植入前遗传学诊断

Q3 Medicine

Obstetrics, Gynaecology and Reproductive Medicine Pub Date : 2024-01-05 DOI:10.1016/j.ogrm.2023.12.004

Omar El Tokhy, Mona Salman, Tarek El-Toukhy

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引用次数: 0

摘要

胚胎植入前遗传学诊断适用于有可能受孕并患有已知遗传疾病的夫妇。辅助生殖技术与微分子诊断技术相结合，利用极体、胚泡或滋养层活检，在植入前阶段识别具有致病基因变异的高风险胚胎。本综述将讨论植入前遗传学诊断所诊断出的各种遗传疾病，以及该过程的伦理、法律和安全影响。分子生物学和细胞基因组学的开创性进步扩大了遗传疾病的检测范围。

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Preimplantation genetic diagnosis

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.

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来源期刊

Obstetrics, Gynaecology and Reproductive Medicine Medicine-Obstetrics and Gynecology

CiteScore

0.90

自引率

0.00%

发文量

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.