Collaborative evaluation study on 18 candidate diseases for newborn screening in 1.77 million samples.
Germany
dried blood spot
evaluation study
inborn errors of metabolism
newborn screening
public health
tandem mass spectrometry
Journal
Journal of inherited metabolic disease
ISSN: 1573-2665
Titre abrégé: J Inherit Metab Dis
Pays: United States
ID NLM: 7910918
Informations de publication
Date de publication:
11 2023
11 2023
Historique:
revised:
16
08
2023
received:
06
05
2023
accepted:
17
08
2023
medline:
14
11
2023
pubmed:
21
8
2023
entrez:
21
8
2023
Statut:
ppublish
Résumé
Analytical and therapeutic innovations led to a continuous but variable extension of newborn screening (NBS) programmes worldwide. Every extension requires a careful evaluation of feasibility, diagnostic (process) quality and possible health benefits to balance benefits and limitations. The aim of this study was to evaluate the suitability of 18 candidate diseases for inclusion in NBS programmes. Utilising tandem mass spectrometry as well as establishing specific diagnostic pathways with second-tier analyses, three German NBS centres designed and conducted an evaluation study for 18 candidate diseases, all of them inherited metabolic diseases. In total, 1 777 264 NBS samples were analysed. Overall, 441 positive NBS results were reported resulting in 68 confirmed diagnoses, 373 false-positive cases and an estimated cumulative prevalence of approximately 1 in 26 000 newborns. The positive predictive value ranged from 0.07 (carnitine transporter defect) to 0.67 (HMG-CoA lyase deficiency). Three individuals were missed and 14 individuals (21%) developed symptoms before the positive NBS results were reported. The majority of tested candidate diseases were found to be suitable for inclusion in NBS programmes, while multiple acyl-CoA dehydrogenase deficiency, isolated methylmalonic acidurias, propionic acidemia and malonyl-CoA decarboxylase deficiency showed some and carnitine transporter defect significant limitations. Evaluation studies are an important tool to assess the potential benefits and limitations of expanding NBS programmes to new diseases.
Substances chimiques
Carnitine
S7UI8SM58A
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
1043-1062Informations de copyright
© 2023 The Authors. Journal of Inherited Metabolic Disease published by John Wiley & Sons Ltd on behalf of SSIEM.
Références
Gray JA, Patnick J, Blanks RG. Maximising benefit and minimising harm of screening. BMJ. 2008;336:480-483.
Mütze U, Garbade SF, Gramer G, et al. Long-term outcomes of individuals with metabolic diseases identified through newborn screening. Pediatrics. 2020;146.
Mütze U, Henze L, Gleich F, et al. Newborn screening and disease variants predict neurological outcome in isovaleric aciduria. J Inherit Metab Dis. 2021;44:857-870.
Wilson JMG, Jungner G. Principles and Practice of Screening for Disease. World Health Organisation; 1968:34.
Sikonja J, Groselj U, Scarpa M, et al. Towards achieving equity and innovation in newborn screening across Europe. Int J Neonatal Screen. 2022;8:31-42.
Group ACoMGNSE. Newborn screening: toward a uniform screening panel and system-executive summary. Pediatrics. 2006;117(5 Pt 2):296-307.
Fabie NA, Pappas KB, Feldman GL. The current state of newborn screening in the United States. Pediatr Clin North Am. 2019;66:369-386.
Loeber JG, Platis D, Zetterstrom RH, et al. Neonatal screening in Europe revisited: an ISNS perspective on the current state and developments since 2010. Int J Neonatal Screen. 2021;7:15.
Gemeinsamer BA. Kinder-Richtlinien zur Einführung des erweiterten Neugeborenen-Screenings. Bundesministerium für Gesundheit und Soziale Sicherung. 2004;60:4833.
Dunigan DD, Waters SB, Owen TC. Aqueous soluble tetrazolium/formazan MTS as an indicator of NADH- and NADPH-dependent dehydrogenase activity. Biotechniques. 1995;19:640-649.
Yamaguchi A, Fukushi M, Mizushima Y, et al. Microassay for screening newborns for galactosemia with use of a fluorometric microplate reader. Clin Chem. 1989;35:1962-1964.
Fingerhut R, Röschinger W, Muntau AC, et al. Hepatic carnitine palmitoyltransferase I deficiency: acylcarnitine profiles in blood spots are highly specific. Clin Chem. 2001;47:1763-1768.
