Testart J, Gautier E, Brami C, Rolet F, Sedbon E, Thebault A
Center for Reproductive Biology and Medicine, American Hospital of Paris, Neuilly, France.
Hum Reprod. 1996 Dec;11(12):2609-12. doi: 10.1093/oxfordjournals.humrep.a019179.
In the present study we investigated the results of cytogenetic analysis in male and female patients included in an intracytoplasmic sperm injection (ICSI) programme for severe male infertility as well as in conceptuses resulting from these ICSI treatments. In the 261 couples treated, 11 male (4.2%) and three female (1.2%) abnormal karyotypes were found, all consisting of structural chromosome anomalies. Chromosomal translocation exhibited the highest frequency (eight males and two females), and there were also three cases of chromosomal inversion (two males and one female) and one male with one additional marker chromosome. There was no difference in fertilization rates among couples with abnormal (n = 14) and normal (n = 147) cytogenetic results, and the rates of clinical pregnancy per ICSI attempt were 25.0% (5/20) and 20.6% (78/ 378) respectively. In pregnancies obtained in couples with normal karyotypes, all of the 108 fetuses were free of chromosomal abnormalities. Among the eight fetuses from couples with chromosome structural anomalies, three out of five and two out of three inherited from the cytogenetic defects found in their father or mother respectively. In this series of 83ICSI pregnancies there were no chromosomal abnormalities other than those inherited from the parents. These findings suggest that normal pregnancy rates can be obtained by ICSI in cases of chromosomal translocation in couples with severe male infertility. However, until further evaluations of available data can be performed, cytogenetic analysis must be conducted prior to ICSI in men with low sperm counts, and genetic counselling must include prenatal diagnosis for all growing conceptuses.
在本研究中,我们调查了因严重男性不育而接受胞浆内单精子注射(ICSI)治疗的男性和女性患者的细胞遗传学分析结果,以及这些ICSI治疗所产生的胚胎的细胞遗传学分析结果。在接受治疗的261对夫妇中,发现11名男性(4.2%)和3名女性(1.2%)存在异常核型,均为染色体结构异常。染色体易位的发生率最高(8名男性和2名女性),还有3例染色体倒位(2名男性和1名女性)以及1名男性带有一条额外的标记染色体。细胞遗传学结果异常(n = 14)和正常(n = 147)的夫妇之间的受精率没有差异,每次ICSI尝试的临床妊娠率分别为25.0%(5/20)和20.6%(78/378)。在核型正常的夫妇所获得的妊娠中,108例胎儿均无染色体异常。在染色体结构异常夫妇的8例胎儿中,5例中的3例和3例中的2例分别遗传了其父亲或母亲中发现的细胞遗传学缺陷。在这一系列83例ICSI妊娠中,除了从父母遗传而来的染色体异常外,没有其他染色体异常。这些发现表明,对于严重男性不育且存在染色体易位的夫妇,通过ICSI可以获得正常的妊娠率。然而,在能够对现有数据进行进一步评估之前,对于精子数量少的男性,必须在ICSI之前进行细胞遗传学分析,并且遗传咨询必须包括对所有发育中的胚胎进行产前诊断。