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{"title":"机会之窗:筛查GCK单基因糖尿病在产前糖尿病诊所","authors":"Aarthi Surendran, A. Brackenridge, S. White","doi":"10.1002/pdi.2427","DOIUrl":null,"url":null,"abstract":"Monogenic diabetes (MODY) is a rare, inherited form of diabetes, of which glucokinase (GCK) mutation is one of the most common forms. Correct diagnosis is important, particularly during pregnancy, as treatment should be tailored accordingly. In our antenatal diabetes clinic, we audited those eligible for genetic screening over a one‐year period as per European Best Practice guidelines (2008) and new NHS England criteria (2021), as well as those identified with the mutation. Our audit recorded a significant drop in the number of eligible women identified using new criteria (2.6% vs 5.2%), with a notable reduction in women of African ethnicity (15.2% vs 29.2%). The audit highlighted the need for increased health care professional awareness and the implementation of clear pathways within the antenatal diabetes service to facilitate identification of women for genetic screening and subsequent appropriate management. It also underlined the importance of ongoing assessment of the clinical performance of the new screening criteria. Copyright © 2022 John Wiley & Sons.","PeriodicalId":20309,"journal":{"name":"Practical Diabetes","volume":"29 3","pages":""},"PeriodicalIF":0.5000,"publicationDate":"2022-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Window of opportunity: screening for GCK monogenic diabetes in the antenatal diabetes clinic\",\"authors\":\"Aarthi Surendran, A. Brackenridge, S. White\",\"doi\":\"10.1002/pdi.2427\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Monogenic diabetes (MODY) is a rare, inherited form of diabetes, of which glucokinase (GCK) mutation is one of the most common forms. Correct diagnosis is important, particularly during pregnancy, as treatment should be tailored accordingly. In our antenatal diabetes clinic, we audited those eligible for genetic screening over a one‐year period as per European Best Practice guidelines (2008) and new NHS England criteria (2021), as well as those identified with the mutation. Our audit recorded a significant drop in the number of eligible women identified using new criteria (2.6% vs 5.2%), with a notable reduction in women of African ethnicity (15.2% vs 29.2%). The audit highlighted the need for increased health care professional awareness and the implementation of clear pathways within the antenatal diabetes service to facilitate identification of women for genetic screening and subsequent appropriate management. It also underlined the importance of ongoing assessment of the clinical performance of the new screening criteria. Copyright © 2022 John Wiley & Sons.\",\"PeriodicalId\":20309,\"journal\":{\"name\":\"Practical Diabetes\",\"volume\":\"29 3\",\"pages\":\"\"},\"PeriodicalIF\":0.5000,\"publicationDate\":\"2022-11-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Practical Diabetes\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1002/pdi.2427\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q4\",\"JCRName\":\"ENDOCRINOLOGY & METABOLISM\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Practical Diabetes","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1002/pdi.2427","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"ENDOCRINOLOGY & METABOLISM","Score":null,"Total":0}
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Window of opportunity: screening for GCK monogenic diabetes in the antenatal diabetes clinic
Monogenic diabetes (MODY) is a rare, inherited form of diabetes, of which glucokinase (GCK) mutation is one of the most common forms. Correct diagnosis is important, particularly during pregnancy, as treatment should be tailored accordingly. In our antenatal diabetes clinic, we audited those eligible for genetic screening over a one‐year period as per European Best Practice guidelines (2008) and new NHS England criteria (2021), as well as those identified with the mutation. Our audit recorded a significant drop in the number of eligible women identified using new criteria (2.6% vs 5.2%), with a notable reduction in women of African ethnicity (15.2% vs 29.2%). The audit highlighted the need for increased health care professional awareness and the implementation of clear pathways within the antenatal diabetes service to facilitate identification of women for genetic screening and subsequent appropriate management. It also underlined the importance of ongoing assessment of the clinical performance of the new screening criteria. Copyright © 2022 John Wiley & Sons.