In F20, a male fetus with increased nuchal translucency (>3.5 mm), tricuspid regurgitation and abnormal legs and feet with an extended posture and bilateral talipes equinovarus anomaly, we found c.3490G>T (p.1164G>C) in COL2A1 (MIM 120140, ENST00000380518). The gene discussed is COL2A1; the disease is Tricuspid regurgitation.