Omphaloceles and Associated Malformations

Study Overview
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Brief Summary
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Major birth defects like omphalocele are diagnosed in 3-8% of all newborns in Germany each year. Prevention and treatment quality of congenital malformations are key concerns for child health. Poor long-term outcome is more likely in the presence of associated structural or chromosomal abnormalities that occur in approximately 50-77% of these infants. Furthermore, many newborns have respiratory failure and supposedly pulmonary hypertension - another reason for increased mortality. As part of the Surveillance Unit for Rare Pediatric Conditions in Germany (Erhebungseinheit für seltene pädiatrische Erkrankungen in Deutschland), all neonatological departments receive over two years monthly reporting cards to notify the study centre of cases, which will be analysed based on anonymised questionnaires.

Detailed Description
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An observational study using anonymized questionnaires, enrolled over two years (01/07/2019 - 30/06/2021) via the Surveillance Unit for Rare Pediatric Conditions in Germany (ESPED - Erhebungseinheit für seltene pädiatrische Erkrankungen in Deutschland). The nationwide epidemiological data collection contents information about the incidence of omphalocele, associated malformations and risk factors for the occurrence of omphalocele, especially for pulmonary hypertension and its treatment. We use the following inclusion criteria: preterm and term babies' ≤ 28 days of life. The aim of our study is a reliable, population-related data acquisition about prevalence of omphalocele, associated malformations and possible risk factors and characteristic early warning symptoms regarding concomitant diseases. Thereby, in the future it will be possible to develop prevention strategies für early detection and treatment of omphalocele and the associated malformations/ diseases to improve outcome for these babies. A further aim is to follow-up the thriving and the psychomotor development of these babies in the age of two years.

Official Title
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Omphaloceles and Associated Malformations in Preterm and Term Newborns

Conditions
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Omphalocele

Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: preterm and term newborns ≤ 28 days present omphalocele Exclusion Criteria: none

Ages Eligible for Study
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Maximum Age: 28 Days

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Number of patients with Omphalocele | Collection of data to calculate the prevalence of omphaloceles | two years | 
| Number of patients with omphaloceles and associated malformations, especially pulmonary hypertension | Collection of data to calculate the prevalence of omphalocele associated malformations | two years | 
| Two-years outcome | Monitoring of weighting and thriving and of psychomotor development on the basis of a general developmental screening tool (ages & stages questionnaire) | two years |