Hu Xiaokun, Wang Jing, Li Yubin, Wang Yizi, Ding Chenhui, Zeng Yanhong, Xu Yanwen, Zhou Canquan
Center for Reproductive Medicine and Department of Gynecology & Obstetrics, the First Affiliated Hospital of Sun Yat-Sen University, Guangzhou, Guangdong, China.
PLoS One. 2015 Sep 30;10(9):e0139613. doi: 10.1371/journal.pone.0139613. eCollection 2015.
The aim of this study was to explore factors contribute to the success of PGD cycles for monogenic diseases.
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.
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).
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.
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。
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。
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)。
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。