| Abstract: | The incidence of chromosomal abnormalities was evaluated in couples with a history of repeated abortions. The study included 14 couples with a history of 2 or more spontaneous abortions. Chromosome analysis was carried out on both marital partners from peripheral lymphocyte cultures. In every case, 30-62 metaphases were counted, and at last 20 karyotyped. Among the 14 couples, chromosome anomaly was found in 1 of the partners in 1 case. The patient, a 29-year-old female, was admitted to the hospital in the 36th week of her 10th pregnancy. In addition to an induced abortion and a premature delivery, her history included 7 spontaneous abortions at the 1st or 2nd month. Chromosome analysis of her peripheral blood revealed neither numerical nor structural aberations. In the 38th week, the patient gave birth ato a 3990 gm healthy boy whose karyotype of the cord blood also proved to be normal. The karyotype of the patient's husband revealed 45 chromosomes in 32 observed cells, and a chromosome was missing from each of the D and G groups. It was not possible to include in any of the groups a medium-sized, subterminal chromosome, diagnosed as D/G translocation. The husband proved to be a balanced D/G translocation carrier. When the pedigree was prepared, it was found that the younger sister of the husband had given birth to a child 1 month before term. Both the sister and her child were studied. The sister proved to be a balanced D/G translocation carrier. The child had translocational Down's syndrome: the D/G translocation occured in an unbalanced form. A table lists the results of chromosome investigations of cases of repeated abortions. Of 1066 married partners, chromosome aberations or variations responsible for multiple abortions were found in 70 (6.5%). Of these, 26 proved to be translocations. This incidence, 2-4%, is higher than the .4% in the general population. The results add credence to the argument that chromosome aberation may play a role in the causal background of recurring abortions. It is possible that with special staining procedures some aberations can be demonstrated in cases hitherto considered normal. In cases of repeated abortion, cytogenetic examination of both partners is routinely justified. In cases of chromosome aberations valuable data can be gained to serve as a basis for genetic counseling. When examining women with recurrent abortions, it should be possible to select patients to whom the possibility of intrauterine cytogenetic diagnosis can be offered. |
