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目的探讨羊膜腔穿刺在产前诊断中的重要意义,了解染色体异常核型与产前诊断指征的关系。方法对2009年9月至2014年5月在云南省玉溪市妇幼保健院就诊的1350例有产前诊断指征的孕妇行羊膜腔穿刺术、羊水细胞培养、制备中期染色体、常规G显带、分析胎儿核型,进行产前诊断。结果在1350例孕妇中,检出胎儿染色体异常核型55例(不包括各种多态),检出率4.1%。主要以染色体数目异常为主,有46例,占83.6%(46/55),其中21-三体占41.8%(23/55);染色体结构异常9例,占16.4%(9/55)。在各种产前诊断指征中,染色体异常核型检出率为:夫妻一方染色体异常62.5%,超声异常8.2%,高龄孕妇3.9%,血清学筛查高风险3.6%。结论对具有产前诊断指征的孕妇行羊膜腔穿刺术是产前诊断的重要方法,同时结合孕母血清学筛查,孕妇年龄,B超检查等,可明显提高染色体病的检出率,对减少染色体患儿的出生和降低出生缺陷具有重要意义。
Objective To investigate the significance of amniocentesis in prenatal diagnosis and to understand the relationship between chromosomal aberration karyotype and prenatal diagnosis. Methods From September 2009 to May 2014, 1350 pregnant women with prenatal diagnosis indications for prenatal diagnosis in Yuxi Maternal and Child Health Hospital of Yunnan Province were enrolled in amniocentesis, amniotic fluid cell culture, metaphase chromosomes, routine G banding, Analysis of fetal karyotype, prenatal diagnosis. Results Among 1350 pregnant women, there were 55 cases of fetal chromosomal abnormalities (excluding all kinds of polymorphisms), the detection rate was 4.1%. The main number of chromosome abnormalities, 46 cases, accounting for 83.6% (46/55), of which 21- trisomy 41.8% (23/55); chromosomal abnormalities in 9 cases, accounting for 16.4% (9/55). Among the various prenatal diagnostic indications, the detection rate of chromosomal abnormalities was 62.5% on one side, 8.2% on ultrasound abnormalities, 3.9% on pregnant women and 3.6% on serological screening. Conclusions Amniocentesis is an important method of prenatal diagnosis for pregnant women with prenatal diagnosis indications. Combined with serum screening of pregnant women, age of pregnant women and B-ultrasound, the detection rate of chromosome diseases can be obviously increased, It is of great importance to reduce the birth and reduce the birth defects of children with chromosomes.