Zimmermann R, Schmid W, Binkert F, Achermann J, Huch R, Huch A
Klinik für Geburtshilfe, Universitätsspital Zürich.
Schweiz Med Wochenschr. 1995 Jul 1;125(26):1286-93.
Two years after introduction of maternal serum screening for Down's syndrome in German-speaking Switzerland, based on measurements of alpha-fetoprotein, unconjugated estriol and total beta-HCG, results were analyzed of the two cytogenetic laboratories in Zurich and of a separate collective of the Department of Obstetrics at the University of Zurich. In a total of 489 cases with increased risk for Down's syndrome (> or = 1:380 at term) 19 (1:26; approximately 4%) had an abnormal fetal karyotype from which 16 had a trisomy 21. 13 out of these 16 mothers were aged below 35 years. Thus, after ultrasound, maternal serum screening detects the highest percentage of fetuses with chromosomal abnormalities. At the Department of Obstetrics 2962 serum screening tests were performed during a period of 2 1/2 years. 14.6% of the women were > or = 35 years old, 7.6% showed increased risk and 14 fetuses had an abnormal karyotype including 10 with Down's syndrome. 7 of these 10 were detected by the serum test. Nevertheless, the limited sensitivity of serum screening, its limitation predominantly to detection of fetuses with Down's syndrome and the rather late stage of screening, make effective first trimester screening mandatory.
在德语区瑞士引入针对唐氏综合征的母血清筛查两年后,基于甲胎蛋白、游离雌三醇和总β-人绒毛膜促性腺激素的检测结果,对苏黎世的两个细胞遗传学实验室以及苏黎世大学妇产科的一个独立群体的结果进行了分析。在总共489例唐氏综合征风险增加(足月时≥1:380)的病例中,19例(1:26;约4%)胎儿核型异常,其中16例为21三体。这16位母亲中有13位年龄低于35岁。因此,除超声检查外,母血清筛查能检测出染色体异常胎儿的比例最高。在妇产科,2年半的时间里进行了2962次血清筛查检测。14.6%的女性年龄≥35岁,7.6%显示风险增加,14例胎儿核型异常,其中10例为唐氏综合征。这10例中的7例通过血清检测被发现。然而,血清筛查的敏感性有限,主要局限于检测唐氏综合征胎儿,且筛查阶段较晚,因此必须进行有效的孕早期筛查。