Summary
A total of 639 spontaneous abortuses collected in a maternity hospital were set up in culture. This sample included 565 unselected consecutive abortuses and 74 selected abortuses ascertained by morphology and/or clinical history. Among these, 339 were incomplete specimens with no recovered embryo or fetus, 110 were anatomically apparently normal and 190 were grossly abnormal. In the unselected series, 565 specimens were cultured and 402 were karyotyped; 215 (53.5%) were chromosomally abnormal. In the selected series, 74 specimens were set up in culture and 45 were karyotyped; 26 (57.7%) had an abnormal karyotype. In all, successful karyotyping was done on 447 abortuses (70%), of which 339 were studied with banding. One or more major chromosome abnormalities were detected in 241 (54%) of the karyotyped cases, 230 of which were numerical anomalies and 11 structural anomalies. Numerical anomalies included primary autosomal trisomies (31% of the total karyotyped), 45,X (10%), triploidy (6.5%), and tetraploidy (1.8%). Of the 22 types of autosomal trisomies possible, all except those for 1, 5, 17, and 19 were identified. An abortus with a 49,XX,+2,+5,+8 karyotype was detected. The excess autosomal material present in the triple trisomic abortus corresponded to 10% of the haploid autosomal complement. Of the 11 abortuses with structural abnormalities, seven were inherited while the other four were sporadic. The survival rate of 45,X conceptuses was estimated to be one in 300.
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References
Boué, J., Boué, A.: Anomalies chromosomiques dans les avortements spontanés. In: Chromosomal errors in relation to reproductive failure. Boué, A., Thibaoult, C. (eds.), pp. 29–56, Paris: INSERM 1973
Carr, D. H.: Chromosomal studies in spontaneous abortions. Obstet. Gynecol. 26, 308–326 (1965)
Carr, D. H., Gedeon, M.: Population cytogenetics of human abortuses. In: Population cytogenetics. Studies in humans. Hook, E. B., Porter, I. H. (eds.), pp. 1–9. New York: Academic Press 1977
Creasy, M. R., Crolla, J. A., Alberman, E. D.: A cytogenetic study of human spontaneous abortions using banding techniques. Hum. Genet. 31, 177–196 (1976)
Hassold, D. J., Natsuyama, A., Newlands, I. M., Matsuura, J. S., Jacobs, P. A., Manuel, B., Tsuei, J.: A cytogenetic study of spontaneous abortions in Hawaii. Ann. Hum. Genet. 41, 443–454 (1978)
Ikeuchi, T., Sasaki, M.: A spontaneous abortus with trisomy 5 identified by fluorescence technique. Proc. Jpn. Acad. 50, 503–505 (1974)
Kajii, T., Ferrier, A.: Cytogenetics of aborters and abortuses. Am. J. Obstet. Gynecol. 131, 33–38 (1978)
Kajii, T., Niikawa, N.: Orgin of triploidy and tetraploidy in man. 11 cases with chromosome markers. Cytogenet. Cell Genet. 18, 109–125 (1977)
Kajii, T., Ohama, K.: Androgenetic origin of hydatideform mole. Nature 268, 633–634 (1977)
Kajii, T., Ohama, K.: Inverse maternal age effect in monosomy X. Hum. Genet. 51, 147–151 (1979)
Kajii, T., Ohama, K., Avirachan, S., Avirachan, T. T.: Trypsin banding of Giemsa-stained chromosomes. Lancet 1972II, 1311–1312
Kajii, T., Ohama, K., Niikawa, N., Ferrier, A., Avirachan, S.: Banding analysis of abnormal karyotypes in spontaneous abortion. Am. J. Hum. Genet. 25, 539–547 (1973)
Kajii, T., Meylan, J., Mikamo, K.: Chromosome anomalies in three successive abortuses due to paternal translocation, t(13q-18q+). Cytogenet. Cell Genet. 13, 426–436 (1974)
Kajii, T., Ohama, K., Mikamo, K.: Anatomic and cytogenetic studies on 944 induced abortuses. Hum. Genet. 43, 247–258 (1978)
Lauritsen, J. G.: Aetiology of spontaneous abortions. A cytogenetic and epidemiological study of 288 abortuses and their parents. Acta Obstet. Gynecol. Scand. [Suppl.] 52, 1–29 (1976)
McConnell, H. D., Carr, D. H.: Recent advances in the cytogenetic study of human spontaneous abortions. Obstet. Gynecol. 45, 547–552 (1975)
Nielsen, J., Sillesen, I.: Incidence of chromosome aberrations among 11,148 newborn children. Humangenetik 30, 1–12 (1975)
Niikawa, N., Merotto, E., Kajii, T.: Origin of acrocentric trisomies in spontaneous abortuses. Hum. Genet. 40, 73–78 (1978)
Ohama, K., Kajii, T.: Monosomy 21 in spontaneous abortus. Humangenetik 16, 267–270 (1972)
Ohama, K., Kusumi, I., Ihara, T.: Trisomy 17 in two abortuses. Jpn. J. Hum. Genet. 21, 257–260 (1977)
Sandler, L., Hecht, F.: Genetic effect of aneuploidy. Am. J. Hum. Genet. 25, 332–339 (1973)
Sugandhi, A., Kajii, T.: Double heteroploidy, 46,XY,t(13q14q), +18, in a spontaneous abortus. Clin. Genet. 4, 101–104 (1973)
Takahara, H., Ohama, K., Fujiwara, A.: Cytogenetic study in early spontaneous abortion. Hiroshima J. Med. Sci. 26, 291–296 (1977)
Vassilakos, P., Riotton, G., Kajii, T.: Hydatidiform mole: two entities. A morphologic and cytogenetic study with some clinical considerations. Obstet. Gynecol. 127, 167–170 (1977)
Warburton, D., Chih-Yu, Kline, J., Stein, Z.: Mosaic autosomal trisomy in cultures from spontaneous abortion. Am. J. Hum. Genet. 30, 609–617 (1978)
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Kajii, T., Ferrier, A., Niikawa, N. et al. Anatomic and chromosomal anomalies in 639 spontaneous abortuses. Hum. Genet. 55, 87–98 (1980). https://doi.org/10.1007/BF00329132
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DOI: https://doi.org/10.1007/BF00329132