Вроджені вади серця серед новонароджених дітей: генетичні аспекти

  • Yevgenia Shargorodska молодший науковий співробітник, дисертант відділення клінічної генетики ДУ «Інститут спадкової патології НАМН України» https://orcid.org/0000-0003-0240-4765
Ключові слова: вроджені вади серця, новонароджені діти

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

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Біографія автора

Yevgenia Shargorodska, молодший науковий співробітник, дисертант відділення клінічної генетики ДУ «Інститут спадкової патології НАМН України»

м. Львів, Україна, 79008, вул. Лисенко, 31а

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Опубліковано
2019-10-01
Як цитувати
Shargorodska, Y. (2019). Вроджені вади серця серед новонароджених дітей: генетичні аспекти. Вісник Харківського національного університету імені В. Н. Каразіна. Серія «Медицина», (38). https://doi.org/10.26565/2313-6693-2019-38-10