SummaryCytogenetic investigations were undertaken on 120 couples in Newcastle with repeated pregnancy loss for which no anatomical or other obvious reason could be established. The level of major chromosome anomalies was high, with 6·7% of couples showing one member with an abnormal karyotype. One major anomaly occurred in a control series of 240 random newborns. The couples also showed an elevated incidence of chromosomal heteromorphisms. Similar studies in the literature are reviewed. It seems that major chromosome anomalies make an appreciable contribution to repeated reproductive loss, but proof of the involvement of minor chromosome variants though suspected is less clear.
No mitochondrial DNA deletions but more D-loop point mutations in repeated pregnancy loss