Sonographic Diagnosis of Exencephaly: Omphalocele at 11 Weeks of Gestation

Abstract

This report presents a sonographic diagnosis of exencephaly combined with omphalocele at 11 weeks of gestation. The transvaginal ultrasound showed frog-eye appearance face with no skull, abnormal shape of disorganized brain with covering membrane separated from brain mass by anechoic fluid in some area, and omphalocele of 8 mm diameter. Therapeutic abortion was successfully done with misoprostol. Postabortal macroscopic findings confirmed the prenatal diagnosis. The combination of exencephaly and omphalocele is rare, and this is one of the earliest diagnosis of not only exencephaly but also omphalocele. To our best knowledge, this represents the earliest diagnosis of the combination. In conclusion, transvaginal ultrasound proved highly informative for both exencephaly and omphalocele as early as in first trimester.

Estudio epidemiológico sobre defectos de cierre del tubo neural. Detección del polimorfismo C677T en pacientes con mielomeningocele, del Hospital de Pediatría Juan P. Garrahan, sus madres y población general, entre los años 1999 y 2001

“…Sobre todo en este último caso es de gran utilidad caracterizar lo más estrictamente posible al defecto, para procurar las condiciones más adecuadas para el nacimiento e inmediato tratamiento, tendientes a disminuir al mínimo las secuelas neurológicas (484). Los métodos habitualmente utilizados para detección prenatal de DCTN son Alfa-fetoproteína (546) y Ecografía (135).…”