Aberraciones cromosómicas y defectos congénitos asociados al onfalocele

Abstract

Introduction: omphalocele is one of the most frequent defects of anterior abdominal wall. Objectives: to determine the adjusted prevalence rate and to describe the effectiveness of prenatal diagnostic methods, chromosomal abnormalities and congenital defects most frequently associated with omphalocele. Methods: a retrospective descriptive observational study was carried out in Villa Clara Province between January 2010 and December 2019. Data were obtained from the Cuban registry of congenital malformations. The universe was constituted by the 26 cases diagnosed pre or postnatally with omphalocele. The reference population was 75 397 live newborns and 448 stillbirths during the period. Results: the adjusted prevalence rate was 3.4 per 10 000 births. Prenatal diagnosis was made in 96% of cases, the sensitivity of maternal serum alpha fetoprotein determination was 13.8%, while prenatal ultrasound had a sensitivity of 96%. In 12 of the 26 cases with omphalocele (46%) some other associated major congenital defect was found, the most frequently identified were musculoskeletal (31.8%) and cardiovascular (22.7%). Conclusions: the adjusted prevalence observed was slightly higher than that reported in the literature, which could be due to the inclusion of all cases resulting from gestational interruptions. Ultrasound was the most effective method of prenatal diagnosis. Musculoskeletal and cardiovascular defects were the most frequently associated, especially in cases with chromosomal aneuploidy.

Keywords

• onfalocele
• prevalencia
• diagnóstico prenatal
• anomalías congénitas
• aberraciones cromosómicas