Arimatias Raitio1,2, Asta Tauriainen3, Johanna Syvänen1,2, Teemu Kemppainen4,5, Eliisa Löyttyniemi4,5, Ulla Sankilampi6, Kari Vanamo7, Mika Gissler8,9, Anna Hyvärinen10,11, Ilkka Helenius1,2. 1. Department of Paediatric Surgery and Orthopaedics, Turku University Hospital, Turku, Finland. 2. Department of Paediatric Surgery and Orthopaedics, University of Turku Faculty of Medicine, Turku, Finland. 3. Department of Paediatric Surgery, KYS, Kuopio, Finland. 4. Department of Biostatistics, University of Turku, Turku, Finland. 5. Department of Biostatistics, Turku University Hospital, Turku, Finland. 6. Department of Paediatrics, Kuopio University Hospital, Kuopio, Finland. 7. Department of Paediatric Surgery, Kuopio University Hospital, Kuopio, Pohjois-Savo, Finland. 8. Department of Information Services, National Institute for Health and Welfare, Helsinki, Finland. 9. Department of Neurobiology, Karolinska Institute, Stockholm, Stockholm County, Sweden. 10. Department of Paediatric Surgery, Tampere University Hospital, Tampere, Finland. 11. Department of Medicine, Tampere University Faculty of Medicine, Tampere, Finland.
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. Thieme. All rights reserved.
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. Thieme. All rights reserved.