A newly described thoracic vascular malformation in fetuses with Down syndrome

F. Prefumo, A. M. Ierullo, E. Fulcheri, P. L. Venturini, P. De Biasio, B. Thilaganathan

Research output: Contribution to journalArticlepeer-review


Objectives: To report the association between thoracic vascular malformations observed in the first trimester of pregnancy and Down syndrome. Methods: The clinical features were reviewed of seven fetuses undergoing chorionic villus sampling (CVS) for increased nuchal translucency (NT) thickness, in which color Doppler ultrasonography revealed a vascular malformation in the fetal thorax. Results: The crown-rump length of the fetuses ranged from 58 to 78 mm and NT measurements ranged from 2.9 to 10.0 mm. Color Doppler allowed the identification of a highly vascular structure in the posterolateral portion of the fetal thorax, in proximity to the costovertebral angle, at the level of a four-chamber view of the heart. The lesions had a globular shape and were 4-6 mm in diameter, occupying almost one third of the hemithorax. Down syndrome was diagnosed in five out of the seven cases. In the only affected case that underwent postmortem examination, a hemangioma of the chest wall was demonstrated. In the two fetuses with normal karyotype, the lesion disappeared by mid-gestation. Conclusion: We report an association between the prenatal Doppler finding of a vascular tumor in the fetal chest and Down syndrome.

Original languageEnglish
Pages (from-to)218-220
Number of pages3
JournalUltrasound in Obstetrics and Gynecology
Issue number3
Publication statusPublished - Sep 2005


  • Color Doppler
  • Down syndrome
  • First trimester
  • Hemangioma
  • Nuchal translucency

ASJC Scopus subject areas

  • Obstetrics and Gynaecology
  • Radiology Nuclear Medicine and imaging
  • Radiological and Ultrasound Technology
  • Reproductive Medicine
  • Acoustics and Ultrasonics


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