Nuchal translucency and lymphatic system maldevelopment

• Published in: Journal of perinatal medicine Vol. 37; no. 6; pp. 673 - 676
• Main Authors: Bellini, Carlo, Rutigliani, Mariangela, Boccardo, Francesco M., Bonioli, Eugenio, Campisi, Corradino, Grillo, Federica, Bellini, Tommaso, Valenzano, Mario, Fulcheri, Ezio
• Format: Journal Article
• Language: English
• Published: Berlin Walter de Gruyter 01.11.2009; De Gruyter
• Subjects: Aborted Fetus - abnormalities; Aborted Fetus - anatomy & histology; Aborted Fetus - metabolism; Actins - metabolism; Antibodies, Monoclonal; Antibodies, Monoclonal, Murine-Derived; Antigens, CD34 - metabolism; Biological and medical sciences; Blood and lymphatic vessels; Cardiology. Vascular system; Cohort Studies; Cystic hygroma; Delivery. Postpartum. Lactation; Diseases of the lymphatic vessels; Down Syndrome - metabolism; Down Syndrome - pathology; edema with nuchal cystic lymphangiectasia; Female; Gynecology. Andrology. Obstetrics; Humans; Immunohistochemistry; Lymphangiectasis - congenital; Lymphangiectasis - metabolism; Lymphangiectasis - pathology; Lymphangiogenesis; Lymphangioma, Cystic - congenital; Lymphangioma, Cystic - metabolism; Lymphangioma, Cystic - pathology; Lymphatic System - abnormalities; Medical sciences; nuchal translucency (NT); Nuchal Translucency Measurement; Platelet Endothelial Cell Adhesion Molecule-1 - metabolism; Pregnancy; Retrospective Studies; Edema; Lymphatic system; Neonatology; Cardiovascular disease; Congenital disease; Lymphatic vessel disease; edema with nuchal cystic lymphangiectasia; nuchal translucency (NT); Lymphangiectasis; Cystic lymphangioma; Malformation; Nuchal translucency; Benign neoplasm; Cystic hygroma
• ISSN: 0300-5577; 1619-3997
• DOI: 10.1515/JPM.2009.107

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.