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目的:探讨产前筛查对提高染色体病检出率的意义。方法:对1055例孕中期被筛查为21-三体、18-三体高危的孕妇取羊水进行细胞培养、染色体标本制备、核型分析。结果:分析1055例胎儿羊水细胞染色体核型,发现异常核型36例(占3.4%),其中947例21-三体高危者中,11例确诊为21-三体,检出率为1.16%;108例18-三体高危者中,7例确诊为18-三体,检出率为6.48%。结论:产前筛查可明确提高胎儿染色体病的产前检出率。
Objective: To explore the significance of prenatal screening to improve the detection rate of chromosome disease. Methods: 1055 pregnant women who were screened as 21-trisomy, 18-trisomy at the second trimester were taken into the cell culture, chromosome preparation and karyotype analysis. Results: The chromosomal karyotype of 1055 fetal amniotic fluid cells was analyzed. Among them, 36 cases (3.4%) were found with abnormal karyotype. Of the 947 cases with 21-trisomy, 11 cases were diagnosed as 21-trisomy, the detection rate was 1.16% Among the 108 cases with high risk of 18-trisomy, 7 cases were diagnosed as 18-trisomy and the detection rate was 6.48%. Conclusion: Prenatal screening can clearly increase the prenatal detection rate of fetal chromosomal diseases.