不同产前诊断指征孕妇羊水细胞基因芯片结果分析

The results of different prenatal diagnosis of amniotic fluid cells were analyzed

目的探讨基因芯片在不同产前诊断指征中的应用价值。方法选择226例不同产前诊断指征孕中期孕妇羊水标本,提取DNA,进行基因芯片检测。结果226例羊水细胞羊膜腔穿刺术成功率100%,基因芯片技术检测成功率100%。不同产前诊断指征异常检出率及阳性诊断率有差异,其中NIPT高风险异常检出率较高(34.5%),产前筛查高风险异常检出率较低(14.5%)。同时本研究发现阳性诊断率为8.8%,其中NIPT高风险阳性诊断率最高(31%),超声异常阳性诊断率为10%,产前筛查高风险阳性诊断率较低(1.4%)。结论正确把握产前诊断指征,恰当运用基因芯片技术,可提高胎儿染色体异常检出率,避免染色体病患儿出生。

Objective:To explore the application value of gene chip in different prenatal diagnosis.Methods:A total of 226 patients with different prenatal diagnosis were selected to identify the samples of amniotic fluid in the middle of pregnancy,to extract DNA and to carry out gene chip detection.Results:The success rate of amniocentesis was 100%,and the success rate of gene chip was 100%.Different prenatal diagnosis indicated abnormal detection rate and positive diagnosis rate,among which,NIPT had a higher detection rate of high-risk abnormality(34.5%),and prenatal screening of high-risk abnormal detection rate was lower(14.5%).At the same time,the positive diagnosis rate was 8.8%,among which NIPT high-risk positive diagnosis rate was the highest(31%),and the diagnostic rate of ultrasonically positive diagnosis was 10%,and the high-risk positive diagnosis rate of prenatal screening was low(1.4%).Conclusion:The proper use of prenatal diagnostic indications and proper use of gene chip technology can improve the detection rate of fetal chromosome abnormality and prevent the birth of children with chromosomal diseases.