Millington DS, Kodo N, Norwood DL, Roe CR. Tandem mass spectrometry: a new method for acylcarnitine profiling with potential for neonatal screening for inborn errors of metabolism. J Inherit Metab Dis. 1990;13:321-324.
Chace DH, Hillman SL, Van Hove JL, Naylor EW. Rapid diagnosis of MCAD deficiency: quantitative analysis of octanoylcarnitine and other acylcarnitines in newborn blood spots by tandem mass spectrometry. Clin Chem. 1997;43:2106-2113.
la Marca G, Malvagia S, Pasquini E, Innocenti M, Donati MA, Zammarchi E. Rapid 2nd-tier test for measurement of 3-OH-propionic and methylmalonic acids on dried blood spots: reducing the false-positive rate for propionylcarnitine during expanded newborn screening by liquid chromatography-tandem mass spectrometry. Clin Chem. 2007;53:1364-1369.
Monostori P, Klinke G, Richter S, et al. Simultaneous determination of 3-hydroxypropionic acid, methylmalonic acid and methylcitric acid in dried blood spots: second-tier LC-MS/MS assay for newborn screening of propionic acidemia, methylmalonic acidemias and combined remethylation disorders. PloS One. 2017;12:e0184897.
Gan-Schreier H, Kebbewar M, Fang-Hoffmann J, et al. Newborn population screening for classic homocystinuria by determination of total homocysteine from Guthrie cards. J Pediatr. 2010;156:427-432.
Turgeon CT, Magera MJ, Cuthbert CD, et al. Determination of total homocysteine, methylmalonic acid, and 2-methylcitric acid in dried blood spots by tandem mass spectrometry. Clin Chem. 2010;56:1686-1695.
Röschinger W, Sonnenschein S, Schuhmann E, Nennstiel-Ratzel U, Roscher AA, Olgemöller B. New target diseases in newborn screening. Recommenations derived from a pilot study. Monatsschr Kinderheilkd. 2015;163:142-149.
Weiss KJ, Röschinger W, Blessing H, Lotz-Havla AS, Schiergens KA, Maier EM. Diagnostic challenges using a 2-tier strategy for methylmalonic acidurias: data from 1.2 million dried blood spots. Ann Nutr Metab. 2020;76:268-276.
Gramer G, Fang-Hoffmann J, Feyh P, et al. Newborn screening for vitamin B(12) deficiency in Germany-strategies, results, and public health implications. J Pediatr. 2020;216:165-172.
Mütze U, Walter M, Keller M, et al. Health outcomes of infants with vitamin B(12) deficiency identified by newborn screening and early treated. J Pediatr. 2021;235:42-48.
Gramer G, Fang-Hoffmann J, Feyh P, et al. High incidence of maternal vitamin B(12) deficiency detected by newborn screening: first results from a study for the evaluation of 26 additional target disorders for the German newborn screening panel. World J Pediatr. 2018;14:470-481.
Hoffmann G, Aramaki S, Blum-Hoffmann E, Nyhan WL, Sweetman L. Quantitative analysis for organic acids in biological samples: batch isolation followed by gas chromatographic-mass spectrometric analysis. Clin Chem. 1989;35:587-595.
Kawana S, Nakagawa K, Hasegawa Y, Kobayashi H, Yamaguchi S. Improvement of sample throughput using fast gas chromatography mass-spectrometry for biochemical diagnosis of organic acid disorders. Clin Chim Acta. 2008;392:34-40.
Schiergens KA, Weiss KJ, Röschinger W, et al. Newborn screening for carnitine transporter defect in Bavaria and the long-term follow-up of the identified newborns and mothers: assessing the benefit and possible harm based on 19 ½ years of experience. Mol Genet Metab Rep. 2021;28:100776.
Wilson C, Knoll D, de Hora M, Kyle C, Glamuzina E, Webster D. The decision to discontinue screening for carnitine uptake disorder in New Zealand. J Inherit Metab Dis. 2019;42:86-92.
Gallant NM, Leydiker K, Wilnai Y, et al. Biochemical characteristics of newborns with carnitine transporter defect identified by newborn screening in California. Mol Genet Metab. 2017;122:76-84.
Lee NC, Tang NL, Chien YH, et al. Diagnoses of newborns and mothers with carnitine uptake defects through newborn screening. Mol Genet Metab. 2010;100:46-50.
