目的探讨采用超声联合血清标志物检测对21-三体综合征筛查的临床意义。方法回顾性分析2014年1月至2016年3月在本院进行产前超声检查、血清标志物检测且接受产前诊断的2 281例孕妇的临床资料，所有孕妇均为超声异常和（或）血清生化产前筛查提示21-三体综合征高危，比较产前超声检查、血清标志物检测这两种方法单独及联合应用时对21-三体综合征的检出率。结果2 281例接受产前诊断的孕妇中经胎儿染色体核型分析确诊为21-三体综合征胎儿68例，检出率2.98%（68/2 281）。2 281例胎儿中单独超声检查异常879例，检出21-三体综合征27例，检出率3.07%（27/879）；单独血清学21-三体综合征高风险1 336例，检出21-三体综合征34例，检出率2.54%（34/1 336）；超声异常合并血清学21-三体综合征高风险66例，检出21-三体综合征7例，检出率10.61%（7/66）。超声异常合并血清学21-三体综合征高风险检出率较单项指标检出率高，差异有统计学意义（P〈0.01）。结论超声联合血清学标志物检查在21-三体综合征的筛查中具有较好的临床应用价值。
Objective To investigate the clinical significance of ultrasonography combined with scrological detection in the screening of trisomy 21.MethodsThe clinical data of 2 281 pregnant women who have received prenatal ultrasound examination, scrological detection and prenatal diagnosis in our hospital from January 2014 to March 2016 were retrospectively analyzed. All the fetuses had ultrasound abnormal or/and 21-trisomy syndrome high risk with scrological detection. The detection rate of trisomy 21 was observed when ultrasonography combined with scrological detection. The detection rate was compared between the two methods respectively.ResultsAmong 2 281 pregnant women who received prenatal diagnosis, 68 fetuses with trisomy 21 were diagnosed by fetal karyotype, the detection rate was 2.98% 68/2 281 ; There were 879 cases of merely ultrasound abnormal, 27 of them were trisomy 21, the detection rate was 3.07% 27/879 ; 1 336 cases were merely high risk of 21-trisomy syndrome, 34 of them were trisomy 21, the detection rate was 2.54% 34/1 336 ; There were 66 cases of both ultrasound abnormal and 21-trisomy syndrome high risk, 7 of them were trisomy 21, the detection rate was 10.61% 7/66 . The method of joint use is higher than the independent method, with statistically significant difference P 0.05 .ConclusionsUltrasonography combined with scrological detection have good application value in the screening of trisomy 21 syndrome.
Journal of Chinese Physician