女性肌强直性营养不良 1 型（DM1）患者行 PGD 的生殖结局不受扩增 CTG 重复片段大小的影响。
The reproductive outcome of female patients with myotonic dystrophy type 1 (DM1) undergoing PGD is not affected by the size of the expanded CTG repeat tract.
机构信息
Centre for Reproductive Medicine, Universitair Ziekenhuis Brussel, Vrije Universiteit Brussel, 101 Laarbeeklaan, 1090, Brussels, Belgium.
出版信息
J Assist Reprod Genet. 2010 Jun;27(6):327-33. doi: 10.1007/s10815-010-9392-9. Epub 2010 Mar 11.
PURPOSE
This study aims to analyze the relationship between trinucleotide repeat length and reproductive outcome in a large cohort of DM1 patients undergoing ICSI and PGD.
METHODS
Prospective cohort study. The effect of trinucleotide repeat length on reproductive outcome per patient was analyzed using bivariate analysis (T-test) and multivariate analysis using Kaplan-Meier and Cox regression analysis.
RESULTS
Between 1995 and 2005, 205 cycles of ICSI and PGD were carried out for DM1 in 78 couples. The number of trinucleotide repeats does not have an influence on reproductive outcome when adjusted for age, BMI, basal FSH values, parity, infertility status and male or female affected. Cox regression analysis indicates that cumulative live birth rate is not influenced by the number of trinucleotide repeats. The only factor with a significant effect is age (p < 0.05).
CONCLUSION
There is no evidence of an effect of trinucleotide repeat length on reproductive outcome in patients undergoing ICSI and PGD.
目的
本研究旨在分析在接受 ICSI 和 PGD 的大量 DM1 患者中，三核苷酸重复长度与生殖结局之间的关系。
方法
前瞻性队列研究。使用双变量分析（T 检验）和 Kaplan-Meier 及 Cox 回归分析对每位患者的三核苷酸重复长度对生殖结局的影响进行分析。
结果
1995 年至 2005 年间，78 对夫妇共进行了 205 个 DM1 的 ICSI 和 PGD 周期。调整年龄、BMI、基础 FSH 值、孕产史、不孕状态以及男女发病后，三核苷酸重复的数量对生殖结局没有影响。Cox 回归分析表明，三核苷酸重复的数量并不影响累积活产率。唯一有显著影响的因素是年龄（p < 0.05）。
结论
在接受 ICSI 和 PGD 的患者中，三核苷酸重复长度对生殖结局没有影响。
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