Nuchal edema and venous-lymphatic phenotype disturbance in human fetuses and mouse embryos with aneuploidy

Journal of the Society for Gynecologic Investigation
M N BekkerAdriana C Gittenberger-de Groot

Abstract

Nuchal edema (NE) is a clinical indicator for aneuploidy, cardiovascular anomalies, and several genetic syndromes. Its etiology, however, is unknown. In the nuchal area, the endothelium of the jugular lymphatic sacs (JLS) develops by budding from the blood vascular endothelium of the cardinal veins. Abnormal distension of the jugular sacs is associated with NE. We hypothesize that a disturbed lymphatic endothelial differentiation and sac formation causes NE. We investigated endothelial differentiation of the jugular lymphatic system in human and mouse species with NE. Aneuploid human fetuses (trisomy 21; trisomy 18) were compared with euploid controls (gestational age 12 to 18 weeks). Trisomy 16 mouse embryos were compared with wild type controls (embryonic day 10 to 18). Trisomy 16 mice are considered an animal model for human trisomy 21. Endothelial differentiation was investigated by immunohistochemistry using lymphatic markers (prox-1, podoplanin, lymphatic vessel endothelial hyaluronan receptor [LYVE]-1) and en blood vessel markers (neuropilin [NP]-1 and ligand vascular endothelial growth factor [VEGF]-A). Smooth muscle actin (SMA) was included as a smooth muscle cell marker. We report a disturbed venous-lymphatic phenotyp...Continue Reading

References

May 1, 1992·Developmental Dynamics : an Official Publication of the American Association of Anatomists·T Akitaya, M Bronner-Fraser
Jan 1, 1995·Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology·P P PandyaK H Nicolaides
Apr 1, 1996·Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology·J HyettK H Nicolaides
Mar 17, 1997·American Journal of Medical Genetics·J HyettK Nicolaides
Jan 1, 1997·Annual Review of Cell and Developmental Biology·F S Walsh, P Doherty
Jun 1, 2000·Nature·M HattoriUNKNOWN Chromosome 21 mapping and sequencing consortium
Apr 2, 2002·Human Reproduction·Monique C HaakAdriana C Gittenberger-de Groot
Apr 3, 2002·The EMBO Journal·Jeffrey T WigleGuillermo Oliver
Apr 24, 2002·Seminars in Cell & Developmental Biology·Marika J Karkkainen, Kari Alitalo
Dec 4, 2002·The Journal of Experimental Medicine·Janice A NagyHarold F Dvorak
May 16, 2003·Vascular Pharmacology·D O Bates, S J Harper
Jul 16, 2003·Cold Spring Harbor Symposia on Quantitative Biology·J A NagyH F Dvorak
May 27, 2004·Developmental Dynamics : an Official Publication of the American Association of Anatomists·Adriana C Gittenberger-De GrootMonique C Haak
Aug 12, 2004·Developmental Dynamics : an Official Publication of the American Association of Anatomists·Ulrike Martyn, Stefan Schulte-Merker
Nov 26, 2004·APMIS : Acta Pathologica, Microbiologica, Et Immunologica Scandinavica·David G Jackson
Feb 25, 2005·Developmental Dynamics : an Official Publication of the American Association of Anatomists·Nicola J OsborneBritta J Eickholt
Mar 1, 2005·Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology·M N BekkerJ M G Van Vugt
Nov 25, 2005·Pediatric Research·Mireille N BekkerAdriana C Gittenberger-de Groot

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Citations

Jul 14, 2009·Journal of Perinatal Medicine·Carlo BelliniEzio Fulcheri
Dec 18, 2013·Best Practice & Research. Clinical Obstetrics & Gynaecology·Merel BakkerCaterina M Bilardo
Aug 17, 2010·Taiwanese Journal of Obstetrics & Gynecology·Chih-Ping Chen
Feb 28, 2009·Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology·Y M de MooijJ M G van Vugt
Jan 27, 2011·Prenatal Diagnosis·Yolanda M de MooijAdriana C Gittenberger-de Groot
Mar 17, 2010·American Journal of Obstetrics and Gynecology·Yolanda M de MooijMireille N Bekker
Jul 28, 2013·Seminars in Fetal & Neonatal Medicine·Adriana C Gittenberger-de GrootMonique R M Jongbloed
Apr 19, 2008·Reproductive Sciences·Mireile N BekkerAdriana C Gittenberger-de Groot
Oct 3, 2006·Obstetrics and Gynecology·Mireille N BekkerJohn M G van Vugt
Jun 1, 2007·Ultrasound Quarterly·Celeste Sheppard, Lawrence D Platt
Aug 14, 2010·Nature Reviews. Immunology·Serge A van de Pavert, Reina E Mebius
Oct 13, 2006·Nature Biotechnology·Gary Walsh, Roy Jefferis
Jul 1, 2010·Journal of Ultrasound in Medicine : Official Journal of the American Institute of Ultrasound in Medicine·Yolanda M de MooijMireille N Bekker

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