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Hum. Reprod. Advance Access published online on August 22, 2008

Human Reproduction, doi:10.1093/humrep/den270
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© The Author 2008. 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

Triple genetic identities for the complete hydatidiform mole, placenta and co-existing fetus after transfer of a single in vitro fertilized oocyte: Case report and possible mechanisms

Chao-Chin Hsu1,2, I-Wen Lee1,2, Mei-Tzu Su1,2, Yi-Chien Lin1,2, Christine Hsieh1,2, Pei-Yi Chen3, Hung-Wen Tsai3 and Pao-Lin Kuo1,2,4

1 Department of Obstetrics and Gynecology, National Cheng Kung University Hospital, 138 Sheng Li Road, Tainan 704, Taiwan, Republic of China 2 Department of Obstetrics and Gynecology, China Medical University, Taichung 400, Taiwan, Republic of China 3 Department of Pathology, National Cheng Kung University Hospital, Tainan 704, Taiwan, Republic of China

4 Correspondence address. Tel: +886-6-2353535 ext. 5222; E-mail: paolink{at}mail.ncku.edu.tw

We found different genotypes for the complete hydatidiform mole (CHM), placenta and co-existing fetus derived from a single in vitro fertilized human oocyte by the analysis of short tandem repeat (STR) DNA markers. The molar tissue was found to be heterozygously androgenetic. The fetus and placenta contained identical maternal, but different paternal genomes. Two models were proposed to account for the identification of triple genetic identities in a single fertilized oocyte. In the first model, the oocyte was fertilized by a diploid sperm, resulting in diandric triploidy. Premature cytokinesis resulted in early splitting of a cytoplasmic fragment with one copy of the replicated sperm chromosome, which developed into a heterozygous CHM. The bipolar spindle in syngamy pulled the other copy of sperm chromosomes and replicated oocyte chromosomes to form two blastomeres, which develop into the fetus and placenta, respectively. In the second model, the oocyte was fertilized by two haploid sperms, followed by tripolar spindle formation. Whatever is the mechanism, this case provides direct evidence that CHM can be derived from an oocyte containing an intact maternal genome.

Key words: complete hydatidiform mole/co-existing fetus/in vitro fertilization/post-zygotic diploidization of triploid

Submitted on March 13, 2008; resubmitted on June 12, 2008; accepted on June 17, 2008.


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