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单基因疾病胚胎植入前基因诊断的临床考量

Clinical Considerations of Preimplantation Genetic Diagnosis for Monogenic Diseases.

作者信息

Hu Xiaokun, Wang Jing, Li Yubin, Wang Yizi, Ding Chenhui, Zeng Yanhong, Xu Yanwen, Zhou Canquan

机构信息

Center for Reproductive Medicine and Department of Gynecology & Obstetrics, the First Affiliated Hospital of Sun Yat-Sen University, Guangzhou, Guangdong, China.

出版信息

PLoS One. 2015 Sep 30;10(9):e0139613. doi: 10.1371/journal.pone.0139613. eCollection 2015.

Abstract

PURPOSE

The aim of this study was to explore factors contribute to the success of PGD cycles for monogenic diseases.

METHODS

During a 3-year period (January 2009 to December 2012), 184 consecutive ICSI-PGD cycles for monogenic diseases reaching the ovum pick-up and fresh embryo-transfer stage performed at the Reproductive Medicine Center of The First Affiliated Hospital Of Sun Yat-sen University were evaluated.

RESULTS

ICSI was performed on 2206 metaphase II oocytes, and normal fertilization and cleavage rates were 83.4% (1840/2206) and 96.2% (1770/1840), respectively. In the present study, 60.5% (181/299) of day 3 good-quality embryos developed into good-quality embryos on day 4 after biopsy. Collectively, 42.9% clinical pregnancy rate (79/184) and 28.5% implantation rate (111/389) were presented. In the adjusted linear regression model, the only two significant factors affecting the number of genetically unaffected embryos were the number of biopsied embryos (coefficient: 0.390, 95%CI 0.317-0.463, P = 0.000) and basal FSH level (coefficient: 0.198, 95%CI 0.031-0.365, P = 0.021). In the adjusted binary logistic regression model, the only two significant factors affecting pregnancy outcome were the number of genetically available transferable embryos after PGD (adjusted OR 1.345, 95% CI 1.148-1.575, P = 0.000) and number of oocyte retrieved (adjusted OR 0.934, 95% CI 0.877-0.994, P = 0.031).

CONCLUSION

There should be at least four biopsied embryos to obtain at least one unaffected embryos in a PGD system for patients with single gene disorder and under the condition of basal FSH level smaller than 8.0mmol/L. Moreover, if only a low number (< 4) of biopsied embryos are available on day 3, the chance of unaffected embryos for transfer was small, with poor outcome.

摘要

目的

本研究旨在探索有助于单基因疾病植入前基因诊断(PGD)周期成功的因素。

方法

在3年期间(2009年1月至2012年12月),对中山大学附属第一医院生殖医学中心连续进行的184个单基因疾病的卵胞浆内单精子注射-植入前基因诊断(ICSI-PGD)周期进行评估,这些周期达到了取卵和新鲜胚胎移植阶段。

结果

对2206个中期II卵母细胞进行了ICSI,正常受精率和卵裂率分别为83.4%(1840/2206)和96.2%(1770/1840)。在本研究中,60.5%(181/299)的第3天优质胚胎在活检后第4天发育为优质胚胎。总体而言,临床妊娠率为42.9%(79/184),着床率为28.5%(111/389)。在调整后的线性回归模型中,影响未受影响胚胎数量的仅有的两个显著因素是活检胚胎数量(系数:0.390,95%CI 0.317-0.463,P = 0.000)和基础促卵泡激素(FSH)水平(系数:0.198,95%CI 0.031-0.365,P = 0.021)。在调整后的二元逻辑回归模型中,影响妊娠结局的仅有的两个显著因素是PGD后可用于移植的基因正常的胚胎数量(调整后比值比1.345,95%CI 1.148-1.575,P = 0.000)和获卵数(调整后比值比0.934,95%CI 0.877-0.994,P = 0.031)。

结论

对于单基因疾病患者,在基础FSH水平小于8.0mmol/L的情况下,在PGD系统中,要获得至少一个未受影响的胚胎,至少应有4个活检胚胎。此外,如果第3天仅获得少量(<4个)活检胚胎,则可供移植的未受影响胚胎的机会较小,结局较差。

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