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Complete Hydatidiform Mole with a Coexisting Viable Male Fetus Detected by Cell-Free DNA.

Mackenzie E LemieuxLauren KusKali StewartMai HeJackson RoweMatthew BradyKatherine BligardMegan LawlorJeannie Kelly
Published in: AJP reports (2023)
Complete hydatidiform mole with coexisting fetus (CHMCF) is rare, and diagnosis is challenging due to limited data. Here, we present the case of a patient with noninvasive prenatal test (NIPT) resulting in "likely molar pregnancy" in the second trimester. Subsequent ultrasound confirmed a cystic appearing portion of the placenta. At 22 weeks, the patient delivered a demised fetus and two placentas. Pathology was consistent with CHMCF. This case is the first to show primary detection of a CHMCF with single-nucleotide polymorphism (SNP)-based NIPT prior to ultrasound identification. Our case suggests the use of SNP-based NIPT as an alternative noninvasive method to guide shared decision-making and clinical management for patients with this diagnosis.
Keyphrases
  • magnetic resonance imaging
  • case report
  • genome wide
  • preterm birth
  • pregnant women
  • gestational age
  • pregnancy outcomes
  • big data
  • gene expression
  • contrast enhanced ultrasound
  • artificial intelligence