中孕期唐氏综合征筛查的结果分析及策略探讨  

Results of second-trimester prenatal screening using two serum markers for Down＇s syndrome in 60 931 pregnant women

作　　者：蒋涛[1] 孙亦骏[1] 徐倩君[1] 孙云[1] 张晓娟[1] 曹荔[1] 查文[1] 张瑾[1] 黄美莲[1] 陈春华[1] 林远珊[1] 许争峰[1] 

机构地区：[1]南京医科大学附属南京妇幼保健院产前诊断中心,210004

出　　处：《中华围产医学杂志》2011年第2期74-77,共4页Chinese Journal of Perinatal Medicine

基　　金：南京市医学科技发展项目（ZKX08001）

摘　　要：目的探讨中孕期二联法产前筛查唐氏综合征（Down’s syndrome，DS）的有效性。方法回顾性分析1997年11月至2008年5月期间，在南京市妇幼保健院自愿接受采用时间分辨荧光免疫法检测血清甲胎蛋白（alpha-fetoprotein，AFP）＋游离β-绒毛膜促性腺激素（beta subunit of human chorionic gonadotropin，β-hCG）二联法产前筛查60931例孕妇中，妊娠结局为DS的50例孕中期（15～20^＋6周）筛查结果。结果50例DS妊娠中，以游离β-hCG≥2．5MoM为标准，DS共检出25例，检出率为50．0％，筛查阳性率为6．6％；以AFP≤0．5MoM为标准，共检出DS9例，检出率为18．0％，筛查阳性率为4．6％；当DS风险率高危切割值定为1／270时，检出率为52．0％，筛查阳性率为4．7％；如定为1／300时，DS检出率为62．0％，筛查阳性率为5．5％。风险值位于1／1000～1／300的DS妊娠共有13例，其中有2例单项指标异常。50例DS妊娠中经中孕期胎儿结构系统B超检查发现有一种或多种异常指标的共有13例，占26．0％，其中12例血清二联筛查结果为高风险，1例为低风险。结论AFP十游离β—hCG二联产前筛查可以有效检出DS妊娠，但特异性和敏感性均有待提高，结合单项指标异常可以增加DS妊娠检出率。中孕期胎儿结构系统B超检查对DS妊娠检出率较低，但可以提高血清学产前筛查的特异性和敏感性。Objective To approach the efficiency of second-trimester prenatal screening using two serum markers for Downrs syndrome （DS）. Methods Retrospective analysis was conducted on the results of prenatal screening using two serum markers, alpha fetoprotein （AFP） and free beta subunit of human ehorionic gonadotropin（free-β-hCG）, in 50 cases of DS pregnancy identified among 60 931 pregnant women received prenatal screening from November 1997 to April 2008 in Nanjing Maternal and Child Health Hospital. Results Among the 50 DS cases, the detection rate of DS was 50% （25/50） when taking free-β-hCG≥2.5 MoM as the cut-off, with the positive rate of screening was 6.6%. And the detection rate of DS would be 18.0%（9/25） when taking AFP≤0.5 MoM as the cut-off, with the positive rate of screening was 4.6%. When the risk cut-off value of DS was set at 1/270, the detection rate changed to 52.0%, and the positive rate of screening was 4. 7%; and the two figures changed to 62. 0% and 5. 5%, respectively, when the risk cut-off was set to 1/300. Thirteen DS cases showed the risk value between 1/1000 and 1/300, among which two were monomarker abnormality. Thirteen （26.0%） of the 50 DS fetus were found to have one or two abnormality markers by ultrasound scan, among which one was DS low risk, and the other 12 were DS high risk in serum screening. Conclusions The second-trimester prenatal screening using AFP or free β-hCG for Down＇s syndrome is effective in identifying DS pregnancy with limited specificity and sensitivity. But the detection rate can be elevated by the combination of these two markers. The second trimester systemic ultrasound scan is not ideal for DS identification, but it can increase the specificity and sensitivity of serum prenatal screening.

关 键 词：唐氏综合征 超声检查 产前 甲胎蛋白类 绒毛膜促性腺激素 Β亚单位 人 

分 类 号：R714.5[医药卫生—妇产科学]