Lin Y, Xu H, Zhou D, et al. Screening 3.4 million newborns for primary carnitine deficiency in Zhejiang Province, China. Clin Chim Acta. 2020;507:199-204.
Crefcoeur LL, Visser G, Ferdinandusse S, Wijburg FA, Langeveld M, Sjouke B. Clinical characteristics of primary carnitine deficiency: a structured review using a case-by-case approach. J Inherit Metab Dis. 2022;45:386-405.
Rose EC, di San Filippo CA, Ndukwe Erlingsson UC, Ardon O, Pasquali M, Longo N. Genotype-phenotype correlation in primary carnitine deficiency. Hum Mutat. 2012;33:118-123.
Ferdinandusse S, Te Brinke H, Ruiter JPN, et al. A mutation creating an upstream translation initiation codon in SLC22A5 5'UTR is a frequent cause of primary carnitine deficiency. Hum Mutat. 2019;40:1899-1904.
Frigeni M, Balakrishnan B, Yin X, et al. Functional and molecular studies in primary carnitine deficiency. Hum Mutat. 2017;38:1684-1699.
Lefèvre CR, Labarthe F, Dufour D, et al. Newborn screening of primary carnitine deficiency: an overview of worldwide practices and pitfalls to define an algorithm before expansion of newborn screening in France. Int J Neonatal Screen. 2023;9:9.
Posset R, Kolker S, Gleich F, et al. Severity-adjusted evaluation of newborn screening on the metabolic disease course in individuals with cytosolic urea cycle disorders. Mol Genet Metab. 2020;131:390-397.
Posset R, Gropman AL, Nagamani SCS, et al. Impact of diagnosis and therapy on cognitive function in urea cycle disorders. Ann Neurol. 2019;86:116-128.
Siri B, Olivieri G, Angeloni A, et al. The diagnostic challenge of mild citrulline elevation at newborn screening. Mol Genet Metab. 2022;135:327-332.
Zielonka M, Kolker S, Gleich F, et al. Early prediction of phenotypic severity in citrullinemia type 1. Ann Clin Transl Neurol. 2019;6:1858-1871.
Stroek K, Bouva MJ, Schielen P, et al. Recommendations for newborn screening for galactokinase deficiency: a systematic review and evaluation of Dutch newborn screening data. Mol Genet Metab. 2018;124:50-56.
Hennermann JB, Schadewaldt P, Vetter B, Shin YS, Monch E, Klein J. Features and outcome of galactokinase deficiency in children diagnosed by newborn screening. J Inherit Metab Dis. 2011;34:399-407.
Kikuchi A, Wada Y, Ohura T, Kure S. The discovery of GALM deficiency (type IV galactosemia) and newborn screening system for galactosemia in Japan. Int J Neonatal Screen. 2021;7:7.
Pasquali M, Yu C, Coffee B. Laboratory diagnosis of galactosemia: a technical standard and guideline of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2018;20:3-11.
Grunert SC, Sass JO. 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: one disease-many faces. Orphanet J Rare Dis. 2020;15:48.
Grunert SC. Clinical and genetical heterogeneity of late-onset multiple acyl-coenzyme A dehydrogenase deficiency. Orphanet J Rare Dis. 2014;9:117.
Gramer G, Hoffmann GF, Hennermann JB. Maternal vitamin deficiency mimicking multiple acyl-CoA dehydrogenase deficiency on newborn screening. Mol Genet Metab Rep. 2021;27:100738.
Hagemeijer MC, Oussoren E, Ruijter GJG, et al. Abnormal VLCADD newborn screening resembling MADD in four neonates with decreased riboflavin levels and VLCAD activity. JIMD Rep. 2021;61:12-18.
Morris AM, Spiekerkoetter U. Disorders of mitochondrial fatty acid oxidation and related metabolic pathways. In: Saudubray J-M, van den Berghe G, Walter H, eds. Inborn Metabolic Diseases. Springer; 2012:203-216.
Saggerson D. Malonyl-CoA, a key signaling molecule in mammalian cells. Annu Rev Nutr. 2008;28:253-272.
Bennett MJ, Harthcock PA, Boriack RL, Cohen JC. Impaired mitochondrial fatty acid oxidative flux in fibroblasts from a patient with malonyl-CoA decarboxylase deficiency. Mol Genet Metab. 2001;73:276-279.
