Biochemical screening of 504,049 newborns in Denmark, the Faroe Islands and Greenland - Experience and development of a routine program for expanded newborn screening

Article ID	Journal	Published Year	Pages	File Type
10833458	Molecular Genetics and Metabolism	2012	13 Pages	PDF

Abstract

âº Expanded newborn screening of IEM in 504.049 Danish newborns. âº Frequency of an IEM after screening was 1:4.942 (1:8330 in the decade before screening). âº 310 positive screening results with 114 true positive (102 newborns, 12 mothers). âº No deaths among the 102 newborns; 94% had no sequelae at last follow-up. âº After screening, frequencies of IEM are increased and outcome improved.

Keywords

MCADD ACMG CAH FPR MADD HHH CIT MMA HPLC-FL UPLC-UV SCADD GALT PKU GCMs PPV MSUD VLCADD CTD TPD PAA GA1 UAA DNA MS/MS UPLC-MS/MS positive predictive value Arg Plasma amino acids IEM Metabolic disease Congenital toxoplasmosis Inborn error of metabolism Tandem mass spectrometry ultra performance liquid chromatography tandem mass spectrometry Expanded newborn screening Neonatal screening not applicable IVA true positive false positive false negative False positive rate enz arbitrary units American College of Medical Genetics and Genomics gas chromatography/mass spectrometry congenital hypothyroidism

Related Topics

Life Sciences Biochemistry, Genetics and Molecular Biology Biochemistry

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Biochemical screening of 504,049 newborns in Denmark, the Faroe Islands and Greenland - Experience and development of a routine program for expanded newborn screening

Authors

Allan Meldgaard Lund, David Michael Hougaard, Henrik Simonsen, Brage Storstein Andresen, Mette Christensen, Morten DunÃ¸, Kristin Skogstrand, Rikke K.J. Olsen, Ulrich Glümer Jensen, Arieh Cohen, Nanna Larsen, Peter Saugmann-Jensen, Niels Gregersen,