270例羊膜腔穿刺术产前诊断指征及结果分析

Analysis on the Indications and results of amniocentesis in 270 cases

目的分析羊膜腔穿刺术产前诊断指征及检出率,探讨提高产前筛查和产前诊断准确率的路径。方法收集本院产前诊断中心近三年筛查咨询后270例行羊膜腔穿刺术胎儿染色体核型分析病例,对其产前诊断指征及检出率进行分析。结果 270例羊膜腔穿刺术中,最常见的三大指征为血清学三联筛查高风险(36.3%)、无创产前检测高风险(28.2%)及超声检查异常(18.5%)。其阳性检出率由高至低依次为:无创产前检测高风险(61.8%)、夫妻一方患病或染色体异常(33.3%)、超声检查异常(22.0%)、不良孕产史(5.6%)及血清学三联筛查高风险(5.1%)。结论无创产前检测是筛查胎儿染色体异常最有效的路径,高风险孕妇必须行侵入性产前诊断以确诊;血清学三联筛查和超声检查是最常用的筛查路径,联合筛查可有效提高胎儿染色体异常检出率,高风险者充分咨询后建议行侵入性产前诊断。单纯高龄不作为产前诊断独立指征,若合并血清学筛查高风险或超声异常建议行侵入性产前诊断。

Objective The indication and positive rate of karyotype of amniocentesis in our hospital were analyzed, and how to improve the accuracy rate of prenatal screening and prenatal diagnosis was discussed. Methods Analysis of prenatal diagnosis and detection rate of fetal chromosome karyotype analysis in 270 cases of amniocentesis in our hospital. Results In the 270 cases of amniocentesis, the most common three puncture indications were serological triple screening(36.3%), high risk of NIPT(28.2%) and pathological ultrasonography findings(18.5%). The positive detection rate from high to low is:high risk of NIPT(61.8%), parental translocation or marker chromosome carriage(33.3%), pathological ultrasonography findings(22.0%), adverse pregnancy history(5.6%) and serological screening(5.1%). Conclusion NIPT is the most effective path screening for fetal chromosomal disease, high risk pregnant women must be diagnosed with invasive prenatal diagnosis. Serological triple screening and ultrasound examination are the most commonly used screening paths. Combined screening can effectively improve the detection rate of fetal chromosomal diseases, high risk full consultation after suggestions for invasive prenatal diagnosis. An independent indication of prenatal diagnosis is not an advanced age pregnant women, and invasive prenatal diagnosis is suggested if the high risk of serological screening or abnormal ultrasound is recommended.