Omphaloceles and Associated Malformations

2019-10-21 12:45:38 | BioPortfolio


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.


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.

Study Design




Department of Neonatology




University Hospital Tuebingen

Results (where available)

View Results


Published on BioPortfolio: 2019-10-21T12:45:38-0400

Clinical Trials [0 Results]


PubMed Articles [6 Associated PubMed Articles listed on BioPortfolio]

Omphalocele at school age: What do parents report? A call for long-term follow-up of complex omphalocele patients.

Many children with omphalocele experience morbidity in early life, which could affect long-term outcomes. We determined parent-reported outcomes in school-aged children treated for minor or giant omph...

Body wall defects and amniotic band syndrome in pig (Sus scrofa domesticus).

The amniotic band syndrome is a congenital condition. It is characterized by the presence of fibrous amniotic bands that may entangle or entrap different foetal parts in utero, resulting in deformatio...

Paternal uniparental disomy for chromosome 14: prenatal management.

We present a case of a 34-year-old multiparous woman who had been diagnosed with a 14 weeks' gestation showing an abdominal wall bulge possibly representing an omphalocele, containing liver and intest...

A prenatally diagnosed case of Donnai-Barrow syndrome: Highlighting the importance of whole exome sequencing in cases of consanguinity.

Donnai-Barrow syndrome (DBS) is an autosomal recessive disorder characterized by typical craniofacial features, vision and hearing loss, intellectual disability, agenesis of the corpus callosum (ACC),...

Umbilical reconstruction: different techniques, a single aim.

The umbilicus is a unique physiologic scar of human life resulting from the healing process of the cut umbilical cord at birth. Its absence leads to an unnatural abdominal appearance, and an abnormall...

Medical and Biotech [MESH] Definitions

A congenital defect with major fissure in the ABDOMINAL WALL lateral to, but not at, the UMBILICUS. This results in the extrusion of VISCERA. Unlike OMPHALOCELE, herniated structures in gastroschisis are not covered by a sac or PERITONEUM.

Rare congenital deformity syndrome characterized by a combination of five anomalies as a result of neural tube defect. The five anomalies are a midline supraumbilical abdominal wall defect (e.g., OMPHALOCELE), a lower STERNUM defect, a congenital intracardiac defect, an anterior DIAPHRAGM defect, and a diaphragmatic PERICARDIUM defect (e.g., PERICARDIAL EFFUSION). Variants with incomplete and variable combinations of the defects are known. ECTOPIA CORDIS; CLEFT LIP; and CLEFT PALATE are often associated with the syndrome.

More From BioPortfolio on "Omphaloceles and Associated Malformations"

Quick Search

Relevant Topics

Congenital Diseases
Congenital conditions are those which are present from birth. They include structural deformities or loss of function in organs such as the <!--LGfEGNT2Lhm-->heart, gut or skeletal system. They can be corrected by <!--LGfEGNT2Lhm-->surgery, m...

Pediatrics is the general medicine of childhood. Because of the developmental processes (psychological and physical) of childhood, the involvement of parents, and the social management of conditions at home and at school, pediatrics is a specialty. With ...

Asthma COPD Cystic Fibrosis Pneumonia Pulmonary Medicine Respiratory Respiratory tract infections (RTIs) are any infection of the sinuses, throat, airways or lungs.  They're usually caused by viruses, but they can also ...

Searches Linking to this Trial