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Spontaneous Abortion pp 143–152Cite as

Repeated abortions and chromosome analysis

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Part of the book series: Advances in Reproductive Health Care ((ARHE,volume 2))

Abstract

Morphological abnormalities in preimplanted and early implanted embryos were reported as early as 1943 (Hertig and Sheldow, 1943). A proportion of embryonic losses occurred even prior to clinically recognized pregnancies (Hertig and Rock, 1949). The principal etiological factor in spontaneous abortion was an intrinsic abnormality in the fertilized ovum. There have been numerous reports of abnormalities which cause fetal wastage (Carr, 1970; Boué and Boué, 1973; Creasy et al., 1976; Lauritsen, 1976). Sixty percent of detectable first trimester abortions are chromosomally abnormal (Boué and Boué, 1975; Lauritsen, 1976).

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References

  • Antich, J., Clusellas, N., Twose, A. and Godó, R. M. (1980). Chromosomal abnormalities in parents in cases of reproductive failure. Clin. Genet., 17, 52

    Google Scholar 

  • Ballesta, F., Fernandez, E. and Mila, M. (1980). Infertility and chromosomal variations. Clin. Genet., 17, 54

    Google Scholar 

  • Bijlsma, J. B., de France, H. F., Bleeker-Wagemakers, L. M. and Dijkstra, P. F. (1978). Double translocation t(7;12),t(2;6) heterozygosity in one family: a contribution to the trisomy 12p syndrome. Hum. Genet., 40, 135

    Article  PubMed  CAS  Google Scholar 

  • Bortotto, L., Baccichetti, C., Lenzini, E., Tenconi, R., Delendi, N. and Caufin, D. (1980). Cytogenetic survey of couples with habitual abortion and other reproductive wastage. Clin. Genet., 17, 56

    Google Scholar 

  • Boué, J. and Boué, A. (1973). Chromosomal analysis of two consecutive abortuses in each of 43 women. Humangenetik, 19, 275

    Article  PubMed  Google Scholar 

  • Boué, A. and Boué, J. (1975). Reproductive failure secondary to chromosome abnormalities. Acta Europ. Fertil., 6, 39

    Google Scholar 

  • Boué, J., Couillin, P. and Boué, A. (1980). Mechanisms of triploidy. Clin. Genet., 19, 493

    Google Scholar 

  • Byrd, J. R., Askew, D. E. and McDonough, P. G. (1977). Cytogenetic findings in fifty-five couples with recurrent fetal wastage. Fertil. Steril., 28, 246

    PubMed  CAS  Google Scholar 

  • Carr, D. H. (1970). Chromosome abnormalities and spontaneous abortions. In Jacobs, P. A., Price, W. H. and Law, P. (eds.) Human Population Cytogenetics, pp. 103–117. ( Edinburgh: Edinburgh University Press )

    Google Scholar 

  • Chandley, A. C., Seuanez, H. and Fletcher, J. M. (1976). Meiotic behavior of five human reciprocal translocations. Cytogenet. Cell Genet., 17, 98–111

    Article  PubMed  CAS  Google Scholar 

  • Chapelle de la, A., Schröder, J., Stenstrand, K., Fellman, J., Herva, R., Saarni, M., Anttolainen, I., Tallila, I., Tervilä, L., Husa, L., Tallqvist, G., Robson, E. B., Cook, P. J. L. and Sanger, R. (1974). Pericentric Inversions of Human Chromosomes 9 and 10. Am. J. Hum. Genet., 26, 746–766

    PubMed  Google Scholar 

  • Cohen, M. M., Davidson, R. G. and Brown, J. A. (1975). A familial F/G translocation [t(20p−;22q+)] observed in three-generations. Clinical Genetics. 7, 120–127

    Article  PubMed  CAS  Google Scholar 

  • Creasy, M. R., Crolla, J. A. and Alberman, E. D. (1976). A Cytogenetic Study of Human Spontaneous Abortions Using Banding Techniques. Hum. Genet., 31, 177–196

