染色体平衡易位携带者生育风险评估

发布时间：2018-09-04 17:21

【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%,P0.05);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%,P0.05);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%,P0.05);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%,P0.05);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%,P0.05)。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。
[Abstract]:Objective: to explore the reproductive risk of chromosome balanced translocation carriers and to provide evidence for prepregnancy counseling and preimplantation genetic diagnosis. Methods: 173 chromosome balanced translocation carriers were divided into three groups according to translocation type, sex and translocation breakpoints, and the reproductive risk of each group was evaluated. Results 145 of 1173 chromosomal balanced translocation carriers had a history of pregnancy, of which 248 were spontaneous miscarriage. B-mode ultrasound suggested that fetal malformation or amniotic fluid chromosomal abnormalities were induced 4 times, and normal or balanced translocation offspring 60 times. The risk of spontaneous abortion of reciprocal translocation carriers was significantly higher than that of Roche translocation carriers. The difference was statistically significant (87.3% vs. 64.5% P0.05). Among 2145 cases, 96 cases were reciprocal translocation carriers. The risk of spontaneous abortion in those with proximal centromere chromosomes involved in translocation was significantly higher than that in non-proximal telocentric chromosomes (92.7vs.81.2p0.05), and the risk of spontaneous abortion was higher in those with chromosomal terminal breakage than those with non-terminal breakage (P < 0.05). The difference was statistically significant (95.5vs.81.4) 53 male carriers (18 cases) with primary infertility, 35 cases with pregnancy history, 120 cases (10 cases) with primary infertility and 110 cases with pregnancy history. The incidence of primary infertility in male carriers was significantly higher than that in women. The difference was statistically significant (34.0vs.8.3), and the risk of spontaneous abortion in female carriers was higher than that in males (83.7vs.71.2). Conclusion the natural pregnancy risk of chromosome 1 translocation carrier is very high. The natural pregnancy risk of chromosome 2 chromosome translocation carrier is significantly higher than that of roche translocation carrier. The risk of natural pregnancy in those with proximal centromere chromosomes involved in translocation and chromosome terminal breakage were higher than those with non-proximal centromere chromosomes participating in translocation and non-terminal chromosomal breakage. 4 Women with balanced translocation carriers were at higher risk than those with non-proximal centromere chromosomes participating in translocation. The risk of pregnancy is higher than that of male chromosome 5 balanced translocation, which may seriously affect male fertility. The effect on female fertility is not obvious.
【作者单位】：南京医科大学附属苏州医院生殖与遗传中心;杭州市妇产科医院妇产科;
【基金】：江苏省妇幼保健科研项目(F201317,F201443) 苏州市科技发展计划(SYS201359)
【分类号】：R715.5

【共引文献】