Ohno M, Maeda T, Funato T, Yabe N, Matsunobu A, Yoshihara K
Department of Laboratory Medicine, Kitasato University Hospital, Kanagawa.
Nihon Sanka Fujinka Gakkai Zasshi. 1989 Sep;41(9):1387-93.
Chromosome studies were carried out on both partners of 509 couples with a history of two or more spontaneous abortions. 1) Twenty-six individuals (2.6%) were carriers of a major chromosome abnormality. This incidence is at least six to seven times higher than that in the general adult population. 2) Of these, 10 were reciprocal translocations, 10 robertsonian translocations and 6 numerical aberrations of gonosomes. None of the carriers showed abnormal phenotypes. 3) Chromosome aberrations were more frequent in the women than in their husbands. There were 19 abnormalities in females and 7 in males. 4) The use of banding techniques in chromosome analysis improves the detection of balanced reciprocal translocations. 5) Prenatal diagnosis was performed in 5 subsequent pregnancies of 4 balanced translocation carriers. The fetal karyotypes were 2 normal and 3 balanced translocations. It would seem reasonable to recommend chromosome analysis for couples with repeated spontaneous abortions.
对509对有两次或更多次自然流产史的夫妇双方进行了染色体研究。1)26人(2.6%)是主要染色体异常的携带者。这一发病率至少比一般成年人群高六至七倍。2)其中,10例为相互易位,10例为罗伯逊易位,6例为性染色体数目畸变。所有携带者均未表现出异常表型。3)染色体畸变在女性中比在其丈夫中更常见。女性有19例异常,男性有7例。4)在染色体分析中使用显带技术可提高对平衡相互易位的检测。5)对4名平衡易位携带者随后的5次妊娠进行了产前诊断。胎儿核型2例正常,3例为平衡易位。对于有反复自然流产史的夫妇,建议进行染色体分析似乎是合理的。