摘要
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。
Objective： To guide the clinical doctors grasping the indications through chromosome analysis the positive cases. Methods： 1212 cases who had the prenatal diagnosis indications and do prenatal diagnosis in our hospital from January 2016 to December 2016 were reviewed, to study the relationship between different prenatal diagnosis indications and fetal chromosomal abnormalities. Results： There were 71 cases of abnormal chromosome karyotype in 1212 cases, including 48 cases of abnormal in numbers or structure, 23 cases of chromosome polymorphism. The detection rate was 3.96% （do not including chromosome polymorphism） . The detection rates in different indications were- 78.57% in NITP high risk group; 62.50% in either mother or father with abnormal chromosome carders group; 5.19% in pathological ultrasound findings group; 2.65% in advanced maternal age group; 2.17% in maternal serum screening tests group; 0% in the histories of abnormal pregnancy group. Conclusion： First, amniocentesis combined with karyotype analysis is still the classic method for prenatal diagnosis of fetal chromosomal diseases; second, despite the high accuracy rate of NITP, it can neither replace the, maternal serum screening tests, nor the amniocentesis. Third, clinical doctors should be carefully grasp the indications in pathological ultrasound findings.
出处
《中国优生与遗传杂志》
2017年第7期49-50,53,共3页
Chinese Journal of Birth Health & Heredity
关键词
产前诊断
羊水细胞
染色体核型分析
Prenatal diagnosis
Amniotic flaid cells
Chromosomal karyotype analysis
