Abstract
In most pregnancies the chromosomal complement detected in the fetus is also present in the placenta. The detection of an identical chromosomal complement in both the fetus and its placenta has always been expected as both develop from the same zygote. However, in approximately 2% of viable pregnancies studied by chorionic villus sampling (CVS) at 9 to 11 weeks of gestation, the cytogenetic abnormality, most often trisomy, is confined to the placenta. This phenomenon is known as confined placental mosaicism (CPM). It was first described by Kalousek and Dill in term placentas of infants born with unexplained intrauterine growth restriction (IUGR). Contrary to generalised mosaicism, which is characterised by the presence of two or more karyotypically different cell lines within both the fetus and its placenta, CPM represents tissue specific chromosomal mosaicism affecting the placenta only. The diagnosis of CPM is most commonly made when, after the diagnosis of chromosomal mosaicism in a CVS sample, the second prenatal testing (amniotic fluid culture or fetal blood culture analysis) shows a normal diploid karyotype.
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Selected References
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- Abramowicz M. J., Andrien M., Dupont E., Dorchy H., Parma J., Duprez L., Ledley F. D., Courtens W., Vamos E. Isodisomy of chromosome 6 in a newborn with methylmalonic acidemia and agenesis of pancreatic beta cells causing diabetes mellitus. J Clin Invest. 1994 Jul;94(1):418–421. doi: 10.1172/JCI117339. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Bennett P., Vaughan J., Henderson D., Loughna S., Moore G. Association between confined placental trisomy, fetal uniparental disomy, and early intrauterine growth retardation. Lancet. 1992 Nov 21;340(8830):1284–1285. doi: 10.1016/0140-6736(92)92980-t. [DOI] [PubMed] [Google Scholar]
- Bianchi D. W., Wilkins-Haug L. E., Enders A. C., Hay E. D. Origin of extraembryonic mesoderm in experimental animals: relevance to chorionic mosaicism in humans. Am J Med Genet. 1993 Jun 15;46(5):542–550. doi: 10.1002/ajmg.1320460517. [DOI] [PubMed] [Google Scholar]
- Breed A. S., Mantingh A., Vosters R., Beekhuis J. R., Van Lith J. M., Anders G. J. Follow-up and pregnancy outcome after a diagnosis of mosaicism in CVS. Prenat Diagn. 1991 Aug;11(8):577–580. doi: 10.1002/pd.1970110814. [DOI] [PubMed] [Google Scholar]
- Cassidy S. B., Lai L. W., Erickson R. P., Magnuson L., Thomas E., Gendron R., Herrmann J. Trisomy 15 with loss of the paternal 15 as a cause of Prader-Willi syndrome due to maternal disomy. Am J Hum Genet. 1992 Oct;51(4):701–708. [PMC free article] [PubMed] [Google Scholar]
- Cross J. C., Werb Z., Fisher S. J. Implantation and the placenta: key pieces of the development puzzle. Science. 1994 Dec 2;266(5190):1508–1518. doi: 10.1126/science.7985020. [DOI] [PubMed] [Google Scholar]
- Engel E. A new genetic concept: uniparental disomy and its potential effect, isodisomy. Am J Med Genet. 1980;6(2):137–143. doi: 10.1002/ajmg.1320060207. [DOI] [PubMed] [Google Scholar]
- Graham C. F., Deussen Z. A. Features of cell lineage in preimplantation mouse development. J Embryol Exp Morphol. 1978 Dec;48:53–72. [PubMed] [Google Scholar]
- James R. M., West J. D. A chimaeric animal model for confined placental mosaicism. Hum Genet. 1994 May;93(5):603–604. doi: 10.1007/BF00202833. [DOI] [PubMed] [Google Scholar]
