Springett Anna, Draper Elizabeth S, Rankin Judith, Rounding Catherine, Tucker David, Stoianova Sylvia, Wellesley Diana, Morris Joan K
Centre for Environmental and Preventive Medicine, Queen Mary University of London, London.
Birth Defects Res A Clin Mol Teratol. 2014 Sep;100(9):721-5. doi: 10.1002/bdra.23301. Epub 2014 Sep 1.
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.
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 (24+ weeks' gestation), late miscarriages (20-23 weeks' gestation), and terminations of pregnancy with fetal anomaly.
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 < 0.001).
We report a higher birth prevalence than has previously been reported. The proportion of infants surviving with exomphalos remained unchanged over the time period.
腹裂的发生率为每10000例出生中有2.2例，其中76%的婴儿存活至出院。本研究的目的是确定英格兰和威尔士患有这种异常的婴儿的出生患病率和存活率。
2005年至2011年期间，英格兰和威尔士的六个BINOCAR地区先天性异常登记处（覆盖36%的出生人口）为本研究提供了病例。病例包括活产、死产（妊娠24周以上）、晚期流产（妊娠20 - 23周）以及因胎儿异常而终止妊娠的情况。
总体出生患病率为每10000例出生中有3.8例（95%置信区间[CI]：3.6 - 4.0）；孤立病例为1.4例（1.2 - 1.6），多发畸形病例为1.2例（1.1 - 1.4），染色体异常病例为1.2例（1.1 - 1.4）。每10000例活产中的患病率分别为0.8例（0.7 - 0.9）、0.5例（0.4 - 0.6）和0.1例（0.0 - 0.1）。爱德华兹综合征、先天性心脏缺陷和神经系统异常是与腹裂相关的最常见异常。83%的孤立病例、95%的多发畸形病例和99%的染色体异常病例进行了产前诊断。55%的孤立病例和多发畸形病例为活产，而85%的染色体异常病例因胎儿异常而终止妊娠。孤立性腹裂活产婴儿的1年存活率为92%，多发畸形病例为81%，染色体异常病例为27%（p < 0.001）。
我们报告的出生患病率高于先前报道。在此期间，腹裂存活婴儿的比例保持不变。
