The primary objectives were to know the prevalences of pulmonary hypoplasia (PH), persistent pulmonary hypertension of the newborn (PPHN), and mortality in newborn infants with giant omphalocele (GO). A secondary aim was to assess the prevalence of syndromes and other congenital anomalies (SCA) associated with GO.

A systematic review according to PRISMA guidelines using MEDLINE/PubMed, Google Scholar, and Scopus platforms was performed. The search strategy combined indexed and in-process citations up to May 22, 2023.

Out of 651 articles, 23 met the inclusion criteria, comprising 14 observational studies and 9 case reports. There was no uniformity in the criteria for diagnosing PH and PPHN among the studies. In the observational studies, the prevalence of PH varied between 18.5 and 54% (median: 26%); the prevalence of PPHN varied between 13 and 100% (median: 38.5%); and mortality varied between 4 and 50% (median 23.5%). SCA were reported in 58% of patients. In the case series, PH was present in 27.8% of the neonates, PPHN in 50%, and mortality occurred in 55.5%. About 55.5% had associated SCA. The association of SCA and preterm birth contributed significantly to increase the mortality rate.

The reported prevalences of PH, PPHN, mortality, and SCA associated with GO are alarmingly high. Although the heterogeneity and limitations of the included studies prevent definitive prevalence estimates, the findings underscore the urgent need for standardized diagnostic criteria, better prenatal counseling, and management in highly specialized centers.

The data that support the findings of this study are available from the corresponding author, G.R., upon reasonable request.

Received: 14 October 2024

Accepted: 03 July 2025

Article published online:
17 July 2025

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