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目的:通过羊水细胞染色体核型分析结果,探讨胎儿染色体异常特点及临床高危因素,进一步提高羊膜腔穿刺对胎儿异常染色体核型的检出率。方法:有产前诊断指征的1 331例孕妇行羊膜腔穿刺抽取羊水,通过羊水细胞培养、制片及G显带技术进行染色体分析。结果:全部病例穿刺均成功,共检出异常染色体核型44例,检出率为3.31%,其中以夫妇一方染色体异常为指征的异常染色体检出率显著高于高龄妊娠、21-三体综合征高风险及18-三体综合征高风险;以超声异常为指征的异常染色体检出率显著高于高龄妊娠、21-三体综合征高风险;以高龄妊娠为指征的染色体异常比例与18-三体综合征高风险和21-三体综合征高风险为指征的异常染色体比例差异无统计学意义。结论:孕妇血清学筛查异常、不良孕产史、超声异常是有效的穿刺指征,夫妇一方染色体异常胎儿及超声提示胎儿异常者对产前诊断提示胎儿染色体异常具有更好的预测性。
OBJECTIVE: To investigate the characteristics of fetal chromosomal abnormalities and clinical risk factors by the results of karyotype analysis of amniotic fluid cell chromosomes, and to further improve the detection rate of abnormal chromosomes and karyotypes of fetuses by amniocentesis. Methods: A total of 1 331 pregnant women with prenatal diagnosis of amniocentesis were selected for amniocentesis. Chromosomal analysis was performed by amniotic fluid cell culture, preparation and G banding technique. Results: All the cases were successfully punctured. A total of 44 cases of abnormal chromosome karyotype were detected, the detection rate was 3.31%. Among them, the detection rate of anomalous chromosomes indicated by the chromosomal abnormalities on one side of the couple was significantly higher than that of the elderly, 21- The high risk of syndrome and the high risk of 18-trisomy syndrome. The detection rate of abnormal chromosomes indicated by ultrasonic anomalies was significantly higher than that of old pregnancies and high trisomy 21 syndrome. Chromosomal abnormalities There was no significant difference in the proportion of abnormal chromosomes with high risk of trisomy 18 and high risk of trisomy 21. Conclusion: Serum screening abnormalities, poor pregnancy history and abnormal ultrasound are effective indications of puncture in pregnant women. One fetus with chromosomal abnormality and one with abnormal fetal ultrasound are better predictive factors for prenatal diagnosis of fetal chromosomal abnormalities.