- Johnson A., Wapner R. J., Davis G. H., Jackson L. G. Mosaicism in chorionic villus sampling: an association with poor perinatal outcome. Obstet Gynecol. 1990 Apr;75(4):573–577. [PubMed] [Google Scholar]
- Kalousek D. K., Barrett I. J., McGillivray B. C. Placental mosaicism and intrauterine survival of trisomies 13 and 18. Am J Hum Genet. 1989 Mar;44(3):338–343. [PMC free article] [PubMed] [Google Scholar]
- Kalousek D. K., Dill F. J. Chromosomal mosaicism confined to the placenta in human conceptions. Science. 1983 Aug 12;221(4611):665–667. doi: 10.1126/science.6867735. [DOI] [PubMed] [Google Scholar]
- Kalousek D. K., Dill F. J., Pantzar T., McGillivray B. C., Yong S. L., Wilson R. D. Confined chorionic mosaicism in prenatal diagnosis. Hum Genet. 1987 Oct;77(2):163–167. doi: 10.1007/BF00272385. [DOI] [PubMed] [Google Scholar]
- Kalousek D. K., Langlois S., Barrett I., Yam I., Wilson D. R., Howard-Peebles P. N., Johnson M. P., Giorgiutti E. Uniparental disomy for chromosome 16 in humans. Am J Hum Genet. 1993 Jan;52(1):8–16. [PMC free article] [PubMed] [Google Scholar]
- Kotzot D., Schmitt S., Bernasconi F., Robinson W. P., Lurie I. W., Ilyina H., Méhes K., Hamel B. C., Otten B. J., Hergersberg M. Uniparental disomy 7 in Silver-Russell syndrome and primordial growth retardation. Hum Mol Genet. 1995 Apr;4(4):583–587. doi: 10.1093/hmg/4.4.583. [DOI] [PubMed] [Google Scholar]
- Langlois S., Yong S. L., Wilson R. D., Kwong L. C., Kalousek D. K. Prenatal and postnatal growth failure associated with maternal heterodisomy for chromosome 7. J Med Genet. 1995 Nov;32(11):871–875. doi: 10.1136/jmg.32.11.871. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Ledbetter D. H., Zachary J. M., Simpson J. L., Golbus M. S., Pergament E., Jackson L., Mahoney M. J., Desnick R. J., Schulman J., Copeland K. L. Cytogenetic results from the U.S. Collaborative Study on CVS. Prenat Diagn. 1992 May;12(5):317–345. doi: 10.1002/pd.1970120503. [DOI] [PubMed] [Google Scholar]
- Lomax B. L., Kalousek D. K., Kuchinka B. D., Barrett I. J., Harrison K. J., Safavi H. The utilization of interphase cytogenetic analysis for the detection of mosaicism. Hum Genet. 1994 Mar;93(3):243–247. doi: 10.1007/BF00212016. [DOI] [PubMed] [Google Scholar]
- Markert C. L., Petters R. M. Manufactured hexaparental mice show that adults are derived from three embyronic cells. Science. 1978 Oct 6;202(4363):56–58. doi: 10.1126/science.694518. [DOI] [PubMed] [Google Scholar]
- Nicholls R. D., Knoll J. H., Butler M. G., Karam S., Lalande M. Genetic imprinting suggested by maternal heterodisomy in nondeletion Prader-Willi syndrome. Nature. 1989 Nov 16;342(6247):281–285. doi: 10.1038/342281a0. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Norris M. L., Barton S. C., Surani M. A. The differential roles of parental genomes in mammalian development. Oxf Rev Reprod Biol. 1990;12:225–244. [PubMed] [Google Scholar]
- Pentao L., Lewis R. A., Ledbetter D. H., Patel P. I., Lupski J. R. Maternal uniparental isodisomy of chromosome 14: association with autosomal recessive rod monochromacy. Am J Hum Genet. 1992 Apr;50(4):690–699. [PMC free article] [PubMed] [Google Scholar]
