Summary
Confined placental chorionic mosaicism is reported in 2% of viable pregnancies cytogenetically analyzed on chorionic villi samplings (CVS) at 9–12 weeks of gestation. In follow-up studies this mosaicism has been shown to be associated with increased frequency of second and third trimester pregnancy loss or intrauterine fetal growth retardation. We have studied 54 spontaneous abortions (SA) for the detection of confined placental mosaicism and found 11 of them to be mosaic. All mosaic cases were identified among first trimester spontaneous abortions, and the mosaicism was confined to specific placental or embryonic/fetal cell lineages. These results indicate that the previously reported mosaicism in SA represents both confined and generalized types of mosaicism and that its accepted frequency of 5%–10% in SA will likely be higher. Over the whole gestational period, the confined placental mosaicism is more common than the reported rate of 1%–2% seen in viable pregnancies at CVS, and a higher proportion of pregnancy complications than previously suspected may be associated with confined placental mosaicism.
Article PDF
Similar content being viewed by others
Avoid common mistakes on your manuscript.
References
Bernert J, Rauskolb R, Jovanovic V, Eiben B, Hausmann I, Mevatee U, Schleirmacher E, Kohler A (1988) Zytogenetische Untersuchungen von Chlorionzottengewebe aus Abortmaterial. Gyndkologe 21:107–109
Boué J, Boué A, Lazar P (1975) Retrospective and prospective epidemiological studies of 1500 karyotyped spontaneous human abortions. Teratology 12:11–26
Craver R, Kalousek DK (1987) Cytogenetic abnormalities among spontaneously aborted previable fetuses. Am J Med Genet Suppl 3:113–119
Creasy MR, Crolla JA, Alberman ED (1976) A cytogenetic study of human spontaneous abortions using banding techniques. Hum Genet 31:177–196
Eiben B, Schubbe I, Borgmann S, Hansmann I (1986) Rapid cytogenetic diagnosis of early spontaneous abortion. Lancet I: 1273–1274
Eiben B, Borgmann S, Schubbe I, Hausmann I (1987) A cytogenetic study directly from chorionic villi of 140 spontaneous abortions. Hum Genet 77:137–141
Eiben B, Bartels I, Bahr-Porsch S, Borgmann S, Gatz G, Gellert G, Gobel R, Hamanns W, Hentemann M, Osmers R, Rauskolb R, Hansmann I (1990) Cytogenetic analysis of 750 spontaneous abortions with the direct preparation method of chorionic villi and its implications for studying genetic causes of pregnancy wastage. Am J Hum Genet 47:656–663
Guerneri S, Fortuna R, Romitti L, Bettio D, Simoni G (1989) Seven cases of trisomy 3 mosaicism in chorionic villi. Prenat Diagn 9:691–695
Hassold T (1986) Chromosome abnormalities in human reproductive wastage. Trends Genet 2:105–110
Hassold T, Chen N, Funkhouser J, Jooss J, Manuel B, Matsuura J, Matsuyama A, Wilson C, Yamane JA, Jacobs PA (1980) A cytogenetic study of 1000 spontaneous abortions. Ann Hum Genet 44:151–164
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 P, Hassold T (1987) Chromosome abnormalities: origin and etiology in abortions and livebirths. In: Vogel F, Sperling K (eds) Human genetics. Proceedings of the 7th International Congress, Berlin 1986. Springer, Berlin Heidelberg New York, pp 233–244
Johnson A, Warpner RJ, Davis GH, Jackson LG (1990) Mosaicism in chorionic villus sampling: an association with poor perinatal outcome. Obstet Gynecol 74:573–577
Kajii T, Ferrier A, Niikawa N, Takahara H, Ohama K, Avirachan S (1980) Anatomic and chromosomal anomalies in 639 spontaneous abortuses. Hum Genet 55:89–98
Kalousek DK (1985) Mosaicism confined to chorionic tissues in human gestation. In: Fraccaro M, Simoni G, Brambati B (eds) First trimester fetal diagnosis. Springer, Berlin Heidelberg New York, pp 130–136
Kalousek DK (1987) Anatomic and chromosome anomalies in specimens of early spontaneous abortion: seven-year experience. March of Dimes Birth Defects Foundation 23:153–168
Kalousek DK, Dill FJ (1983) Chromosome mosaicism confined to the placenta in human conceptions. Science 221:665–667
Kalousek DK (1990) Confined placental mosaicism. Pediatr Pathol 10:69–77
Kalousek DK, Barrett IJ, McGillivray BC (1989) Placental mosaicism and intrauterine survival of trisomies 13 and 18. Am J Hum Genet 44:338–343
Kalousek DK, Fitch N, Paradice BA (1990) Pathology of the human embryo and previable fetus: an atlas. Springer, Berlin Heidelberg New York
Kalousek DK, Howard-Peebles PN, Olson SB, Barrett IJ, Dorfmann A, Black SH, Schulman JD, Wilson RD (1991) Confirmation of CVS mosaicism in term placentae and high frequency of intrauterine growth retardation association with confined placental mosaicism. Prenat Diag 11:743–750
Mikkelsen A, Ayme 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
Simoni G (1987) Chromosome study of chorionic villi after shortterm incubation: diagnostic and experimental applications. In: Vogel F, Sperling K (eds) Human genetics. Proceedings of the 7th International Congress, Berlin 1986. Springer Berlin Heidelberg New York, pp 607–610
Simoni G, Brambati B, Danesino C, Rossella F, Terzoli BL, Ferrari M, Fraccaro M (1983) Efficient direct chromosome analyses and enzyme determinations from chorionic villi samples in the first trimester of pregnancy. Hum Genet 63:239–257
Simoni G, Gimelli G, Cuoco C, Terzoli GL, Rossella F, Romitti L, Dalpra L, Nocera G, Tibiletti MG, Tend 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 G (eds) First trimester fetal diagnosis. Springer, Berlin Heidelberg New York, pp 137–143
Warburton D, Fraser FC (1964) Spontaneous abortion risks in man: data from reproductive histories collected in a medical genetics unit. Am J Hum Genet 16:1–24
Warbuton D, Yu C-Y, Klein J, Stein Z (1978) Mosaic autosomal trisomy in cultures from spontaneous abortions. Am J Hum Genet 30:609–671
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Kalousek, D.K., Barrette, I.J. & Gärtner, A.B. Spontaneous abortion and confined chromosomal mosaicism. Hum Genet 88, 642–646 (1992). https://doi.org/10.1007/BF02265289
Received:
Revised:
Issue Date:
DOI: https://doi.org/10.1007/BF02265289