1191例不良妊娠史夫妇的细胞遗传学分析

摘要

Objective Toexploretherelationshipofchromosomeanomalyandpolymorphismwithadverse pregnancy outcomes. Methods Cytogenetic data for 1 191 couples with adverse pregnancy outcomes who visited Sichuan Provincial Hospital for Women and Children during August 2008 to March 2013 were reviewed and analyzed.Peripheral blood lymphocyte culture and harvest were performed according to standard methods. Karyotypes were analyzed by G-banding in all cases and C- banding in some cases. Results Of the 1 191 cases examined,forty-four cases had abnormal chromosome (3.7%)and 145 cases had polymorphic variations (12.2%).Chromosome polymorphic variations accounted for 76.7% of all chromosome karyotypes.Among them,84 cases showed D/G set with body variant,36 cases had increases in secondary constriction, 8 cases had increased satellite, 7 cases showed inversion of the ninth chromosomes,7 case had large Y chromosome,2 cases showed inversion of the Y chromosomes,and 1 case had X chromosome with body variant. Conclusion Chromosome anomalies were common among couples with repeated spontaneous abortion,embryo arrest,stillbirth,and fetal or infant malformations.%目的：对不良妊娠史夫妇染色体核型进行临床分析，探讨染色体异常和多态性与不良妊娠史的关系，为遗传咨询和产前诊断提供指导和参考意见。方法选择2008年8月-2013年3月来四川省妇幼保健院就诊的有不良妊娠史的夫妇1191例，收集外周血，培养淋巴细胞，常规收获制片，G显带处理，必要时加C带分析，染色体核型分析。结果1191例不良妊娠史夫妇中检出染色体异常44例，异常率为3.7％；多态性变异145例，检出率为12.2％，占异态与异常总数的76.7％；其中D/G组随体延长84例，次缢痕增加36例，短臂增长8例，9号染色体臂间倒位7例，大Y染色体7例，Y染色体倒位2例，X染色体短臂随体增加1例。结论染色体异常是导致反复自然流产、胚胎停育、生育死胎、畸胎和异常儿的重要影响因素，而染色体多态性变异也应引起重视，对于不明原因的不良妊娠史的夫妇，染色体分析应作为常规的检测。