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植入前基因诊断

Preimplantation genetic diagnosis.

作者信息

Braude Peter, Pickering Susan, Flinter Frances, Ogilvie Caroline Mackie

机构信息

Centre for Preimplantation Genetic Diagnosis, Thomas Guy House, Guy's Hospital, London SE1 9RT, UK.

出版信息

Nat Rev Genet. 2002 Dec;3(12):941-53. doi: 10.1038/nrg953.

DOI:10.1038/nrg953
PMID:12459724
Abstract

Preimplantation genetic diagnosis (PGD) is an evolving technique that provides a practical alternative to prenatal diagnosis and termination of pregnancy for couples who are at substantial risk of transmitting a serious genetic disorder to their offspring. Samples for genetic testing are obtained from oocytes or cleaving embryos after in vitro fertilization. Only embryos that are shown to be free of the genetic disorders are made available for replacement in the uterus, in the hope of establishing a pregnancy. PGD has provided unique insights into aspects of reproductive genetics and early human development, but has also raised important new ethical issues about assisted human reproduction.

摘要

植入前基因诊断(PGD)是一项不断发展的技术,为那些极有可能将严重遗传病传给后代的夫妇提供了一种切实可行的替代产前诊断和终止妊娠的方法。基因检测样本取自体外受精后的卵母细胞或分裂期胚胎。只有那些被证明没有遗传病的胚胎才会被植入子宫,以期成功受孕。PGD为生殖遗传学和人类早期发育方面提供了独特的见解,但也引发了有关人类辅助生殖的重要新伦理问题。

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1
Preimplantation genetic diagnosis.植入前基因诊断
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2
microRNAs as A Biomarker to Predict Embryo Quality Assessment in In Vitro Fertilization.微小RNA作为预测体外受精胚胎质量评估的生物标志物
Int J Fertil Steril. 2023 Feb 1;17(2):85-91. doi: 10.22074/ijfs.2022.551571.1285.
3
Obstetric, neonatal, and child health outcomes following embryo biopsy for preimplantation genetic testing.
胚胎植入前遗传学检测的胚胎活检对产科、新生儿和儿童健康结局的影响。
Hum Reprod Update. 2023 May 2;29(3):291-306. doi: 10.1093/humupd/dmad001.
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Day 5 versus day 3 embryo biopsy for preimplantation genetic testing for monogenic/single gene defects.第 5 天胚胎活检与第 3 天胚胎活检用于单基因缺陷的胚胎植入前遗传学检测。
Cochrane Database Syst Rev. 2022 Nov 24;11(11):CD013233. doi: 10.1002/14651858.CD013233.pub2.
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Combining PGT-A with PGT-M risks trying to do too much.将 PGT-A 与 PGT-M 相结合存在风险,因为这可能会导致过度尝试。
J Assist Reprod Genet. 2022 Sep;39(9):2015-2018. doi: 10.1007/s10815-022-02519-8. Epub 2022 May 18.
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From Genotype to Phenotype: Polygenic Prediction of Complex Human Traits.从基因型到表型:复杂人类性状的多基因预测
Methods Mol Biol. 2022;2467:421-446. doi: 10.1007/978-1-0716-2205-6_15.
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Front Genet. 2021 Feb 9;12:633003. doi: 10.3389/fgene.2021.633003. eCollection 2021.
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Application of improved single blastomere fixation technique in preimplantation genetic diagnosis.改良单卵裂球固定技术在植入前基因诊断中的应用
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Preimplantation genetic testing for a family with usher syndrome through targeted sequencing and haplotype analysis.通过靶向测序和单体型分析对先天性耳聋综合征家系进行胚胎植入前遗传学检测。
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Use of fertilization-ethical issues.受精的伦理问题。
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