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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 analyze the procedure and result of fetus testing of 7380 interventional prenatal diagnosis to evaluate the clinical indications and value of interventional prenatal diagnosis. Methods A retrospective analysis of the prenatal diagnosis center from January 2011 to June 2016 pregnant women information, clear high-risk pregnant women 7380 cases, according to the situation of pregnant women were selected villus biopsy, amniocentesis or cord blood puncture interventional procedures, specimens were carried out Cell culture karyotype analysis or thalassemia gene test. Pregnancy outcome by telephone, childbirth hospital medical records and other means of follow-up. Results Indications for interventional prenatal diagnosis included high age, high risk of Down’s screening, chromosomal aberrations in couples, history of abnormal pregnancy, abnormalities in sonography, abnormalities of noninvasive prenatal genetic tests and carriage of couples with homophilic thalassemia genes. 7259 interventional prenatal diagnosis subjects were followed up. 697 cases were detected karyotype abnormalities; 806 cases of detection of thalassemia gene abnormalities; including non-invasive detection of prenatal genetic abnormalities, chromosomal abnormalities and ultrasound abnormalities in cases of interventional prenatal diagnosis was higher than the other cases. 567 cases of karyotype abnormalities induced abortion; 220 cases of thalassemia induced abortion. There were 12 cases of operation-related fetal loss in the normal specimen and 73 cases of unexplained abortion or stillbirth. Conclusion Interventional prenatal diagnosis is safe and effective. The progress of noninvasive prenatal genetic testing can significantly improve the accuracy of prenatal screening and narrow the population of interventional prenatal diagnosis.