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Chromosomal findings in 164 couples with repeated spontaneous abortions: with special consideration to prior reproductive history

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Summary

The cytogenetic evaluation of 164 couples who experienced repeated spontaneous abortions revealed 11 chromosomal abnormalities (10 translocations and 1 sex chromosome mosaic, 6.70%). An apparent positive relationship between the frequency of chromosome anomalies and the number of spontaneous abortions was observed. Couples with at least one normal liveborn child, in addition to the spontaneous abortions, had a significant increase in chromosomal abnormalities (17.85%) when compared with those with no liveborn offspring (4.41%) (P< 0.005). Similarly, couples whose fetal wastage consisted of only first trimester spontaneous abortions had a greater increase in the frequency of chromosomal abnormalities (8.03% vs 0.00%).

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References

  • Adzic S, Mijin K, Markovic S, Sulovic V, Dinulovic D (1978) Structural chromosomal aberrations in parents with spontaneous abortions. Jugosl Ginekol Opstet 18:295–301

    CAS  PubMed  Google Scholar 

  • Alberman E (1981) The abortus as a predictor of future trisomy 21 pregnancies. In: de la Cruz FF, Gerald PS (eds) Trisomy 21 (Down syndrome) research perspectives. University, Park Press, Baltimore, pp 69–76

    Google Scholar 

  • Alberman E, Elliott M, Creasy M, Dhadial R (1975) Previous reproductive history in mothers presenting with spontaneous abortions. Br J Obstet Gynaecol 83:366–373

    Google Scholar 

  • Antich J, Clusellas N, Twose A, Godo RM (1980) Chromosomal abnormalities in parents in cases of reproductive failure. Clin Genet 17:52

    Google Scholar 

  • Arceo JR, Velasco VR, Armendarez S, Domville E, Olivares MV (1980) Aborto havitual de causa genetica. Ginecol Obstet Mex 47:411–417

    Google Scholar 

  • Ballestra R, Fernandez E, Mila M (1980) Infertility and chromosomal variations. Clin Genet 17:54

    Google Scholar 

  • Bhasin MK, Foerster W, Fuhrmann W (1973) A cytogenetic study of recurrent abortion. Humangenetik 18:139–148

    CAS  PubMed  Google Scholar 

  • Blumberg BD, Shulkin JD, Rotter JI, Mohandas JK, Kaback MM (1981) Chromosomal variants in habitual abortion. Pediatr Res 15:559

    Google Scholar 

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

    Google Scholar 

  • Boue JG, Boue A (1973) Chromosomal analyses of two consecutive abortuses in each of 43 women. Humangenetik 19:275–280

    CAS  PubMed  Google Scholar 

  • Boue J, Boue A, Lazar P (1975) Retrospective and prospective epidemiological studies of 1500 katyotyped spontaneous human abortuses. Teratology 12:11–26

    CAS  PubMed  Google Scholar 

  • Breuker KH, Winkhaus-Schindl I, Citoler P (1977) Zytogenetische Untersuchungen bei Ehepaaren mit habituellen Aborten. Arch Gynaecol 224:186–187

    CAS  Google Scholar 

  • Broustet A, Serville F, Meynie M, Moulinier J, Moretti G (1975) Etude cytogenetique de 30 couples ayant presente plusieurs avortements spontanes. Sem Hop Paris 51:299–302

    CAS  PubMed  Google Scholar 

  • Buhler EM (1980) Two women with history of fetal wastage and balanced chromosomal translocations. Clin Genet 17:58

    Google Scholar 

  • Byrd JF, Askew DE, McDonough PG (1977) Cytogenetic findings in fifty-five couples with recurrent fetal wastage. Fertil Steril 28: 246–250

    CAS  PubMed  Google Scholar 

  • Duca D, Cioltei A, Ioan D, Maximilian C (1979) The importance of cytogenetic investigation of the couples with multiple spontaneous abortions and malformed offsprings. Endocrinologie 17:17–22

