2 860例不同产前诊断指征的羊水细胞染色体检查结果及高危因素分析

The 2 860 cases of amniotic cell karyotype analysis on different indication of antenatal diagnosis

摘要:

目的 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2019年1月至2019年12月不同产前诊断指征到重庆医科大学附属妇女儿童医院妇产科就诊的2 860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胎儿染色体核型分析。结果 2 860例孕妇羊水中因细胞过少及活力不足培养失败109例，细胞培养成功2 751例，成功率为96.2%。共检出染色体多态性119例，检出率4.33%；共检出异常核型 153例，检出率5.56%。其中，染色体数目异常66例，占异常核型的43.1%；染色体结构异常59例，占异常核型的38.6%；嵌合体28例，占异常核型的18.3%。产前诊断指征中，父母一方染色体异常的胎儿染色体异常检出率最高，为32.93%；其次是无创产检基因检测（non invasive prenatal testing，NIPT）高风险，异常检出率为28.99%。非单纯高龄≥40岁组异常核型检出率显著高于非单纯高龄35~39岁组，同时显著高于单纯高龄≥40岁组。结论 孕妇羊水细胞染色体核型分析可为产前诊断和优生优育咨询提供理论参考。

Abstract:

Objective To discuss the relationship between the chromosomal abnormal karyotype and the 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 2 860 cases of pregnant women with different indication of antenatal diagnosis，who came to the Department of Obstetrics and Gynecology，Woman and Children's Hospital of Chongqing Medical University from January 2019 to December 2019.Results The success rates of amniotic cell culture were 96.2%. Total 119 chromosomal polymorphisms cases were detected with 4.33% ratio and 153 cases were abnormal karyotypes with detection rate of 5.56%，among which the ratio of numerical abnormality was 43.1%（66/153），the ratio of abnormal structure was 38.6%（59/153），and the ratio of chimera abnormality was 18.3%（28/153）. In the prenatal diagnosis indication，the detection rate of known family history of chromosome disorders was highest（32.93%），and secondly was that of NIPT（non invasive prenatal testing）（28.99%）. Chromosomal abnormal karyotype detection rate in very advanced maternal age（≥40） with other prenatal diagnosis indication was significantly higher than that of in advanced maternal age（35-39） with other prenatal diagnosis indication and in very advanced maternal age（≥40） without other prenatal diagnosis indication.Conclusion Chromosome karyotype analysis of amniotic cells in pregnant women can provide theoretical reference for prenatal diagnosis and prenatal consultation.