A Case of Edward Syndrome / 대한산부인과학회잡지

ABSTRACT

Trisomy 18, called Edward syndrome, occurs in about 3500-8000 births. It is much more common at conception, with about 95% of cases resulting in spontaneous abortion or stillbirth. Postnatal survival is poor, with the majority of patients dying in early infancy. Characteristic findings include cardiac malformations, mental retardation, growth retardation, a prominent occiput, micrognathia, clenched hands, and rocker-bottom feet, omphalocele. The prenatal sonographic findings of our case include delayed growth, omphalocele, wrist joint fixation, choroid plexus cyst, hydramnios and postnatal gross findings include growth retardation, omphalocele, wirst joint fixation, absence of radius, syndactyly, focal absence of phalanges and flexion deformities of fingers and toes. We report a case of prenatally diagnosed Edward syndrome, which is confirmed by chromosome analysis, with brief review of related literatures.