    CAS  PubMed  Google Scholar 

  • Elias S, Simpson JL (1980) Evaluation and clinical management of patients at apparent increased risk for spontaneous abortion. In: Porter IH, Hook EB (eds) Human embryonic and fetal death. Academic Press Inc, London, pp 331–353

    Google Scholar 

  • Faed MJW, Robertson J, Lamont MA, Wolstenholme J (1980) Cytogenetic studies in patients with a history of multiple abortions. Clin Genet 17:64

    Google Scholar 

  • Ford J (1977) Cytogenetics of infertility and habitual abortion. Records Adel Chil Hosp 1:287–293

    Google Scholar 

  • Genest P (1979) Chromosome variants and abnormalities in 51 married couples with repeated spontaneous abortions. Clin Genet 16: 387–389

    CAS  PubMed  Google Scholar 

  • Geraedts JMP, Klasen EC (1980) Chromosome studies and 1-antitrypsin phenotypes in recurrent abortions. Clin Genet 17:68

    Google Scholar 

  • Gilgenkrantz S, Gregoire MJ, Streiff F (1976) Cytogenetic studies in spontaneous abortions. Bull Assoc Anat (Nancy) 60:357–365

    CAS  Google Scholar 

  • Hassold TJ (1980) A cytogenetic study of repeated spontaneous abortions. Am J Hum Genet 32:723–730

    CAS  PubMed  PubMed Central  Google Scholar 

  • Hemming L, Burns C (1979) Heterochromatic polymorphism in spontaneous abortion. J Med Genet 16:358–362

    CAS  PubMed  PubMed Central  Google Scholar 

  • Heritage DW, English SC, Young RB, Chen ATL (1978) Cytogenetics of recurrent abortions. Fertil Steril 29:414–417

    CAS  PubMed  Google Scholar 

  • Husslein P, Huber J, Wagenbichler P, Schnedl W (1982) Chromosome abnormalities in 150 couples with multiple spontaneous abortions. Fertil Steril 37:379–383

    CAS  PubMed  Google Scholar 

  • Jacobs PA (1977) Structural rearrangements of the chromosomes of man. In: Hook EB, Porter IH (eds) Population cytogenetics. Studies in humans. Academic Press, New York, pp 81–97

    Google Scholar 

  • Kajii T, Ferrier A (1978) Cytogenetics of aborters and abortuses. Am J Obstet Gynecol 131:33–38

    CAS  PubMed  Google Scholar 

  • Kardon NB, Davis JG, Berger AL, Broekman A (1980) Incidence of chromosomal rearrangements in couples with reproductive loss. Hum Genet 53:161–164

    CAS  PubMed  Google Scholar 

  • Khudr G (1974) Cytogenetics of habitual abortion. A. review. Obstet Gynecol Surv 29:299–309

    Google Scholar 

  • Kim HJ, Hsu LFY, Paciuc S, Cristian S, Quintana A, Hirschhorn K (1975) Cytogenetics of fetal wastage. N Engl J Med 293:844–847

    CAS  PubMed  Google Scholar 

  • Kohn G, Ornoy A, Ben-Tsur Z, Sadovsky E, Cohen MM (1976) Successive spontaneous abortions with diverse chromosomal aberrations in human translocation heterozygotes. Teratology 12:283–290

    Google Scholar 

  • Körner H, Agricola H, Bayer H (1975) Translocation t(7p+;13q-) associated with recurrent abortion. Humangenetik 28:83–86

    PubMed  Google Scholar 

  • Lancet M, Sindel L, Segal I (1978) Chromosomal aberrations in couples with habitual abortion. Harefuah 94:67–69

    CAS  PubMed  Google Scholar 

  • Lauritsen JG (1976) Aetiology of spontaneous abortion. A cytogenetic study of 288 abortuses and their parents. Acta Obstet Gynecol Scand (Suppl) 52:1–29

    CAS  Google Scholar 

  • Lucas M, Wallace I, Hirschhorn K (1972) Recurrent abortions and chromosome abnormalities. J Obstet Gynecol Br Com 79:1119–1127

