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 journalArticle

Abstract

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
Volume26
Issue number3
DOIs
Publication statusPublished - Sep 2005

Fingerprint

Vascular Malformations
fetuses
Down Syndrome
thorax
Fetus
Thorax
chest
Nuchal Translucency Measurement
lesions
Blood Vessels
color
pregnancy
Chorionic Villi Sampling
Crown-Rump Length
Doppler Color Ultrasonography
proximity
Thoracic Wall
First Pregnancy Trimester
tumors
Hemangioma

Keywords

  • 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

Cite this

Prefumo, F., Ierullo, A. M., Fulcheri, E., Venturini, P. L., De Biasio, P., & Thilaganathan, B. (2005). A newly described thoracic vascular malformation in fetuses with Down syndrome. Ultrasound in Obstetrics and Gynecology, 26(3), 218-220. https://doi.org/10.1002/uog.1979

A newly described thoracic vascular malformation in fetuses with Down syndrome. / Prefumo, F.; Ierullo, A. M.; Fulcheri, E.; Venturini, P. L.; De Biasio, P.; Thilaganathan, B.

In: Ultrasound in Obstetrics and Gynecology, Vol. 26, No. 3, 09.2005, p. 218-220.

Research output: Contribution to journalArticle

Prefumo, F, Ierullo, AM, Fulcheri, E, Venturini, PL, De Biasio, P & Thilaganathan, B 2005, 'A newly described thoracic vascular malformation in fetuses with Down syndrome', Ultrasound in Obstetrics and Gynecology, vol. 26, no. 3, pp. 218-220. https://doi.org/10.1002/uog.1979
Prefumo, F. ; Ierullo, A. M. ; Fulcheri, E. ; Venturini, P. L. ; De Biasio, P. ; Thilaganathan, B. / A newly described thoracic vascular malformation in fetuses with Down syndrome. In: Ultrasound in Obstetrics and Gynecology. 2005 ; Vol. 26, No. 3. pp. 218-220.
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