Cytogenetic findings in 318 couples with repeated spontaneous abortion: a review of experience in British Columbia

We studied G-banded chromosome complements on 318 couples with 2 or more spontaneous abortions. Seven chromosome abnormalities were detected. Three women and one man were identified as carriers of balanced Robertsonian translocations, t(13;14), t(13;14), t(13;21), and t(14;22), respectively. Aneuploidy: 47,XXX; 47,XX, + marker; and 45,X/46,XX/47,XXX were found in the other 3 women. The overall aberration frequency was 2.2% of couples. When a stringent criterion of greater than or equal to 3 consecutive spontaneous abortions was used, the frequency was 4.2%. In this series no chromosome aberrations were identified in couples with 2 spontaneous abortions and a live-born child with congenital anomalies; 1 of 22 couples with 2 spontaneous abortions and a still-born infant showed a chromosomal abnormality. Findings from the recent literature are compared with those from this study.