Nuchal translucency and lymphatic system maldevelopment

J Perinat Med. 2009;37(6):673-6. doi: 10.1515/JPM.2009.107.

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.

MeSH terms

  • Aborted Fetus / abnormalities*
  • Aborted Fetus / anatomy & histology
  • Aborted Fetus / metabolism
  • Actins / metabolism
  • Antibodies, Monoclonal
  • Antibodies, Monoclonal, Murine-Derived
  • Antigens, CD34 / metabolism
  • Cohort Studies
  • Down Syndrome / metabolism
  • Down Syndrome / pathology
  • Female
  • Humans
  • Immunohistochemistry
  • Lymphangiectasis / congenital
  • Lymphangiectasis / metabolism
  • Lymphangiectasis / pathology
  • Lymphangiogenesis
  • Lymphangioma, Cystic / congenital
  • Lymphangioma, Cystic / metabolism
  • Lymphangioma, Cystic / pathology
  • Lymphatic System / abnormalities*
  • Nuchal Translucency Measurement*
  • Platelet Endothelial Cell Adhesion Molecule-1 / metabolism
  • Pregnancy
  • Retrospective Studies

Substances

  • ACTA2 protein, human
  • Actins
  • Antibodies, Monoclonal
  • Antibodies, Monoclonal, Murine-Derived
  • Antigens, CD34
  • Platelet Endothelial Cell Adhesion Molecule-1
  • monoclonal antibody D2-40