Digynic monoandric triploidy in the setting of recurrent pregnancy loss: a case report and literature review

Caitlin Raymond, Song Han, Gengming Huang, Cecilia Clement, Harshwardhan Thaker, Jianli Dong

Research output: Contribution to journalArticlepeer-review

Abstract

Triploidy is a genetic occurrence in which the chromosome count is 3n = 69 with a double (2n) chromosomal contribution to the conceptus from one parent. Such pregnancies are usually nonviable and are estimated to account for approximately 1% of recognized conceptions and 10% of recognized miscarriages. Majority opinion is that fetal losses due to triploidies are caused by the presence of 2 copies of paternal chromosomes. In this study, we present a digynic monoandric triploid miscarriage from a 32-year-old G7P1051 at approximately 13 weeks gestation, in which 2 copies of the maternal chromosomes are present in the fetus. This unusual phenomenon is supported by nonmolar placental histology, chromosomal microarray, and short tandem repeat assays, with the latter 2 being discussed in detail. Furthermore, this study includes discussion of recurrent miscarriage, recurrent triploidy, and long-term clinical follow-up of the patient.

Original languageEnglish (US)
Pages (from-to)103-105
Number of pages3
JournalLab Medicine
Volume55
Issue number1
DOIs
StatePublished - Jan 1 2024
Externally publishedYes

Keywords

  • chromosome microarrary
  • digynic triploid
  • genetics
  • microsatellite DNA
  • product of conception
  • triploid gestation

ASJC Scopus subject areas

  • General Medicine

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