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目的通过分析不同产前诊断指征下胎儿异常染色体的检出情况,评价不同产前诊断指征与胎儿异常染色体的相关性,以提高产前诊断的准确性。方法对广东清远地区630例孕妇的不同产前诊断指征与胎儿染色体异常及孕妇妊娠结局进行统计分析。孕16～28周有产前诊断指征的孕妇进行羊膜腔穿刺抽取羊水,进行细胞培养,G显带对染色体核型分析。结果 630例标本中异常核型检出率为5.4%,B超筛查胎儿异常孕妇染色体异常检出率为24.7%,其中脑部异常、心脏异常、腹壁缺损、多器官畸形、软指标异常、颈部淋巴管水囊肿者异常核型检出率分别为36.4%、25.0%、20.0%、33.3%、13.8%、50.0%;不良孕产史、高龄、21三体高风险、18三体高风险孕妇中胎儿染色体异常检出率分别为5.0%、3.2%、3.6%、2.2%。结论脑积液、心脏异常、腹壁缺损、多器官畸形、软指标异常、颈淋巴囊肿、高龄、不良孕产史、21三体高风险、18三体高风险均为产前诊断高危因素,羊膜腔穿刺进行羊水细胞染色体核型分析是一种非常有效的产前诊断方法。
Objective To analyze the detection of abnormal chromosomes of fetus under different prenatal diagnosis indications and to evaluate the correlation between different prenatal diagnosis indications and fetal abnormal chromosomes to improve the accuracy of prenatal diagnosis. Methods Six hundred and seventy pregnant women in Qingyuan of Guangdong province were analyzed with different prenatal diagnosis indications, fetal chromosomal abnormalities and pregnancy outcomes in pregnant women. Amniocentesis was performed by amniocentesis for amniocentesis in pregnant women with prenatal diagnosis indications from 16 to 28 weeks of gestation. Cell culture was performed and G-banding was used to analyze karyotypes. Results The detection rate of abnormal karyotype was 630 in 630 samples. The detection rate of chromosomal abnormalities in fetus with B-screening was 24.7%, including abnormal brain, abnormal heart, abdominal wall defect, multiple organ deformity, abnormal soft index, The detection rates of abnormal karyotypes in patients with cervical lymphatic water cyst were 36.4%, 25.0%, 20.0%, 33.3%, 13.8% and 50.0% respectively. The adverse pregnancy history, advanced age, trisomy 21 risk, The detection rate of fetal chromosomal abnormalities were 5.0%, 3.2%, 3.6% and 2.2% respectively. Conclusions The high risk of preecological diagnosis of hydrocephalus, abnormal heart, abdominal wall defect, multiple organ deformity, abnormal soft index, cervical lymphatic cyst, advanced age, poor pregnancy history, high risk of trisomy 21, Chorionic karyotype analysis of amniotic fluid cells is a very effective method of prenatal diagnosis.