植入前筛查和诊断

DeckerMed Obstetrics and Gynecology Pub Date : 2021-07-13 DOI:10.2310/OBG.19132

K. O'Brien

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引用次数: 0

摘要

通过对发育中的胚胎进行细胞活检，基因检测可以作为体外受精(IVF)周期中胚胎选择阶段的一部分进行。胚胎着床前遗传学筛查(PGS)和胚胎着床前遗传学诊断(PGD)允许在胚胎着床前和怀孕前分别在染色体和基因水平上检测胚胎的遗传状况。这篇综述包括PGS和PGD的适应症，最常用的活检和诊断方法，最近的非侵入性技术的进展，以及PGS/PGD和IVF可能对发育中的胚胎产生的潜在影响。本综述包含5个图，1个表，53篇参考文献。关键词:着床前遗传学诊断，着床前遗传学筛查，囊胚活检，囊胚活检，PGS/PGD进展，PGS/PGD适应症，无创胚胎活检，不孕症

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Pre-implantation Screening and Diagnosis

Through cellular biopsy of a developing embryo, genetic testing can be performed as part of the embryo selection phase of an in vitro fertilization (IVF) cycle. Preimplantation genetic screening (PGS) and preimplantation genetic diagnosis (PGD) allow embryos to be tested for genetic conditions on a chromosome and gene level, respectively, prior to implantation in the uterus and prior to pregnancy. Included in this review are indications for PGS and PGD, the biopsy and diagnostic methods that are most frequently utilized, advances in recent non-invasive technologies, and potential impacts that PGS/PGD and IVF may have on developing embryos. This review contains 5 figures, 1 table, and 53 references. Keywords: Preimplantation genetic diagnosis, preimplantation genetic screening, blastocyst biopsy, blastomere biopsy, advances in PGS/PGD, indications for PGS/PGD, non-invasive embryo biopsy, infertility

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DeckerMed Obstetrics and Gynecology

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