使用13、16、18、21、22、X和Y染色体探针通过荧光原位杂交进行植入前诊断。

Preimplantation diagnosis by fluorescence in situ hybridization using 13-, 16-, 18-, 21-, 22-, X-, and Y-chromosome probes.

作者信息

Sasabe Y, Katayama K P, Nishimura T, Takahashi A, Asakura H, Winchester-Peden K, Wise L, Abe Y, Kubo H, Hirakawa S

机构信息

First Department of Obstetrics and Gynecology, School of Medicine, Toho University, Tokyo, Japan.

出版信息

J Assist Reprod Genet. 1999 Feb;16(2):92-6. doi: 10.1023/a:1022520907332.

DOI:10.1023/a:1022520907332

PMID:10079412

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3455735/

Abstract

PURPOSE

Our purpose was to select the proper chromosomes for preimplantation diagnosis based on aneuploidy distribution in abortuses and to carry out a feasibility study of preimplantation diagnosis for embryos using multiple-probe fluorescence in situ hybridization (FISH) on the selected chromosomes of biopsied blastomeres.

METHODS

After determining the frequency distribution of aneuploidy found in abortuses, seven chromosomes were selected for FISH probes. Blastomeres were obtained from 33 abnormal or excess embryos. The chromosome complements of both the biopsied blastomeres and the remaining sibling blastomeres in each embryo were determined by FISH and compared to evaluate their preimplantation diagnostic potential.

RESULTS

Chromosomes (16, 22, X, Y) and (13, 18, 21) were selected on the basis of the high aneuploid prevalence in abortuses for the former group and the presence of trisomy in the newborn for the latter. Thirty-six (72%) of 50 blastomeres gave signals to permit a diagnosis. Diagnoses made from biopsied blastomeres were consistent with the diagnoses made from the remaining sibling blastomeres in 18 embryos. In only 2 of 20 cases did the biopsied blastomere diagnosis and the embryo diagnosis not match.

CONCLUSIONS

If FISH of biopsied blastomere was successful, a preimplantation diagnosis could be made with 10% error. When a combination of chromosome-13, -16, -18, -21, -22, -X, and -Y probes was used, up to 65% of the embryos destined to be aborted could be detected.

摘要

目的

我们的目的是根据流产胎儿中的非整倍体分布情况选择合适的染色体用于植入前诊断，并利用多探针荧光原位杂交（FISH）技术对活检卵裂球的选定染色体进行胚胎植入前诊断的可行性研究。

方法

在确定流产胎儿中发现的非整倍体频率分布后，选择七条染色体作为FISH探针。从33个异常或多余的胚胎中获取卵裂球。通过FISH确定每个胚胎中活检卵裂球和其余同胞卵裂球的染色体组成，并进行比较以评估其植入前诊断潜力。

结果

根据流产胎儿中高非整倍体发生率，前一组选择了染色体（16、22、X、Y），后一组根据新生儿中三体的存在情况选择了（13、18、21）。50个卵裂球中有36个（72%）发出信号以允许进行诊断。在18个胚胎中，活检卵裂球的诊断与其余同胞卵裂球的诊断一致。在20个病例中，只有2例活检卵裂球诊断与胚胎诊断不匹配。