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Chromosome analyses in couples with repeated pregnancy loss

Published online by Cambridge University Press:  31 July 2008

T. Andrews  and
D. F. Roberts
T. Andrews
Affiliation:
Department of Human Genetics, University of Newcastle upon Tyne
D. F. Roberts
Affiliation:
Department of Human Genetics, University of Newcastle upon Tyne
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Summary

Cytogenetic 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.

Type
Research Article
Information
Journal of Biosocial Science , Volume 14 , Issue 1 , January 1982 , pp. 33 - 52
Copyright
Copyright © Cambridge University Press 1982

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References

Adzic, S., Mujin, K., Markovic, S., Sulovic, V. & Dinulovic, D. (1978) Structural chromosomal aberrations in parents with spontaneous abortions. Jugoslav. ginek. opstet. 18, 295.Google ScholarPubMed
Antich, J., Clusellas, N., Twose, A. & Godo, R.M. (1980) Chromosome abnormalities in parents in cases of reproductive failure (Abstr.). Clin. Genet. 17, 52.Google Scholar
Ballesta, F., Fernandez, E. & Mila, M. (1980) Infertility and chromosomal variations (Abstr.). Clin. Genet. 17, 54.Google Scholar
Battin, M.J. (1977) Les avortements génétiques. Bordeaux méd. 10, 595.Google Scholar
Bauld, R., Sutherland, G.R. & Bain, D. (1974) Chromosome studies in investigation of stillbirths and neonatal deaths. Archs Dis. Childh. 49, 782.CrossRefGoogle ScholarPubMed
Bhasin, M.K., Foerster, W. & Fuhrmann, W. (1973) A cytogenetic study of recurrent abortion. Humangenetik. 18,139.CrossRefGoogle ScholarPubMed
Bishun, N.P. & Morton, W.R.M. (1968) Chromosome studies on women who have had two or more unsuccessful pregnancies. J. Obstet. Gynaec. Br. Commonw. 75, 66.CrossRefGoogle ScholarPubMed
Bochkov, N.P., Kuleshov, J.P., Chebotarev, A.N., Alekhin, V.I. & Midian, S.A. (1974) Population cytogenetic investigation of newborns in Moscow. Humangenetik, 22, 139.CrossRefGoogle ScholarPubMed
Bortotto, L., Baccichetti, C., Lenzini, E., Tenconi, T., Dezendi, N. & Caufin, D. (1980) Cytogenetic survey of couples with habitual abortion and other reproductive wastage (Abstr.). Clin. Genet. 17, 56.Google Scholar
Boué, J.G., Boué, A. & Lazar, P. (1975) The epidemiology of human spontaneous abortions with chromosomal anomalies. In: Aging Gametes, pp 330–348. Edited by Blandau, R. J.. Karger. Basle.Google Scholar
Breuker, K.H., Winkhaus-Schindl, I. & Citoler, P. (1977) Zytogenetische Untersuchungen bei Ehepaaren mit Habituellen Aborten. Arch. Gynaek. 224, 186.CrossRefGoogle Scholar
Broustet, A., Serville, F., Meynie, M., Moulinier, J. & Moretti, G. (1975) Étude cytogenetique de 30 couples ayant presente plusieurs avortements spontaneacute;s. Sem. Hôp. Paris. 51,299.Google Scholar
Buckton, K.E., O'Riordan, M.L., Ratcliffe, S., Slight, J., Mitchell, M., Mcbeath, S., Keay, A.J., Barr, D. & Short, M. (1980) A G-band study of chromosomes in liveborn infants. Ann. hum. Genet. 43, 227.CrossRefGoogle ScholarPubMed
Bühler, E.M. (1980) Women with a history of fetal wastage and balanced chromosomal translocations (Abstr.). Clin. Genet. 17, 58.Google Scholar
Byrd, J.R., Askew, D.E. & Mcdonough, P.G. (1977) Cytogenetic findings in fifty-five couples with recurrent fetal wastage. Pert. Steril. 28, 246.CrossRefGoogle ScholarPubMed
Carr, D.H. (1963) Chromosome studies in abortions and stillborn infants. Lancet, ii, 603.CrossRefGoogle Scholar
Chapelle, A. De La & Schroder, J. (1973) Cytogenetics of recurrent abortions or unsuccessful pregnancies. Int.J. Pert. 18, 215.Google ScholarPubMed
Creasy, M.R., Crolla, J.A. & Alberman, E.D. (1976) A cytogenetic study of human spontaneous abortions using banding techniques. Hum. Genet. 31, 177.CrossRefGoogle ScholarPubMed
