不同产前诊断指征的羊水细胞染色体核型分析

The 3 251 cases of amniotic cell karyotype analysis on different indication of antenatal diagnosis

目的分析海南地区不同产前诊断指征的孕妇羊水细胞染色体核型,探讨胎儿染色体异常核型与产前诊断指征的关系。方法选择2013年3月至2016年12月不同产前诊断指征到我中心就诊的3251例孕妇,在B超引导下进行羊膜腔穿刺术。后行羊水细胞培养及其胎儿染色体核型分析。结果3251例羊水细胞培养成功率为100%,核型分析成功率100%,共检出异常核型182例,占5.60%。其中,染色体三体异常138例,占异常核型的75.8%,以21三体为主,占数目异常的68.8%;结构异常34例,占异常核型的18.7%;嵌合体10例,占异常核型的6.60%。产前诊断指征中,NIPT高风险、B超胎儿多发畸形、唐氏筛查高风险、高龄、父母染色体异常及父母地贫携带的胎儿染色体异常检出率具有显著差异,且差异具有统计学意义(P<0.05)。结论对不同产前诊断指征的孕妇进行羊水细胞染色体核型分析,提高胎儿染色体病的诊断,对减少染色体异常胎儿的出生具有重要意义,从优生方面提高我国出生人口的素质。

Objective To discuss the relationship between the chromosomal abnormal karyotype and the indication of antenatal diagnosis,by analyzing the karyotype of amniotic cells of the pregnant women with different indication of antenatal diagnosis.Methods To perform Amniocentesis under the B-ultrasonic guidance and then conduct the Amniotic cell culture and karyotype analysis,from the 3251 cases of pregnant women with different indication of antenatal diagnosis,who came to our center from March 2013 to December 2016.Results The success rates of amniotic cell culture and karyotype analysis were both up to 100%,with 182 cases of abnormal karyotypeswith the rate of 5.6%.Among the abnormal cases,138 cases were chromosome trisomy abnormality with the ratio of 75.8%,95 cases of trisomy 21 with the ratio of 68.8%;and 34 cases of structure abnormality with the ratio of 18.7%;10 cases of chimera abnormality with the ratio of 6.6%.In the prenatal diagnosis indication,with the positive NIPT results,anomalies identified on ultrasound,positive Down′s screening results,advanced maternal age,known family history of chromosome disorders and thalassemiacarrier or not,the rate of chromosomal abnormal karyotype is significantly different in this two groups(P<0.05).Conclusion It has great significance to analyze the amniotic cell karyotype of the pregnant women with different indication of antenatal diagnosis,to diagnose the chromosomal disease objectively,decrease the birth rate of chromosomal abnormal fetus and improve the population quality from the aspect of prepotency.