Objective: We determined the incidence of specific chromosome abnormalities in this Japanese population so that comparisons could be made to the incidence of chromosome abnormalities reported for other populations.
Methods: A total of 423 cases of products of conception aborted spontaneously were collected for cytogenetics analysis from various medical sites located in Japan. The cytogenetic results, along with clinical information including gestational age at the time of the miscarriage and maternal age, were compiled in a database. The incidence of specific chromosome aberrations was determined. The abnormalities were separated by gestational age at the time of the miscarriage and by maternal age.
Results: The total number of specimens available for cytogenetic analysis was 407. Cytogenetic results were obtained for 347 cases (85.3%), of which 196 (56.5%) showed chromosome abnormalities. Autosomal trisomy was detected in 120 cases (61.2% of the abnormal cases). Trisomy for each autosome, with the exception of chromosomes 1, 5, 6, 11, 12, and 19, was identified. The most common autosomal trisomy was that of chromosome 16 (30 cases), followed by trisomy 21 (13 cases), and trisomy 22 (13 cases). Eight cases showed double trisomies, and one case showed trisomy for three different chromosomes. Two cases showed monosomy 21, and 24 cases showed 45,X. Triploidy was identified in 27 cases and tetraploidy was detected in five cases. Unbalanced structural rearrangements were found in 11 cases, and balanced translocations were identified in two cases. Six cases showed mosaicism: three cases showed a normal cell line; and three cases had multiple abnormal cell lines. Separating the trisomies by the gestational age at which time the miscarriage occurred revealed that trisomies 7, 8, 14, 15, 16 and 22 occurred exclusively during the first trimester and fetuses with trisomies 4, 13, 18 and 21 survived late into the second trimester.
Conclusion: Overall patterns of chromosome abnormalities detected in spontaneous abortions in Japan were similar to those reported in the literature.