Origin and outcome of pregnancies affected by androgenetic/biparental chimerism

Authors: Robinson, Wendy P.; Lauzon, Julie L.; Innes, A.Micheil; Lim, Ken; Arsovska, Snezana; McFadden, Deborah E.

Source: Human Reproduction, Volume 22, Number 4, 18 April 2007 , pp. 1114-1122(9)

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Abstract:

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.

CONCLUSION

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.

Keywords: androgenetic; chimera; hemangioma; mosaicism; placental mesenchymal dysplasia

Document Type: Research article

DOI: http://dx.doi.org/10.1093/humrep/del462

Publication date: 2007-04-18

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Human Reproduction features full-length, peer-reviewed papers reporting original research, clinical case histories, as well as opinions and debates on topical issues. Papers published cover the scientific and medical aspects of reproductive physiology and pathology, endocrinology, andrology, gonad function, gametogenesis, fertilization, embryo development, implantation, pregnancy, genetics, genetic diagnosis, oncology, infectious disease, surgery, contraception, infertility treatment, psychology, ethics and social issues. The highest scientific and editorial standard is maintained throughout the journal along with a rapid rate of publication.

Origin and outcome of pregnancies affected by androgenetic/biparental chimerism

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