    CAS  Google Scholar 

  • Luthy DA, Karp LE (1979) What part do chromosomes play in repeated reproductive failure? Contemp Obstet Gynec 13:98–107

    Google Scholar 

  • Matton M, Verschraegen-Spae MR, de Bie S, van der Wiengaert J (1980) Incidence of T carriers amongst couples with repetitive abortion, after exclusion of any other etiology. Clin Genet 17:78

    Google Scholar 

  • McKay RJ Jr, Hodgkin WE, Witte EH (1967) Chromosomes of couples with repeated spontaneous abortions. Pediatr Res 1:208

    Google Scholar 

  • Mennuti MT, Jingeleski S, Schwarz RH, Mellman WJ (1978) An evaluation of cytogenetic analysis as a primary tool in the assessment of recurrent pregnancy wastage. Obstet Gynecol 52:308–313

    CAS  PubMed  Google Scholar 

  • Michels VV, Venne VL, Riccardi VM, Medrano C (1981) Chromosome abnormalities in couples presenting with multiple spontaneous abortions. Am J Hum Genet 33:111A

    Google Scholar 

  • Navajas L (1980) Cytogenetic investigation of couples with multiple spontaneous abortions. Rev Bras Genet 3:353–354

    Google Scholar 

  • Neu RL, Entes K, Bannerman RM (1979) Chromosome analysis in cases with repeated spontaneous abortions. Obstet Gynecol 53: 373–375

    CAS  PubMed  Google Scholar 

  • Nordenson I (1981) Increased frequencies of chromosomal abnormalities in families with a history of fetal wastage. Clin Genet 19: 168–173

    CAS  PubMed  Google Scholar 

  • Palmer CG, Schwartz S, Hodes ME (1980) Transmission of a balanced homologous t(22q;22q) translocation from mother to normal daughter. Clin Genet 17:418–422

    CAS  PubMed  Google Scholar 

  • Pescia G, Jotterand M, Gaide A-C (1979) Fausses-couches precoces interatives et caryotype. Etude cytogenetique de 80 couples consecutifs. J Gynecol Obstet Biol Reprod 8:35–38

    CAS  Google Scholar 

  • Rosenmann A, Segal S, Palti A, Cohen MM (1977) Chromosomes in familial primary sterility and in couples with recurrent abortions and stillbirths. Isr J Med Sci 13:1131–1133

    CAS  PubMed  Google Scholar 

  • Sachs ES (1980) Fertility of translocation carriers. Clin Genet 17:83

    Google Scholar 

  • Sant-Cassia LJ, Cooke P (1981) Chromosomal analysis of couples with repeated spontaneous abortions. Br J Obstet Gynecol 88:52–58

    CAS  Google Scholar 

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

    Google Scholar 

  • Schmidt R, Nitowsky HM, Dar H (1976) Cytogenetic studies in reproductive loss. JAMA 236:396–373

    Google Scholar 

  • Shaw MW (1967) Cited by Jacobsen CB, Barber RH: Some cytogenetic aspects of habitual abortion. Am J Obstet Gynecol 97:666–680

    Google Scholar 

  • Shinohara T, Miyata H, Amenomori Y, Kimura H, Nizue G, Kobayashi T (1980) Cytogenetic study of couples in repeated spontaneous abortions. Jinrui Idengaku Zasshi 25:114

    Google Scholar 

  • Simpson JL, Elias S, Martin AD (1981) Parental chromosomal rearrangements associated with repetitive spontaneous abortions. Fertil Steril 36:584–590

    CAS  PubMed  Google Scholar 

  • Singh DN, Hara S, Foster HW, Grimes EM (1980) Reproductive performance in women with sex chromosome mosaicism. Obstet Gynecol 55:608–611

    CAS  PubMed  Google Scholar 

  • Stenchever MA, Parks KA, Daines TL, Allen MA, Stenchever MR (1977) Cytogenetics of habitual abortion and other reproductive wastage. Am J Obstet Gynecol 127:143–150

