Tóth A, Hajdu K, Intödy Z, Rajczy K, László J
Szülészeti és Nögyógyászati Klinika, Orvostovábbképzö Egyetem, Budapest.
Orv Hetil. 1992 Jan 12;133(2):71-5.
Evaluation of prenatal cytogenetic diagnosis by Genetic Center of Postgraduate Medical University in 1980 and 1990. Between 1980 and 1990, 1039 amniocenteses (AC), 1263 chorionic villus samples (CVS), and 30 fetal blood sampling were performed for cytogenetic reasons. The rate of chromosome abnormalities were 5.5 per cent in the first trimester CVS, 5.2 per cent in the second trimester CVS, and 3.1 per cent in AC. The Down syndrome was the most frequent abnormality (46 fetuses) and the next was the Edwards syndrome (15 cases). It was established that though the case number is fourteen times more than the beginning of this decade, this was enough only for screening women 39 or over. During this period several new methods were introduced making possible the diagnosis from 9th week of pregnancy until term. Among these methods the CVS has not only become an alternative to the AC but now it is the most frequent procedure in our laboratory. Though most pregnants are still referred for prenatal cytogenetic investigation because of their advanced age, the authors search for other risk factors which would make possible screening in younger women, too.
1980年和1990年研究生医学院遗传中心对产前细胞遗传学诊断的评估。1980年至1990年间,出于细胞遗传学原因进行了1039次羊膜穿刺术(AC)、1263次绒毛取样(CVS)和30次胎儿血液取样。孕早期CVS的染色体异常率为5.5%,孕中期CVS为5.2%,AC为3.1%。唐氏综合征是最常见的异常(46例胎儿),其次是爱德华兹综合征(15例)。已确定,尽管病例数比这十年开始时增加了14倍,但这仅足以对39岁及以上的女性进行筛查。在此期间引入了几种新方法,使得从怀孕第9周直至足月都能进行诊断。在这些方法中,CVS不仅成为AC的替代方法,而且现在是我们实验室最常用的操作。尽管大多数孕妇仍因年龄较大而被转诊进行产前细胞遗传学检查,但作者们在寻找其他风险因素,以便也能对年轻女性进行筛查。