N. Yu. Kashirskaya, N. V. Petrova, T. E. Gembitskaya, T. E. Ivashchenko, A. I. Khavkin, O. N. Nesteruk, E. K. Ginter, S. I. Kutsev, R. A. Zinchenko
{"title":"囊性纤维化一级预防的国际经验(上)","authors":"N. Yu. Kashirskaya, N. V. Petrova, T. E. Gembitskaya, T. E. Ivashchenko, A. I. Khavkin, O. N. Nesteruk, E. K. Ginter, S. I. Kutsev, R. A. Zinchenko","doi":"10.31146/1682-8658-ecg-204-8-150-159","DOIUrl":null,"url":null,"abstract":"Preconceptional genetic screening (genetic testing of individuals at the stages of family planning and birth of a healthy child) has an important place in the prevention of hereditary diseases. This review focuses on the preconceptional prevention of cystic fibrosis (CF), one of the most common hereditary diseases of the Caucasian race. The first part highlights the general principles of screening for hereditary diseases, including CF, the advantages and disadvantages of pan-ethnic screening for CF, and the economic rationale for the programme, using international studies and guidelines, as illustrated by international sources.","PeriodicalId":11555,"journal":{"name":"Eksperimental'naia i klinicheskaia gastroenterologiia = Experimental & clinical gastroenterology","volume":null,"pages":null},"PeriodicalIF":0.0000,"publicationDate":"2023-01-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"1","resultStr":"{\"title\":\"International experience in the primary prevention of cystic fibrosis (part one)\",\"authors\":\"N. Yu. Kashirskaya, N. V. Petrova, T. E. Gembitskaya, T. E. Ivashchenko, A. I. Khavkin, O. N. Nesteruk, E. K. Ginter, S. I. Kutsev, R. A. Zinchenko\",\"doi\":\"10.31146/1682-8658-ecg-204-8-150-159\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Preconceptional genetic screening (genetic testing of individuals at the stages of family planning and birth of a healthy child) has an important place in the prevention of hereditary diseases. This review focuses on the preconceptional prevention of cystic fibrosis (CF), one of the most common hereditary diseases of the Caucasian race. The first part highlights the general principles of screening for hereditary diseases, including CF, the advantages and disadvantages of pan-ethnic screening for CF, and the economic rationale for the programme, using international studies and guidelines, as illustrated by international sources.\",\"PeriodicalId\":11555,\"journal\":{\"name\":\"Eksperimental'naia i klinicheskaia gastroenterologiia = Experimental & clinical gastroenterology\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2023-01-18\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"1\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Eksperimental'naia i klinicheskaia gastroenterologiia = Experimental & clinical gastroenterology\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.31146/1682-8658-ecg-204-8-150-159\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Eksperimental'naia i klinicheskaia gastroenterologiia = Experimental & clinical gastroenterology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.31146/1682-8658-ecg-204-8-150-159","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
International experience in the primary prevention of cystic fibrosis (part one)
Preconceptional genetic screening (genetic testing of individuals at the stages of family planning and birth of a healthy child) has an important place in the prevention of hereditary diseases. This review focuses on the preconceptional prevention of cystic fibrosis (CF), one of the most common hereditary diseases of the Caucasian race. The first part highlights the general principles of screening for hereditary diseases, including CF, the advantages and disadvantages of pan-ethnic screening for CF, and the economic rationale for the programme, using international studies and guidelines, as illustrated by international sources.