孕中期Down’s综合征的筛查和诊断  

Screening and diagnosing Down's syndrome in the second trimester

作　　者：吕巍[1] 王树玉[1] 赵强[1] 贾婵维[1] 

机构地区：[1]首都医科大学附属北京妇产医院遗传诊断中心,100026

出　　处：《北京医学》2004年第3期161-164,共4页Beijing Medical Journal

摘　　要：目的　探讨建立完善孕中期筛查胎儿Down’s综合征的方法 ,增加其检出率 ,减少有创性产前诊断的盲目性。方法　应用酶联免疫吸附法 (ELISA)测定 2 1 2 4例孕中期 (1 4～ 2 0周 )妇女血清甲胎蛋白 (AFP)及 β绒毛膜促性腺激素 (β HCG)浓度 ;应用优生胜算软件综合评价妊娠Down’s综合征胎儿的风险度 ;应用羊水细胞培养方法明确诊断。结果　孕 1 4～ 2 0周孕妇血清AFP浓度随孕周的增加而增加 ,β HCG浓度随孕周的增加而迅速降低。1 6 8例 (7.91 % )为Down’s综合征高危妊娠 ,诊断Down’s综合征 3例 ,检出率 1 0 0 % ,筛查假阳性率 7.77%。结论　孕中期应用ELISA法联合筛查Down’s综合征切实可行。应注意孕周的核对以及筛查截断值的确定 。Objective To enhance the prenatal detection and screening of Down's syndrome in the second trimester.Methods Blood serum samples collected from pregnant women between 14 and 20 gestational weeks were measured for AFP and β HCG by ELISA, then the results were analyzed with Down's Syndrome Risk Calculator software to determine the fetal risk. For high risk cases,the amniocentesis was done for final diagnosis.Results Form July 2001 to July 2002,2124 pregnant women were screened for fetal Down's syndrome,ranging from 14 to 20 weeks.Their serum AFP levels rose along with gestational weeks,meanwhile their AFP levels declined sharply.168 (7.91%) women were considered at high risk.Three were diagnosed as trisomy 21.The detection rate was 100%,while the false positive rate was 7.77%.Conclusions During 14～20 weeks,maternal serum AFP level rises along with gestational weeks,whereas the β HCG level declines.It is feasible to screen Down's syndrome,using AFP/β HCG dual kit at this time.The screening test should be performed with regarding of the gestational weeks and proper cutoff value.

关 键 词：孕中期 Down’s综合征 血清筛查 孕周 

分 类 号：R714.5[医药卫生—妇产科学]