Two- and Three-dimensional Ultrasound Characteristics of Fetus with Epidermolysis Bullosa

IntroductIonThe global incidence of epidermolysis bullosa (EB) is 1 in every 20,000 live births, 1 with it affecting 1 in every 51,000 live births 2 in the United States.Conventional twodimensional (2D) sonographic characteristics of fetal EB are echogenic amniotic fluid ("snowflake sign"), 3 "chorioamniotic membrane separation," 4 membranous protrusion of skin, 5,6 and a floating light band. 6However, there has been no report to date on direct three-dimensional (3D) ultrasound findings of fetal EB.Here, we present novel 2D/3D ultrasound signs with the adjunctive use of 3D ultrasound for the prenatal diagnosis of fetal EB in utero. case descrIptIonA 37-year-old pregnant Japanese woman, G5 P2 (nonconsanguineous couple; two sisters were healthy), underwent routine second-trimester fetal screening at 20 weeks and 1 day of gestation, and a membranous line echo "blister sign" on the inner sides of the bilateral thighs, "snowflake sign" in the amniotic cavity, and "chorioamniotic membrane separation" were evident based on 2D sonography (Fig. 1).A "snowflake sign" and waste-yarn-like echo ("wasteyarn sign") in the amniotic cavity, "chorioamniotic membrane 1,