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早期人类胚胎非整倍体筛查的植入前基因诊断:综述

Preimplantation genetic diagnosis for aneuploidy screening in early human embryos: a review.

作者信息

Wilton Leeanda

机构信息

Genetic and Molecular Research Laboratory, Melbourne IVF, East Melbourne, Victoria, Australia.

出版信息

Prenat Diagn. 2002 Jun;22(6):512-8. doi: 10.1002/pd.388.

Abstract

Embryonic aneuploidies may be responsible for pregnancy failure in many IVF patients. In recent years, fluorescent in situ hybridisation (FISH) for multiple chromosomes has been used to document a high frequency of chromosomal errors and aneuploidy in human preimplantation embryos and, after embryo biopsy, to select embryos that are more likely to implant. Such studies suggest that women with recurrent miscarriage and advanced maternal age may benefit most from preimplantation genetic diagnosis with aneuploidy screening (PGD-AS). The success of PGD-AS is likely to be enhanced by new technologies, such as comparative genomic hybridisation, which enable full karyotyping of single cells.

摘要

胚胎非整倍体可能是许多体外受精患者妊娠失败的原因。近年来,针对多条染色体的荧光原位杂交(FISH)已被用于记录人类植入前胚胎中染色体错误和非整倍体的高发生率,并且在胚胎活检后,用于选择更有可能着床的胚胎。此类研究表明,反复流产和高龄产妇可能从非整倍体筛查的植入前基因诊断(PGD-AS)中获益最多。新技术,如比较基因组杂交,能够对单细胞进行全核型分析,这可能会提高PGD-AS的成功率。

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