NEONATAL SCREENING AND GENETIC DIAGNOSTICS OF MUCOVISCIDOSIS IN KMAD-UGRA
Abstract
The research objective was the assessment of efficiency of neonatal screening and gene diagnostics of mucoviscidosis (MV) in Khanty-Mansi Autonomous District-Yugra from 2006 for 2014. Average annual level newborns who had performed screening-test made 95,5%, the frequency of MV - 1 case on 9095 newborns. Sensitivity of method made 100%, specificity - 99,7%. Increase of number of false positive results of test correlated with decrease of the recommended threshold level of immunoreactive Trypsinum that defines the need of development of its regional reference sizes. Results of gene diagnostics of patients with MV showed prevalence of delF508 mutation in homozygous, heterozygotic state or in a compound in 73,9% cases.
About the Authors
M. Y. Donnikov
SE KMAD - Yugra «Regional cardiologic dispensary „Center of diagnostics and cardiovascular surgery“»
Russian Federation
Russian Federation
L. N. Kolbasin
SE KMAD - Yugra «Regional cardiologic dispensary „Center of diagnostics and cardiovascular surgery“»
Russian Federation
Russian Federation
I. A. Urvantseva
SE KMAD - Yugra «Regional cardiologic dispensary „Center of diagnostics and cardiovascular surgery“»; SBEI HPE «Surgut State University of KMAD - Yugra»
Russian Federation
Russian Federation
V. V. Meshcheryakov
SBEI HPE «Surgut State University of KMAD - Yugra»
Russian Federation
Russian Federation
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Review
For citations:
Donnikov M.Y., Kolbasin L.N., Urvantseva I.A., Meshcheryakov V.V. NEONATAL SCREENING AND GENETIC DIAGNOSTICS OF MUCOVISCIDOSIS IN KMAD-UGRA. Journal of Siberian Medical Sciences. 2015;(3):66.
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