Prenatal diagnosis of familial atretic encephalocele

This is the first pregnancy of a 22 years old healthy women from non-consanguineous marriage. A small 6 to 7mm occipital cystic mass was noted on anomaly scan at 17wk (figure 1). Amniocentesis was performed at 20 weeks gestation for conventional cytogenetics revealed normal karyotype 46,XX. Array comparative genomic hybridization (aCGH) showed arr[GRCh37] 5q35.2(173909361_175173029)x1 of maternal inheritance. This article is protected by copyright. All rights reserved.