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目的通过对高龄孕妇羊水细胞染色体核型分析,探讨高龄孕妇胎儿染色体异常的发生率。方法回顾性分析2008年1月~2014年3月在新疆乌鲁木齐妇幼保健院行妊娠中期羊膜腔穿刺术及羊水染色体核型分析的2442例高龄孕妇的病例资料,计算胎儿染色体异常的发生率。结果共检出76例胎儿染色体异常,发生率为3.12%,包括常染色体数目异常34例,其中21三体28例、18三体6例,性染色体数目异常(含嵌合体)8例,结构异常34例,其中倒位19例,易位14例,缺失1例,染色体多态97例,多态率3.97%。结论高龄孕妇胎儿染色体异常以13、18、21号染色体和性染色体数目异常为主,对高龄孕妇进行羊水细胞染色体核型分析能有效的诊断胎儿染色体病,是减少染色体异常胎儿出生的必要手段。
Objective To investigate the incidence of fetal chromosomal abnormalities in elderly pregnant women by analyzing the karyotypes of amniotic fluid cells in elderly pregnant women. Methods A retrospective analysis of 2442 cases of pregnant women with amniocentesis and amniotic fluid karyotype analysis during the second trimester of pregnancy in Urumqi Maternal and Child Health Hospital from January 2008 to March 2014 was performed to calculate the incidence of fetal chromosomal abnormalities. Results A total of 76 cases of fetal chromosomal abnormalities were detected, the incidence rate was 3.12%, including 34 cases with abnormal autosomal chromosome number. Among them, 28 cases were 21 trisomy 18, 6 cases trisomy 18 and 8 cases were abnormal chromosome number (including chimera) There were 34 cases of abnormalities, of which 19 cases were inverted, 14 cases were translocation, 1 case was missing, 97 cases were polymorphic and the polymorphism rate was 3.97%. Conclusions Chromosome abnormalities in the elderly pregnant women mainly focus on chromosomes 13, 18, 21 and the number of sex chromosome abnormalities. Chromosomal karyotypic analysis of amniotic fluid cells in elderly pregnant women can effectively diagnose fetal chromosomal diseases and is an essential measure to reduce the birth of fetuses with chromosomal abnormalities.