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目的探讨染色体平衡易位携带者的妊娠风险及其妊娠结局。方法 194例染色体平衡易位携带者,根据平衡易位种类分成相互易位(135例)、非同源罗伯逊易位(52例)、同源罗伯逊易位(7例)3组。调查携带者生育史并随访诊断平衡易位后的妊娠情况,比较各组自然流产、先天缺陷及正常(或)平衡易位后代概率。结果 (1)194对夫妇共妊娠503例次,其中自然流产411例次(81.7%,411/503);产前诊断胎儿异常而终止妊娠16例次(3.2%,16/503);活产缺陷儿36例次(7.2%,36/503);正常(或)平衡易位后代40例次(8.0%,40/503)。(2)相互易位、非同源罗伯逊易位、同源罗伯逊易位3组,活产缺陷儿比率分别为5.7%(20/350)、10.9%(14/128)、8.0%(2/25),3组间相互比较,差异有统计学意义(P<0.05);3组正常(或)平衡易位后代比率分别为6.6%(23/350)、13.3%(17/128)、0,3组间相互比较,差异有统计学意义(P<0.05);而3组自然流产及产前诊断胎儿异常终止妊娠比率比较,差异无统计学意义(P>0.05)。(3)52例次先天缺陷中活产36例次(69%),经产前诊断确诊后引产16例次(31%)。27例次先天缺陷获得细胞遗传学诊断,唐氏综合征发生率为59%(16/27)。(4)相互易位组和非同源罗伯逊易位组共有39对夫妇得到40个正常(或)平衡易位后代,同源罗伯逊易位组无正常(或)平衡易位后代。40个正常(或)平衡易位后代中26个获得产前细胞遗传学诊断,正常核型6个(23%),平衡易位核型20个(77%)。结论染色体平衡易位携带者自然妊娠风险大,尤其同源罗伯逊易位携带者难以获得染色体正常(或)平衡易位的后代。
Objective To investigate the risk of pregnancy and its pregnancy outcome in patients with chromosomal equilibrium translocation carriers. METHODS: One hundred and ninety-four chromosome-balanced translocations were divided into three groups: translocation (135 cases), non-homologous Robertsonian translocation (52 cases) and homologous Robertsonian translocation (7 cases) according to the type of equilibrium translocation. To investigate the gestational age of carriers and the follow-up diagnosis of pregnancy after balance translocation, and to compare the probability of spontaneous abortion, birth defects and normal or balanced translocation in each group. RESULTS: (1) There were 503 cases of 194 pregnancies in total, including 411 spontaneous abortions (81.7%, 411/503), 16 cases (3.2%, 16/503) of terminating pregnancies during prenatal diagnosis of fetal abnormalities, and live births The number of defective children was 36 cases (7.2%, 36/503), and the number of normal or balanced translocations was 40 (8.0%, 40/503). (2) Mutual translocation, non-homologous Robertsonian translocation, homologous Robertsonian translocation, and live birth defects were 5.7% (20/350), 10.9% (14/128) and 8.0% (P <0.05). The normal and / or balanced translocations of the three groups were 6.6% (23/350), 13.3% (17/128), 0 (P <0.05). There was no significant difference between the three groups in the rate of abortion and prenatal diagnosis of abnormal fetal termination of pregnancy (P> 0.05). (3) Of the 52 cases with congenital defects, 36 cases were alive (69%) and 16 cases (31%) were induced by prenatal diagnosis. 27 cases of congenital defects obtained cytogenetic diagnosis, the incidence of Down Syndrome was 59% (16/27). (4) A total of 40 normal or balanced translocation offspring were obtained from 39 couples in the translocation group and the non-homologous Robertsonian translocation group. The homologous Robertsonian translocation group had no normal or balanced translocation offspring. Prenatal cytogenetic diagnosis was obtained in 26 of 40 normal (or) balanced translocations, with 6 (23%) normal karyotypes and 20 (77%) balanced translocation karyotypes. Conclusion Chromosomal equilibrium translocation carriers have a high risk of spontaneous pregnancy. In particular, it is difficult for homologous Robertsonian translocators to obtain offspring with normal or balanced chromosome translocation.