对反复辅助生殖失败的夫妇进行基因筛查。
Genetic screening in couples experiencing recurrent assisted procreation failure.
作者信息
Dada Rima, Kumar R, Shamsi M B, Tanwar M, Pathak D, Venkatesh S, Kumar M, Singh H, Singh K, Aron M, Kumar R, Singh G, Sharma R K, Gupta N P
机构信息
Laboratory of Molecular Reproduction and Genetics, Department of Anatomy, All India Institute of Medical Sciences, New Delhi, 110029, India.
出版信息
Indian J Biochem Biophys. 2008 Apr;45(2):116-20.
Infertility is a major health problem affecting about 10-20% of couples in the reproductive age group. Male factor is assumed to be responsible in about 50% cases of infertility. The origin of reduced testicular sperm function is unknown in about 50-70% of cases and for such couples assisted reproduction techniques (ART) are a boon. Male infertility is often due to poor semen quality and may be associated with genetic defects. ART has revolutionized management of infertility and intracytoplasmic sperm injection (ICSI) is the ART procedure of choice in 60-80% cases. Despite major technological advancements and professional expertise in ART, the success rate and carry-home live birth rate of ICSI is low (18-25%). This study was aimed to understand the genetic etiopathology of recurrent ART failure. For this, 110 couples with 3 or more failed ART cycles were recruited. A detailed history was taken and only idiopathic ART failure cases were enrolled for this study. They were subjected to cytogenetic and Yq microdeletion analysis. Genetic abnormalities were detected in 19 couples. Since a large number (18.2%) cases harboured genetic abnormalities, it is important for all couples opting for ART to undergo a thorough genetic analysis to prevent recurrent emotional, physical and financial stress.
不孕症是一个重大的健康问题，影响着约10%-20%处于生育年龄的夫妇。在约50%的不孕症病例中，男性因素被认为是病因。在约50%-70%的病例中，睾丸精子功能下降的原因不明，对于这类夫妇来说，辅助生殖技术（ART）是一大福音。男性不育症通常是由于精液质量差，可能与遗传缺陷有关。辅助生殖技术彻底改变了不孕症的治疗方式，卵胞浆内单精子注射（ICSI）是60%-80%病例的首选辅助生殖技术。尽管辅助生殖技术取得了重大技术进步并拥有专业的专业知识，但ICSI的成功率和带回家的活产率仍然很低（18%-25%）。本研究旨在了解反复辅助生殖技术失败的遗传病因。为此，招募了110对经历过3次或更多次辅助生殖技术周期失败的夫妇。详细询问了病史，只有特发性辅助生殖技术失败的病例被纳入本研究。他们接受了细胞遗传学和Yq微缺失分析。在19对夫妇中检测到了基因异常。由于大量（18.2%）病例存在基因异常，对于所有选择辅助生殖技术的夫妇来说，进行全面的基因分析以避免反复出现情感、身体和经济压力非常重要。
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