Вроджені вади серця серед новонароджених дітей: генетичні аспекти
Анотація
Вроджені вади серця (ВВС) – це гетерогенна група захворювань, які трапляються ізольовано або входять до складу множинних вроджених вад розвитку (МВВР), моногенних синдромів або хромосомних патологій. Причиною від 6 до 36% випадків ВВС є хромосомна патологія та зумовлені нею синдроми. Моногенна етіологія доведена у близько 8% випадків, а основна частка – близько 90% ВВС є результатом несприятливого поєднання генетичної схильності та дії зовнішніх чинників. Серед причин ранньої неонатальної дитячої смертності домінують несумісні з життям природжені вади розвитку: практично 26% випадків перинатальної і неонатальної смертності пов’язують з природженою патологією дитини. Вади серця складають 30% серед усіх вроджених вад. Вони займають перше місце серед захворювань, що призводять до перинатальної смертності та ранньої інвалідизації населення. Світова статистика показує, що частота вроджених вад серця у світі складає 9 на 1000 новонароджених, в Європі- 8/1000, що в 4 рази частіше, ніж дефекти невральної трубки та в 6 разів вище ніж хромосомні аномалії. В Україні щороку народжується близько 5 тисяч дітей з ВВС, а загальна кількість тих дітей, що стоять на диспансерному обліку, сягає понад 45000 осіб. Знання про поширеність вроджених вад серця в регіоні необхідні для розробки нових інформативних маркерів ризику вродженої патології системи кровообігу для жінок репродуктивного віку. Дані про частоту вродженої патології серця у вагітних жінок та новонароджених дітей в регіоні дозволять сформувати базу даних для наступних досліджень, що сприятиме своєчасному виявленню вагітних жінок групи ризику. Це дозволить покращити прогноз вагітності, знизити рівень перинатальної патології, що буде мати вагомий медико-соціальний ефект. Отримані дані дозволять створити передумови для удосконалення підходів до визначення груп ризику перинатальної патології, вдосконаленню спеціалізованої допомоги вагітним з ризиком вродженою патології серця у плода.
Завантаження
Посилання
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