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胚胎植入前遗传学诊断是非整倍体筛查中理想的胚胎选择方法吗?

Is preimplantation genetic diagnosis the ideal embryo selection method in aneuploidy screening?

作者信息

Sahin Levent, Bozkurt Murat, Sahin Hilal, Gürel Aykut, Yumru Ayse Ender

机构信息

Department of IVF, Park Hospital, Malatya, Turkey.

Department of Obstetrics and Gynecology, Faculty of Medicine, Kafkas University, Kars, Turkey.

出版信息

Kaohsiung J Med Sci. 2014 Oct;30(10):491-8. doi: 10.1016/j.kjms.2014.05.008. Epub 2014 Jun 26.

DOI:10.1016/j.kjms.2014.05.008
PMID:25438679
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11916711/
Abstract

To select cytogenetically normal embryos, preimplantation genetic diagnosis (PGD) aneuploidy screening (AS) is used in numerous centers around the world. Chromosomal abnormalities lead to developmental problems, implantation failure, and early abortion of embryos. The usefulness of PGD in identifying single-gene diseases, human leukocyte antigen typing, X-linked diseases, and specific genetic diseases is well-known. In this review, preimplantation embryo genetics, PGD research studies, and the European Society of Human Reproduction and Embryology PGD Consortium studies and reports are examined. In addition, criteria for embryo selection, technical aspects of PGD-AS, and potential noninvasive embryo selection methods are described. Indications for PGD and possible causes of discordant PGD results between the centers are discussed. The limitations of fluorescence in situ hybridization, and the advantages of the array comparative genomic hybridization are included in this review. Although PGD-AS for patients of advanced maternal age has been shown to improve in vitro fertilization outcomes in some studies, to our knowledge, there is not sufficient evidence to use advanced maternal age as the sole indication for PGD-AS. PGD-AS might be harmful and may not increase the success rates of in vitro fertilization. At the same time PGD, is not recommended for recurrent implantation failure and unexplained recurrent pregnancy loss.

摘要

为了选择细胞遗传学正常的胚胎,世界各地的许多中心都采用了植入前遗传学诊断(PGD)非整倍体筛查(AS)。染色体异常会导致胚胎发育问题、着床失败和早期流产。PGD在识别单基因疾病、人类白细胞抗原分型、X连锁疾病和特定遗传疾病方面的作用是众所周知的。在本综述中,对植入前胚胎遗传学、PGD研究以及欧洲人类生殖与胚胎学会PGD联盟的研究和报告进行了审视。此外,还描述了胚胎选择标准、PGD-AS的技术方面以及潜在的非侵入性胚胎选择方法。讨论了PGD的适应症以及各中心之间PGD结果不一致的可能原因。本综述还包括荧光原位杂交的局限性以及阵列比较基因组杂交的优势。尽管在一些研究中已表明,针对高龄产妇患者的PGD-AS可改善体外受精结局,但据我们所知,尚无足够证据将高龄产妇作为PGD-AS的唯一适应症。PGD-AS可能有害,且可能不会提高体外受精成功率。同时,不建议对反复着床失败和不明原因反复妊娠丢失患者进行PGD。

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本文引用的文献

1
Preimplantation genetic screening (PGS) still in search of a clinical application: a systematic review.着床前基因筛查(PGS)仍在探寻临床应用:一项系统综述
Reprod Biol Endocrinol. 2014 Mar 15;12:22. doi: 10.1186/1477-7827-12-22.
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Preimplantation diagnosis for single gene disorders.单基因疾病的植入前诊断
Semin Reprod Med. 2014 Mar;32(2):107-13. doi: 10.1055/s-0033-1363552. Epub 2014 Feb 10.
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Uniparental disomy in the human blastocyst is exceedingly rare.人类囊胚中的单亲二倍体极为罕见。
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Diminished effect of maternal age on implantation after preimplantation genetic diagnosis with array comparative genomic hybridization.胚胎植入前遗传学诊断采用比较基因组杂交芯片技术后,母体年龄对胚胎着床的影响减弱。
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Multiple births following in vitro fertilization treatment: redefining success.体外受精治疗后的多胎妊娠:重新定义成功。
Eur J Obstet Gynecol Reprod Biol. 2013 Oct;170(2):299-304. doi: 10.1016/j.ejogrb.2013.06.031. Epub 2013 Jul 25.
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Single-nucleotide polymorphism microarray-based preimplantation genetic diagnosis is likely to improve the clinical outcome for translocation carriers.基于单核苷酸多态性微阵列的胚胎植入前遗传学诊断可能会改善易位携带者的临床结局。
Hum Reprod. 2013 Sep;28(9):2581-92. doi: 10.1093/humrep/det271. Epub 2013 Jul 11.
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Evolution of aneuploidy up to Day 4 of human preimplantation development.人类胚胎着床前发育至第 4 天的非整倍体演变。
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Morphological systems of human embryo assessment and clinical evidence.人类胚胎评估的形态学系统和临床证据。
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Preimplantation genetic screening using fluorescence in situ hybridization in patients with repetitive implantation failure and advanced maternal age: two randomized trials.反复着床失败且高龄患者应用荧光原位杂交进行胚胎植入前遗传学筛查:两项随机试验。
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An embryo cleavage pattern based on the relative blastomere size as a function of cell number for predicting implantation outcome.一种基于相对卵裂球大小与细胞数函数关系的胚胎卵裂模式,用于预测着床结局。
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