Short summary

The project investigates gastroschisis and omphalocele, through three studies. Study 1 analyzes national data to determine prevalence and outcomes. Study 2 examines prenatal ultrasound findings to predict postnatal prognosis. Study 3 involves qualitative interviews with parents to understand their decision-making process. The overall goal is to improve prenatal counseling for affected families.

Rationale

Gastroschisis and omphalocele are the most common congenital abdominal wall defects. In Denmark, the prevalence is around 0.8 per 1000 pregnancies. The etiology of these defects is often described as errors during the embryologic development of the fetal abdominal wall. Gastroschisis is a paraumbilical defect with bowel protrusion not covered by a membranous sac, while omphalocele involves herniation of abdominal contents into a membranous sac through the base of the umbilicus. These conditions have different clinical manifestations and outcomes. Gastroschisis is generally an isolated malformation, whereas omphalocele is often associated with other structural anomalies or genetic syndromes. Most fetuses with these conditions are diagnosed prenatally through ultrasound examinations. Gastroschisis and omphalocele require multidisciplinary approaches to patient care, involving fetal medicine specialists, neonatologists, pediatric surgeons, and geneticists. Prenatal counseling is crucial for enabling parents to make informed decisions regarding the pregnancy. The overall aim of this Ph.D. study is to gain more knowledge about gastroschisis and omphalocele to improve care and treatment for children with gastroschisis and omphalocele and enhance the multidisciplinary counseling of parents expecting fetuses with these conditions.

Description of the cohort

For the project, three different data materials are used. For Study 1, national patient data obtained from the RKKP database; FØTO 2 is used, with the diagnoses gastroschisis and omphalocele. The expected number of patients is 800. For Study 2, data from two OUH databases are merged; Gastropæd and Astraia with the diagnoses gastroschisis and omphalocele. The expected number of patients is 110. For Study 3, a qualitative study, data is collected from 16 pairs of parents expecting a child with gastroschisis or omphalocele and assessed at OUH, for a semi-structured interview.

Data and biological material

For the project, three different data materials are used. For Study 1, data regarding demographics, diagnosis, and postnatal outcomes are collected from the RKKP database, specifically FØTO 2. For Study 2, data for children with gastroschisis and omphalocele, including prenatal ultrasound findings, associated anomalies, and genetic information, are collected from two OUH databases: Gastropæd and Astraia. For Study 3, data are collected from 16 pairs of parents expecting a child with gastroschisis or omphalocele and assessed at OUH through semi-structured interviews. These interviews focus on involvement in and satisfaction with the decision-making process, as well as information about the treatment and management of the pregnancy, birth, and postnatal course.

Collaborating researchers and departments

Department D, Odense University Hospital

• Lene Sperling
• Karina Hjort-Pedersen
• Ellen Aagaard Nøhr

department H, Odense University Hospital

• Gitte Zachariassen
• Kristina Garne holm
• Genetic department, Odense University Hospital
• Pernille Tørring
• Department A, Odense University Hospital
• Mark Ellebæk