Uehara S, Takabayashi T, Miyashita N, Kosuge S, Murotsuki J, Kurahayashi Y, Kimura H, Iwamoto M, Endo H, Watanabe T
Department of Obstetrics and Gynecology, Tohoku University School of Medicine, Sendai.
Nihon Sanka Fujinka Gakkai Zasshi. 1991 Oct;43(10):1333-40.
One thousand forty-seven fetal samples were obtained from women who received the prenatal cytogenetic examination for different reasons. In this study, the incidence of fetal chromosomal aberration related to each reason was analyzed. The incidence of de novo chromosomal aberration in the fetuses of the higher maternal age group was 1.5% (8/525: 4 cases of 21-trisomy, 2 cases of 18-trisomy and 2 cases of 47,XXY). The incidence in the group of women who had borne (a) chromosomally abnormal child(ren) was 0.5% (1/202). There was no repeat of 21-trisomy, 18-trisomy or 13-trisomy in this study. The incidence in the group of women who had ultrasonographic abnormalities was 16.9% (26/154). In this study, abnormal amniotic fluid volume, intrauterine growth retardation, malformation, hydrops fetalis, intestinal obstruction, omphalocele, single cord artery and cerebellar hypoplasia were related to chromosomal aberrations. The incidence in the group of women whose husband or herself was cytogenetically abnormal was 40.0% (26/65). This high value indicated that parental translocation and inversion are easily transmitted to their offspring.
从因不同原因接受产前细胞遗传学检查的女性中获取了1047份胎儿样本。在本研究中，分析了与各原因相关的胎儿染色体畸变发生率。高龄产妇组胎儿的新发染色体畸变发生率为1.5%（8/525：4例21-三体、2例18-三体和2例47,XXY）。生育过染色体异常孩子的女性组发生率为0.5%（1/202）。本研究中未出现21-三体、18-三体或13-三体的重复情况。超声检查异常的女性组发生率为16.9%（26/154）。在本研究中，羊水过少、胎儿生长受限、畸形、胎儿水肿、肠梗阻、脐膨出、单脐动脉和小脑发育不全与染色体畸变有关。丈夫或自身细胞遗传学异常的女性组发生率为40.0%（26/65）。这一高值表明亲代的易位和倒位很容易遗传给后代。
