Gwendolyn Gramer1, Junmin Fang-Hoffmann2, Patrik Feyh2, Glynis Klinke2, Peter Monostori2, Jürgen G Okun2, Georg F Hoffmann2. 1. Division of Neuropediatric and Metabolic Medicine, Department of General Pediatrics, Center for Pediatric and Adolescent Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, 69120, Heidelberg, Germany. gwendolyn.gramer@med.uni-heidelberg.de. 2. Division of Neuropediatric and Metabolic Medicine, Department of General Pediatrics, Center for Pediatric and Adolescent Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, 69120, Heidelberg, Germany.
Abstract
BACKGROUND: Newborn screening (NBS) in Germany currently includes 15 target disorders. Recent diagnostic improvements suggest an extension of the screening panel. METHODS: Since August 2016, a prospective study evaluating 26 additional target disorders (25 metabolic disorders and vitamin B12-deficiency) in addition to the German screening panel is performed at the Newborn Screening Center Heidelberg. First-tier results from tandem-MS screening are complemented by second-tier strategies for 15 of the additional target disorders. NBS results of seven patients diagnosed symptomatically with one of the additional target disorders by selective screening since August 2016 are retrospectively evaluated. RESULTS: Over a 13-month period, 68,418 children participated in the study. Second-tier analyses were performed in 5.4% of samples. Only 59 (0.1%) of study participants had abnormal screening results for one of the additional target disorders. Target disorders from the study panel were confirmed in 12 children: 1 3-hydroxy-3-methylglutaryl coenzyme A (CoA)-lyase deficiency, 1 citrullinemia type I, 1 multiple acyl-CoA dehydrogenase-deficiency, 1 methylenetetrahydrofolate reductase-deficiency, and 8 children with maternal vitamin B12-deficiency. In addition, six of seven patients diagnosed symptomatically outside the study with one of the target disorders would have been identified by the study strategy in their NBS sample. CONCLUSIONS: Within 13 months, the study "Newborn Screening 2020" identified additional 12 children with treatable conditions while only marginally increasing the recall rate by 0.1%. Maternal vitamin B12-deficiency was the most frequent finding. Even more children could benefit from screening for the additional target disorders by extending the NBS panel for Germany and/or other countries.
BACKGROUND: Newborn screening (NBS) in Germany currently includes 15 target disorders. Recent diagnostic improvements suggest an extension of the screening panel. METHODS: Since August 2016, a prospective study evaluating 26 additional target disorders (25 metabolic disorders and vitamin B12-deficiency) in addition to the German screening panel is performed at the Newborn Screening Center Heidelberg. First-tier results from tandem-MS screening are complemented by second-tier strategies for 15 of the additional target disorders. NBS results of seven patients diagnosed symptomatically with one of the additional target disorders by selective screening since August 2016 are retrospectively evaluated. RESULTS: Over a 13-month period, 68,418 children participated in the study. Second-tier analyses were performed in 5.4% of samples. Only 59 (0.1%) of study participants had abnormal screening results for one of the additional target disorders. Target disorders from the study panel were confirmed in 12 children: 1 3-hydroxy-3-methylglutaryl coenzyme A (CoA)-lyase deficiency, 1 citrullinemia type I, 1 multiple acyl-CoA dehydrogenase-deficiency, 1 methylenetetrahydrofolate reductase-deficiency, and 8 children with maternal vitamin B12-deficiency. In addition, six of seven patients diagnosed symptomatically outside the study with one of the target disorders would have been identified by the study strategy in their NBS sample. CONCLUSIONS: Within 13 months, the study "Newborn Screening 2020" identified additional 12 children with treatable conditions while only marginally increasing the recall rate by 0.1%. Maternal vitamin B12-deficiency was the most frequent finding. Even more children could benefit from screening for the additional target disorders by extending the NBS panel for Germany and/or other countries.
Authors: Jürgen G Okun; Hongying Gan-Schreier; Tawfeq Ben-Omran; Kathrin V Schmidt; Junmin Fang-Hoffmann; Gwendolyn Gramer; Ghassan Abdoh; Noora Shahbeck; Hilal Al Rifai; Abdul Latif Al Khal; Gisela Haege; Chuan-Chi Chiang; David C Kasper; Bridget Wilcken; Peter Burgard; Georg F Hoffmann Journal: JIMD Rep Date: 2016-06-21
Authors: Coleman T Turgeon; Mark J Magera; Carla D Cuthbert; Perry R Loken; Dimitar K Gavrilov; Silvia Tortorelli; Kimiyo M Raymond; Devin Oglesbee; Piero Rinaldo; Dietrich Matern Journal: Clin Chem Date: 2010-08-31 Impact factor: 8.327
Authors: Hongying Gan-Schreier; Moustafa Kebbewar; Junmin Fang-Hoffmann; Julia Wilrich; Ghassan Abdoh; Tawfeg Ben-Omran; Noora Shahbek; Abdulbari Bener; Hilal Al Rifai; Abdul Latif Al Khal; Martin Lindner; Johannes Zschocke; Georg F Hoffmann Journal: J Pediatr Date: 2009-11-14 Impact factor: 4.406