Международный опыт первичной профилактики муковисцидоза (часть вторая)

Представленный текст является продолжением обзора международных исследований и руководств/рекомендаций в области первичной профилактики муковисцидоза (МВ). В этом разделе рассматриваются вопросы выбора патогенных вариантов для различных программ скрининга носительства МВ мутаций для формирования панелей, с учетом географических и этнических особенностей пар, проходящих скрининг, описываются особенности наблюдения за парами с промежуточным риском носительства, представлены взаимосвязи между скринингом на носительство и неонатальным скринингом, освещена важность своевременного информирования, включая медико-генетическое консультирование заинтересованных сторон, с учетом психосоциального статуса носителей. Отдельно представлены работы, выявившие снижение частоты рождения больных МВ во Франции, Италии и Израиле после внедрения скрининга на носительство МВ.

муковисцидоз, преконцепционный скрининг носительства, тестирование на носительство, популяционный, обзор литературы

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