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复发性流产中染色体非整倍体的荧光原位杂交植入前诊断

FISH preimplantation diagnosis of chromosome aneuploidy in recurrent pregnancy wastage.

作者信息

Vidal F, Giménez C, Rubio C, Simón C, Pellicer A, Santaló J, Egozcue J

机构信息

Unitat de Biologia Cellular, Universitat Autònoma de Barcelona, Bellaterra, Spain.

出版信息

J Assist Reprod Genet. 1998 May;15(5):310-3. doi: 10.1023/a:1022552713015.

Abstract

PURPOSE

Our purpose was to detect aneuploidy for chromosomes 13, 16, 18, 21, 22, X, and Y in preimplantation embryos from patients with a history of unexplained recurrent miscarriage.

METHODS

Three patients with a history of unexplained recurrent spontaneous abortion were included in this study. Embryos were biopsied at the eight-cell stage, individually fixed on slides, and processed for fluorescent in situ hybridization (FISH). A multiple FISH protocol for seven chromosomes pairs (13, 16, 18, 21, 22, X, and Y) has been developed.

RESULTS

A total of 39 embryos was studied with the multiple FISH protocol developed. Successful analysis of the biopsied embryos was achieved within the time limits usually allowed in a preimplantation diagnosis program. Analysis of the blastomeres showed that 17 embryos were chromosomally normal for the probes used, 16 embryos were aneuploid, and in 6 embryos no informative results were obtained.

CONCLUSIONS

In the patients studied, a large proportion of embryos (41%) exhibited chromosomal abnormalities for the probes used. Preimplantation diagnosis to screen for chromosome abnormalities could be a feasible approach to improve the possibility of successful pregnancy in these couples.

摘要

目的

我们的目的是检测有不明原因复发性流产病史患者的植入前胚胎中13、16、18、21、22、X和Y染色体的非整倍体情况。

方法

本研究纳入了3例有不明原因复发性自然流产病史的患者。胚胎在八细胞阶段进行活检,分别固定在载玻片上,并进行荧光原位杂交(FISH)处理。已开发出一种针对七对染色体(13、16、18、21、22、X和Y)的多重FISH方案。

结果

使用所开发的多重FISH方案共研究了39个胚胎。在植入前诊断程序通常允许的时间限制内成功完成了对活检胚胎的分析。对卵裂球的分析表明,对于所使用的探针,17个胚胎染色体正常,16个胚胎为非整倍体,6个胚胎未获得有效结果。

结论

在所研究的患者中,很大一部分胚胎(41%)对于所使用的探针表现出染色体异常。植入前诊断以筛查染色体异常可能是提高这些夫妇成功妊娠可能性的一种可行方法。

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