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植入前基因诊断/筛查的进展

Advances in preimplantation genetic diagnosis/screening.

作者信息

Yan LiYing, Wei Yuan, Huang Jin, Zhu XiaoHui, Shi XiaoDan, Xia Xi, Yan Jie, Lu CuiLing, Lian Ying, Li Rong, Liu Ping, Qiao Jie

机构信息

Department of Obstetrics and Gynecology, Peking University Third Hospital, Beijing, 100191, China.

出版信息

Sci China Life Sci. 2014 Jul;57(7):665-71. doi: 10.1007/s11427-014-4683-5. Epub 2014 Jun 7.

DOI:10.1007/s11427-014-4683-5
PMID:24907939
Abstract

Preimplantation genetic diagnosis (PGD) gives couples who have a high risk of transmitting genetic disorders to their baby the chance to have a healthy offspring through embryo genetic analysis and selection. Preimplantation genetic screening (PGS) is an effective method to select euploid embryos that may prevent repeated implantation failure or miscarriage. However, how and to whom PGS should be provided is a controversial topic. The first successful case of PGD of a human being was reported in 1990, and there have been tremendous improvements in this technology since then. Both embryo biopsy and genetic technologies have been improved dramatically, which increase the accuracy and expand the indications of PGD/PGS.

摘要

植入前基因诊断(PGD)使那些将遗传疾病传给婴儿风险很高的夫妇有机会通过胚胎基因分析和选择生育健康后代。植入前基因筛查(PGS)是选择整倍体胚胎的有效方法,可预防反复植入失败或流产。然而,PGS应如何提供以及提供给谁是一个有争议的话题。1990年报道了首例人类PGD成功案例,从那时起这项技术有了巨大进步。胚胎活检和基因技术都有了显著改进,提高了PGD/PGS的准确性并扩大了其适应症。

相似文献

1
Advances in preimplantation genetic diagnosis/screening.植入前基因诊断/筛查的进展
Sci China Life Sci. 2014 Jul;57(7):665-71. doi: 10.1007/s11427-014-4683-5. Epub 2014 Jun 7.
2
Preimplantation genetic diagnosis: state of the art.植入前基因诊断:最新技术水平
Eur J Obstet Gynecol Reprod Biol. 2009 Jul;145(1):9-13. doi: 10.1016/j.ejogrb.2009.04.004. Epub 2009 May 2.
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Preimplantation genetic diagnosis and screening.植入前基因诊断与筛查
Semin Reprod Med. 2005 Nov;23(4):336-47. doi: 10.1055/s-2005-923391.
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Preimplantation genetic diagnosis for chromosomal rearrangements with the use of array comparative genomic hybridization at the blastocyst stage.囊胚期应用 array comparative genomic hybridization 进行染色体结构重排的胚胎植入前遗传学诊断。
Fertil Steril. 2017 Jan;107(1):212-219.e3. doi: 10.1016/j.fertnstert.2016.09.045. Epub 2016 Oct 25.
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ESHRE PGD Consortium/Embryology Special Interest Group--best practice guidelines for polar body and embryo biopsy for preimplantation genetic diagnosis/screening (PGD/PGS).ESHRE PGD 联盟/胚胎学特别兴趣小组 -- 用于植入前遗传学诊断/筛查(PGD/PGS)的极体和胚胎活检的最佳实践指南。
Hum Reprod. 2011 Jan;26(1):41-6. doi: 10.1093/humrep/deq265. Epub 2010 Oct 21.
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Preimplantation genetic diagnosis (PGD) and genetic testing for aneuploidy (PGT-A): status and future challenges.植入前基因诊断(PGD)和非整倍体基因检测(PGT-A):现状与未来挑战。
Gynecol Endocrinol. 2020 Jan;36(1):6-11. doi: 10.1080/09513590.2019.1641194. Epub 2019 Jul 18.
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FISH reanalysis of inner cell mass and trophectoderm samples of previously array-CGH screened blastocysts shows high accuracy of diagnosis and no major diagnostic impact of mosaicism at the blastocyst stage.对先前经过 array-CGH 筛选的囊胚的内细胞团和滋养外胚层样本进行 FISH 重新分析,结果显示诊断的准确性很高,囊胚阶段的嵌合体对诊断没有重大影响。
Hum Reprod. 2013 Aug;28(8):2298-307. doi: 10.1093/humrep/det245. Epub 2013 Jun 5.
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Recent advances in preimplantation genetic diagnosis and screening.植入前基因诊断与筛查的最新进展。
J Assist Reprod Genet. 2016 Sep;33(9):1129-34. doi: 10.1007/s10815-016-0750-0. Epub 2016 Jun 7.
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Introduction: Preimplantation genetic screening is alive and very well.引言:胚胎植入前遗传学筛查仍然具有重要的应用价值。
Fertil Steril. 2013 Sep;100(3):593-4. doi: 10.1016/j.fertnstert.2013.07.1968. Epub 2013 Aug 2.
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PGD for a carrier of an intrachromosomal insertion using aCGH.使用比较基因组杂交技术对染色体内部插入携带者进行植入前基因诊断。
Syst Biol Reprod Med. 2014 Dec;60(6):377-82. doi: 10.3109/19396368.2014.962710. Epub 2014 Sep 23.

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The Clinical Effectiveness of Preimplantation Genetic Diagnosis for Chromosomal Translocation Carriers: A Meta-analysis.染色体易位携带者植入前基因诊断的临床效果:一项荟萃分析。
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J Assist Reprod Genet. 2016 May;33(5):637-645. doi: 10.1007/s10815-016-0667-7. Epub 2016 Feb 22.
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Live births after simultaneous avoidance of monogenic diseases and chromosome abnormality by next-generation sequencing with linkage analyses.通过下一代测序结合连锁分析同时避免单基因疾病和染色体异常后的活产。
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