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Case Report
Androgenetic/biparental mosaic/chimeric gestation: A case report
1 DO, OB/GYN Resident, Naval Medical Center San Diego, San Diego, CA, USA
2 MD, Maternal Fetal Medicine Staff, Naval Medical Center San Diego, San Diego, CA, USA
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Sara Peters
2740 32nd Street, San Diego, CA 92104,
USA
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Article ID: 100181Z08SP2024
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Peters S, Schmiedecke S. Androgenetic/biparental mosaic/chimeric gestation: A case report. J Case Rep Images Obstet Gynecol 2024;10(2):26–29.ABSTRACT
Introduction: Androgenetic/biparental mosaic/chimeric (ABMC) conceptions are a rare group of gestational trophoblastic disease (GTD) that arise as a result of mosaicism or chimerism and are characterized by hydropically enlarged and variably sized villi. Currently, there are very few reports describing ABMC conceptions; there are 13 total in the literature, and even more rare are those with a molar component.
Case Report: A 27-year-old female patient at 6+4wga presented to the clinic with a complaint of new vaginal bleeding and was diagnosed with a pregnancy of unknown location. The patient re-presented to the clinic at 8+4wga by last menstrual period (LMP) for a follow-up ultrasound. A serum human chorionic gonadotropin (hCG) was ordered and returned at 424,008 mIU/mL. A transvaginal ultrasound demonstrated a heterogeneous “snowstorm” appearance throughout uterine cavity, with a concern for complete mole in the setting of a significantly elevated beta hCG. The patient underwent a suction dilation and curettage with ultrasound guidance. Pathology returned the following report: The specimen was sent to pathology and DNA ploidy returned as diploid; however, p57 demonstrated a discordant staining pattern characterized by expression in villous cytotrophoblast but the absence in villous stromal cells was characteristic of androgenetic/biparental mosaic/chimeric gestation. No fetal parts were identified in gross examination of the specimen.
Conclusion: Androgenetic/biparental mosaic/chimeric (ABMC) conceptions are important to accurately diagnose because the molar form carries an increased risk for persistent gestational trophoblastic diseases. There are few case reports published regarding ABMC cases. We present this case to provide additional data to the field and emphasize the utility for p57 immunohistochemistry and genetic testing to be performed.
Keywords: Chimerism, Dispermy, Gestational trophoblastic disease, Hydropic, Monospermy, Mosaicism
SUPPORTING INFORMATION
Acknowledgments
Thank you to Sarah A. L. Caccamise, Ph.D. for the support in editing and completing this manuscript.
Author ContributionsSara Peters - Substantial contributions to conception and design, Acquisition of data, Analysis of data, Interpretation of data, Drafting the article, Revising it critically for important intellectual content, Final approval of the version to be published
Stacey Schmiedecke - Interpretation of data, Drafting the article, Final approval of the version to be published
Guaranter of SubmissionThe corresponding author is the guarantor of submission.
Source of SupportNone
Consent StatementWritten informed consent was obtained from the patient for publication of this article.
Data AvailabilityAll relevant data are within the paper and its Supporting Information files.
Conflict of InterestAuthors declare no conflict of interest.
Copyright© 2024 Sara Peters et al. This article is distributed under the terms of Creative Commons Attribution License which permits unrestricted use, distribution and reproduction in any medium provided the original author(s) and original publisher are properly credited. Please see the copyright policy on the journal website for more information.
