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目的探讨染色体异常与不良孕产史之间的关系,并分析异常染色体的检出率和类型,为优生遗传咨询提供临床参考依据。方法选取2011年1月~2013年12月在该院就诊的2 834对有不良孕产史的夫妇,对其行外周血染色体检查。结果 2 834对夫妇(5 668例)中,染色体异常检出817例,检出率为14.41%(817/5 668)。其中染色体多态633例,检出率为11.17%(633/5 668);常染色体异常140例,检出率为2.47%(140/5 668);性染色体异常36例,检出率为0.64%(36/5668);标记染色体8例,检出率为0.14%(8/5 668)。817例染色体异常患者中,习惯性流产或胚胎停育史527例,占64.50%(527/817);染色体异常儿孕产史198例,占24.24%(198/817);畸胎史60例,占7.34%(60/817);先天性疾病患儿孕产史17例,占2.08%(17/817);死胎死产14例,占1.71%(14/817);早产1例,占0.12%(1/817)。结论染色体异常是导致不良孕产史的重要遗传学因素,行染色体检查可以对有不良孕产史的夫妇行生育指导。
Objective To explore the relationship between chromosomal abnormalities and poor pregnancy history and to analyze the detection rate and types of abnormal chromosomes and to provide clinical reference for genetic counseling of eugenics. Methods A total of 2 834 couples with adverse pregnancy history from January 2011 to December 2013 were enrolled in this study. Their peripheral blood was examined by chromosomal examination. Results Among 2 834 couples (5 668), 817 cases of chromosomal abnormalities were detected, the detection rate was 14.41% (817/5 668). Chromosome polymorphism was found in 633 cases, with a detection rate of 11.17% (633/5 668); 140 cases of autosomal abnormalities (detection rate was 2.47% (140/5 668); 36 cases of chromosomal abnormalities, the detection rate was 0.64 % (36/5668). Eight chromosomes were detected, the detection rate was 0.14% (8/5 668). Of the 817 patients with chromosomal abnormalities, 527 were habitual abortions or embryos, accounting for 64.50% (527/817); 198 (84.24%) were pregnant with gestational chromosomal abnormalities (198/817), 60 were teratomas, Accounting for 7.34% (60/817). There were 17 cases of pregnancy history in children with congenital diseases, accounting for 2.08% (17/817). Stillbirths were still found in 14 cases (1.71%, 14/817) % (1/817). Conclusion Chromosomal abnormalities are the important genetic factors that lead to the history of adverse pregnancy. Chromosome examination can guide the couples with bad history of pregnancy.