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Journal of Perinatal Medicine

Official Journal of the World Association of Perinatal Medicine

Editor-in-Chief: Dudenhausen, Joachim W.

Editorial Board Member: / Bancalari, Eduardo / Greenough, Anne / Genc, Mehmet R. / Chervenak, Frank A. / Chappelle, Joseph / Bergmann, Renate L. / Bernardes, J.F. / Bevilacqua, G. / Blickstein, Isaac / Cabero Roura, Luis / Carbonell-Estrany, Xavier / Carrera, Jose M. / D`Addario, Vincenzo / D'Alton, MD, Mary E. / Dimitrou, G. / Grunebaum, Amos / Hentschel, Roland / Köpcke, W. / Kawabata, Ichiro / Keirse, Marc J.N.C. / Kurjak M.D., Asim / Lee, Ben H. / Levene, Malcolm / Lockwood, Charles J. / Marsal, Karel / Makatsariya, Alexander / Nishida, Hiroshi / Ogata, Edward / Papp, Zoltán / Pejaver, Ranjan Kumar / Pooh, Ritsuko K. / Romero, Roberto / Saugstad, Ola D. / Schenker, Joseph G. / Sen, Cihat / Seri, Istvan / Vetter, Klaus / Winn, Hung N. / Young, Bruce K. / Zimmermann, Roland

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Nuchal translucency and lymphatic system maldevelopment

Carlo Bellini1, a / Mariangela Rutigliani2, a / Francesco M. Boccardo3 / Eugenio Bonioli1 / Corradino Campisi3 / Federica Grillo2 / Tommaso Bellini1 / Mario Valenzano4 / Ezio Fulcheri2

1Department of Pediatrics (DIPE), University of Genoa, Gaslini Institute, largo G. Gaslini, 5, 16147 Genova, Italy

2Department of Pathology (DICMI), S. Martino Hospital, University of Genoa, viale Benedetto XV, 16145 Genova, Italy

3Department of Surgery, Lymphatic Surgery and Microsurgery Unit, S. Martino Hospital, University of Genoa, viale Benedetto XV, 16145 Genova, Italy

4Department of Obstetrics and Gynecology, University of Genoa, Largo R. Benzi 10, 16132 Genova, Italy

aBoth authors contributed equally to the paper.

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

Citation Information: Journal of Perinatal Medicine. Volume 37, Issue 6, Pages 673–676, ISSN (Online) 1619-3997, ISSN (Print) 0300-5577, DOI: 10.1515/JPM.2009.107, July 2009

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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.

Keywords: Cystic hygroma; edema with nuchal cystic lymphangiectasia; nuchal translucency (NT)

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