{"title":"A review of neurogenetics in fetal and neonatal clinical medicine.","authors":"Amitha L Ananth, Michael A Lopez","doi":"10.1016/j.siny.2024.101550","DOIUrl":null,"url":null,"abstract":"<p><p>This review of neurogenetics serves as a primer for clinicians practicing in fetal-neonatal medicine. The review provides an update on neurogenetics, understanding the language of genetics, genetic testing approaches, and interpretation of genetic test results. Common examples of neurogenetic disease in fetal-neonatal medicine are used to enhance basic concepts. The results of genetic testing and their implications for patients and families are outlined. Genetics is becoming foundational to clinical practice across specialties. The advances are improving the speed of diagnosis, facilitating early treatments, and improving outcomes in neurogenetic disorders. A basic understanding of genetics is foundational to appropriate clinical-decision making and interpretation of those results to describe common fetal-neonatal neurological phenotypes.</p>","PeriodicalId":49547,"journal":{"name":"Seminars in Fetal & Neonatal Medicine","volume":" ","pages":"101550"},"PeriodicalIF":2.9000,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Seminars in Fetal & Neonatal Medicine","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1016/j.siny.2024.101550","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/11/7 0:00:00","PubModel":"Epub","JCR":"Q1","JCRName":"PEDIATRICS","Score":null,"Total":0}
引用次数: 0
Abstract
This review of neurogenetics serves as a primer for clinicians practicing in fetal-neonatal medicine. The review provides an update on neurogenetics, understanding the language of genetics, genetic testing approaches, and interpretation of genetic test results. Common examples of neurogenetic disease in fetal-neonatal medicine are used to enhance basic concepts. The results of genetic testing and their implications for patients and families are outlined. Genetics is becoming foundational to clinical practice across specialties. The advances are improving the speed of diagnosis, facilitating early treatments, and improving outcomes in neurogenetic disorders. A basic understanding of genetics is foundational to appropriate clinical-decision making and interpretation of those results to describe common fetal-neonatal neurological phenotypes.
期刊介绍：
Seminars in Fetal & Neonatal Medicine (formerly Seminars in Neonatology) is a bi-monthly journal which publishes topic-based issues, including current ''Hot Topics'' on the latest advances in fetal and neonatal medicine. The Journal is of interest to obstetricians and maternal-fetal medicine specialists.
The Journal commissions review-based content covering current clinical opinion on the care and treatment of the pregnant patient and the neonate and draws on the necessary specialist knowledge, including that of the pediatric pulmonologist, the pediatric infectious disease specialist, the surgeon, as well as the general pediatrician and obstetrician.
Each topic-based issue is edited by an authority in their field and contains 8-10 articles.
Seminars in Fetal & Neonatal Medicine provides:
• Coverage of major developments in neonatal care;
• Value to practising neonatologists, consultant and trainee pediatricians, obstetricians, midwives and fetal medicine specialists wishing to extend their knowledge in this field;
• Up-to-date information in an attractive and relevant format.
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