928例孕中期羊水细胞染色体核型分析

目的评价产前诊断指征在胎儿染色体病诊断中的意义。方法对940例妊娠中期孕妇行羊膜腔穿刺术抽羊水进行羊水细胞染色体核型分析。结果940例孕妇羊水培养成功928例,成功率98.72%。发现异常核型26例,占2.80%。其中,各类三体11例占42.31%,为最主要的异常核型。高龄(≥35岁)孕妇胎儿染色体数目异常的检出率为1.94%(6/310),明显高于非高龄孕妇胎儿0.65%(4/618)的检出率(P=0.037)。另外,35岁以下唐氏筛查高风险者胎儿确诊阳性率为0.69%(3/432),远远高于普通人群水平。结论合理应用产前诊断指征可以明显提高染色体病的产前诊断效力。

Analysis on Karyotypes of Amniotic Fluid Cells from 928 Fetuses during the Second Trimester of Gestation

Objective To evaluate the significance of the prenatal diagnosis indications for prenatal cytogenetic diagnosis. Methods Fetal chromosomal karyotypes were examined in 940 pregnant women by amniocentesis. Results 928 cases were cultured successfully in 940 cases with the successful rate of 98.72%. It was shown by karyotype analysis that 26 fetuses(2.80 %) were found with abnormal karyotype,and 42.31% of which were trisomy. The risk(1.94%,6/310) of the fetus with abnormal number of chromosome in the pregnant women aged over 35 years was higher than that(0.65%,4/618)in the pregnant women aged under 35 years(P = 0.037). The determination rate(0.69%,3/432) of the fetus with high risk for 21-trisome in the pregnant women aged under 35 years was higher markedly than that in common population. Conclusion The effectiveness for prenatal cytogenetic diagnosis can be increased with proper application of prenatal diagnosis indications.