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目的:采用血清三联[甲胎蛋白(AFP)、游离雌三醇(uE3)、总β人绒毛膜促性腺激素(Total-βHCG)]筛查19 730名孕中期妇女,以探讨三联筛查对唐氏综合征和18三体综合征诊断的临床价值。方法:检测2008年5月至2010年4月间19 730名单胎孕中期妇女的血清AFP、uE3、Total-βHCG水平,取其中位数倍数(multiple of median,MoM),并结合孕妇体重,计算胎儿发生唐氏综合征及18三体综合征的风险率。根据唐氏综合征和预期分娩年龄(expected date of delivery,EDD)为35.5岁时的自然发生率约为1∶380,本研究将唐氏综合征三联筛查的临界值(cut-off)设定为1∶380,将18三体综合征筛查的临界值设定为1∶334。对风险率大于临界值的孕妇行羊水细胞染色体分析。结果:19 730名孕妇中,唐氏综合征风险率大于临界值者有1 130名,阳性率为5.73%,对1 130名唐氏综合征风险率大于临界值的孕妇进行羊水细胞染色体核型分析,发现有6例胎儿为唐氏综合征,其中EDD<35.5岁以下者有4例;唐氏综合征三联筛查风险率小于临界值的18 600名孕妇中共产下4例唐氏综合征患儿,假阴性率为40.0%(6例检出,4例漏检),其中EDD<35.5岁的孕妇有3例;18三体综合征筛查风险率大于临界值者有102名,占0.52%,经羊水细胞染色体核型分析,结果有3例胎儿为18三体综合征,18三体综合征筛查阴性的孕妇中无18三体综合征患儿出生。结论:孕中期行血清三联(AFP、uE3、Total-βHCG)筛查,对于EDD<35.5岁的孕妇有较高的胎儿唐氏综合征和18三体综合征筛出率,但也漏检了3例EDD<35.5岁的孕妇。对于漏检孕妇的数据进行回顾分析可发现,75%的漏检孕妇筛查结果提示风险率大于1∶1 000,而如血清三联筛查采用临界值为1∶700,则能使将检出唐氏综合征胎儿数提高到9例。
OBJECTIVE: To screen 19 730 second-trimester women by triple triple immunofluorescence assay (AFP), free estriol (uE3) and total β-human chorionic gonadotropin (Total-βHCG) Down’s syndrome and trisomy 18 diagnosis of clinical value. Methods: The serum levels of AFP, uE3 and Total-βHCG in 19 730 singleton pregnant women from May 2008 to April 2010 were measured. The multiple of median (MoM) and the body weight of pregnant women were calculated Fetal Down Syndrome and trisomy 18 risk. According to Down’s syndrome and the expected date of delivery (EDD) of 35.5 years of age the natural incidence of about 1: 380, the study will triple the Down’s syndrome screening cut-off set Set at 1: 380, the threshold for the 18 Trisomy screening was set at 1: 334. Chromosome analysis of amniotic fluid cells in pregnant women with risk ratio greater than the critical value. Results: Of the 19 730 pregnant women, 1130 had a risk of Down Syndrome greater than the critical value, with a positive rate of 5.73%. A total of 1 730 pregnant women with Down’s syndrome risk greater than the threshold value were used for amniotic fluid cell karyotype Analysis found that 6 fetuses were Down Syndrome, of which EDD <35 years of age in 4 cases; Down’s syndrome triple screening risk rate of less than the critical value of 18 600 pregnant women co-produced four cases of Down Syndrome In the children, the false-negative rate was 40.0% (6 cases were detected, 4 cases were undetected), of which 3 cases were pregnant women with EDD <35.5 years old and 102 cases with risk of trisomy 18 screening greater than the critical value 0.52%, by amniotic fluid chromosome karyotype analysis, the results of 3 cases of fetal trisomy 18, 18 trisomy syndrome negative pregnant women without trisomy 18 were born. CONCLUSIONS: Trimester screening (AFP, uE3, Total-βHCG) during the second trimester has a higher fetal Down’s syndrome and trisomy 18 screening rate for pregnant women with EDD <35.5 years of age but also undetected Three pregnant women with EDD <35.5 years old. A retrospective analysis of missed pregnancy data found that 75% of undetected pregnancies showed a risk of> 1: 1,000, whereas a cut-off of 1: 700 for triple-trimester screening would allow detection of Down’s syndrome fetuses increased to 9 cases.