Chromosomal abnormalities and congenital defects associated with omphalocele

Authors

Keywords:

omphalocele, prevalence, prenatal diagnosis, congenital abnormalities, chromosome aberrations

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.

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Author Biographies

Noel Taboada Lugo, Centro Provincial de Genética Médica de Villa Clara

Especialista en I y II Grado en Medicina General Integral. Especialista en I y II Grado en Genética Clínica. Máster en Atención Integral al Niño. Profesor Auxiliar de Genética Médica en la Universidad de Ciencias Médicas de Villa Clara.

Ana Esther Algora Hernández, Centro Provincial de Genética Médica de Villa Clara

Especialista en I y II Grado en Genética Clínica. Profesora Auxiliar en la Universidad de Ciencias Médicas de Villa Clara.

María Elena de la Torre Santos, Centro Provincial de Genética Médica de Villa Clara

Especialista en I y II Grado en Genética Clínica. Profesora Auxiliar en la Universidad de Ciencias Médicas de Villa Clara.

Manuela Herrera Martínez, Universidad de Ciencias Médicas de Villa Clara

Especialista en I y II Grado en Genética Clínica. Doctora en Ciencias Médicas. Profesora Titular, Investigadora Titular en la Universidad de Ciencias Médicas de Villa Clara, Unidad de Investigaciones Biomédicas.

Gisela Noche González, Centro Provincial de Genética Médica de Villa Clara

Especialista de I y II Grado en Medicina General Integral. Especialista de I y II Grado en Genética Clínica. Máster en Asesoramiento Genético. Profesora Asistente en la Universidad de Ciencias Médicas de Villa Clara.

Gretsy Arcas Ermeso, Centro Provincial de Genética Médica de Villa Clara

Especialista de I y II Grado en Genética Clínica. Profesora Asistente en la Universidad de Ciencias Médicas de Villa Clara.

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Published

2022-04-04

How to Cite

1.
Taboada Lugo N, Algora Hernández AE, de la Torre Santos ME, Herrera Martínez M, Noche González G, Arcas Ermeso G. Chromosomal abnormalities and congenital defects associated with omphalocele. Acta Méd Centro [Internet]. 2022 Apr. 4 [cited 2025 Aug. 22];16(2):207-19. Available from: https://revactamedicacentro.sld.cu/index.php/amc/article/view/1486

Issue

Vol. 16 No. 2 (2022): April-June

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Original Articles

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