Alberman E, Elliott M, Creasy M, Dhadial R
Br J Obstet Gynaecol. 1975 May;82(5):366-73. doi: 10.1111/j.1471-0528.1975.tb00651.x.
Information on the previous reproductive history of 3467 mothers presenting with a spontaneous abortion is compared with that of a control series presenting with a livebirth. In 1384 abortions the chromosome constitution of the fetal products was determined. The mothers who had delivered a chromosomally normal abortion more often had a history of previous repeated abortions, while those of chromosomally abnormal abortions tended to have fewer repeated abortions but an excess of previous viable children with Down's syndrome. Data are also presented on 23 mothers with two spontaneous abortions of known karyotype; these, together with similar data obtained elsewhere, made it possible to estimate an overall rate of recurrence of chromosome defects in conceptions of the same parents, and the probability that affected fetuses will survive to a viable stage in pregnancy. The clinical and genetic implications of the findings are briefly discussed.
将3467例自然流产母亲的既往生育史信息与一组分娩活产儿的对照者的信息进行比较。在1384例流产病例中,对胎儿产物的染色体构成进行了测定。分娩染色体正常流产儿的母亲既往反复流产史更为常见,而分娩染色体异常流产儿的母亲反复流产次数往往较少,但既往有唐氏综合征活产儿的情况较多。还列出了23例有两次已知核型自然流产的母亲的数据;这些数据与其他地方获得的类似数据一起,使得能够估计同一对父母受孕时染色体缺陷的总体复发率,以及受影响胎儿存活至妊娠可存活阶段的概率。简要讨论了这些发现的临床和遗传学意义。