrasonic gel, breast milk, feces, and urine. The differences between control and contaminated samples were evaluated for 45 NBS quantities. We estimated if the contaminations might lead to false-positive NBS results.

Results: Eight of nine investigated contaminants significantly altered NBS analyte concentrations and potentially caused false-positive screening outcomes. A contamination with feces was most influential, affecting 24 of 45 tested analytes followed by liquid infant formula (HA) and urine, affecting 19 and 13 of 45 analytes, respectively.

Conclusions: A contamination of filter paper samples can have a substantial effect on the NBS results. Our results underline the importance of good pre-analytical training to make the staff aware of the threat and ensure reliable screening results.

Keywords: contamination; dried blood spots; filter paper; newborn screening.

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References

    1. Therrell BL, Padilla CD, Loeber JG, Kneisser I, Saadallah A, Borrajo GJ, et al. Current status of newborn screening worldwide: 2015. Semin Perinatol 2015;39:171–87.
    1. Guthrie R, Susi A. A simple phenylalanine method for detecting phenylketonuria in large populations of newborn infants. Pediatrics 1963;32:338–43.
    1. George RS, Moat SJ. Effect of dried blood spot quality on newborn screening analyte concentrations and recommendations for minimum acceptance criteria for sample analysis. Clin Chem 2016;62:466–75.
    1. Karaceper MD, Chakraborty P, Coyle D, Wilson K, Kronick JB, Hawken S, et al. The health system impact of false positive newborn screening results for medium-chain acyl-CoA dehydrogenase deficiency: a cohort study. Orphanet J Rare Dis 2016;11:12.
    1. Tarini BA, Clark SJ, Pilli S, Dombkowski KJ, Korzeniewski SJ, Gebremariam A, et al. False-positive newborn screening result and future health care use in a state Medicaid cohort. Pediatrics 2011;128:715–22.