    CAS  PubMed  Google Scholar 

  • Stoll C (1981) Cytogenetic findings in 122 couples, with recurrent abortions. Hum Genet 57:101–103

    CAS  PubMed  Google Scholar 

  • Šubrt I (1980) Reciprocal translocation with special reference to reproductive failure. Hum Genet 55:303–307

    PubMed  Google Scholar 

  • Sulewski JM, Dang TP, Ferguson KA, Ward SP, Ladda RL (1980) Chromosomal abnormalities associated with infertility. Obstet Gynecol 55:469–475

    CAS  PubMed  Google Scholar 

  • Taillemite JL, Mulliez M, Hazael-Massieux Ph, LePorrier N, Roux Ch (1976) A chromosome study of 65 couples who lost their pregnancies. J Gynecol Obstet Biol Reprod 5:343–349

    CAS  Google Scholar 

  • Takauchi N, Honda T, Kuriyama K, Takeuchi S (1980) Experience in our genetic clinic with couples who had repeated spontaneous abortions due to unknown causes. Teratology 22:A31

  • Tho PT, Byrd JR, McDonough PG (1979) Etiologies and subsequent reproductive performance of 100 couples with recurrent abortion. Fertil Steril 32:389–395

    Google Scholar 

  • Tsenghi C, Metaxotou C, Kalpini-Mavrov A, Strataki-Beneton M, Matsaniotis N (1981) Parental chromosome translocations and fetal loss. Obstet Gynecol 58:456–458

    CAS  PubMed  Google Scholar 

  • Turleau C, Chavin-Colin F, de Grouchy J (1979) Cytogenetic investigation in 413 couples with spontaneous abortions. Eur J Obstet Gynaecol Reprod Biol 9:65–74

    CAS  Google Scholar 

  • Varela M, Sternberg WH (1979) Incidence of translocations in couples with fetal wastage compared to that found in stillborns and malformed neonates. Am J Hum Genet 29:114A

    Google Scholar 

  • Vogel F, Motulsky A (1979) Human genetics. Problems and approaches. Springer Verlag Inc, New York

    Google Scholar 

  • Wang LY, Palmer CG (1974) A routine trypsin procedure for use in banding chromosomes and autoradiographs. Mam Chrom New 15:26

    Google Scholar 

  • Ward BE, Henry GP, Robinson A (1980) Cytogenetic studies in 117 couples with recurrent spontaneous abortions. Pediatr Res 14:529

    Google Scholar 

  • Warburton D, Fraser FC (1964) Spontaneous abortion risks in man: Data from reproductive histories collected in a medical genetics unit. Am J Hum Genet 16:1–25

    CAS  PubMed  PubMed Central  Google Scholar 

  • Warburton D, Grady V, Jagiello G (1981) The relationship of parental chromosome anomaly to fetal karyotype in spontaneous abortions. In: Bloom AD, James LS (eds) The fetus and the newborn. Birth Defects 17 (1):72–73

  • Warburton D, Stein Z, Kline J, Susser M (1980) Chromosome abnormalities in spontaneous abortion: Data from the New York study. In: Porter IH, Hook EB (eds) Human embryonic and fetal death. Academic Press Inc, London, pp 261–287

    Google Scholar 

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Authors and Affiliations

  1. Department of Medical Genetics, Indiana University School of Medicine, Riley Research 129, 702 Barnhill Drive, 46223, Indianapolis, IN, USA

    Stuart Schwartz & Catherine G. Palmer

  2. Division of Human Genetics, Department of Obstetrics/Gynecology and Pediatrics, University of Maryland School of Medicine, 655 W. Baltimore Street, 21201, Baltimore, MD, USA

    Stuart Schwartz

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Schwartz, S., Palmer, C.G. Chromosomal findings in 164 couples with repeated spontaneous abortions: with special consideration to prior reproductive history. Hum Genet 63, 28–34 (1983). https://doi.org/10.1007/BF00285393

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