    Article  PubMed  CAS  Google Scholar 

  • Davis, J. R., Weinstein, L., Veomett, I. C., Shenker, L., Giles, H. R. and Hauck, L. (1982). Balanced translocation karyotypes in patients with repetitive abortion. Am. J. Obstet. Gynecol., Vol. 144, nr. 2, pp. 229–233

    PubMed  CAS  Google Scholar 

  • Dutrillaux, B. and Lejeune, J. (1970). Etude de la descendance des individus porteurs d’une translocation t(DqDq). Anales de Génétique. vol. 13, nr. 1, pp. 11–18

    CAS  Google Scholar 

  • Evans, H. J. (1977). Chromosome anomalies among livebirths. Journal of Medical Genetics. 14, 309–312

    Article  PubMed  CAS  Google Scholar 

  • Evans, J. A., Canning, N., Hunter, A. G. W., Martsolf, J. T., Ray, M., Thompson, D. R. and Hamerton, J. L. (1978). A cytogenetic survey of 14,069 newborn infants. Cytogenet. Cell Genet., 20, 96–123

    Article  PubMed  CAS  Google Scholar 

  • Ferguson-Smith, M. A. (1966). Clinical cytogenetics. In Crow, J. F. and v. Neel, J. (eds.) Proceedings of the Third International Congress of Human Genetics, pp. 91–106. ( Baltimore: Johns Hopkins UP )

    Google Scholar 

  • Ford, C. E. (1969). Meiosis in mammals. In Benirschke, K. (ed.) Comparative Mammalian Cytogenetics, pp. 91–106. ( New York: Springer )

    Chapter  Google Scholar 

  • Ford, C. E. and Clegg, H. M. (1969). Reciprocal translocations. Br. Med. Bull., 25, 110

    PubMed  CAS  Google Scholar 

  • Gropp, A. (1974). Fetal mortality due to aneuploidy and irregular meiotic segregation in the mouse. In Boué, A. and Thibault, C. (eds.) Chromosomal Errors in Relation to Reproductive Failure, pp. 255–269. ( Paris: INSERM )

    Google Scholar 

  • de Grouchy, J., Crippa, L. and German, J. (1970). Etudes autoradiographiques des chromosomes humains. VII. Cinq observations de t (DqDq) familiales. Ann. Genet., 13, 19

    PubMed  Google Scholar 

  • Hamerton, L. J. (1970). Robertsonian translocations. Evidence on segregation from family studies. In Jacobs, P. A., Price, W. H. and Law, P. (eds.) Human Population Cytogenetics, pp. 63–80. ( Edinburgh: Edinburgh University Press )

    Google Scholar 

  • Hamerton, J. L. (1971). Human Cytogenetics. Vol. 1, pp 254–272. ( New York and London: Academic Press )

    Google Scholar 

  • Heritage, D. W., English, S. C., Young, R. B. and Chen, A. T. L. (1978). Cytogenetics of recurrent abortions. Fertil. Steril., 29, 414

    PubMed  CAS  Google Scholar 

  • Hertig, A. T. and Rock, J. (1949). A series of potentially abortive ova recovered from fertile women prior to the first missed menstrual period. Am. J. Obstet. Gynecol., 58, 968

    PubMed  CAS  Google Scholar 

  • Hertig, A. T. and Sheldow, W. H. (1943). Minimal criteria required to prove prima facie case of traumatic abortion and miscarriage: an analysis of 1000 spontaneous abortions. Ann. Surg., 117, 596

    Article  PubMed  CAS  Google Scholar 

  • Husslein, P., Huber, J., Wagenbichler, P. and Schnedl, W. (1982). Chromosome abnormalities in 150 couples with multiple spontaneous abortions. Fertil. Steril., 37, 379

    PubMed  CAS  Google Scholar 

  • ISCN (1978). An International System for Human Cytogenetics Nomenclature. Cytogenet. Cell Genet., 21, 311

    Google Scholar 

  • Jacobs, P. A., Angell, R. R., Buchanan, I. M., Hassold, T. J., Matsuyama, A. M. and Manuel, B. (1978). The origin of human triploids. Ann. Hum. Genet., 42, 49

