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[两种用于染色体易位携带者的植入前基因诊断方法的效率比较]

[Efficiency comparison between two preimplantation genetic diagnostic methods for chromosomal translocation carriers].

作者信息

Xu Yan-Wen, Ren Xiu-Lian, Liu Ying, Zeng Yan-Hong, Fang Cong, Gao Ling, Zhou Can-Quan, Zhuang Guang-Lun

机构信息

Reproductive Medicine Center, First Affiliated Hospital of Sun Yat-sen University, Guangzhou 510080, China.

出版信息

Zhonghua Fu Chan Ke Za Zhi. 2008 Aug;43(8):576-80.

Abstract

OBJECTIVE

To compare the diagnostic efficiency between blastomere preimplantation genetic diagnosis (PGD) and polar body PGD for chromosomal translocation carriers.

METHODS

Group A had 8 cycles using whole painting probes for the first polar body diagnosis, while group B had 29 cycles using two subtelomeric probes and one centromeric probe for the blastomere diagnosis.

RESULTS

The fertilization rate of group A was significantly lower than group B [66.1% (72/109) vs 85.2% (304/357), P < 0.05]. There was no significant difference in the successful biopsy rate between two groups. However, group A had a significantly higher loss rate during fixation and higher no signal rate after fluorescence in situ hybridization [FISH, 9.6% (12/104) vs 1.6% (4/252), 11.2% (10/89) vs 3.0% (7/233)]. Totally, the diagnostic efficiency in group A (72.5%, 79/109) was significantly lower than that in group B (89.8%, 230/256, P < 0.05). Although both the clinical pregnancy rate (3/7) and implantation rate (22.2%, 4/18) of group A were higher, the differences were not statistically significant (P > 0.05).

CONCLUSION

Both methods can be used efficiently in the PGD for chromosomal translocation carriers. Blastomere PGD has a higher diagnostic rate.

摘要

目的

比较卵裂球植入前遗传学诊断(PGD)和极体PGD对染色体易位携带者的诊断效率。

方法

A组8个周期采用全染色体涂染探针进行第一极体诊断,B组29个周期采用两个亚端粒探针和一个着丝粒探针进行卵裂球诊断。

结果

A组受精率显著低于B组[66.1%(72/109)对85.2%(304/357),P<0.05]。两组间成功活检率无显著差异。然而,A组在固定过程中的丢失率显著更高,荧光原位杂交(FISH)后的无信号率也更高[9.6%(12/104)对1.6%(4/252),11.2%(10/89)对3.0%(7/233)]。总体而言,A组的诊断效率(72.5%,79/109)显著低于B组(89.8%,230/256,P<0.05)。虽然A组的临床妊娠率(3/7)和着床率(22.2%,4/18)均较高,但差异无统计学意义(P>0.05)。

结论

两种方法均可有效地用于染色体易位携带者的PGD。卵裂球PGD的诊断率更高。

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