Cardiac defects, nuchal edema and abnormal lymphatic development are not associated with morphological changes in the ductus venosus

Burger, Nicole B.; Haak, Monique C.; Kok, Evelien; Groot, Christianne de; Shou, Weinian; Scambler, Peter J.; Lee, Youngsook; Cho, Eunjin; Christoffels, Vincent M.; Bekker, Mireille N.

doi:10.1016/j.earlhumdev.2016.05.017

Cited by 3 publications

(1 citation statement)

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“…T-box transcription factor 1 (TBX1) regulates the later process such as chamber septation (Paige et al, 2015). Knockout mice for Tbx1 or double heterozygous knockout mice for Gata4 and Gata6 exhibit fetal nuchal edema with ventricular septal defect (VSD) and persistent truncus arteriosus (PTA) (Vitelli et al, 2002;Xin et al, 2006; Frontiers in Cell and Developmental Biology frontiersin.org Burger et al, 2016). Loss-of-function mutation in the Dock1 gene encoding an atypical Rac activator causes fetal nuchal edema with VSD and double outlet right ventricle (DORV) (Sanematsu et al, 2010).…”

Section: Cardiac Anomalymentioning

confidence: 99%

Fetal nuchal edema and developmental anomalies caused by gene mutations in mice

Sugiyama

Hirashima²

2022

Front. Cell Dev. Biol.

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Fetal nuchal edema, a subcutaneous accumulation of extracellular fluid in the fetal neck, is detected as increased nuchal translucency (NT) by ultrasonography in the first trimester of pregnancy. It has been demonstrated that increased NT is associated with chromosomal anomalies and genetic syndromes accompanied with fetal malformations such as defective lymphatic vascular development, cardiac anomalies, anemia, and a wide range of other fetal anomalies. However, in many clinical cases of increased NT, causative genes, pathogenesis and prognosis have not been elucidated in humans. On the other hand, a large number of gene mutations have been reported to induce fetal nuchal edema in mouse models. Here, we review the relationship between the gene mutants causing fetal nuchal edema with defective lymphatic vascular development, cardiac anomalies, anemia and blood vascular endothelial barrier anomalies in mice. Moreover, we discuss how studies using gene mutant mouse models will be useful in developing diagnostic method and predicting prognosis.

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