7380例介入性产前诊断临床分析

Clinic analysis of 7380 patients with invasive prenatal diagnosis

目的分析7380例介入性产前诊断胎儿检验流程与结果,评估介入性产前诊断的临床指征及价值。方法回顾性分析本产前诊断中心2011年1月至2016年6月孕妇资料,明确高危孕妇7380例,根据孕妇情况分别选择绒毛活检、羊膜腔穿刺或脐带血穿刺的介入性操作,标本均进行了细胞培养染色体核型分析或地贫基因检测。妊娠结局通过电话、分娩医院病历采集等方式随访。结果介入性产前诊断的指征包括高龄,唐氏筛查高风险,夫妇染色体异常,异常孕产史,超声检查异常,无创产前基因检测异常及夫妻同型地中海贫血基因携带。7259例介入性产前诊断受检者得到随访。697例检出染色体核型异常,806例检出地中海贫血基因异常,其中无创产前基因检测异常、夫妇染色体异常及超声检查异常的病例介入性产前诊断阳性的比例高于其他病例。567例染色体核型异常病例引产,220例地中海贫血病例引产。标本检查正常病例有12例发生操作相关性胎儿丢失,73例出现不明原因流产或死胎。结论介入性产前诊断安全有效,无创产前基因检测技术的进步可明显提高产前筛查的准确性,缩小介入性产前诊断的人群范围。

Objective：To evaluate the indication and value of invasive prenatal diagnosis based on the course of prenatal diagnostic management and clinical result. Methods：We performed a retrospective analysis of patients with invasive diagnosis from 2011.1 to 2016.6 in our center. The invasive procedure included chorionic villus sampling（CVS）,amniocentesis（AC）and fetal blood sampling（FBS）. The samples were used for karyotype test and thalassemia gene disorder detection. We followed up these patients through telephone or hospital′s record. Results：The usual indication for invasive procedure include increased maternal age,high score in Down′s screening,parents′ chromosome abnormality,abnormal miscarriage or birth,fetal abnormality according ultrasonography,abnormal result from Non-invasive prenatal test for fetal aneuploidy（NIPT）and carriers of thalassemia gene disorder. 7259 patients were followed after invasive procedure. 697 cases with chromosome abnormality and 806 cases with thalassemia were identified. More abnormal cases were identified in such patients with parents′ chromosome abnormality,fetal abnormality according ultrasonography and abnormal result from NIPT. 567 fetuses with chromosome abnormality and 220 fetuses with severe thalassemia were induced labored. 12 patients suffered with procedure-related fetal loss. And 73 fetuses suffered with miscarriage or intrauterine death with unknown causes. Conclusion：The invasive prenatal procedure is safe and effective. Development of NIPT could improve the accuracy of prenatal screening test and decrease the proportion of invasive prenatal diagnosis.