Anatomic parameters of omphaloceles and their association with anatomic, genetic, or syndromic malformations: a retrospective study
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In brief
In brief
This retrospective study of 162 omphalocele cases examines anatomical parameters and their correlation with associated malformations and genetic anomalies. Findings show that termination of pregnancy occurred more frequently with non-isolated omphaloceles, but omphalocele size and liver involvement did not predict associated anomalies in live births.
- Non-isolated omphaloceles (with cardiovascular/genitourinary malformations, genetic anomalies, or syndromes) had significantly higher termination rates.
- Omphalocele size and liver involvement do not predict the presence or severity of associated malformations or chromosomal anomalies in live births.
- 35% of omphalocele cases resulted in live birth, while 56% underwent termination due to associated major anomalies.
- Cardiovascular and genitourinary malformations are the most common anatomical associations with omphalocele.
- Anatomic parameters alone are insufficient for prenatal counseling; comprehensive genetic and anatomical evaluation is essential.
Written by the GCMD Library team from the article.
Abstract
Purpose
This retrospective study aims to describe anatomical parameters of omphaloceles and to analyze their association with anatomical, genetic, or syndromic malformations.
Methods
Cases were selected from digital records of two university centers, a certified regional registry and personal records. Patients from 1998 to 2018 with omphalocele and live birth (LB), termination of pregnancy due to fetal anomaly (TOPFA) and fetal death (FD) were included. Cases born outside Western Switzerland and/or with upper or lower coelosomy were excluded.
Results
We analyzed 162 cases with the following distribution: 57 (35%) LB, 91 (56%) TOPFA and 14 (9%) FD. TOPFA was significantly more frequently performed in cases with non-isolated omphalocele, i.e., omphaloceles with associated major malformations (especially cardiovascular and genitourinary), genetic/chromosomal anomalies, or syndromes. For LB, associated anatomical malformations, genetic or chromosomal anomalies were not significantly associated with the size of the omphalocele or the liver involvement.
Conclusions
The proportion of cases resulting in TOPFA was higher among fetuses with major malformations, genetic or chromosomal anomalies. Despite the large size of this cohort, and in contrary to previous publications, the size of the omphalocele and/or liver involvement does not allow for conclusions regarding the presence or number of associated malformations, genetic or chromosomal anomalies.