【摘要】 [背景]探讨孕中期唐氏综合征产前筛查的方法及影响其风险值的主要因素.[病例报告]采用全自动化学发光免疫分析仪检测950例孕14～20周孕妇血清甲胎蛋白(AFP)、游离雌三醇(UE3)及人绒毛膜促性腺激素β亚单位( βHCG)值，应用美国贝可蔓公司提供的软件对AFP，UE3,βHCG值进行风险分析，以风险比1∶380为切割点，判断950例孕中期胎儿的风险情况.风险比高于1∶380以上者为10例，其中5例进行了羊水穿刺，经染色体核型分析确诊1例，待分娩后确诊其余胎儿均为阴性,在高危孕妇中阳性率为10.0%.[讨论]上述3个指标联合筛查为较理想的产前唐氏综合征筛查模式.
【关键词】 唐氏综合征;绒毛膜促性腺激素;甲胎蛋白类;β亚单位
Clinical analysis of the combined screening of AFP, UE3, βHCG on diagnosis for the Down syndrome at the second trimester of pregnancy
JIN Yingzi, PIAO Xianglan, NAN Qiyan, LIU Lili, WANG Ying, YIN Hua
(Department of Gymaecology and Obstetrics, Affiliated Hospital of Yanbian University, Yanji 133000, Jilin, China)
ABSTRACT:BACKGROUNDTo study the method of prenatal screening for Down syndrome at the second trimester of pregnancy and main factors of affecting its valueatrisk.CASE REPORTSThe value of AFP , UE3, βHCG in serum of 950 cases of pregnant women at 14～20 weeks were detected by the automated Chemiluminescence Immunoassay System, and the valueatrisk was analyzed by using analytical software provided from Beckman Corporation in America. The riskrate was 1∶380 as the cutoff point to analyze risk status in 950 cases of second trimester fetuses.10 of second trimester fetuses were over 1∶380 risk rate, in which 5 cases were performed amniocentesis and 1 case was diagnosed to the Down syndrome by karyotype analysis of chromosome in amniotic fluid, the other 5 cases refused invasive procedures, but diagnosed negative after childbirth, and positive rate was 10.0%.DISCUSSIONThe combined screening of AFP, UE3, βHCG in serum is ideal prenatal screening model of diagnosis for the Down syndrome.
Key words:Down syndrome;alphafetoproteins;chorionic gonadotropin,beta subunit,human
唐氏综合征是最先被确定的染色体病，1959年由Lejeune等首次报道，近年来发病率呈上升趋势.本病患儿智商低，常合并心脏畸形，且患儿抵抗力较弱，到目前为止尚无较好的治疗方法和预防措施.孕妇年龄达到或超过35岁后，随着孕妇年龄的增大，其胎儿患唐氏综合征的概率明显增加[1].本病最终诊断方法为绒毛穿刺或羊水穿刺等侵入性操作进行胎儿细胞染色体核型分析，但具有流产及引发感染等风险.20
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