Summary
A retrospective study of 200 missed abortions was performed to determine whether morphological criteria alone are sufficient to ascertain a chromosomal aetiology. Placental changes were clasified into five morphological and four morphometric groups, according to the severity of alterations, and were then correlated with the cytogenetic data. The rate of chromosome anomalies was approximately 50% and was thus not significantly different within the groups II–V, but it was 80% in group I, which covered the most severe placental alterations, namely the partial hydatidiform moles. There was a high incidence of triploidies in group I, trisomies with obligatory early lethality in groups II and III, and X-monosomies in group III. Our findings do not support previous evidence regarding the specificity of certain villous alterations in association with chromosome aberrations. Indeed, they indicate that the placental villi may react similarly to chromosomal and nonchromosomal disturbances and that placental morphology depends on the severity and the temporal onset of the underlying disorder rather than on its type. With respect to chorionic villus samplings (CVS), this would mean that an abnormal villous structure may be suggestive for a chromosome anomaly but does not exclude a normal karyotype.
This is a preview of subscription content, access via your institution.
References
Angell RR, Templeton AA, Messinis IE (1986) Consequences of polyspermy in man. Cytogenet Cell Genet 42:1–7
Boué A, Boué J, Gropp A (1985) Cytogenetics of pregnancy wastage. Adv Hum Genet 14:1–57
Callen DF, Korban G, Dawson G, Gugasyan L, Krumins EJM, Eichenbaum S, Petrass J, Purvis-Smith S, Smith A, Den Duk G, Martin N (1988) Extra embryonic/fetal karyotypic discordance during chorionic villi sampling. Prenat Diagn 8:453–460
Creasy MR, Crolla JA, Alberman ED (1976) A cytogenetic study of human spontaneous abortions using banding techniques. Hum Genet 31:177–196
Edmonds DK, Lindsay KS, Miller JF, Williamson E, Wood PJ (1982) Early embryonic mortality in woman. Fertil Steril 38:447–453
French FE, Bierman JM (1962) Probabilities of fetal mortality. Public Health Rep 77:835–847
Geisler M, Kleinebrecht J (1978) Cytogenetic and histologic analyses of spontaneous abortions. Hum Genet 45:239–251
Göcke H, Muradow I, Cremer H (1982) Morphologic and cytogenetic findings in early abortions. Verh Dtsch Ges Pathol 66:141–146
Göcke H, Schwanitz G, Muradow I, Zerres K (1985) Pathomorphologie und Genetik in der Frühschwangerschaft. Pathologe 6:49–259
Held KR, Kerber S, Goetz P, Seemanova E, Jelinkova E (1989) Chromosomal mosaicism in patients with Turner syndrome. Acta Univ Carol [Med Monogr] (Praha) (in press)
Honoré LH, Dill FJ, Poland BJ (1976) Placental morphology in spontaneous human abortuses with normal and abnormal karyotypes. Teratology 14:151–166
Hunt PA, Jacobs PA (1985a) In vitro growth and chromosome constitution of placental cells. I. Spontaneous and elective abortions. Cytogenet Cell Genet 39:1–6
Hunt PA, Jacobs PA (1985b) In vitro growth and chromosome constitution of placental cells. II. Hydatidiform moles. Cytogenet Cell Genet 39:7–13
Jacobs PA, Hassold TJ, Matsuyama AM, Newlands IM (1978) Chromosome constitution of gestational trophoblastic disease. Lancet II:49
Jacobs PA, Hunt PA, Matsuura JS, Wilson CC (1982) Complete and partial hydatidiform mole in Hawaii: cytogenetics, morphology and epidemiology. Br J Obstet Gynaecol 89:258–266
Kajii T, Ohama K (1977) Androgenetic origin of hydatidiform mole. Nature 268:633–634
Kalousek DK, Dill FJ, Pantzar T, McGillivray BC, Young SL, Wilson RD (1987) Confined chorionic mosaicism in prenatal diagnosis. Hum Genet 77:163–167
