Comparison of Newborn Screening Protocols for Congenital Adrenal Hyperplasia in Preterm Infants - 16/04/14
Abstract |
Objective |
To compare 2 screening protocols performed concurrently in Minnesota: (1) liquid chromatography tandem mass spectrometry steroid profiling as a second-tier test on positive fluoroimmunoassay (FIA) results; and (2) low-birthweight 3-screen protocol (FIA tests at <48 hours, 2 weeks, 4 weeks) on all infants <1800 g, regardless of result.
Study design |
Population-based study of all <1800 g infants (n = 8739) born in Minnesota from 2004-2010 comparing newborn screening performance metrics of 2-tier (FIA + liquid chromatography tandem mass spectrometry) protocol (2004-2010) vs 1-tier (FIA) low-birthweight 3-screen protocol (2006-2010). False positive (FP) rates were calculated per infant's final confirmatory result. Protocol results used in different time periods (2004-2005 vs 2006-2010) were compared by 2-sample tests of proportions; results of both protocols for 2006-2010 were compared by McNemar test.
Results |
First-tier testing of final dried blood spot result (n = 6625) of the low-birthweight 3-screen protocol during 2006-2010 reduced the FP rate more than 5-fold (P < .0001) compared with 2-tier testing of a single dried blood spot (n = 2114) from 2004-2005. In comparing results (n = 6625) of both protocols from 2006-2010, first-tier testing of final dried blood spot accounted for 23% of FPs; second-tier testing of the first dried blood spot accounted for 77%, yielding significantly more FP results (McNemar test, P < .0001).
Conclusion |
Timing of dried blood spot collection rather than assay used played a more important role in reducing FP results of congenital adrenal hyperplasia newborn screening in low birthweight infants.
Le texte complet de cet article est disponible en PDF.Keyword : 17OHP, CAH, FIA, FN, FP, FPR, LC-MS/MS, NBS, NICU, PPV, TP
Plan
The authors declare no conflicts of interest. |
Vol 164 - N° 5
P. 1136-1140 - mai 2014 Retour au numéroBienvenue sur EM-consulte, la référence des professionnels de santé.
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