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Hum. Reprod. Advance Access published online on December 21, 2006
Human Reproduction, doi:10.1093/humrep/del462
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© The Author 2006. Published by Oxford University Press on behalf of the European Society of Human Reproduction and Embryology. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org

Origin and outcome of pregnancies affected by androgenetic/biparental chimerism

Wendy P. Robinson1,4,6, Julie L. Lauzon5, A.Micheil Innes5, Ken Lim2,4, Snezana Arsovska1,4 and Deborah E. McFadden3,4

1 Department of Medical Genetics 2 Department of Obstetrics and Gynaecology 3 Department of Pathology, University of British Columbia, British Columbia, Canada 4 Reproductive Health Research Program, BC Research Institute for Children's and Women's Health, Vancouver British Columbia, Canada 5 Department of Medical Genetics, Alberta Children's Hospital, University of Calgary, Calgary, Canada

6 To whom correspondence should be addressed at: 950 W. 28th Ave, Rm 3096, Vancouver, British Columbia, Canada V5Z4H4. Email: wprobins{at}interchange.ubc.ca

BACKGROUND: Androgenetic diploid cells confined to the placenta have recently been reported in several cases of normally developed fetuses in association with placental mesenchymal dysplasia (PMD).

METHODS AND RESULTS: We investigated two singleton, mildly growth-restricted, female pregnancies ascertained on the basis of PMD. One case had liver hemangiomas and both infants had multiple skin hemangiomas. Post-natal development was normal. Molecular marker analysis confirmed the diagnosis of androgenetic and normal mixed cell populations in the placenta. Both cases derived from a single maternal genome (M1) and two distinct paternal genomes (P1 and P2). In one case, the androgenetic cell population contained both paternal genomes (P1P2), with one shared in common with the biparental (M1P1) population. In the second case, the androgenetic lineage showed complete homozygosity (P2P2) for a paternal genome not common to the biparental cell population.

CONCLUSIONS: These new PMD cases help to define the range of possible clinical presentations of androgenetic/biparental mosaicism or chimerism. Placentas with androgenetic/biparental chimeric cell populations may derive from a single tri-pronuclear (3PN) zygote in which one or more parental genomes are not equally apportioned to the daughter cells in the first cell division.

Key words: androgenetic/chimera/hemangioma/mosaicism/placental mesenchymal dysplasia


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