- Philip J., Bryndorf T., Christensen B. Prenatal aneuploidy detection in interphase cells by fluorescence in situ hybridization (FISH). Prenat Diagn. 1994 Dec;14(13):1203–1215. doi: 10.1002/pd.1970141306. [DOI] [PubMed] [Google Scholar]
- Purvis-Smith S. G., Saville T., Manass S., Yip M. Y., Lam-Po-Tang P. R., Duffy B., Johnston H., Leigh D., McDonald B. Uniparental disomy 15 resulting from "correction" of an initial trisomy 15. Am J Hum Genet. 1992 Jun;50(6):1348–1350. [PMC free article] [PubMed] [Google Scholar]
- Schinzel A. NICHD conference. Genomic imprinting: consequences of uniparental disomy for human disease. Am J Med Genet. 1993 Jul 1;46(6):683–684. doi: 10.1002/ajmg.1320460616. [DOI] [PubMed] [Google Scholar]
- Schwinger E., Seidl E., Klink F., Rehder H. Chromosome mosaicism of the placenta--a cause of developmental failure of the fetus? Prenat Diagn. 1989 Sep;9(9):639–647. doi: 10.1002/pd.1970090907. [DOI] [PubMed] [Google Scholar]
- Spence J. E., Perciaccante R. G., Greig G. M., Willard H. F., Ledbetter D. H., Hejtmancik J. F., Pollack M. S., O'Brien W. E., Beaudet A. L. Uniparental disomy as a mechanism for human genetic disease. Am J Hum Genet. 1988 Feb;42(2):217–226. [PMC free article] [PubMed] [Google Scholar]
- Surani M. A., Reik W., Allen N. D. Transgenes as molecular probes for genomic imprinting. Trends Genet. 1988 Mar;4(3):59–62. doi: 10.1016/0168-9525(88)90040-6. [DOI] [PubMed] [Google Scholar]
- Temple I. K., James R. S., Crolla J. A., Sitch F. L., Jacobs P. A., Howell W. M., Betts P., Baum J. D., Shield J. P. An imprinted gene(s) for diabetes? Nat Genet. 1995 Feb;9(2):110–112. doi: 10.1038/ng0295-110. [DOI] [PubMed] [Google Scholar]
- Teshima I. E., Kalousek D. K., Vekemans M. J., Markovic V., Cox D. M., Dallaire L., Gagne R., Lin J. C., Ray M., Sergovich F. R. Canadian multicenter randomized clinical trial of chorion villus sampling and amniocentesis. chromosome mosaicism in CVS and amniocentesis samples. Prenat Diagn. 1992 May;12(5):443–466. doi: 10.1002/pd.1970120514. [DOI] [PubMed] [Google Scholar]
- Vaughan J., Ali Z., Bower S., Bennett P., Chard T., Moore G. Human maternal uniparental disomy for chromosome 16 and fetal development. Prenat Diagn. 1994 Aug;14(8):751–756. doi: 10.1002/pd.1970140817. [DOI] [PubMed] [Google Scholar]
- Voss R., Ben-Simon E., Avital A., Godfrey S., Zlotogora J., Dagan J., Tikochinski Y., Hillel J. Isodisomy of chromosome 7 in a patient with cystic fibrosis: could uniparental disomy be common in humans? Am J Hum Genet. 1989 Sep;45(3):373–380. [PMC free article] [PubMed] [Google Scholar]
- Warburton D. Uniparental disomy: a rare consequence of the high rate of aneuploidy in human gametes. Am J Hum Genet. 1988 Feb;42(2):215–216. [PMC free article] [PubMed] [Google Scholar]
- Wolstenholme J. An audit of trisomy 16 in man. Prenat Diagn. 1995 Feb;15(2):109–121. doi: 10.1002/pd.1970150202. [DOI] [PubMed] [Google Scholar]
- Wolstenholme J., Rooney D. E., Davison E. V. Confined placental mosaicism, IUGR, and adverse pregnancy outcome: a controlled retrospective U.K. collaborative survey. Prenat Diagn. 1994 May;14(5):345–361. doi: 10.1002/pd.1970140505. [DOI] [PubMed] [Google Scholar]
- Woodage T., Prasad M., Dixon J. W., Selby R. E., Romain D. R., Columbano-Green L. M., Graham D., Rogan P. K., Seip J. R., Smith A. Bloom syndrome and maternal uniparental disomy for chromosome 15. Am J Hum Genet. 1994 Jul;55(1):74–80. [PMC free article] [PubMed] [Google Scholar]