Santer R, Fingerhut R, Lassker U, et al. Tandem mass spectrometric determination of malonylcarnitine: diagnosis and neonatal screening of malonyl-CoA decarboxylase deficiency. Clin Chem. 2003;49:660-662.
Chapel-Crespo C, Gavrilov D, Sowa M, et al. Clinical, biochemical and molecular characteristics of malonyl-CoA decarboxylase deficiency and long-term follow-up of nine patients. Mol Genet Metab. 2019;128:113-121.
Salomons GS, Jakobs C, Pope LL, et al. Clinical, enzymatic and molecular characterization of nine new patients with malonyl-coenzyme A decarboxylase deficiency. J Inherit Metab Dis. 2007;30:23-28.
Baertling F, Mayatepek E, Thimm E, et al. Malonic aciduria: long-term follow-up of new patients detected by newborn screening. Eur J Pediatr. 2014;173:1719-1722.
Chakrapani A, Stojanovic J, Vara R, De Nictolis F, Spada M, Dionisi-Vici C. Safety, efficacy, and timing of transplantation(s) in propionic and methylmalonic aciduria. J Inherit Metab Dis. 2023;46:466-481.
Molema F, Martinelli D, Horster F, et al. Liver and/or kidney transplantation in amino and organic acid-related inborn errors of metabolism: an overview on European data. J Inherit Metab Dis. 2021;44:593-605.
Martinelli D, Catesini G, Greco B, et al. Neurologic outcome following liver transplantation for methylmalonic aciduria. J Inherit Metab Dis. 2023;46:450-465.
Grunert SC, Mullerleile S, de Silva L, et al. Propionic acidemia: neonatal versus selective metabolic screening. J Inherit Metab Dis. 2012;35:41-49.
Dionisi-Vici C, Deodato F, Röschinger W, Rhead W, Wilcken B. 'Classical' organic acidurias, propionic aciduria, methylmalonic aciduria and isovaleric aciduria: long-term outcome and effects of expanded newborn screening using tandem mass spectrometry. J Inherit Metab Dis. 2006;29:383-389.
Heringer J, Valayannopoulos V, Lund AM, et al. Impact of age at onset and newborn screening on outcome in organic acidurias. J Inherit Metab Dis. 2016;39:341-353.
Haijes HA, Molema F, Langeveld M, et al. Retrospective evaluation of the Dutch pre-newborn screening cohort for propionic acidemia and isolated methylmalonic acidemia: what to aim, expect, and evaluate from newborn screening? J Inherit Metab Dis. 2020;43:424-437.
Held PK, Singh E, Scott Schwoerer J. Screening for methylmalonic and propionic acidemia: clinical outcomes and follow-up recommendations. Int J Neonatal Screen. 2022;8:13.
Reischl-Hajiabadi AT, Garbade SF, Feyh P, et al. Maternal vitamin B(12) deficiency detected by newborn screening-evaluation of causes and characteristics. Nutrients. 2022;14:3767.
Pajares S, Arranz JA, Ormazabal A, et al. Implementation of second-tier tests in newborn screening for the detection of vitamin B(12) related acquired and genetic disorders: results on 258,637 newborns. Orphanet J Rare Dis. 2021;16:195.
Huemer M, Diodato D, Schwahn B, et al. Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency. J Inherit Metab Dis. 2017;40:21-48.
Ricci D, Martinelli D, Ferrantini G, et al. Early neurodevelopmental characterization in children with cobalamin C/defect. J Inherit Metab Dis. 2020;43:367-374.
Yverneau M, Leroux S, Imbard A, et al. Influence of early identification and therapy on long-term outcomes in early-onset MTHFR deficiency. J Inherit Metab Dis. 2022;45:848-861.
Huemer M, Diodato D, Martinelli D, et al. Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: data from the E-HOD registry. J Inherit Metab Dis. 2019;42:333-352.
Keller R, Chrastina P, Pavlikova M, et al. Newborn screening for homocystinurias: recent recommendations versus current practice. J Inherit Metab Dis. 2019;42:128-139.
Diekman EF, de Koning TJ, Verhoeven-Duif NM, Rovers MM, van Hasselt PM. Survival and psychomotor development with early betaine treatment in patients with severe methylenetetrahydrofolate reductase deficiency. JAMA Neurol. 2014;71:188-194.