【摘要】 目的探讨平衡易位携带者妊娠风险,评估其自然受孕并获得正常后代的概率,为临床遗传咨询和生育指导提供科学依据。方法选择2016年1月至2019年12月之间因染色体平衡易位来我院进行产前诊断的夫妇共计19例,于妊娠18～22周进行羊膜腔穿刺术,进行羊水染色体核型分析及染色体微阵列(CMA)检测,对结果进行分析。结果本研究采集的19对平衡易位携带者夫妇中,共妊娠80次,发生早期流产总次数为50次,早期流产比例62.5%;还有6次妊娠胎儿有明确的染色体异常,6次妊娠原因不明夭折,胎儿总异常率77.5%。共20次成功生育表型正常婴儿,占比25%。结论平衡易位携带者流产、死胎或孕育异常胎儿的比例高于正常人群,但并非完全不能正常受孕,孕育表型正常胎儿的比例也远高于理论值。对于经济能力有限的平衡易位携带者,通过自然受孕的方式来获取后代是完全可行的。更多还原

【Abstract】 Objective To explore the risk of pregnancy in balance translocation carriers, evaluate the probability of natural conception and normal offspring, and provide scientific basis for clinical genetic counseling and fertility guidance.Methods A total of 19 couples who came to our hospital for prenatal diagnosis due to balanced translocation of chromosomes from January 2016 to December 2019 were selected. Amniocentesis was performed at 18 to 22 weeks of gestation. Karyotype analysis and chromosome microarray(CMA) detection of amniotic fluid were performed to analyze the results.Results Among 19 couples with balanced translocation carriers collected in this study, there were a total of 80 pregnancies and a total of 50 early miscarriages.The rate of early abortion was 62.5%.In addition, there were 6 fetuses with definite chromosomal abnormalities and 6 fetuses died of unknown causes, with a total fetal abnormality rate of 77.5%. A total of 20 successful births showed normal phenotype, accounting for 25%.Conclusion The proportion of miscarriage, stillbirth or abnormal fetus in balanced translocation carriers is higher than that in normal population, but not completely unable to conceive normally, and the proportion of normal fetus in balanced translocation carriers is much higher than the theoretical value.For balanced translocation carriers with limited financial capacity, it is entirely feasible to obtain offspring through natural conception.更多还原