{"title":"新生儿基因组检测","authors":"Jessica Salkind, Alison Mintoft, Giles Kendall, Tazeen Ashraf","doi":"10.1136/archdischild-2023-326716","DOIUrl":null,"url":null,"abstract":"<p><p>Recent technological advances have led to the expansion of testing options for newborns with suspected rare genetic conditions, particularly in high-income healthcare settings. This article summarises the key genomic testing approaches, their indications and potential limitations.</p>","PeriodicalId":55471,"journal":{"name":"Archives of Disease in Childhood-Education and Practice Edition","volume":" ","pages":""},"PeriodicalIF":1.1000,"publicationDate":"2024-06-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Genomic testing in neonates.\",\"authors\":\"Jessica Salkind, Alison Mintoft, Giles Kendall, Tazeen Ashraf\",\"doi\":\"10.1136/archdischild-2023-326716\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Recent technological advances have led to the expansion of testing options for newborns with suspected rare genetic conditions, particularly in high-income healthcare settings. This article summarises the key genomic testing approaches, their indications and potential limitations.</p>\",\"PeriodicalId\":55471,\"journal\":{\"name\":\"Archives of Disease in Childhood-Education and Practice Edition\",\"volume\":\" \",\"pages\":\"\"},\"PeriodicalIF\":1.1000,\"publicationDate\":\"2024-06-13\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Archives of Disease in Childhood-Education and Practice Edition\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1136/archdischild-2023-326716\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q3\",\"JCRName\":\"PEDIATRICS\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Archives of Disease in Childhood-Education and Practice Edition","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1136/archdischild-2023-326716","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"PEDIATRICS","Score":null,"Total":0}
Recent technological advances have led to the expansion of testing options for newborns with suspected rare genetic conditions, particularly in high-income healthcare settings. This article summarises the key genomic testing approaches, their indications and potential limitations.
期刊介绍：
Archives of Disease in Childhood is an international peer review journal that aims to keep paediatricians and others up to date with advances in the diagnosis and treatment of childhood diseases as well as advocacy issues such as child protection. It focuses on all aspects of child health and disease from the perinatal period (in the Fetal and Neonatal edition) through to adolescence. ADC includes original research reports, commentaries, reviews of clinical and policy issues, and evidence reports. Areas covered include: community child health, public health, epidemiology, acute paediatrics, advocacy, and ethics.
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