medgenМедицинская генетикаMedical Genetics2073-7998Publishing House «Genius Media» LLC10.1234/XXXX-XXXX-2016-7-41-44medgen-152Research ArticleВСЕРОССИЙСКАЯ НАУЧНО-ПРАКТИЧЕСКАЯ КОНФЕРЕНЦИЯ «НОВЫЕ ТЕХНОЛОГИИ ДИАГНОСТИКИ НАСЛЕДСТВЕННЫХ БОЛЕЗНЕЙ», МОСКВА, 28-29 ОКТЯБРЯ 2016 Г.Медико-генетическое консультирование на основе комплексного преконцепционного ДНК-тестирования будущих родителей с целью снижения рисков моногенной патологии детейGenetic counselling by integrated preconception DNA testing expectant parents for reduce the risk of children monogenic diseasesКречмарМ. В.KrechmarM. V.krechmar.mv@mail.ruДиагностический центр (медико-генетический)РоссияDiagnostic Center (Medical Genetics)Russian Federation2016071020161574144Copyright © Кречмар М.В., 20162016Кречмар М.В.Krechmar M.V.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/152

Проведено комплексное полигенное тестирование на этапе планирования беременности для уточнения статуса носителя мутаций тяжелых и частых моногенных заболеваний в группах высокого и низкого риска. Разработан алгоритм обследования - от медико-генетического консультирования до диагностики эмбрионов и плодов. Обосновано применение такого тестирование в области ВРТ для доноров и в группе высокого риска при кровнородственных браках. Комплексное тестирование на носительство мутаций рекомендовано для широкой профилактики и может назначаться всем родителям в качестве действенной меры профилактики рождения детей с тяжелой моногенной патологией.

The complex polygenic testing for pregnancy planning stage to clarify the status of medium heavy and frequent mutations of monogenic diseases in a high and low risk groups. A survey algorithm is from genetic counseling to the diagnosis of embryos and fetuses. The application of this test in the field of assisted reproduction for donors in high-risk patients with consanguineous marriages. Comprehensive testing for mutation carrier is recommended for general prevention and can be assigned to all parents as effective measures of prevention of birth of children with severe monogenic disorders.

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