文章摘要
江美燕,偶 健,李 红.染色体平衡易位携带者生育风险评估[J].南京医科大学学报,2015,(9):1291~1296
染色体平衡易位携带者生育风险评估
Reproductive risk of chromosomal balanced translocation carriers
投稿时间:2014-12-30  
DOI:10.7655/NYDXBNS20150924
中文关键词: 染色体易位  生育风险  产前诊断
英文关键词: chromosomal translocation  fertility reproductive risk  prenatal diagnosis
基金项目:江苏省妇幼保健科研项目(F201317,F201443);苏州市科技发展计划(SYS201359)
作者单位
江美燕 1南京医科大学附属苏州医院生殖与遗传中心,江苏 苏州 215002
2 杭州市妇产科医院妇产科,浙江 杭州 310008 
偶 健 2 杭州市妇产科医院妇产科,浙江 杭州 310008 
李 红 2 杭州市妇产科医院妇产科,浙江 杭州 310008 
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中文摘要:
      目的:探讨染色体平衡易位携带者的生育风险,为孕前咨询和胚胎植入前遗传学诊断提供依据。方法:对173例染色体平衡易位携带者按照易位类型?性别?易位断裂点位置进行分组,并评估各组的生殖风险。结果:①173例染色体平衡易位携带者中145例有妊娠史,共妊娠312次,其中自然流产248次,B超提示胎儿畸形或羊水染色体异常引产4次,分娩正常或平衡易位后代60次。相互易位携带者自然流产的风险显著高于罗氏易位携带者,差异有统计学意义(87.3% vs. 64.5%,P < 0.05);②145例中,相互易位携带者96例,其中有近端着丝粒染色体参与易位者自然流产的风险明显高于非近端着丝粒染色体参与易位者,差异有统计学意义(92.7% vs. 81.2%,P < 0.05);染色体末端断裂者自然流产的风险高于非末端断裂者,差异有统计学意义(95.5% vs. 81.4%,P < 0.05);③男性携带者53例,18例为原发不育,35例有妊娠史;女性120例,10例为原发不孕,110例有妊娠史;男性携带者原发不育的发生率明显高于女性,差异有统计学意义(34.0% vs. 8.3%,P < 0.05);女性携带者自然流产风险高于男性,差异有统计学意义(83.7% vs. 71.2%,P < 0.05)。结论:①染色体易位携带者自然妊娠风险非常大,主要以早孕期自然流产为主;②染色体相互易位携带者的自然妊娠风险明显高于罗氏易位携带者;③相互易位携带者中,有近端着丝粒染色体参与易位者及染色体末端断裂者的自然妊娠风险分别高于非近端着丝粒染色体参与易位者及染色体非末端断裂者;④女性平衡易位携带者自然妊娠风险高于男性;⑤染色体平衡易位可能严重影响男性的生育能力,对女性生育能力的影响不明显。
英文摘要:
      Objective:To invertigate the reproductive risk of chromosomal translocation carriers,in order to provide data for preconception counseling preimplantation genetic diagnosis (PGD). Methods:A total of 173 cases with chromosomal balanced translocation were divided into different groups based on the type of translocation,gender and breakpoint positions, and a total of the reproductive risk of each group was assessed. Results:①Tweenty-eight of 173 cases were infertility,and 145 cases had pregnancy history. Pregnancies were recorded in detais. The pregnancy outcomes were as follows:248 spontaneous abortions,4 induced terminations because of fetal abnormality,60 normal/balanced offsprings. The rates of spontaneous abortion of the reciprocal translocation carriers was significantly higher than that of Robertsonian translocation carriers (87.3% vs 64.5%,P < 0.05);②Among 96 reciprocal translocation carriers with pregnancy history,the incidence of spontaneous abortion in translocations with acrocentric chromosomes was higher than those without acrocentric chromosomes (92.7% vs 81.2%,P < 0.05). The incidence of spontaneous abortion in translocations with terminal breakpoints was higher than those without terminal breakpoints (95.5% vs 81.4%,P < 0.05);③Among 58 male carriers,18 cases was infertility and 35 had pregnancy history. Among 120 female carriers,10 was infertility and 110 had pregnancy history. The incidence of infertility of female carries was higher than that of the males(34.0% vs 8.3%,P <0.05). The rates of spontaneous abortion of the female carriers with pregnancy history was significantly higher than that of the male carriers(83.7% vs 71.2%,P < 0.05). Conclusion:①Balanced translocation carriers suffer from poor pregnancy prognosis,and their most common pregnancy outcome is recurrent miscarriage in early pregnancy;②The reproductive risk of reciprocal translocation carriers was significantly higher than that of Robertsonian translocation carriers;③The reproductive risk of reciprocal translocations carriers with acrocentric chromosomes and terminal breakpoints was higher than that of those without acrocentric chromosomes and terminal breakpoints;④The reproductive risk of the female translocation carriers was significantly higher than that of male translocation carriers. ⑤Balanced tranalocations markedly affect male fertility but no significant affect on conception of female.
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