目的:探讨染色体结构异常携带者孕妇的妊娠生育风险及遗传咨询要点。方法:对22例夫妻一方为染色体结构异常携带者的孕妇进行羊水穿刺及胎儿染色体核型分析,并对妊娠结局进行随访。结果:22例携带者中女性20例,男性2例,其中平衡易位携带者14例,罗伯逊易位携带者6例,臂间倒位2例。胎儿染色体核型结果正常7例(1例1qh+划入正常范围),易位及倒位携带者10例,染色体异常5例,可见染色体异常者的发生率明显低于易位及倒位携带、胎儿染色体核型正常的发生率,差异具有统计学意义(P<0.05)。对随访结果进行分析,22例患者中5例染色体异常胎儿均已引产,引产率为22.7%;9例携带者2例引产,占9.1%;7例出生表型正常胎儿,占31.8%;1例继续妊娠中,占4.5%,其中出生表型正常胎儿的发生率明显高于引产、继续妊娠的几率,差异具有统计学意义(P<0.05)。7例染色体正常胎儿中5例出生表型正常胎儿,占22.7%;2例继续妊娠中,占9.1%,发生几率存在统计学差异(P<0.05)。结论:染色体易位和倒位是造成自然流产、胚胎停育、生育畸形儿的主要原因,对携带者进行产前诊断能有效预防染色体异常患儿出生,对于胎儿染色体核型结果应参照夫妇染色体核型结果给予相应的遗传咨询意见。 Objective: To investigate the risk of pregnancy and childbirth and genetic counseling of pregnant women with chromosomal abnormalities. Methods: A total of 22 pregnant women with abnormal chromosome structure were investigated by amniocentesis and fetal karyotype analysis. Pregnancy outcomes were followed up. Results: Among the 22 carriers, 20 were women and 2 were males. Among them, 14 were carriers of balanced translocations, 6 were carriers of Robertsonian translocation, and 2 were inversed between arms. Fetal chromosome karyotype results were normal in 7 cases (1 cases of 1qh + included in the normal range), translocation and translocation carriers in 10 cases, 5 cases of chromosomal abnormalities, we can see the incidence of chromosomal abnormalities were significantly lower than the translocation and translocation, Fetal chromosome karyotype normal incidence, the difference was statistically significant (P <0.05). The follow-up results were analyzed. Among the 22 patients, 5 cases of chromosomal abnormalities were induced by labor and the induction rate was 22.7%. Two of the 9 carriers were induced by labor, accounting for 9.1%. Seven of the fetuses with normal phenotypes accounted for 31.8% Cases continue to pregnancy, accounting for 4.5%, of which the birth phenotype of normal fetus was significantly higher than the incidence of induction of labor, the probability of continuing pregnancy, the difference was statistically significant (P <0.05). Among the 7 normal fetuses with chromosomes, 5 cases were normal fetuses with phenotypes, accounting for 22.7%. There were statistically significant differences in the incidence of pregnancy among the 2 cases (9.1%) (P <0.05). CONCLUSION: Chromosomal translocation and inversions are the main causes of spontaneous abortion, embryo stop and reproductive malformation. Prenatal diagnosis of carriers can effectively prevent the birth of children with chromosomal abnormalities. For fetal chromosomal karyotype results, reference should be made to chromosomes of couples Karyotype results give the appropriate genetic advice.