Преконцепционна употреба на фолиева киселина за първична профилактика на редки генетични заболявания

  • Елеонора Христова
  • Георги Искров
  • Румен Стефанов

Резюме

Дефектите на невралната тръба (ДНТ) представляват група тежки вродени аномалии, които са свързани с висока смъртност, неблагоприятна прогноза и дългосрочни увреждания, както и със значителни емоционални, психологически и икономически последствия. Всяка година в ЕС се наблюдават приблизително 5 000 случаи на ДНТ. Повечето от тях се диагностицират пренатално с последващо прекратяване на бременността. Установено е, че преконцепционният прием на фолиева киселина може значително да намали риска за ДНТ. Въпреки това обаче, към днешна дата в европейските страни не съществуват програми и политики за прием на фолиева киселина при жени в репродуктивна възраст или по-специално при тези, които планират бременност.

Настоящата публикация има за цел да представи и анализира новите тенденции при употребата на фолиева киселина като средство за първична профилактика на редки генетични заболявания.

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Дата на публикуване
2019-03-28
Цитиране като
1.
Христова Е, Искров Г, Стефанов Р. Преконцепционна употреба на фолиева киселина за първична профилактика на редки генетични заболявания. Редки болести и лекарства сираци [интернет]. 28Мар2019 [цитиран 16Сеп2019];10(1):20-5. Available from: http://journal.raredis.org/index.php/RBLS/article/view/66
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