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强直性肌营养不良女性的卵巢储备与植入前基因诊断治疗结局

Ovarian reserve and PGD treatment outcome in women with myotonic dystrophy.

作者信息

Srebnik N, Margalioth E J, Rabinowitz R, Varshaver I, Altarescu G, Renbaum P, Levi-Lahad E, Weintraub A, Eldar-Geva T

机构信息

Reproductive Endocrinology and Genetics Unit, IVF Unit, Department of Obstetrics and Gynecology, Shaare Zedek Medical Center, Jerusalem, Israel; Hebrew University School of Medicine, Jerusalem, Israel.

Reproductive Endocrinology and Genetics Unit, IVF Unit, Department of Obstetrics and Gynecology, Shaare Zedek Medical Center, Jerusalem, Israel.

出版信息

Reprod Biomed Online. 2014 Jul;29(1):94-101. doi: 10.1016/j.rbmo.2014.03.013. Epub 2014 Mar 31.

DOI:10.1016/j.rbmo.2014.03.013
PMID:24813161
Abstract

Myotonic dystrophy (DM) is the most common form of muscular dystrophy in adults. There are conflicting reports about its effect on female fertility. This study investigated ovarian reserve and IVF-preimplantation genetic diagnosis (PGD) outcome in women with DM1. A total of 21 women undergoing PGD for DM1 were compared with 21 age- and body mass index-matched women undergoing PGD for other diseases. Ovarian reserve markers, response to stimulation, embryo quality and clinical pregnancy and live birth rates were compared. Day-3 FSH concentration was higher, while anti-Müllerian hormone concentration and antral follicle count were lower in the DM1 group (median, range: 6.9 (1.8-11.3) versus 5.7 (1.5-10.7)IU/l; 0.9 (0.17-5.96) versus 2.68 (0.5-9.1)ng/ml; and 13 (0-63) versus 23 (8-40) follicles, respectively, all P < 0.05). Total FSH dose was higher (5200 versus 2250 IU, P = 0.004), while the numbers of oocytes retrieved (10 versus 16, P < 0.04) and metaphase-II oocytes (9 versus 12, P < 0.03) were lower in the DM1 group. The number of cycles with top-quality embryos and the clinical pregnancy rate were lower in the DM1 group. In conclusion, there is evidence of diminished ovarian reserve and less favourable IVF-PGD outcome in women with DM1. Myotonic Dystrophy (DM) is the most common form of muscular dystrophy in adults. There is evidence of subfertility in males affected with the disease but conflicting reports about the effect of the disease on female fertility. The aim of our study was to investigate ovarian reserve and IVF-PGD results in women with DM. Twenty-one women undergoing preimplantation genetic diagnosis (PGD) treatment for DM were compared to 21 age- and BMI matched women undergoing PGD treatment for other diseases. The two groups were compared for antral follicle count (AFC) and serum anti-Mullerian hormone (AMH) levels (the best known markers of ovarian reserve and fertility potential), ovarian response, embryo quality and pregnancy and live birth rates. AFC and the AMH levels were statistically significant lower in the DM group. Total medication dose needed for ovarian stimulation was higher, the number of oocytes and mature oocytes retrieved, and the number of cycles with top quality embryos were lower in the DM group compared to the controls. In conclusion, there is evidence of diminished ovarian reserve, and less favorable IVF-PGD outcome in women with DM. Therefore, we recommend advising these women about the possibility of early decreasing ovarian function in order to prevent any delay in reproductive planning.

摘要

强直性肌营养不良(DM)是成人中最常见的肌营养不良形式。关于其对女性生育能力的影响,存在相互矛盾的报道。本研究调查了患有DM1的女性的卵巢储备和体外受精-植入前基因诊断(PGD)结果。将总共21名因DM1接受PGD的女性与21名年龄和体重指数匹配、因其他疾病接受PGD的女性进行比较。比较了卵巢储备标志物、对刺激的反应、胚胎质量以及临床妊娠率和活产率。DM1组第3天的促卵泡激素(FSH)浓度较高,而抗苗勒管激素浓度和窦卵泡计数较低(中位数,范围:6.9(1.8 - 11.3)对5.7(1.5 - 10.7)IU/L;0.9(0.17 - 5.96)对2.68(0.5 - 9.1)ng/ml;以及分别为13(0 - 63)对23(8 - 40)个卵泡,所有P < 0.05)。DM1组的总FSH剂量较高(5200对2250 IU,P = 0.004),而获取的卵母细胞数量(10对16,P < 0.04)和中期II卵母细胞数量(9对12,P < 0.03)较低。DM1组中优质胚胎的周期数和临床妊娠率较低。总之,有证据表明患有DM1的女性卵巢储备减少,体外受精 - PGD结果较差。强直性肌营养不良(DM)是成人中最常见的肌营养不良形式。有证据表明受该疾病影响的男性存在生育力低下,但关于该疾病对女性生育能力的影响存在相互矛盾的报道。我们研究的目的是调查患有DM的女性的卵巢储备和体外受精 - PGD结果。将21名因DM接受植入前基因诊断(PGD)治疗的女性与21名年龄和体重指数匹配、因其他疾病接受PGD治疗的女性进行比较。比较两组的窦卵泡计数(AFC)和血清抗苗勒管激素(AMH)水平(卵巢储备和生育潜力最知名的标志物)、卵巢反应、胚胎质量以及妊娠率和活产率。DM组的AFC和AMH水平在统计学上显著较低。与对照组相比,DM组卵巢刺激所需的总药物剂量较高,获取的卵母细胞和成熟卵母细胞数量以及优质胚胎的周期数较低。总之,有证据表明患有DM的女性卵巢储备减少,体外受精 - PGD结果较差。因此,我们建议告知这些女性卵巢功能可能早期下降的情况,以防止生殖计划出现任何延迟。

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