Premium
A newly described thoracic vascular malformation in fetuses with Down syndrome
Author(s) -
Prefumo F.,
Ierullo A. M.,
Fulcheri E.,
Venturini P. L.,
De Biasio P.,
Thilaganathan B.
Publication year - 2005
Publication title -
ultrasound in obstetrics and gynecology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.202
H-Index - 141
eISSN - 1469-0705
pISSN - 0960-7692
DOI - 10.1002/uog.1979
Subject(s) - medicine , fetus , thorax (insect anatomy) , chorionic villus sampling , anatomy , gestation , gestational age , thoracic wall , prenatal diagnosis , pregnancy , radiology , genetics , biology
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. Copyright © 2005 ISUOG. Published by John Wiley & Sons, Ltd.