Anatomic parameters of omphaloceles and their association with anatomic, genetic, or syndromic malformations : a retrospective study

Article Article scientifique Article Anatomic parameters of omphaloceles and their association with anatomic, genetic, or syndromic malformations : a retrospective study eng 2024-05-23 2024-05-23 author Parata Gallien Service médico-chirurgical de pédiatrie, Hôpital du Valais, Sion, Switzerland. author Vial Yvan Service of Obstetrics, Department of Woman-Mother-Child, University Medical Centre CHUV, Lausanne, Switzerland. author Addor Marie-Claude Service of Genetics, Department of Woman-Mother-Child, University Medical Centre CHUV, Lausanne, Switzerland. author Pellegrinelli Capucine Chantal Marie Division of Obstetrics, Department of Pediatrics, Gynecology, and Obstetrics, University Hospital of Geneva, Geneva, Switzerland. 414755 author Wildhaber Barbara Division of Child and Adolescent Surgery, Department of Pediatrics, Gynecology, and Obstetrics, Geneva University Hospitals, University of Geneva, 6, Rue Willy Donzé, 1205, Geneva, Switzerland. barbara.wildhaber@hcuge.ch. 595596 Département de Pédiatrie, Gynécologie et Obstétrique (PETRI) 136 10.1007/s00383-024-05717-w 38780818 0179-0358 PMC11116210 https://link.springer.com/article/10.1007/s00383-024-05717-w 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. Anomalies Classification Defect Omphalocele Size Humans Hernia, Umbilical / genetics Retrospective Studies Female Pregnancy Infant, Newborn Abnormalities, Multiple / genetics Syndrome Male Switzerland / epidemiology Live Birth / genetics Fetal Death / etiology Registries Dewey 618 58 Département de pédiatrie, gynécologie et obstétrique 223 false 546 Recherche clinique en chirurgie pédiatrique 886 Pediatric surgery international 40 1 c524704a-f2ed-4357-8593-0e1bbe6fe465 Article (Published version) Public Article_scientifique_from_unpaywall.pdf 830414 application/pdf CC BY-4.0 e6789bff25274931e3d2f73b85604b52aee8ba9d22a321981aa3b70f95351f7a openAccess Faculté de médecine / Section de médecine clinique / Département de pédiatrie, gynécologie et obstétrique

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Anatomic parameters of omphaloceles and their association with anatomic, genetic, or syndromic malformations : a retrospective study	Pediatric surgery international			2024	10	58

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Pellegrinelli, Capucine Chantal Marie