HDlive rendering image of cyclopia and a proboscis in a fetus with normal chromosomes at 32weeks of gestation.

Abstract

The HDlive rendering mode with both adjustable lighting and new skin-like colors gives the embryo and fetus a natural and anatomically realistic appearance, and there have been a few reports on antenatal 3D HDlive rendering images of fetal superficial abnormalities [1]. We present our first experience of cyclopia and a proboscis in a fetus with normal chromosomes at 32 weeks of gestation reconstructed employing the 3D HDlive rendering mode. A 34-year-old woman, gravida 4, para 3, was referred to our ultrasound clinic at 32 weeks of gestation because of fetal holoprosencephaly, fetal proboscis, suspected diaphragmatic hernia, suspected fetal growth restriction (FGR), and hydramnios. She had received insulin injections since 21 weeks of gestation during this pregnancy because of type 2 diabetes. Two-dimensional (2D) sonography (Voluson E8, GE Healthcare, Milwaukee, WI, USA) revealed fetal alobar holoprosencephaly, cyclopia, a proboscis, diaphragmatic hernia, ventricular septal defect, FGR [estimated fetal weight was 1,418 g (-1.6 SD)], and hydramnios. The 3D HDlive rendering mode (Voluson E8, GE Healthcare, Milwaukee, WI, USA; curved array transabdominal transducer, 2–8 MHz) clearly depicted cyclopia and a proboscis (Fig. 1). Amniocentesis was performed at 32 weeks and 4 days, and chromosome analysis showed 46XY. At 36 weeks of gestation, a male infant weighing 2,140 g was delivered vaginally, with an umbilical artery pH of 7.431, and Apgar scores of 4 and 2 at 1 and 8 min, respectively. The baby died 2 h after delivery. Permission to conduct an autopsy was not granted by the parents. However, postmorten examination of the neonate confirmed the presence of cyclopia and a proboscis (Fig. 2). The 3D HDlive rendering images of the fetal face are more readily discernible than those obtained by conventional 3D sonography because the 3D HDlive rendering mode provides such extraordinarily realistic imaging of the fetal face that it is almost impossible to differentiate between actual photographs and HDlive scans [2]. In the present case, the 3D HDlive rendering mode showed the same anatomically realistic images with macroscopic findings of cyclopia and a proboscis. The 3D HDlive rendering mode has the potential to supplement conventional 2D ultrasound in diagnosing fetal facial anomalies, and it can assist in the prenatal understanding of the diagnostic challenges of complicated fetal facial anomalies [1].