Increased nuchal translucency origins from abnormal lymphatic development and is independent of the presence of a cardiac defect.

Prenatal Diagnosis
Nicole B BurgerMonique C Haak

Abstract

To assess whether cardiac failure, because of cardiac defects, and abnormal jugular lymphatic development are involved in nuchal edema (NE) - the morphological equivalent of increased nuchal translucency - in various euploid mutant mouse models. Mouse embryos with lymphatic abnormalities and NE (Ccbe1(-/-)), with cardiac defects and NE (Fkbp12(-/-), Tbx1(-/-), Chd7(fl/fl);Mesp1Cre, Jarid2(-/-NE+)) and with cardiac malformations without NE (Tbx2(-/-), Pitx2(-/-), Fgf10(-/-), Jarid2(-/-NE-)) were examined. Embryos were analyzed from embryonic day 11.5 to 15.5. Markers for lymphatic vessels, endothelium, smooth muscle cells and nerves were used to study the nuchal region. Hematoxylin-Azophloxine staining was performed to examine cardiac morphology. Mouse embryos with lymphatic abnormalities and NE (Ccbe1(-/-)) showed no formation of the jugular lymphatic sac but normal cardiac morphology. In mouse embryos with cardiac defects and NE (Fkbp12(-/-), Tbx1(-/-), Chd7(fl/fl);Mesp1Cre, Jarid2(-/-NE+)) enlarged jugular lymphatic sacs or large nuchal cavities within the NE were found. In mouse embryos with a cardiac malformation without NE (Tbx2(-/-), Pitx2(-/-), Fgf10(-/-), Jarid2(-/-NE-)) normal jugular lymphatic sacs were observed. NE c...Continue Reading

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Citations

Mar 23, 2017·American Journal of Medical Genetics. Part a·Martina A SteurerLaura L Jelliffe-Pawlowski
Oct 14, 2017·Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology·M EgloffV Malan
May 19, 2019·Congenital Anomalies·Ayako OhgaTetsuya Takakuwa

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