Given the normal results of both the karyotype and array‐CGH, exome sequencing was proposed using the amniotic fluid obtained through amniocentesis, which identified a de novo heterozygous c.4109A>G (p.Tyr1370Cys) variant in the COL3A1 gene, associated with vEDS. The gene discussed is COL3A1; the disease is Ehlers-Danlos syndrome, vascular type.