Cheng Ran, Ma Yaxian, Nie Ying, Qiao Xiaoyong, Yang Zhilan, Zeng Rujun, Xu Liangzhi
Department of Obstetrics and Gynecology, West China Second University Hospital, Sichuan University, Chengdu, Sichuan 610041, China; The Joint Laboratory for Reproductive Medicine of Sichuan University, The Chinese University of Hong Kong, Chengdu, Sichuan 610041, China; Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, China.
Department of Obstetrics and Gynecology, West China Second University Hospital, Sichuan University, Chengdu, Sichuan 610041, China; The Joint Laboratory for Reproductive Medicine of Sichuan University, The Chinese University of Hong Kong, Chengdu, Sichuan 610041, China; Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, China.
Reprod Biomed Online. 2017 Jul;35(1):72-80. doi: 10.1016/j.rbmo.2017.03.022. Epub 2017 Apr 24.
Data from 19,950 women were retrospectively analysed to determine the effect of chromosomal polymorphisms on female infertility and pregnancy outcome; fertile women were used as controls. Frequency of chromosomal polymorphisms and adverse pregnancy outcomes were compared between groups. A significantly higher incidence of chromosomal polymorphisms was found in total infertile patients, and patients with tubal infertility, ovulatory dysfunction, cervical and uterine abnormalities, and unexplained infertility compared with controls (5.53% [P < 0.001], 4.86% [P = 0.012] 5.40% [P < 0.001], 5.75% [P < 0.001] and 8.51% [P < 0.001], versus 3.74%, respectively). Infertile women had a higher incidence of 9qh+ and inv(9) compared with controls (P < 0.001 and P = 0.027). Logistic regression analysis showed an effect of chromosomal polymorphisms on female infertility (adjusted OR 1.662, 95% CI 1.551 to 1.796, P < 0.001). All couples reported a phenotypically normal baby. In control and tubal infertility groups, miscarriage rates were higher in women with chromosomal polymorphisms than in women with normal chromosomes (4.95% versus 0.96%, P = 0.001 and 6.17% versus 1.08%, P < 0.001). Preterm birth rate showed a similar trend. Chromosomal polymorphisms adversely affected spontaneous miscarriage rates (adjusted OR 1.625, 95% CI 1.514 to 1.769, P = 0.005).
对19950名女性的数据进行回顾性分析，以确定染色体多态性对女性不孕及妊娠结局的影响；将生育期女性作为对照。比较了两组之间染色体多态性的频率及不良妊娠结局。与对照组相比，在所有不孕患者、输卵管性不孕患者、排卵功能障碍患者、宫颈及子宫异常患者以及不明原因不孕患者中，染色体多态性的发生率显著更高（分别为5.53%[P<0.001]、4.86%[P = 0.012]、5.40%[P<0.001]、5.75%[P<0.001]和8.51%[P<0.001]，而对照组为3.74%）。与对照组相比，不孕女性中9qh+和inv(9)的发生率更高（P<0.001和P = 0.027）。逻辑回归分析显示染色体多态性对女性不孕有影响（校正比值比1.662，95%置信区间1.551至1.796，P<0.001）。所有夫妇均报告产下表型正常的婴儿。在对照组和输卵管性不孕组中，染色体多态性女性的流产率高于染色体正常的女性（4.95%对0.96%，P = 0.001；6.17%对1.08%，P<0.001）。早产率也呈现类似趋势。染色体多态性对自然流产率有不利影响（校正比值比1.625，95%置信区间1.514至1.769，P = 0.005）。