    Article  PubMed  CAS  Google Scholar 

  • Jalbert, P., Sele, B. and Jalbert, H. (1980). Reciprocal translocations: a way to predict the mode of imbalanced segregation by pachytene-diagram drawing. Hum. Genet., 55, 209

    Article  PubMed  CAS  Google Scholar 

  • Kajii, T. and Ferrier, A. (1978). Cytogenetics of aborters and abortuses. Am. J. Obstet. Gynecol., 131, 33

    PubMed  CAS  Google Scholar 

  • Kardon, N. B., Davis, J. G., Berger, A. L. and Brockman, A. (1980). Incidence of chromosomal rearrangements in couples with reproductive loss. Hum. Genet., 53, 161

    Article  PubMed  CAS  Google Scholar 

  • Kim, H. J., Hsu, L. Y. F., Paciuc, S., Cristian, S., Quintana, A. and Hirschhorn, K. (1975). Cytogenetics of fetal wastage. N. Engl. J. Med., 293, 844

    Article  PubMed  CAS  Google Scholar 

  • Kogame, K., Fukuhara, T., Maeda, A. and Kudo, Y. (1978). A partial short arm deletion of chromosome 20:46,XY,del (20) (p1I). Jpn. J. Human Genet., 23, 153

    Article  CAS  Google Scholar 

  • Lauritsen, J. G. (1976). Aetiology of spontaneous abortion. A cytogenetic and epidemiological study of 288 abortuses and their parents. Acta Obstet. Gynaecol. Scand. Suppl. 52

    Google Scholar 

  • Lejeune, J., Dutrillaux, B. and de Grouchy, J. (1970). Reciprocal translocations in human populations. A preliminary analysis. In Jacobs, P. A., Price, W. H. and Law, P. (eds.) Human Population Cytogenetics, pp. 81–87. ( Edinburgh: Edinburgh University Press )

    Google Scholar 

  • Lindenbaum, P. H. and Bobrow, M. (1975). Review article: reciprocal translocations in man. 3: 1 meiotic disjunction resulting in 47- or 45-chromosome offspring. J. Med. Genet., 12, 29

    Article  PubMed  CAS  Google Scholar 

  • Madan, K. and Bobrow, M. (1974). Structural variation in chromosome no. 9. Ann. Genet., 17, 81

    PubMed  CAS  Google Scholar 

  • Matton, M., Verschraegen-Spae, M. R., de Bie, S. and van den Wijngaert, J. (1980). Incidence of T carriers amongst couples with repetitive abortion, after exclusion of any other etiology. Clin. Gen., 17, 78

    Google Scholar 

  • Mennuti, M. T., Jingeleski, S., Schwarz, R. H. and Mellman, W. J. (1978). An evaluation of cytogenetic analysis as a primary tool in the assessment of recurrent pregnancy wastage. Obstet. Gynecol., 52, 308

    PubMed  CAS  Google Scholar 

  • Neu, R. L., Entes, K. and Bannerman, R. M. (1979). Chromosome analysis in cases with repeated spontaneous abortions. Obstet. Gynecol., 53, 373

    PubMed  CAS  Google Scholar 

  • Prescott, G. H., McCaw, B. K., Tolby, B. E., Hecht, F., Miller, R. C., Greene, A. E. and Coriell, L. L. (1975). A (1;15) translocation, balanced, 46 chromosomes. Repository identification No GM-126. Cytogenet. Cell Genet., 14, 84

    Article  PubMed  CAS  Google Scholar 

  • Reinisch, L. C., Silvey, K. L. and Dumars, K. W. (1981). Sex chromosome mosaicism in couples with repeated fetal loss. Am. J. Hum. Genet., 33, 117A

    Google Scholar 

  • Sant-Cassia, L. J. and Cooke, P. (1981). Chromosomal analysis of couples with repeated spontaneous abortions. Br. J. Obstet. Gynaecol., 88, 52

    Article  PubMed  CAS  Google Scholar 

  • Schmid, W. (1980). Cytogenetic results in 96 couples with repeated abortions. Clin. Genet., 17, 85