Duca, D., Cioltei, A., Ioan, D. & Maximilian, C. (1979) The importance of cytogenetic investigation of the couples with multiple spontaneous abortions and malformed offspring. Rev. Roum. Endocr. 17, 17.Google Scholar
Faed, M.J.W., Robertson, J., Lamont, M.A. & Wolstenholme, J. (1980) Cytogenetic studies in patients with a history of multiple abortions (Abstr.). Clin. Genet. 17, 64.Google Scholar
Forssman, H. & Lehmann, O. (1961) Translocation carrying phenotypically normal males and the Down's syndrome. Lancet, i, 1286.CrossRefGoogle Scholar
Genest, P. (1979) Chromosome variants and abnormalities detected in 51 married couples with repeated spontaneous abortions. Clin. Genet. 16, 387.CrossRefGoogle ScholarPubMed
Geraedts, J.P.M. & Klasen, E.G. (1980) Chromosome studies and α1,-antitrypsin phenotypes in recurrent abortions (Abstr.). Clin. Genet. 17, 68.Google Scholar
Gilgenkrantz, S., Gregoire, M.J. & Streiff, F. (1976) Études cytogenetiques au cours d'avortements spontanés. Bull. Ass. Anat., Paris, 60, 357.Google Scholar
Golob, E. & Kunze-Muhl, E. (1971) Chromosomenbefunde bei Frauen mil wiederholten Fehlgeburten und Missgebildten Fruchten. Wien. klin. Wschr. 83, 668.Google Scholar
Hamerton, J.L., Canning, N., Ray, M. & Smith, S. (1975) A cytogenetic survey of 14,069 newborn infants. Clin. Genet. 8, 223.CrossRefGoogle Scholar
Hamerton, J.L., Ray, M., Abott, J., Williamson, C. & Ducasse, G.C. (1972) Chromosome studies in a neonatal population. Can. med. Ass. J. 106, 776.Google Scholar
Hemming, L. & Burns, C. (1979) Heterochromatic polymorphism in spontaneous abortions. J. med. Genet. 16, 358.CrossRefGoogle ScholarPubMed
Heritage, D.W., English, S.C., Young, R.B. & Chen, A.T.L. (1978) Cytogenetics of recurrent abortions. Pert. Steril. 29, 414.CrossRefGoogle ScholarPubMed
Holbek, S., Friedsrich, U., Lauritsen, J.G. & Therkelsen, A.J. (1974) Marker chromosomes in parents of spontaneous abortuses. Humangenetik, 25, 61.CrossRefGoogle ScholarPubMed
Hungerford, D.A. (1965) Leucocytes cultured from small inocula of whole blood and the preparation of metaphase chromosomes by treatment with hypotonic KC1. Stain Technol. 40, 333.CrossRefGoogle Scholar
Jacobs, P.A., Melville, M., Ratcliffe, S., Keay, A.J. & Syme, J. (1974) A cytogenetic survey of 11, 680 newborn infants. Ann. hum. Genet. 37, 359.CrossRefGoogle Scholar
Kadotani, T., Ohama, K. & Sato, H. (1969) A chromosome survey in 71 couples with repeated spontaneous abortions and stillbirths. Proc. Japan. Acad. 45, 180.CrossRefGoogle Scholar
Kajii, T. & Ferrier, A. (1978) Cytogenetics of aborters and abortuses. Am.J. Obstet. Gvnec. 131. 33.CrossRefGoogle ScholarPubMed
Kaosaar, M.E. & Mikelsaar, A-V.N. (1973) Chromosome investigation in married couples with repeated spontaneous abortions. Humangenetik, 17, 277.CrossRefGoogle ScholarPubMed
Kardon, N.B., Davis, J.G., Berger, A.L. & Broekman, A. (1980) Incidence of chromosomal rearrangements in couples with reproductive loss. Hum. Genet. 53. 161.CrossRefGoogle ScholarPubMed
Khudr, G., (1974) Cytogenetics of habitual abortion. Obstet. gynecl. Surv. 29. 299.CrossRefGoogle ScholarPubMed
Kim, H.J., Hsu, L.Y.F., Paciuc, S., Cristian, S., Quintana, A. & Hirschhorn, K. (1975) Cytogenetics of fetal wastage. New Engl. J. Med. 293, 844.CrossRefGoogle ScholarPubMed
Körner, H. (1975) Zytogenetische undersuchungen bei Infertilitat. Zentbl. Gynäk. 97, 467.Google Scholar
Kulazhenko, V.P., Lazuk, G.I. & Leuchenko, N.N. (1972) Chromosome aberrations in the parents in the case of repeated spontaneous abortions. Sov. Genet. 8. 921.Google Scholar
