Oblygatory DNA-testing stage for improvement of neonatal screening and early diagnostics of cystic fibrosis
https://doi.org/10.25557/2073-7998.2020.07.60-61
Abstract
We present improvement algorithm of newborn screening for cystic fibrosis (CF), in which oblygatory DNA-testing stage among CF-high risk newborns was incorporated alongside with traditional screening design. Such approach make it possible for early and accurate diagnostics of CF among newborns. CF frequency in Tomsk region was 1 in 5882 newborns. Allelic frequencies of the CFTR gene mutation were estimated.
About the Authors
O. N. Odinokova
Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences
Russian Federation
Russian Federation
L. P. Nazarenko
Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences
Russian Federation
Russian Federation
G. N. Seitova
Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences
Russian Federation
Russian Federation
Review
For citations:
Odinokova O.N., Nazarenko L.P., Seitova G.N. Oblygatory DNA-testing stage for improvement of neonatal screening and early diagnostics of cystic fibrosis. Medical Genetics. 2020;19(7):60-61. (In Russ.) https://doi.org/10.25557/2073-7998.2020.07.60-61
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