{"title":"Preimplantation genetic diagnosis","authors":"Omar El Tokhy, Mona Salman, Tarek El-Toukhy","doi":"10.1016/j.ogrm.2023.12.004","DOIUrl":null,"url":null,"abstract":"<div><p>Pre-Implantation genetic diagnosis is available to couples at risk of conceiving a pregnancy affected with a known genetic disorder. Assisted reproductive techniques<span> are used in combination with micromolecular diagnostic technologies to recognise at-risk embryos with pathogenic genetic variants at the pre-implantation stage using polar body, blastomere or trophectoderm biopsy. This review will discuss the varying genetic disorders diagnosed by Pre-Implantation Genetic Diagnosis, as well as the ethical, legal and safety implications of the process. Pioneering advances in molecular biology and cytogenomics have been utilised to expand the spectrum of genetic disorders detected.</span></p></div>","PeriodicalId":53410,"journal":{"name":"Obstetrics, Gynaecology and Reproductive Medicine","volume":null,"pages":null},"PeriodicalIF":0.0000,"publicationDate":"2024-01-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Obstetrics, Gynaecology and Reproductive Medicine","FirstCategoryId":"1085","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S1751721423001951","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"Medicine","Score":null,"Total":0}
引用次数: 0
Abstract
Pre-Implantation genetic diagnosis is available to couples at risk of conceiving a pregnancy affected with a known genetic disorder. Assisted reproductive techniques are used in combination with micromolecular diagnostic technologies to recognise at-risk embryos with pathogenic genetic variants at the pre-implantation stage using polar body, blastomere or trophectoderm biopsy. This review will discuss the varying genetic disorders diagnosed by Pre-Implantation Genetic Diagnosis, as well as the ethical, legal and safety implications of the process. Pioneering advances in molecular biology and cytogenomics have been utilised to expand the spectrum of genetic disorders detected.
期刊介绍：
Obstetrics, Gynaecology and Reproductive Medicine is an authoritative and comprehensive resource that provides all obstetricians, gynaecologists and specialists in reproductive medicine with up-to-date reviews on all aspects of obstetrics and gynaecology. Over a 3-year cycle of 36 issues, the emphasis of the journal is on the clear and concise presentation of information of direct clinical relevance to specialists in the field and candidates studying for MRCOG Part II. Each issue contains review articles on obstetric and gynaecological topics. The journal is invaluable for obstetricians, gynaecologists and reproductive medicine specialists, in their role as trainers of MRCOG candidates and in keeping up to date across the broad span of the subject area.
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