Kuleshov, N.P. (1976) Chromosome anomalies of infants dying during the perinatal period and premature newborn. Hum. Genet. 31, 151.CrossRefGoogle ScholarPubMed
Kuleshov, N.P. & Kulieva, L.M. (1979) Frequency of chromosomal variants in human populations. Genetika, 15, 745.Google ScholarPubMed
Lancet, M., Segal, I. & Sindel, L. (1978) Chromosomal aberrations in couples with habitual abortion. Harefuah, 94, 103.Google ScholarPubMed
Lubs, H.A. & Ruddle, F.H. (1970) Applications of quantitative karyotyping to chromosome variations in 4400 consecutive newborns. In: Human Population Cytogenetics. pp 119–142. Edited by Jacobs, P. A., Price, W. H. and Law, P.. Pfizer Medical Monographs No. 5.Edinburgh University Press, Edinburgh.Google Scholar
Lucas, M., Wallace, I. & Hirschhorn, K. (1972) Recurrent abortions and chromosome abnormalities. J. Obstet. Gynaec. Br. Commonw. 79, 1119.CrossRefGoogle ScholarPubMed
Luthy, D.A., Karp, L.E. & Schulman, J.D. (1979) What part do chromosomes play in repeated reproductive failure? Contemp. Obstet. Gynaec. 13, 98.Google Scholar
Machin, G.A. & Crolla, J.A. (1974) Chromosome constitution of 500 infants dying during the perinatal period. Humangenetik, 23, 183.Google ScholarPubMed
Makino, S. (1967) Chromosome studies in humans. Jap. J. hum. Genet. 12, 83.Google Scholar
Matton, M., Verschraegen-Spae, M.R., De Bie, S. & Van Den Wijngaert, J. (1980) Incidence of T carriers amongst couples with repetitive abortion, after exclusion of any other etiology (Abstr.). Clin. Genet. 17, 78.Google Scholar
Mckay, R.J., Hodgkin, W.E. & White, E.H. (1967) Chromosomes of couples with repeated abortions (Abstr.). Pediat. Res. 1, 208.CrossRefGoogle Scholar
Mennuti, M.T., Jingeleski, S., Schwarz, R.H. & Mellman, W.J. (1978) An evaluation of cytogenetic analysis as a primary tool in the assessment of recurrent pregnancy wastage. Obstet. Gynec., N.Y. 52,308.Google ScholarPubMed
Neu, R.L., Entes, K. & Bannerman, R.M. (1979) Chromosome analysis in cases with repeated spontaneous abortions. Obstet. Gynec., N.Y. 53, 373.Google ScholarPubMed
Nielsen, J. (1978) Large Y chromosome (Yq+) and increased risk of abortion. Clin. Genet. 13, 415.CrossRefGoogle ScholarPubMed
Nielsen, J. & Sillesen, I. (1975) Incidence of chromosome aberrations among 11,148 newborn children. Hum. Genet. 30, 1.CrossRefGoogle Scholar
Papp, Z., Gardo, S. & Dolhay, B. (1974) Chromosome study of couples with repeated spontaneous abortions. Pert. Steril. 25, 713.CrossRefGoogle ScholarPubMed
Paris, Conference (1971) Standardization in human cytogenetics. Birth Defects Original Articles Series 8, 7. The National Foundation, New York.Google Scholar
Patil, S.R. & Lues, H.A. (1977) A possible association of long Y chromosomes and fetal loss. Hum. Genet. 35, 233.CrossRefGoogle Scholar
Penrose, L.S., Ellis, J.R. & Delhanty, J.D.A. (1960) Chromosomal translocations in mongolism and in normal relatives. Lancet, ii, 409.CrossRefGoogle Scholar
Pergament, E., Kadotani, T. & Sato, H. (1968) Chromosome studies in repeated spontaneous abortions and stillbirths. Am. J. Obstet. Gynec. 100, 912.CrossRefGoogle ScholarPubMed
Pernod, J., Soubirous, C. & Robert, J.M. (1975) Chromosomes et fécondité; étude cytogénétique des couples stériles et des couples à fausses-couches précoces itératives. Lyon méd. 233, 297.Google Scholar
Pescia, G., Jotterand, M. & Gaide, A.-C. (1979) Fausses-couches précoces itératives et caryotype; étude cytogénétique de 80 couples consécutifs. J. Gynecol. Obstet. & Biol. Reprod. 8, 35.Google Scholar
Rani, K., Kotwani, B.G. & Rao, S.R.V. (1974) Cytogenetical studies on couples with repeated abortions. Ind. J. exp. Biol. 12 (1), 98.Google ScholarPubMed
Rosenmann, A., Palti, Z., Segal, S. & Cohen, M.M. (1977) Chromosomes in familial primary sterility and in couples with recurrent abortions and stillbirths. Israeli. med. Sci. 13, 1131.Google ScholarPubMed
