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DNA analysis of partial hydatidiform mole revealing triandric monogynic tetraploidy.

Lajos GergelyMiroslav KorbelVanda RepiskáĽudovít DanihelJuraj HutníkLiam McCulloughPetra Priščáková
Published in: Ceska gynekologie (2024)
The authors present a case of a partial hydatidiform mole where DNA analysis (STR - short tandem repeat genotyping) showed a triandric monogynic tetraploid genome composition with a XXXY gonosomal complement. This genetic finding clinicopathologically correlates with a partial hydatidiform mole, although it is rare in comparison with the typical, diandric monogynic triploid partial moles. The genetic analysis definitively confirmed the suspected diagnosis of a partial mole. To exclude the possibility that molar pregnancy represented retained products of conception after elective pregnancy termination, STR profiles from molar pregnancy and previous products of conception were compared. Short tandem repeats genotyping is a useful molecular genetic method in the differential diagnosis of partial hydatidiform moles, where clinical-pathological findings are frequently ambiguous.
Keyphrases
  • genome wide
  • preterm birth
  • single molecule
  • pregnancy outcomes
  • high throughput
  • circulating tumor
  • dna methylation
  • copy number
  • genetic diversity
  • circulating tumor cells