medgenМедицинская генетикаMedical Genetics2073-7998Publishing House «Genius Media» LLCmedgen-314Research ArticleНАУЧНЫЕ ОБЗОРЫREVIEWНеинвазивные пренатальные тесты: европейские и американские рекомендации по применению в клинической практикеNon-invasive prenatal tests: european and american recomendationsБарановаЕ. Е.BaranovaE. E.medgen@rmapo.ruБеленикинМ. С.BelenikinM. S.noemail@neicon.ruЖученкоЛ. А.ZhuchenkoL. A.noemail@neicon.ruИжевскаяВ. Л.IzhevskayaV. L.noemail@neicon.ruФГБОУ ДПО РМАНПО Минздрава РоссииРоссияRussian Medical Academy of Continuous Professional EducationRussian FederationФГБОУ ВПО «Московский физико-технический институт (государственный университет)»РоссияMoscow Institute of Physics and Technology (State University)Russian FederationФГБНУ «Медико-генетический научный центр»РоссияResearch Centre for Medical GeneticsRussian Federation201720022018168310Copyright © Баранова Е.Е., Беленикин М.С., Жученко Л.А., Ижевская В.Л., 20182018Баранова Е.Е., Беленикин М.С., Жученко Л.А., Ижевская В.Л.Baranova E.E., Belenikin M.S., Zhuchenko L.A., Izhevskaya V.L.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/314

В обзоре проведен анализ рекомендаций Американского колледжа медицинской генетики и геномики (ACMG) и Европейского и Американского обществ генетики человека по неинвазивному пренатальному тестированию (НИПТ). Сделана попытка оценить НИПТ на хромосомную патологию плода с технологической точки зрения. Обсуждены перспективы расширения областей применения НИПТ в пренатальной диагностике микроделеционных синдромов и моногенной патологии и сопутствующие этические проблемы.

The article reviews the clinical recommendations of American College of Medical Genetics and Genomics (ACMG) and joint ESHG/ASHG position concerning non-invasive prenatal testing (NIPT). An attempt to evaluate the NIPT for the fetal chromosomal pathology from the technological point of view was made. The perspectives for using NIPT in prenatal diagnostics of hereditary diseases and ethical problems associated with NIPT are discussed.

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