Lawler SD, Pickthall VJ, Fisher RA, Povey S, Evans MW, Szulman AE (1979) Genetic studies of complete and partial hydatidiform moles. Lancet II:580
Lawler SD, Fisher RA, Pickthall VJ, Povey S, Evans MW (1982) Genetic studies on hydatidiform moles. I. The origin of partial moles. Cancer Genet Cytogenet 5:309–320
Marx JL (1988) A parent's sex may affect gene expression. Science 239:352–353
Mikkelsen M, Aymé S (1987) Chromosomal findings in chorionic villi: a collaborative study. In: Vogel F, Sperling K (eds) Human genetics. Proceedings of the 7th International Congress, Berlin 1986. Springer, Berlin Heidelberg New York, pp 597–606
Miller JF, Williamson E, Glue J, Gordon YB, Grudzinskas JG, Sykes A (1980) Fetal loss after implantation. Lancet II:554–556
Monk M (1988) Genomic imprinting. Genes Dev 2:921–925
Müntefering H, Dallenbach-Hellweg G, Ratschek M (1988) Pathologisch-anatomische Befunde bei der gestörten Frühschwangerschaft. Gynäkologe 21:262–272
Philippe E (1973) Morphologie et morphometrie des placentas d'aberration chromosomique létale. Rev Fr Gynecol Obstet 68: 645–649
Philippe E, Boué J, Boué A (1980) Les maladies trophoblastiques gestationnelles. Ann Anat Pathol 25:13–38
Plachot J, Grouchy J de, Junca A-M, Mandelbaum J, Turleau C, Couillin P, Cohen J, Salat-Baroux J (1987) From oocyte to embryo: a model, deduced from in vitro fertilization, for natural selection against chromosome abnormalities. Ann Génét (Paris) 30:22–32
Plachot M, Veiga A, Montagut J, Grouchy J de, Calderon G, Lepretre S, Junca A-M, Santalo J, Carles E, Mandelbaum J, Barri P, Degoy J, Cohen J, Egozcue J, Sabatier JC, Salat-Baroux J (1988) Are clinical and biological IVF parameters correlated with chromosomal disorders in early life: a multicentric study. Hum Reprod 3:627–635
Roberts CJ, Lowe CR (1975) Where have all the conceptions gone? Lancet I:498–499
Sachs L (1984) Angewandte Statistik, 6th edn. Springer, Berlin Heidelberg New York, pp 228–230
Simoni G, Gimelli G, Cuoco C, Terzoli GL, Rosella F, Romitti L, Delprà L, Nocera G, Tibiletti MG, Tenti P, Fraccaro M (1985) Discordance between prenatal cytogenetic diagnosis after chorionic villi sampling and chromosomal constitution of the fetus. In: Fraccaro M, Simoni G, brambati B (eds) First trimester fetal diagnosis. Springer, Berlin Heidelberg New York, pp 137–143
Surti U, Szulman A, O'Brian S (1979) Complete (classic) hydatidiform mole with 46, XY karyotype of paternal origin. Hum Genet 51: 153–155
Sutherland GR, Carter RF, Bauld R, Smith II, Bain AD (1978) Chromosome studies at the paediatric necropsy. Ann Hum Genet 42: 173–181
Szulman AE, Philippe E, Boué JG, Boué A (1981) Human triploidy: association with partial hydatidiform moles and nonmolar conceptuses. Hum Pathol 12:1016–1021
Vassilakos P, Riotton G, Kajii T (1977) Hydatidiform mole: two entities. A morphologic and cytogenetic study with some clinical considerations. Am J Obstet Gynecol 127:167–170
Warburton D, Stein Z, Kline J, Susser M (1980) Chromosome abnormalities in spontaneous abortions: data from the New York City study. In: Porter IH, Hook EB (eds) Human embryonic and fetal death. Academic Press, New York London, pp 261–287
Author information
Authors and Affiliations
Additional information
Dedicated to Professor Marlis Tolksdorf on the occasion of her 65th birthday
Rights and permissions
About this article
Cite this article
Rehder, H., Coerdt, W., Eggers, R. et al. Is there a correlation between morphological and cytogenetic findings in placental tissue from early missed abortions?. Hum Genet 82, 377–385 (1989). https://doi.org/10.1007/BF00274002
Received:
Revised:
Issue Date:
DOI: https://doi.org/10.1007/BF00274002
Keywords
- Chromosome Anomaly
- Temporal Onset
- Chromosome Aberration
- Morphological Criterion
- Placental Tissue