Omphalocele in Finland from 1993 to 2014: Trends, Prevalence, Mortality, and Associated Malformations—A Population-Based Study

Abstract

Inroduction The aim of this study is to assess the changes in prevalence, mortality and termination pregnancy of omphalocele, and to identify associated anomalies. Materials and Methods A population-based nationwide register study. All cases with omphalocele were identified in the Finnish Register of Congenital Malformations and the Care Register for Health Care from 1993 to 2014 including live births, stillbirths, and terminations of pregnancy due to fetal anomalies. Associated anomalies were recorded and analyzed, and perinatal and infant mortality and prevalence were calculated. Results There were 600 cases with omphalocele including 229 live births, 39 stillbirths, and 332 (55%) abortions. Birth prevalence in Finland was 1.96 per 10,000 births with no consistent trend over time. However, total prevalence was much higher (4.71/10,000) because more than half of these families chose option for the termination of pregnancy. Omphalocele is often complicated with other anomalies; most commonly chromosomal abnormalities (9.3%), heart defects (6.3%), central nervous system anomalies (3.0%), gastrointestinal, and urogenital malformations (both 2.0%). Proportion of chromosomal and central nervous system abnormalities were even higher in terminated pregnancies. Overall infant mortality was 22%. Total 1-year survival rates for isolated omphalocele, cases with multiple anomalies and neonates with chromosomal defects were 80, 88, and 17%, respectively. Conclusion Omphalocele is a rare congenital anomaly, often associated with other malformations. Our data suggest that isolated cases may be more common than previously thought. In the absence of chromosomal defects, survival is reasonably good. Regardless, more than half of these pregnancies are often terminated.

Long-term hospital admissions and surgical treatment of children with congenital abdominal wall defects: a population-based study

“…Omphalocele, on the other hand, was associated with over fivefold risk of inpatient stay, which is comparable with English national hospital admission data on patients with cleft lip and/or palate [13]. We postulate that the greater number of hospital admissions in omphalocele is likely a reflection of the greater number of associated anomalies and syndromes often seen in these patients [2,[24][25][26].…”

“…Major congenital anomalies, including gastroschisis and omphalocele, have an impact on the quality and length of life of affected individuals. Both these aforementioned abdominal wall defects (AWDs) are relatively rare congenital anomalies with respective prevalences of 1.85 and 1.96 per 10,000 births in Finland [1,2]. Gastroschisis often presents as an isolated anomaly [1,3] and has good long-term outcomes, and abdominal reoperations are rarely required [4].…”

“…Gastroschisis often presents as an isolated anomaly [1,3] and has good long-term outcomes, and abdominal reoperations are rarely required [4]. Omphalocele, on the other hand, is often associated with other severe comorbidities including chromosomal abnormalities and cardiac defects [2,5,6]. Consequently, up to 60% of patients with giant omphalocele suffer from persistent medical problems [7,8].…”

Congenital abdominal wall defects and cryptorchidism: a population-based study

“…Abdominal wall defects (AWDs), notably gastroschisis and omphalocele, are relatively rare congenital anomalies with a prevalence of 1.85 and 1.96 per 10,000 births in Finland, respectively [1,2]. Total prevalence of these anomalies has increased in Finland since previous rates published in 1980s [3].…”

“…Total prevalence of these anomalies has increased in Finland since previous rates published in 1980s [3]. Due to over 50% termination rate for omphalocele, however, increased live birth prevalence has only been observed in gastroschisis [1,2]. In most cases, gastroschisis in an isolated anomaly [1,4,5], whereas omphalocele is often associated with other severe anomalies including chromosomal abnormalities and cardiac defects [2,6,7].…”