| Aberrant lymphatic development in euploid fetuses with increased nuchal translucency including Noonan syndrome. | |
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MedLine Citation:
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PMID: 21207407 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
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OBJECTIVE: Increased nuchal translucency in the human fetus is associated with aneuploidy, structural malformations and several syndromes such as Noonan syndrome. In 60-70% of the Noonan syndrome cases, a gene mutation can be demonstrated. Previous research showed that aneuploid fetuses with increased nuchal translucency (NT) demonstrate an aberrant lymphatic endothelial differentiation. METHOD: Fetuses with increased NT and normal karyotype (n = 7) were compared with euploid controls having normal NT (n = 5). A Noonan syndrome gene mutation was found in three out of seven fetuses with increased NT. Endothelial differentiation was evaluated by immunohistochemistry using lymphatic markers (PROX-1, Podoplanin, LYVE-1) and blood vessel markers vascular endothelial growth factor-A (VEGF-A), Neuropilin-1 (NP-1), Sonic hedgehog, von Willebrand factor, and the smooth muscle cell marker, smooth muscle actin. RESULTS: Nuchal edema and enlarged jugular lymphatic sacs (JLSs) were observed in fetuses with increased NT, together with abnormal lymphatic endothelial differentiation i.e. the presence of blood vessel characteristics, including high levels of VEGF-A and NP-1 expression. The enlarged JLSs contained erythrocytes and were surrounded by smooth muscle cells. CONCLUSION: This study shows an aberrant lymphatic endothelial differentiation in fetuses with increased NT and a normal karyotype (including Noonan syndrome fetuses), as was previously reported before in aneuploid fetuses. Copyright © 2011 John Wiley & Sons, Ltd. |
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Authors:
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Yolanda M de Mooij; Nynke M S van den Akker; Mireille N Bekker; Margot M Bartelings; John M G van Vugt; Adriana C Gittenberger-de Groot |
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Publication Detail:
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Type: JOURNAL ARTICLE Date: 2011-1-4 |
Journal Detail:
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Title: Prenatal diagnosis Volume: - ISSN: 1097-0223 ISO Abbreviation: - Publication Date: 2011 Jan |
Date Detail:
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Created Date: 2011-1-5 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 8106540 Medline TA: Prenat Diagn Country: - |
Other Details:
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Languages: ENG Pagination: - Citation Subset: - |
Affiliation:
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Department of Anatomy and Embryology, Leiden University Medical Center, Leiden, The Netherlands. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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