Cytogenetics of habitual abortion and other reproductive wastage

Twenty-eight couples were studied with standard chromosome analyses and Giemsa-banding (G-banding) techniques. Sixteen couples had had three or more spontaneous abortions. Of these, five (31.2 per cent) demonstrated balanced chromosome translocations in females. The abnormal karyotypes seen were 46,XX,t(2p −;7p +) in 75 per cent of cells, 46,XX,t(2q +;8q −) in 50 per cent of cells, 46,XX,t(3p −;8q +), 46,XX,t(l p +;17q −), and 46,XX,t( 1q −;16q +) in 50 per cent of cells. Of the twelve couples with pregnancy wastage, two (16.6 per cent) demonstrated balanced translocations—one in a male and one in a female. The anomalies seen were 46,XY,t(7q +: 10p −) and 46,XX,t(lp +;2q −) in 50 per cent of cells. All studies were carried out on blood leukocytes. It is concluded that these chromosome and G-banding analyses are justified in the work-up of couples with reproductive failure, particularly in those suffering from habitual abortion.