{"title":"生殖医学遗传学。","authors":"Isabel Ochando , Antonio Urbano , Joaquín Rueda","doi":"10.1016/j.arcmed.2024.103092","DOIUrl":null,"url":null,"abstract":"<div><div>Thanks to advances in technology, genetic testing is now available to explore the causes of infertility and to assess the risk of a given couple passing on a genetic disorder to their offspring. This allows at-risk couples to make an informed decision when opting for assisted reproduction and allows professionals to offer pre-implantation diagnosis when appropriate. Genetic screening of an infertile couple has thus become standard practice for an appropriate diagnosis, treatment, and prognostic assessment. This review aims to highlight the conditions under which genetic screening plays a role in improving reproductive outcomes for infertile couples.</div></div>","PeriodicalId":8318,"journal":{"name":"Archives of Medical Research","volume":"55 8","pages":"Article 103092"},"PeriodicalIF":4.7000,"publicationDate":"2024-09-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Genetics in reproductive medicine\",\"authors\":\"Isabel Ochando , Antonio Urbano , Joaquín Rueda\",\"doi\":\"10.1016/j.arcmed.2024.103092\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><div>Thanks to advances in technology, genetic testing is now available to explore the causes of infertility and to assess the risk of a given couple passing on a genetic disorder to their offspring. This allows at-risk couples to make an informed decision when opting for assisted reproduction and allows professionals to offer pre-implantation diagnosis when appropriate. Genetic screening of an infertile couple has thus become standard practice for an appropriate diagnosis, treatment, and prognostic assessment. This review aims to highlight the conditions under which genetic screening plays a role in improving reproductive outcomes for infertile couples.</div></div>\",\"PeriodicalId\":8318,\"journal\":{\"name\":\"Archives of Medical Research\",\"volume\":\"55 8\",\"pages\":\"Article 103092\"},\"PeriodicalIF\":4.7000,\"publicationDate\":\"2024-09-28\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Archives of Medical Research\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S0188440924001449\",\"RegionNum\":3,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q1\",\"JCRName\":\"MEDICINE, RESEARCH & EXPERIMENTAL\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Archives of Medical Research","FirstCategoryId":"3","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S0188440924001449","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"MEDICINE, RESEARCH & EXPERIMENTAL","Score":null,"Total":0}
Thanks to advances in technology, genetic testing is now available to explore the causes of infertility and to assess the risk of a given couple passing on a genetic disorder to their offspring. This allows at-risk couples to make an informed decision when opting for assisted reproduction and allows professionals to offer pre-implantation diagnosis when appropriate. Genetic screening of an infertile couple has thus become standard practice for an appropriate diagnosis, treatment, and prognostic assessment. This review aims to highlight the conditions under which genetic screening plays a role in improving reproductive outcomes for infertile couples.
期刊介绍:
Archives of Medical Research serves as a platform for publishing original peer-reviewed medical research, aiming to bridge gaps created by medical specialization. The journal covers three main categories - biomedical, clinical, and epidemiological contributions, along with review articles and preliminary communications. With an international scope, it presents the study of diseases from diverse perspectives, offering the medical community original investigations ranging from molecular biology to clinical epidemiology in a single publication.