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目的分析孕中期羊水染色体核型异常检出率及异常类型。方法以2010—2015年在湖州市妇幼保健院行羊水穿刺染色体核型分析的4 362名孕妇为研究对象,采集羊水进行细胞培养,分析其染色体核型。结果羊水细胞培养成功4 358份,检出染色体异常核型147例,检出率为3.37%,其中染色体数目异常74例,以21-三体为主(21.77%);染色体结构异常71例,以倒位为主(18.37%);嵌合体2例。染色体异常检出率与孕妇年龄、是否经产妇和胎儿性别不相关(均P>0.05)。结论对于具有不同产前诊断指征的孕妇建议开展羊水细胞染色体核型检测,可有效控制和减少新生儿出生缺陷的发生。
Objective To analyze the detection rate and abnormal type of amniotic fluid karyotype in the second trimester of pregnancy. Methods A total of 4 362 pregnant women who underwent amniocentesis in Huzhou MCH from 2010 to 2015 were selected as the research objects. Amniotic fluid was collected for cell culture and analyzed for their karyotypes. Results A total of 4 358 cases of amniotic fluid cells were cultured successfully. 147 cases of chromosomal abnormalities were detected, the detection rate was 3.37%, of which 74 cases were abnormal chromosomes, 21.77% were 21-trisomy, 71 cases were chromosomal abnormalities, Inverted mainly (18.37%); chimerism in 2 cases. The detection rate of chromosomal abnormalities was not related to the age of pregnant women and whether they were related to maternal and fetal sex (all P> 0.05). Conclusion It is suggested that the detection of karyotype of amniotic fluid chromosome in pregnant women with different prenatal diagnosis indications can effectively control and reduce neonatal birth defects.