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

Caitlin RaymondSong HanGengming HuangCecilia ClementHarshwardhan ThakerJianli Dong
Published in: Laboratory medicine (2023)
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.
Keyphrases
  • copy number
  • pregnancy outcomes
  • preterm birth
  • gestational age
  • risk assessment
  • genome wide
  • pregnant women
  • dna methylation
  • birth weight