Ilnicka A, Pawłowska B, Czyzewska J, Głogowska I, Korlak J, Rodo M, Bieganowska K, Szirkowiec W, Zdzienicka E, Zaremba J
Zakładu Genetyki Instytutu Psychiatrii i Neurologii w Warszawie.
Neurol Neurochir Pol. 1996 Jan-Feb;30(1):65-75.
During the last 12 years 4258 amniocenteses were performed between the 12th and 20th week of gestation (including 323 early amniocenteses carried out before 15th week). In every case, cytogenetical examination was performed and concentration of AFP was determined. In cases with elevated AFP level electrophoresis of AchE izoenzymes was performed. The results of the tests enabled us to calculate laboratory standard values of AFP in the amniotic fluid for 12th to 20th weeks of gestation. In 22 of 44 pregnancies with Down's syndrome the value of AFP concentration was below the 25th percentile of the laboratory normal value. In 5 of 10 pregnancies with Edward's syndrome AFP level exceeded significantly the 75th percentile of the laboratory norm. In two cases it was due to coexisting spina bifida and in one case due to omphalocele. In 28 amniotic fluid samples AFP concentration exceeded normal level and electrophoresis of AchE revealed additional band. In 26 cases increased values of AFP were due to open neural tube defect in the fetus: 13 cases of anencephaly and 13 cases of spina bifida; in the remaining two other cases omphalocele was found.
在过去12年中，共进行了4258例妊娠12至20周期间的羊膜穿刺术（包括15周前进行的323例早期羊膜穿刺术）。每例均进行了细胞遗传学检查并测定了甲胎蛋白（AFP）浓度。AFP水平升高的病例进行了乙酰胆碱酯酶（AchE）同工酶电泳。这些检测结果使我们能够计算出妊娠12至20周羊水AFP的实验室标准值。44例唐氏综合征妊娠中有22例AFP浓度值低于实验室正常值的第25百分位数。10例爱德华兹综合征妊娠中有5例AFP水平显著超过实验室正常值的第75百分位数。2例是由于合并脊柱裂，1例是由于脐膨出。28份羊水样本中AFP浓度超过正常水平，AchE电泳显示有额外条带。26例AFP值升高是由于胎儿开放性神经管缺陷：13例无脑儿和13例脊柱裂；其余2例发现有脐膨出。
