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目的对阳性病例统计分析,以期对临床大夫掌握羊水诊断的指征有指导意义。方法回顾我院2016年1月-12月共1212例具有产前诊断指征行羊膜腔穿刺术的病例,分析不同产前诊断指征与胎儿染色体异常的关系。结果 1212例羊水标本共检测出异常核型71例,其中包括染色体数目、结构异常48例,染色体多态23例。异常检出率(不包括多态性)3.96%。不同穿刺指征的阳性检出率分别为无创DNA高风险组78.57%,夫妻一方染色体异常组62.50%,超声异常组5.19%,高龄孕妇组2.65%,唐氏筛查高风险组2.17%,不良孕产史组0%。结论 1、羊膜腔穿刺羊水细胞染色体核型分析仍然是诊断胎儿染色体异常的经典方法;2、无创DNA筛查准确率虽然很高,但是不能取代血清学唐氏筛查以及羊膜腔穿刺术;3、应慎重把握超声软指标行侵入性产前诊断的指征。
The purpose of statistical analysis of positive cases, with a view to clinicians to grasp indications of amniotic fluid has guiding significance. Methods A retrospective study of 1212 cases of amniocentesis with prenatal diagnosis in our hospital from January to December in 2016 was conducted to analyze the relationship between different prenatal diagnosis indications and fetal chromosomal abnormalities. Results A total of 71 cases of abnormal karyotypes were detected in 1212 cases of amniotic fluid samples, including 48 cases of chromosomal abnormalities, 23 cases of structural abnormalities and 23 cases of chromosomal abnormalities. Abnormal detection rate (excluding polymorphism) 3.96%. The positive rates of different puncture indications were 78.57% in noninvasive DNA high risk group, 62.50% in abnormal chromosome group of husband and wife, 5.19% in abnormal ultrasound group, 2.65% in elderly pregnant women group, 2.17% in Down’s screening high risk group, Maternal history group 0%. 2, noninvasive DNA screening accuracy, although high, but can not replace the serological Down’s screening and amniocentesis; 3, amniocentesis amniotic fluid cell karyotype analysis is still a classic method of diagnosis of fetal chromosomal abnormalities; , Should be careful to grasp the indications for invasive soft-tip ultrasound prenatal diagnosis.