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Licensed Unlicensed Requires Authentication Published by De Gruyter July 10, 2009

Nuchal translucency and lymphatic system maldevelopment

  • Carlo Bellini , Mariangela Rutigliani , Francesco M. Boccardo , Eugenio Bonioli , Corradino Campisi , Federica Grillo , Tommaso Bellini , Mario Valenzano and Ezio Fulcheri

Abstract

We describe the histological examination of 18 aborted fetuses that had increased nuchal translucency (NT) between 11+0 and 13+6 weeks' gestation. The aim of this study was to assess the corresponding NT anatomic features by immunohistochemical (IHC) investigation. A morphological study was performed using lymphatic and blood endothelial specific markers, as well as smooth muscle actin (SMA). We found that all 18 cases were D2-40 positive, CD31 positive, and CD34 negative, suggesting the presence of nuchal lymph vessel ectasia. We found that 12/18 cases were SMA staining positive and 6/18 cases were SMA negative, suggesting that 6/18 cases had nuchal cystic lymphangiectasia, whereas 12/18 had cystic hygromas. The present data seem to confirm the reasonable hypothesis that lymphangiogenesis plays a relevant role in nuchal edema, increased NT, and that increased NT is the result of a lymphatic malformation or a delayed development of the lymphatic system.


Corresponding author: Carlo Bellini, MD, PhD Dipartimento di Pediatria Università di Genova Istituto G. Gaslini, Largo G. Gaslini 5 16147 Genova Italy Tel.: +39 10 5636762 Fax: +39 10 3770675

Received: 2009-2-17
Revised: 2009-4-30
Accepted: 2009-5-4
Published Online: 2009-07-10
Published Online: 2009-07-10
Published in Print: 2009-11-01

©2009 by Walter de Gruyter Berlin New York

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