妊娠中、晚期超声筛查胎儿染色体三体的临床价值  

The Clinical Value of Ultrasonography Screening for Fetal Chromosomal Trisomyduring the Second and Third Trimesters

作　　者：潘玉萍[1] 蔡爱露[1] 王冰[1] 曹喆[2] 王晓光[1] 王岳平[3] 

机构地区：[1]中国医科大学附属盛京医院超声科,辽宁沈阳110004 [2]中国医科大学,辽宁沈阳110004 [3]中国医科大学附属盛京医院遗传室,辽宁沈阳110004

出　　处：《中国医学影像学杂志》2011年第8期630-635,共6页Chinese Journal of Medical Imaging

基　　金：国家科技支撑计划(2006BAI05A04)

摘　　要：目的探讨妊娠中、晚期超声筛查胎儿染色体三体的临床价值。资料与方法在妊娠中期和中晚期对产前诊断染色体有异常指征的3 297例孕妇行羊水或脐血穿刺术检查染色体核型,比较超声异常组、唐氏高危组、高龄孕妇组的染色体三体检出率为7.14%,并分析染色体三体与超声异常的关系。结果接受羊水穿刺并培养成功的3 110例孕妇中,检出染色体三体53例,染色体三体检出率为1.70%;3 110例孕妇中超声异常98例,其中检出染色体三体7例,染色体三体检出率为7.14%。超声异常组染色体三体检出率明显高于唐氏高危组1.15%(14/122 2()χ2=20.842,P<0.001)、高龄孕妇组0.73%(5/688)(χ2=23.489,P<0.001)。187例脐血染色体核型分析,检出染色体三体18例,染色体三体检出率为9.62%;187例孕妇中超声异常128例,检出染色体三体12例,染色体三体检出率为9.38%。结论超声筛查胎儿染色体三体既具有重要价值,又有一定的局限性,运用联合筛查的方法,可取长补短,提高染色体三体胎儿的检出率。Purpose To investigate the clinical value of ultrasonography screening for fetal chromosomal trisomy during the second and third trimesters. Materials and Methods Amniocentesis and cordocentesis were performed on 3 297 pregnant women with indications for prenatal diagnosis of chromosomal abnormalities during the second trimester and late pregnancy. The resultwas compared to 3 groups of patients： patients with ultrasonography abnormality, patients with high risk for Down＇s syndrome, and patients at advanced age. The relationship between ultrasonography abnormalities and confirmed chromosomal trisomy was also analyzed. Results Chromosomal karyotypes analysis was performed through amniocentesis in 3 110 pregnant women. A total of 53 chromosomal trisomy cases were detected with a detection rate of 1.70%. Ninety-eightout of 3 110 pregnant women showed ultrasonography abnormalities, of which 7 were found to have chromo somal trisomy （7.14%）. This detection rate （7.14%） was higher than the Down＇ s syndrome high risk group （1.15%, 14/1 222, x^2= 20.842, P 〈 0.001） and advanced age group （0.73%, 5/688, x^2=23.489, P 〈0.001）. In 187 pregnant women receiving chromosomal karyotype analysis through cordocentesis, 18 cases of chromosomal trisomy were detected and the detection rate was 9.62%. Of these 187 women, 128 showed ultrasonography abnormalities and 12 had chromosomal trisomy with detection rate=9.38%. Conclusion Ultrasonography is important in screening fetal chromosomal trisomy. Using combined screening methods can improve the detection of fetal chromosomal trisomy.

关 键 词：羊膜腔穿刺术 超声检查 产前 核型分析 三体性 

分 类 号：R714.55[医药卫生—妇产科学]