Introduction of Universal Newborn Screening for Sickle Cell Disease in Germany—A Brief Narrative Review
Funding
Acknowledgments
Conflicts of Interest
Abbreviations
CE | capillary electrophoresis |
HPFH | hereditary persistence of fetal hemoglobin |
HPLC | high performance liquid chromatography |
MS/MS | tandem mass spectrometry |
References
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Country | Level | Coverage | Birth Prevalence |
---|---|---|---|
Belgium | regional * (Brussels & Liège) | universal | 1:2300 |
France | national | targeted in metropolitan France and universal in overseas territories | 1:1800 |
Germany | national | universal | 1:5000–1:7500 (est.) |
Ireland | national * | targeted | 10–15 cases p.a. |
Malta | national | universal | no case in 2017 |
Netherlands | national | universal | 1:5800 |
Spain | national | universal | 1:8300 |
United Kingdom | national | universal | 1:2200 |
Berlin I | Hamburg | Heidelberg | Berlin II | |
---|---|---|---|---|
mode | universal | universal | universal | universal |
n | 34,084 | 17,018 | 37,838 | 29,079 |
first tier method | HPLC | HPLC | TaqMan assay | MS/MS |
second tier method | CE | Hybridization assay | Sanger sequencing | CE |
carriers | 165 | 98 | 91 | 134 |
diagnosed | 14 | 8 | 3 | 7 |
genotypes | 9 × SCD-S/S 1 × SCD-S/β thal. 4 × SCD-S/C | 3 × SCD-S/S 5 × SCD-S/C | 3 × SCD-S/β thal. | 4 × SCD-S/S 2 × SCD-S/C 1 × SCD-S/HPFH |
calculated local birth prevalence | 1:2435 | 1:2127 | 1:12,613 | 1:4154 |
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Lobitz, S.; Kunz, J.B.; Cario, H.; Hakimeh, D.; Jarisch, A.; Kulozik, A.E.; Oevermann, L.; Grosse, R. Introduction of Universal Newborn Screening for Sickle Cell Disease in Germany—A Brief Narrative Review. Int. J. Neonatal Screen. 2021, 7, 7. https://doi.org/10.3390/ijns7010007
Lobitz S, Kunz JB, Cario H, Hakimeh D, Jarisch A, Kulozik AE, Oevermann L, Grosse R. Introduction of Universal Newborn Screening for Sickle Cell Disease in Germany—A Brief Narrative Review. International Journal of Neonatal Screening. 2021; 7(1):7. https://doi.org/10.3390/ijns7010007
Chicago/Turabian StyleLobitz, Stephan, Joachim B. Kunz, Holger Cario, Dani Hakimeh, Andrea Jarisch, Andreas E. Kulozik, Lena Oevermann, and Regine Grosse. 2021. "Introduction of Universal Newborn Screening for Sickle Cell Disease in Germany—A Brief Narrative Review" International Journal of Neonatal Screening 7, no. 1: 7. https://doi.org/10.3390/ijns7010007