Rott, H.-D., Richter, E., Rummel, W.-D. & Schwanitz, G. (1972) Chromosomenbefunde bei Ehepaaren mit gehäuften Aborten. Arch. Gynaek. 213, 110.CrossRefGoogle Scholar
Rowley, P.T., Marshall, R. & Ellis, J.R. (1963) A genetical and cytological study of repeated spontaneous abortion. Ann. hum. Genet. 27, 87.CrossRefGoogle ScholarPubMed
Sant-Cassia, L.J. & Cooke, P. (1981) Chromosomal analysis of couples with repeated spontaneous abortions. Br. J. Obstet. Gynaec. 88, 52.CrossRefGoogle ScholarPubMed
Schmid, W. (1962) A familial chromosome abnormality associated with repeated abortions. Cytogenetics, 1, 199.CrossRefGoogle ScholarPubMed
Schmid, W. (1980) Cytogenetic results in 96 couples with repeated abortions (Abstr.). Clin. enet. 17,85.Google Scholar
Schmidt, R., Nitowsky, H.M. & Dar, H. (1976) Cytogenetic studies in reproductive loss. J. Am. med. Ass. 236, 369.CrossRefGoogle ScholarPubMed
Seabright, M. (1971) A rapid banding technique for human chromosomes. Lancet, ii, 971.CrossRefGoogle Scholar
Sergovich, F.R., Valentine, G.H., Chen, A.T.L., Kingh, R.A.H. & Smout, M.S. (1969) Chromosome aberrations in 2159 consecutive newborn babies. New Engl. J. Med. 280, 851.CrossRefGoogle ScholarPubMed
Shaw, M.W., (1967) Cited in Jacobson,.G.B. & Barter, R.H. (1967) Some cytogenetic aspects of habitual abortion. Am.J. Obstet. Gynec. 97, 666.Google Scholar
Singh, D.N., Hara, S., Foster, H.W. & Grimes, E.M. (1980) Reproductive performance in women with sex chromosome mosaicism. Obstet. Gynec., N.Y. 55, 608.Google ScholarPubMed
Stenchever, M.A., Jarvis, M.T. & Macintyre, M.N. (1968) Cytogenetics of habitual abortion. Obstet. Gynec., N.Y. 32, 548.Google ScholarPubMed
Stenchever, M.A., Parks, K.J., Daines, T.L., Allen, M.A. & Stenchever, M.R. (1977) Cytogenetics of habitual abortion and other reproductive wastage. Am. J. Obstet. Gynec. 127, 143.CrossRefGoogle ScholarPubMed
Stoll, C.G., Flori, E. & Beshara, D. (1978) Interchromosomal effect in balanced trans-locations. Birth Defects, 14, 393.Google Scholar
Stoll, C.J., Flori, E., Rumpler, Y. & Warter, S. (1980) Cytogenetic findings in 217 couples with recurrent fetal wastage (Abstr.). Clin. Genet. 17, 88.Google Scholar
Subrt, I. (1980) Reciprocal translocation with special reference to reproductive failure. Hum. Genet. 55, 303.CrossRefGoogle ScholarPubMed
Tho, P.T., Byrd, J.R. & Mcdonough, P.G. (1979) Etiologies and subsequent reproductive performance of 100 couples with recurrent abortion. Pert. Steril. 32, 389.CrossRefGoogle Scholar
Tsenghi, C., Metaxotou-Stavridaki, C., Strataki-Benetou, M., Kalpini-Mavrou, A. & Matsaniotis, N. (1976) Chromosome studies in couples with repeated spontaneous abortions. Obstet. Gynec., N.Y. 47, 463.Google ScholarPubMed
Tsvetkova, T.G. & Yankova, M.F. (1979) Human chromosome polymorphism and reproductive failure. Genetika, 15, 1858.Google Scholar
Walzer, S. & Gerald, S.P. (1977) A chromosome survey of 13,751 male newborns. In: Population Cytogenetics: Studies in Humans, p. 45. Edited by Hook, E. B. and Porter, I. H.. Academic Press, London.Google Scholar
Ward, B.E., Henry, G.P. & Robinson, A. (1980) Cytogenetic studies in 100 couples with recurrent spontaneous abortions. Am. J. hum. Genet. 32, 549.Google ScholarPubMed
Warter, S. & Foussereau, S. (1972) Anomalies chromosomiques dans 32 cas d'avortements a repetition. Rev.fr. Gynéc. Obstét. 67, 321.Google Scholar
Wilson, J.A. (1969) A prospective cytogenetic study of recurrent abortion. J. med. Genet. 6, 5.CrossRefGoogle ScholarPubMed
Wingate, L. (1965) Chromosome abnormality as a possible cause of habitual abortion. Bristol med.-chir. 80, 5.Google ScholarPubMed