Sperm aneuploidy and recurrent pregnancy loss
Sperm aneuploidy and recurrent pregnancy loss
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DOI：
10.1016/s1472-6483(10)62147-5
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发表时间：
2004-09-01
影响因子：
4
通讯作者：
Ragni, N
中科院分区：
文献类型：
--
作者：
Bernardini, LM;Costa, M;Ragni, N
对20对三次及以上妊娠早期反复流产的夫妇的精子样本分别进行了1-17、8-18染色体和性染色体的双靶原位杂交实验。对于本研究人群的一个子集，基于流产组织核型的可用数据，对染色体4、7、12、13、15、18、21和22进行了额外的多色荧光原位杂交实验。只有两例精子畸形率明显高（14.5-15.5%）。另外3例患者，1、17、8、18、X和Y染色体的累积二体率也有所增加，但水平较低（7.8-9.5%）。其余15例患者，精子非整倍体的频率中度增加或正常。复发性妊娠丢失（RPL）和精液质量差的男性精子基线非整倍体和二倍体率高于精液参数正常（有或没有RPL）的男性。使用探针检测1、17、8、18、X和Y染色体，在10%有RPL病史的男性中发现精子非整倍体（非二倍体）的频率显著升高。精子非整倍体率为30-34%。对于其他男性，精子非整倍体的变化被认为不会影响RPL。精液质量差本身对精子非整倍体和二倍体产生负面影响，从而使临床数据的解释更加困难。
Experiments of double target in-situ hybridization were performed separately for chromosomes 1-17, 8-18 and sex chromosomes on sperm samples from 20 couples suffering from three or more recurrent first trimester abortions. For a subset of this study population, additional experiments of multicolour fluorescence in-situ hybridization for chromosomes 4, 7, 12, 13, 15, 18, 21, and 22, were performed on the bases of the available data from abortive tissue karyotyping. A markedly high rate of sperm disomy (14.5-15.5%) was scored in only two cases. For three other patients, the cumulative disomy rates for chromosomes 1, 17, 8, 18, X and Y also increased but at a lower level (7.8-9.5%). For the remaining 15 patients, the frequency of sperm aneuploidy was moderately increased or normal. Men with recurrent pregnancy loss (RPL) and poor semen quality had baseline sperm aneuploidy and diploidy rates higher than men with normal semen parameters (with or without RPL). Using probes for chromosomes 1, 17, 8, 18, X and Y, significantly elevated frequencies of sperm aneuploidy (not diploidy) were found in 10% of men with a history of RPL. Their rate of sperm aneuploidy was 30-34%. For the other men, changes in sperm aneuploidy were not thought to affect RPL. Poor semen quality per se impacted negatively on sperm aneuploidy and diploidy, thus making the interpretation of clinical data more difficult.