    Google Scholar 

  • Schmidt, R., Nitowsky, H. M. and Dar, H. (1976). Cytogenetic studies in reproductive loss. J. Am. Med. Assoc., 236, 369

    Article  CAS  Google Scholar 

  • Simpson, J. L., Elias, S. and Martin, A. O. (1981). Parental chromosomal rearrangements associated with repetitive spontaneous abortions. Fertil. Steril., 36, 584

    PubMed  CAS  Google Scholar 

  • Stoll, C., Flori, E., Rumpler, Y. and Warter, S. (1980). Cytogenetic findings in 217 couples with recurrent fetal wastage. Clin. Genet., 17, 88

    Google Scholar 

  • Subrt, I. (1980). Reciprocal translocation with special reference to reproductive failure. Hum. Genet., 55, 303

    Article  PubMed  CAS  Google Scholar 

  • Sutherland, G. R., Gardiner, S. J. and Carter, It F. (1976). Familial pericentric inversion of chromosome 19, inv(19) (p13g13) with a note on genetic counselling of pericentric inversion carriers. Clin. Genet., 10, 54

    Article  PubMed  CAS  Google Scholar 

  • Tabor, A., Jensen, L. K., Lundsteen, C. and Niebuhr, E. (1981). A 5;7, 5:12 double reciprocal translocation in a normal mother and a 5;7 translocation with a recombinant chromosome 5 in her normal child. J. Med. Genet., 18, 307

    Article  PubMed  CAS  Google Scholar 

  • Tho, P. T., Byrd, J. R. and McDonough, P. G. (1979). Etiologies and subsequent reproductive performance of 100 couples with recurrent abortion. Fertil. Steril., 32, 389

    Google Scholar 

  • Tsenghi, C., Metaxotou-Stavridaki, C., Strataki-Benetou, M., Kalpini-Mavrou, A. and Matsaniotis, N. (1976). Chromosome studies in couples with repeated spontaneous abortions. Obstet. Gynecol., 47, 463

    PubMed  CAS  Google Scholar 

  • Turleau, C., Chavin-Colin, F. and de Grouchy, J. (1979). Cytogenetic investigation in 413 couples with spontaneous abortions. Europ. J. Obstet. Gynec. Reprod. Biol., 9, 65

    Article  PubMed  CAS  Google Scholar 

  • Vine, D. T., Yarkoni, S. and Cohen, M. M. (1976). Inversion homozygosity of chromosome no. 9 in highly inbred kindred. Am. J. Hum. Genet., 28, 203

    PubMed  CAS  Google Scholar 

  • Ward, B. E., Henry, G. P. and Robinson, A. (1980). Cytogenetic studies in 100 couples with recurrent spontaneous abortions. Am. J. Hum. Genet., 32, 549

    PubMed  CAS  Google Scholar 

  • Winsor, E. J. T., Palmer, C. G., Ellis, P. M., Hunter, J. L. P. and Ferguson-Smith, M. (1978). Meiotic analysis of a pericentric inversion, inv(7) (p22-q32), in the father of a child with a duplication-deletation of chromosome 7. Cytogenet. Cell Genet., 29, 169

    Article  Google Scholar 

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Authors
  1. J. Kleinhout
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  2. K. Madan
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Editors and Affiliations

  1. IVF/Andrology International, Reproductive Health Center (USA), 78 Switsong, 29455, Kiawah Island, SC, USA

    E. S. E. Hafez (Executive Director) (Executive Director)

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© 1984 MTP Press Limited

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Kleinhout, J., Madan, K. (1984). Repeated abortions and chromosome analysis. In: Hafez, E.S.E. (eds) Spontaneous Abortion. Advances in Reproductive Health Care, vol 2. Springer, Dordrecht. https://doi.org/10.1007/978-94-010-9789-5_10

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  • DOI: https://doi.org/10.1007/978-94-010-9789-5_10

  • Publisher Name: Springer, Dordrecht

  • Print ISBN: 978-94-010-9791-8

  • Online ISBN: 978-94-010-9789-5

  • eBook Packages: Springer Book Archive

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