P02.09: Holoprosencephaly, cyclops and proboscis: 3D ultrasonographic case

Abstract

Objective: To describe the normal appearance and to study the biometry of the fetal cerebellar vermis (CV) by four-dimensional volume contrast imaging in the coronal plane (VCI-C). Methods: 203 normally developed fetuses were prospectively examined at gestational age between 18 and 33 weeks. At the level of the view used to measure the transverse cerebellar diameter, a transabdominal VCI plane was displayed at the vermis level. The volumes acquired were stored for later review and for measurement of the antero-posterior (AP) and cranio-caudal diameter (CC) of the CV. Each set of data was evaluated by two independent observers. Measurements as a function of gestational age (GA), biparietal diameter (BPD), head circumference (HC) and transverse cerebellar diameter (TCD) were expressed by regression equations. Interobserver variability was evaluated. Nomograms were produced. Intraclass correlation was used to evaluate the agreement between 2D and 3D measurements. Results: We were able to measure mid-saggital CC and AP in all fetuses. The examination of the interobserver variability showed no significant differences between the two observers (P > 0.05). CV measurements correlated linearly with GA, BPD, HC and TCD. Cranio-caudal and AP diameter estimated by 2D was significantly correlated with VCI-C measurements (r = 0.96; p < 0.00001 and r = 0.95; p < 0.00001 respectively). Conclusions: VCI-C plane is a valuable tool in the evaluation of the fetal CV. The nomograms developed enable accurate evaluation of the CV. VCI-C allows intrauterine assessment of the normal appearance of the cerebellar vermis.

Ciclopía en el Hospital Universitario del Valle (Cali, Colombia): reporte de cuatro casos nacidos y revisión de la literatura

“…En estos casos se debe realizar una ecografía de detalle anatómico para corroborar el diagnóstico y buscar otros defectos asociados. [20][21][22] Se debe tomar muestras para cariotipo fetal y además, a la madre, curva de tolerancia a la glucosa oral, e IgM para citomegalovirus. En condiciones ideales realizar estudios de biología molecular como PCR y FISH en los padres y en el recién nacido y así establecer si la mutación es nueva en el producto o heredada.…”