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Genetically identified complete hydatidiform mole coexisting with a live twin fetus: comparison with conventional diagnosis.

Authors
  • Sumigama, Seiji
  • Itakura, Atsuo
  • Yamamoto, Toshimichi
  • Nagasaka, Tetsuro
  • Yamamoto, Eiko
  • Ino, Kazuhiko
  • Kikkawa, Fumitaka
Type
Published Article
Journal
Gynecologic and Obstetric Investigation
Publisher
S. Karger AG
Publication Date
Jan 01, 2007
Volume
64
Issue
4
Pages
228–231
Identifiers
PMID: 17664887
Source
Medline
License
Unknown

Abstract

Twin pregnancy consisting of a complete hydatidiform mole (CHM) along with a live co-existing fetus is a rare entity and difficult to diagnose. A 37-year-old Japanese woman demonstrated a living fetus, a placenta and a multicystic mass within one gestational sac on ultrasound at 10 weeks. Termination of the pregnancy was performed, and the specimen was classified as partial mole by macro- and microscopic findings. The karyotype of the molar tissue was 46XX. DNA polymorphism analysis demonstrated that fetal DNA showed bi-parental origin while molar DNA showed paternal origin only. Thus, this case was erroneously classified by ultrasonography, macroscopic and pathologic findings, then correctly diagnosed as a twin pregnancy with a CHM and co-existing normal twin fetus by DNA polymorphism analysis. Immunohistochemistry of p57(KIP2), the paternally imprinted and maternally expressed gene, supported the genetic diagnosis. This case suggested that conventional diagnostic methods were inadequate for accurate diagnosis of CHM with a co-existing fetus. DNA polymorphism analysis should be requested for the diagnosis of hydatidiform mole, especially in cases where it is difficult to discriminate between partial hydatidiform mole and CHM with a co-existing fetus.

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