Birth Prevalence and Survival of Exomphalos in England and Wales: 2005 to 2011

作者：Springett Anna; Draper Elizabeth S; Rankin Judith; Rounding Catherine; Tucker David; Stoianova Sylvia; Wellesley Diana; Morris Joan K^*

来源：Birth Defects Research Part A: Clinical and Molecular Teratology , 2014, 100(9): 721-725.

DOI：10.1002/bdra.23301

• prevalence
• survival
• exomphalos
• omphalocele
• prenatal diagnosis

Background: Exomphalos occurs in 2.2 per 10,000 births with 76% of these babies surviving to discharge. The aim of this study was to determine the birth prevalence and survival of babies with this anomaly in England and Wales. Methods: Six BINOCAR regional congenital anomaly registers in England and Wales (covering 36% of births) between 2005 and 2011 provided cases for this study. Cases included live births, stillbirths (241 weeks%26apos; gestation), late miscarriages (20-23 weeks%26apos; gestation), and terminations of pregnancy with fetal anomaly. Results: The overall birth prevalence was 3.8 (95% confidence interval [CI]: 3.6-4.0) per 10,000 births; 1.4 (1.2-1.6) for isolated cases, 1.2 (1.1-1.4) for cases with multiple anomalies, and 1.2 (1.1-1.4) for cases with chromosomal anomalies. The live birth prevalence was 0.8 (0.7-0.9), 0.5 (0.4-0.6), and 0.1 (0.0-0.1) per 10,000 live births, respectively. Edwards syndrome, congenital heart defects, and nervous system anomalies were the most common anomalies associated with exomphalos. A prenatal diagnosis was made in 83% of isolated, 95% of multiple, and 99% of chromosomal cases. Fifty-five percent of isolated and multiple cases were live born, whereas 85% of cases with chromosomal anomalies resulted in a termination of pregnancy with fetal anomaly. The 1-year survival of live born babies with an isolated exomphalos was 92% compared with 81% in cases with multiple anomalies and 27% in cases with chromosomal anomalies (p%26lt;0.001). Conclusion: We report a higher birth prevalence than has previously been reported. The proportion of infants surviving with exomphalos remained unchanged over the time period.

• 出版日期2014-9