Bell Jane C, Raynes-Greenow Camille, Bower Carol, Turner Robin M, Roberts Christine L, Nassar Natasha
School of Public Health, University of Sydney, New South Wales, Australia.
Birth Defects Res A Clin Mol Teratol. 2013 Feb;97(2):101-8. doi: 10.1002/bdra.23110. Epub 2013 Feb 1.
The reported birth prevalence of orofacial clefts (OFCs) varies considerably. This study describes the epidemiology of OFCs in an Australian population.
We studied infants diagnosed with cleft lip, with or without cleft palate (CL±P), and cleft palate only (CPO) since 1980 and reported to the population based Western Australian Register of Developmental Anomalies. We calculated prevalence rates by sex, Aboriginal status, geographic location, and socio-economic status. Associations between clefts and folate availability, pregnancy characteristics, pregnancy outcomes, other congenital anomalies, and age at diagnosis were also investigated.
From 1980 to 2009, 917 infants with CL±P (12.05 per 10,000) and from 1980 to 2004, 621 infants with CPO (10.12 per 10,000) were registered. Prevalence rates for CL±P and CPO were 1.9 and 1.3 times higher, respectively, for Aboriginal Australians. Additional anomalies were reported for 31% of infants with CL±P and for 61% with CPO; chromosomal anomalies and other specific diagnoses accounted for 46% and 66%, respectively, of those with CL±P and CPO with additional anomalies. Almost all (99.7%) children with CL±P were diagnosed before 1 year of age, but 12% of CPO diagnoses were made after 1 year of age; 94% of these diagnoses were of submucous clefts and bifid uvula.
These data provide a picture of the prevalence of OFCs in WA since 1980, and provide a useful reference for OFC data in Australia and internationally. The quality and completeness of the WARDA data are high, reflected in high prevalence rates, and proportions of clefts occurring with other anomalies.
据报道,口面部裂隙(OFCs)的出生患病率差异很大。本研究描述了澳大利亚人群中OFCs的流行病学情况。
我们研究了自1980年以来被诊断为唇裂(伴或不伴腭裂,CL±P)和单纯腭裂(CPO)的婴儿,并向基于人群的西澳大利亚发育异常登记处报告。我们按性别、原住民身份、地理位置和社会经济地位计算患病率。还调查了腭裂与叶酸可利用性、妊娠特征、妊娠结局、其他先天性异常以及诊断年龄之间的关联。
1980年至2009年,登记了917例CL±P婴儿(每10000例中有12.05例),1980年至2004年,登记了621例CPO婴儿(每10000例中有10.12例)。澳大利亚原住民中CL±P和CPO的患病率分别高出1.9倍和1.3倍。31%的CL±P婴儿和61%的CPO婴儿报告有其他异常;染色体异常和其他特定诊断分别占CL±P和CPO合并其他异常婴儿的46%和66%。几乎所有(99.7%)CL±P儿童在1岁前被诊断,但12%的CPO诊断在1岁后做出;这些诊断中有94%为黏膜下腭裂和悬雍垂裂。
这些数据描绘了自1980年以来西澳大利亚OFCs的患病率情况,并为澳大利亚和国际上的OFC数据提供了有用的参考。西澳大利亚发育异常登记处(WARDA)数据的质量和完整性很高,这体现在高患病率以及与其他异常同时发生的腭裂比例上。