Mennuti M T, Jingeleski S, Schwarz R H, Mellman W J
Obstet Gynecol. 1978 Sep;52(3):308-13.
Cytogenetic evaluation of couples with recurrent pregnancy wastage is frequently performed only after other possible etiologic factors have been excluded. Previous reports of studies using conventional and G-banding chromosome techniques in these couples have shown a higher frequency of translocations than that found in the general population. In the study reported here, both conventional and G-banded chromosome analyses were performed as a primary method of evaluation in 34 couples with recurrent fetal loss not ascertained by the birth of a child with a diagnosed chromosome disorder. Balanced translocations were found in 5 partners of the 34 couples studied. In only 2 of these cases was the translocation detected by conventional chromosome analysis. These results suggest that G-banded chromosome analysis should be a useful tool in the initial evaluation of couples with recurrent fetal wastage, rather than being recommended only after extensive investigation of other factors is unrewarding. The reproductive counseling of couples with a translocation detected on this basis is discussed.
对于反复发生妊娠丢失的夫妇，通常只有在排除其他可能的病因后才进行细胞遗传学评估。此前关于使用常规和G显带染色体技术对这些夫妇进行研究的报告显示，与一般人群相比，易位的发生率更高。在本报告的研究中，对34对反复发生胎儿丢失且未因出生患有诊断明确的染色体疾病的孩子而确诊的夫妇，将常规和G显带染色体分析作为主要评估方法。在所研究的34对夫妇中，有5名配偶发现存在平衡易位。在这些病例中，只有2例通过常规染色体分析检测到易位。这些结果表明，G显带染色体分析应是反复发生胎儿丢失夫妇初始评估中的有用工具，而不是仅在对其他因素进行广泛调查无果后才推荐使用。本文还讨论了在此基础上检测到易位的夫妇的生殖咨询问题。
