medgenМедицинская генетикаMedical Genetics2073-7998Publishing House «Genius Media» LLCmedgen-330Research ArticleОРИГИНАЛЬНЫЕ ИССЛЕДОВАНИЯORIGINAL RESEARCH10 лет неонатальному скринингу в Республике Казахстан: итоги и перспективы10 years of neonatal screening in the Republican of Kazakhstan: results and prospectsСвятоваГ. С.SvyatovaG. S.respmgk@mail.ruСалимбаеваД. Н.SalimbaevaD. N.noemail@neicon.ruКирикбаеваМ. С.KirikbaevaM. S.noemail@neicon.ruБерезинаГ. М.BerezinaG. M.noemail@neicon.ru«Научный центр акушерства, гинекологии и перинатологии» Министерства Здравоохранения Республики КазахстанРоссияScientific Center of Obstetrics, Gynecology and PerinatologyRussian Federation20172002201816101417Copyright © Святова Г.С., Салимбаева Д.Н., Кирикбаева М.С., Березина Г.М., 20182018Святова Г.С., Салимбаева Д.Н., Кирикбаева М.С., Березина Г.М.Svyatova G.S., Salimbaeva D.N., Kirikbaeva M.S., Berezina G.M.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.medgen-journal.ru/jour/article/view/330

По данным массового неонатального скрининга в РК за период 2007 г. - 1 полугодие 2017 г. проскринировано 2 520 053 новорожденных. Средний охват новорожденных за время внедрения неонатального скрининга в РК с 2011 года составил 73,1%, средний охват варьирует в отдельных регионах РК. С 2007 года в программе неонатального скрининга выявлено 105 детей с фенилкетонурией и 336 с врожденным гипотиреозом. Отмечены региональные особенности частоты встречаемости ФКУ и ВГ, что, возможно, определяется популяционными особенностями, в частности этническим составом, и варьированием охвата неонатальным скринингом регионов.

According to neonatal screening in the Republic of Kazakhstan for the period since 2007 year to 1 half of 2017 year 2520053 newborns were screened. The middle coverage of neonatal screening in the Republic of Kazakhstan since 2011 year was 73.1%, the middle coverage varies in different regions of the Republic of Kazakhstan. Since 2007year 105 children with phenylketonuria and 336 with congenital hypothyroidism have been identified in the neonatal screening program. The regional features of the frequency of PKU and CH are noted, which can be determined by population characteristics, in particular by ethnic composition, and by the variation in coverage by neonatal screening of regions.

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The authors declare that there are no conflicts of interest present.