First trimester diagnosis of holoprosencephaly and cyclopia with triploidy by transvaginal three-dimensional ultrasonography

Te Yao Hsu*, Shiuh Young Chang, Chia Yu Ou, Zen Hung Chen, Wen Lin Tsai, Ming Shan Chang, Yung Kuei Soong

*Corresponding author for this work

Research output: Contribution to journalJournal Article peer-review

24 Scopus citations

Abstract

We present the prenatal three-dimensional (3D) ultrasound findings in a case of holoprosencephaly and cyclopia at 11 weeks gestation. Only holoprosencephaly with missing cyclopia were initially diagnosed because suboptimal views of the fetal face were obtained with transvaginal two-dimensional (2D) ultrasonography due to fetal position. Chromosomes identified by analysis of a fluid sample from early amniocentesis demonstrated a triploidy (69, XXX), spontaneous fetal demise occurred at 12 weeks and the pregnancy was terminated. This case demonstrated the usefulness of transvaginal 3D ultrasonography in establishing the final diagnosis.

Original languageEnglish
Pages (from-to)235-237
Number of pages3
JournalEuropean Journal of Obstetrics and Gynecology and Reproductive Biology
Volume96
Issue number2
DOIs
StatePublished - 2001
Externally publishedYes

Keywords

  • Cyclopia
  • Holoprosencephaly
  • Three-dimensional ultrasonography
  • Triploidy

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