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目的对不同诊断指征的羊水细胞染色体核型进行分析。方法对在本院接受产前诊断的4496例孕中期的孕妇进行羊膜腔穿刺,羊水细胞培养并核型分组分析。结果染色体异常检出率为6.94%,携带者组异常检出率最高,达40%(2/5)。各年龄组中,异常核型检出率最高为<25岁组,检出率11.28%(67/594),三体检出率最高为>40岁组,检出率2.03%(8/394),经遗传咨询57例孕妇选择终止妊娠,255例孕妇选择继续妊娠。结论对异常核型的高发组要进一步宣教,提高产前诊断率和异常核型检测率,提高出生人口素质。染色体病是导致出生缺陷的重要原因,目前还无法对染色体病进行特异性治疗,对孕妇进行产前诊断是预防出生缺陷主要手段,本文通过对不同穿刺人群的羊水细胞染色体核型进行分析,探讨染色体病的分布情况,为临床提供依据。
Objective To analyze the karyotypes of amniotic fluid cells with different diagnostic indications. Methods 4496 pregnant women of the second trimester receiving prenatal diagnosis in our hospital were subjected to amniocentesis, amniotic fluid cell culture and karyotype analysis. Results The detection rate of chromosomal abnormalities was 6.94%. The highest detection rate of abnormalities was found in carriers group (40%) (2/5). In all age groups, the highest detection rate of abnormal karyotype was <25 years old, the detection rate was 11.28% (67/594), the highest detection rate of trisomy was> 40 years old, the detection rate was 2.03% (8/394) , 57 cases of pregnant women after genetic counseling choose termination of pregnancy, 255 cases of pregnant women choose to continue pregnancy. Conclusions The high incidence of abnormal karyotype should be further missionary, to improve the rate of prenatal diagnosis and abnormal karyotype detection rate, improve the quality of birth population. Chromosome disease is an important cause of birth defects. At present, no specific treatment for chromosomal disease is available. Prenatal diagnosis of pregnant women is the primary means of preventing birth defects. In this paper, we analyzed the karyotype of amniotic fluid cells in different puncture populations, Chromosome disease distribution, provide the basis for clinical.