生殖医学中的遗传测试

English | 2024 | ISBN: 981997027X | 330 Pages | PDF EPUB (True) | 19 MB

This textbook illustrates the importance and significance of molecular genetic testing in reproductive disorders. The present book covers the genetic testing in various reproductive system anomalies, including disorders of sexual development, male infertility (Y deletions, autosomal mutations, sperm DNA fragmentation), female infertility (PCOS and POF), mitochondrial DNA testing for oocyte quality, recurrent pregnancy loss, pre-term birth, endometrial receptivity, prenatal genetic screening, reproductive carrier screening, preimplantation genetic screening, endometrial cancer, cervical cancer and other related reproductive health disorders. Microbiome testing and its contribution to genetic testing in reproductive medicine are also discussed. Genetic testing in some of these has already come into practice, genetic testing for others is established but not clinically practiced, and genetic testing for others is yet in infancy as there is only limited data available. For the disorders where sufficient genetic data to undertake genetic testing is not available, we have tried to put together the evidence for proposing such tests in the near future. Apart from this, the book also covers ethical, moral and technical challenges in genetic testing in reproductive medicine. The book aims to set up a standard with regard to genetic testing in the reproductive medicine field, encourage further data generation, and provide food for thought in the areas of lacunae.

这本教材阐述了分子遗传检测在生殖障碍中的重要性和意义。本书涵盖了生殖系统各种异常的遗传学检测，包括性发育障碍、男性不育症（Y染色体缺失、常染色体突变、精子DNA碎片）、女性不孕症（多囊卵巢综合征和原发性卵泡衰竭）、卵子质量的线粒体DNA检测、反复流产、早产、子宫内膜容受性、孕期遗传筛查、生殖携带者筛查、胚胎植入前遗传学筛查、子宫内膜癌、宫颈癌等与生殖健康相关的疾病。本书还讨论了微生物组检测及其对生殖医学中遗传学检测的贡献。其中，某些疾病的遗传测试已经应用于临床实践，有些疾病的遗传测试已建立但尚未在临床上应用，还有一些疾病的遗传测试仍在初级阶段，因为可用的数据有限。对于缺乏足够遗传数据以进行遗传测试的情况，我们尝试收集证据，以便在未来提出这些测试。此外，本书还涵盖了生殖医学中遗传学检测面临的伦理、道德和技术挑战。本教材旨在设定生殖医学领域内的遗传学检测标准，鼓励进一步的数据生成，并在某些领域的空白地带提供思考的食粮。

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