Summary
Confined chorionic mosaicism, detected commonly on chorionic villus sampling (CVS) and occasionally in cultured amniotic fluid cells, is described in five pregnancies that showed confined chorionic mosaicism for trisomies 12, 13, 14, 17 and a marker chromosome. Cytogenetic findings in these pregnancies support the conclusion that within chorion some chromosomal mosaicism are confined to the trophectoderm derivatives while others to the extra-embryonic mesoderm. The etiology of confined chorionic mosaicism is discussed in relation to a significant role of multiple cell lineages contributing to the early development of placenta. The need is indicated for the use of both direct and long-term cultures in CVS prenatal diagnosis, and for the confirmatory testing of fetal blood or amniotic fluid in cases where mosaicism is detected in chorionic villi.
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References
Boyd JD, Hamilton JJ (1970) The human placenta. Heffer, Cambridge
Bui TH, Iselius L, Lindsten J (1984) European collaborative study on prenatal diagnosis: mosaicism, pseudomosaicism and single abnormal cells in amniotic fluid cell cultures. Prenat Diagn 1: 145–162
Cox DM, Niewczas-Late V, Riffel MI, Hamerton JL (1974) Chromosme mosaicism in diagnostic amniotic fluid cell cultures. Pediatr Res 8: 679–683
Djalali M, Steinbach P, Schwinger E, Schwanitz G, Tettenborn U, Wolf M (1985) On the significance of true trisomy 20 mosaicism on amniotic fluid culture. Hum Genet 69: 321–326
Eichenbaum SZ, Krumins EJ, Fortune DW, Duke J (1986) Falsenegative finding on chorionic villus sampling. Lancet II: 391–392
Ford CE (1969) Mosaics and chimaeras. Br Med Bull 25: 104–109
Greenberg F, Elsas TN, Reidy JA, Chen TLA, Stone BL (1982) Autosomal mosaicism in amniotic fluids cells from a twin pregnancy. Am J Med Genet 11: 109–112
Hoehn H, Rodriguez ML, Norwood TH, Maxwell CL (1978) Mosaicism in amniotic fluid cell cultures: classification and significance. Am J Med Genet 2: 253–266
Hsu LF, Perlis TE (1984) United States survey on chromosome mosaicism and pseudomosaicism in prenatal diagnosis. Prenat Diagn 4: 97–130
Jensen PKA, Hahnemann N, Rehder H, Schwingers E, Friedrich U (1984) Prenatal diagnosis of a 46,XX/47,XX+12 mosaic. Prenat Diagn 4: 307–309
Kalousek DK, Dill FJ (1983) Chromosomal mosaicism confined to the placenta in human conceptions. Science 221: 665–667
Markert CL, Petters RM (1978) Manufactured hexaparental mice show that adults are derived from three embryonic cells.Science 202: 56–58
Martin AO, Simpson JL, Rosinsky BJ, Elias S (1986) Chorionic villus sampling in continuing pregnancies. Am J Obstet Gynecol 154: 1353–1362
Mikkelsen M (1985) Cytogenetic findings in first trimester chorionic villi biopsies: a collaborative study. In: Fraccaro M, Simoni G, Brambati G (eds) First trimester fetal diagnosis. Springer, Berlin Heidelberg New York, pp 109–120
Pergament E, Verlinsky Y (1986) Fetal karyotyping by chorionic tissue culture. In: Brambati G, Simoni G, Fabros S (eds) Chorion villus sampling fetal diagnosis of genetic diseases in the 1st trimester, vol 21. Dekker, New York Basel, pp 119–129
Pfeiffer RA, Ulmer R, Kniewald A, Wagner-Thiessen E (1984) Prenatal diagnosis of trisomy 9 mosaicism possibly limited to fetal membranes. Prenat Diagn 4: 387–389
Rudd NL, Gardner MA, Worton RB (1977) Mosaicism in amniotic fluid cell cultures. Birth Defects: Original Article Ser, the National Foundation March of Dimes 13: 249–258
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 firsttrimester of pregnancy. Hum Genet 63: 239–257
Simoni G, Gimelli G, Cuoco C, Terzoll GL, Rossella F, Romitti L, Dalpra 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 G (eds) First trimester fetal diagnosis. Springer, Berlin Heidelberg New York, pp 137–143
Simoni G, Gimelli G, Cuoco C, Romitti L, Terzoili G, Guerneri S, Rossella F, Pescetto L, Pezzolo A, Porta S, Brambati B, Porro E, Fraccaro M (1986) First trimester fetal karyotyping: one thousand diagnoses. Hum Genet 72: 203–209
Stetten G, Meissner HI (1981) Unusual and rapid amniotic fluid cell growth. Am J Obstet Gynecol 140: 719–721
Vekemans MJJ, Perry TB (1986) Cytogenetic analysis of chorionic villi: a technical assessment. Hum Genet 72: 307–310
Warburton D, Yu Ch-Y, Kline J, Stein Z (1978) Mosaic autosomal trisomy in cultures from spontaneous abortions. Am J Hum Genet 30: 609–617
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Kalousek, D.K., Dill, F.J., Pantzar, T. et al. Confined chorionic mosaicism in prenatal diagnosis. Hum Genet 77, 163–167 (1987). https://doi.org/10.1007/BF00272385
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DOI: https://doi.org/10.1007/BF00272385