Nuchal translucency and lymphatic system maldevelopment.
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.
Bellini
Carlo
C
Department of Pediatrics (DIPE), University of Genoa, Gaslini Institute, Genova, Italy. carlobellini@ospedale-gaslini.ge.it
Rutigliani
Mariangela
M
Boccardo
Francesco M
FM
Bonioli
Eugenio
E
Campisi
Corradino
C
Grillo
Federica
F
Bellini
Tommaso
T
Valenzano
Mario
M
Fulcheri
Ezio
E
D037881:Aborted Fetus / Q000002:abnormalities* / Q000033:anatomy & histology / Q000378:metabolism; D000199:Actins / Q000378:metabolism; D000911:Antibodies, Monoclonal; D058846:Antibodies, Monoclonal, Murine-Derived; D018952:Antigens, CD34 / Q000378:metabolism; D015331:Cohort Studies; D004314:Down Syndrome / Q000378:metabolism / Q000473:pathology; D005260:Female; D006801:Humans; D007150:Immunohistochemistry; D008200:Lymphangiectasis / Q000151:congenital / Q000378:metabolism / Q000473:pathology; D042583:Lymphangiogenesis; D018191:Lymphangioma, Cystic / Q000151:congenital / Q000378:metabolism / Q000473:pathology; D008208:Lymphatic System / Q000002:abnormalities*; D048208:Nuchal Translucency Measurement; D019408:Platelet Endothelial Cell Adhesion Molecule-1 / Q000378:metabolism; D011247:Pregnancy; D012189:Retrospective Studies
C541116:ACTA2 protein, human; D000199:Actins; D000911:Antibodies, Monoclonal; D058846:Antibodies, Monoclonal, Murine-Derived; D018952:Antigens, CD34; D019408:Platelet Endothelial Cell Adhesion Molecule-1; C500987:monoclonal antibody D2-40