论文部分内容阅读
目的分析总结7241例符合产前诊断指征孕妇所孕胎儿的染色体异常率,并探讨羊水穿刺对染色体疾病产前诊断的意义。方法对妊娠中期母血清唐氏征筛查高危,孕妇年龄>35岁,超声检查异常,或具有不良孕产史指征的孕妇提供羊水穿刺,对羊水细胞进行染色体核型分析,常规计数20个,分析5个核型,有异常者加倍计数和分析。结果发现染色体异常292例,异常率为4.03%;其中常染色体数目异常133例(检出率1.84%),性染色体数目异常21例(检出率0.29%),倒位88例,易位40例,其它异常10例。结论羊水细胞染色体核型分析是一种准确可靠的产前诊断方法,有产前诊断指征的孕妇应进行产前诊断。
Objective To analyze and summarize the chromosomal abnormalities of 7241 pregnant women who meet the prenatal diagnosis and to explore the significance of amniocentesis in prenatal diagnosis of chromosomal diseases. Methods The pregnant women with high risk of maternal serum Down Syndrome in the third trimester of pregnancy were enrolled in this study. Amniocentesis was performed in pregnant women> 35 years of age, with abnormal ultrasonography or indications of poor pregnancy history. Chromosome karyotype analysis was performed on amniotic fluid cells. Five karyotypes were analyzed, and those with abnormalities were double counted and analyzed. The results showed that chromosomal abnormalities in 292 cases, the abnormal rate was 4.03%; 133 cases of autosomal abnormalities (detection rate 1.84%), 21 cases of chromosomal abnormalities (detection rate 0.29%), 88 cases of inversion, translocation 40 Cases, other abnormalities in 10 cases. Conclusions Chromosome karyotype analysis of amniotic fluid cells is an accurate and reliable prenatal diagnosis method. Pregnant women with prenatal diagnosis indications should be diagnosed prenatally.