{"title":"基因组时代新生儿耳聋/听力障碍筛查","authors":"Anne B S Giersch, Cynthia C Morton","doi":"10.1093/clinchem/hvae193","DOIUrl":null,"url":null,"abstract":"<p><strong>Background: </strong>Newborn hearing screening is a physiologic screen to identify infants who may be deaf or hard of hearing (DHH) and would benefit from early intervention. Typically, an infant who does not pass the newborn hearing screen is referred for clinical audiology testing, which may be followed by genetic testing to identify the etiology of an infant's DHH.</p><p><strong>Content: </strong>The current newborn hearing screening paradigm can miss mild cases of DHH or later-onset DHH, leaving a child at risk for unrecognized DHH, which could impact long-term language, communication, and social development. Genomic technologies are improving the diagnosis of DHH in newborns who fail their newborn hearing screen, and a case is being made for genomic screening for DHH in all newborns.</p><p><strong>Summary: </strong>The genomic era brings a wealth of opportunities to screen newborns for genetic causes of hearing loss on a population wide basis, some of which are already being implemented in a clinical setting.</p>","PeriodicalId":10690,"journal":{"name":"Clinical chemistry","volume":"71 1","pages":"54-60"},"PeriodicalIF":7.1000,"publicationDate":"2025-01-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Newborn Screening for Deafness/Hard of Hearing in the Genomic Era.\",\"authors\":\"Anne B S Giersch, Cynthia C Morton\",\"doi\":\"10.1093/clinchem/hvae193\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Background: </strong>Newborn hearing screening is a physiologic screen to identify infants who may be deaf or hard of hearing (DHH) and would benefit from early intervention. Typically, an infant who does not pass the newborn hearing screen is referred for clinical audiology testing, which may be followed by genetic testing to identify the etiology of an infant's DHH.</p><p><strong>Content: </strong>The current newborn hearing screening paradigm can miss mild cases of DHH or later-onset DHH, leaving a child at risk for unrecognized DHH, which could impact long-term language, communication, and social development. Genomic technologies are improving the diagnosis of DHH in newborns who fail their newborn hearing screen, and a case is being made for genomic screening for DHH in all newborns.</p><p><strong>Summary: </strong>The genomic era brings a wealth of opportunities to screen newborns for genetic causes of hearing loss on a population wide basis, some of which are already being implemented in a clinical setting.</p>\",\"PeriodicalId\":10690,\"journal\":{\"name\":\"Clinical chemistry\",\"volume\":\"71 1\",\"pages\":\"54-60\"},\"PeriodicalIF\":7.1000,\"publicationDate\":\"2025-01-03\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Clinical chemistry\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1093/clinchem/hvae193\",\"RegionNum\":2,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q1\",\"JCRName\":\"MEDICAL LABORATORY TECHNOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Clinical chemistry","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1093/clinchem/hvae193","RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"MEDICAL LABORATORY TECHNOLOGY","Score":null,"Total":0}
Newborn Screening for Deafness/Hard of Hearing in the Genomic Era.
Background: Newborn hearing screening is a physiologic screen to identify infants who may be deaf or hard of hearing (DHH) and would benefit from early intervention. Typically, an infant who does not pass the newborn hearing screen is referred for clinical audiology testing, which may be followed by genetic testing to identify the etiology of an infant's DHH.
Content: The current newborn hearing screening paradigm can miss mild cases of DHH or later-onset DHH, leaving a child at risk for unrecognized DHH, which could impact long-term language, communication, and social development. Genomic technologies are improving the diagnosis of DHH in newborns who fail their newborn hearing screen, and a case is being made for genomic screening for DHH in all newborns.
Summary: The genomic era brings a wealth of opportunities to screen newborns for genetic causes of hearing loss on a population wide basis, some of which are already being implemented in a clinical setting.
期刊介绍：
Clinical Chemistry is a peer-reviewed scientific journal that is the premier publication for the science and practice of clinical laboratory medicine. It was established in 1955 and is associated with the Association for Diagnostics & Laboratory Medicine (ADLM).
The journal focuses on laboratory diagnosis and management of patients, and has expanded to include other clinical laboratory disciplines such as genomics, hematology, microbiology, and toxicology. It also publishes articles relevant to clinical specialties including cardiology, endocrinology, gastroenterology, genetics, immunology, infectious diseases, maternal-fetal medicine, neurology, nutrition, oncology, and pediatrics.
In addition to original research, editorials, and reviews, Clinical Chemistry features recurring sections such as clinical case studies, perspectives, podcasts, and Q&A articles. It has the highest impact factor among journals of clinical chemistry, laboratory medicine, pathology, analytical chemistry, transfusion medicine, and clinical microbiology.
The journal is indexed in databases such as MEDLINE and Web of Science.
求助内容：
应助结果提醒方式：
京公网安备 11010802042870号
