Abstract: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.