Shaw Gary M, Carmichael Suzan L, Yang Wei, Harris John A, Lammer Edward J
March of Dimes Birth Defects Foundation, California Birth Defects Monitoring Program, Oakland, California 94710, USA.
Am J Med Genet A. 2004 Mar 15;125A(3):250-6. doi: 10.1002/ajmg.a.20508.
Few population-based epidemiologic data are available on malformation phenotypes that co-occur with orofacial clefts. We explored the occurrence of structural congenital malformations in offspring with cleft palate (CP) and in offspring with cleft lip with or without CP (CLP), using data from a population-based active surveillance system. Ascertainment was performed among 3548991 liveborn and 23239 stillborn offspring of California women who delivered in nonmilitary hospitals during the period, 1983-1997. Structural congenital malformations were found in 91888 births. Among them, 2343 had CP and 4072 had CLP. Malformations were grouped according to 3- and 4-digit codes of the British Pediatric Association (BPA). Prevalences of each malformation grouping, defined by these codes, were calculated among: (1). all births with CP; (2). all births with CLP; (3). all births without CP or CLP but with another structural malformation; and (4). all births in the population at risk. These various prevalence measures were the basis of estimating relative risks. Observed relative risks indicated that some phenotypes were more likely and some were less likely to co-occur with either CP or CLP, with relative risks ranging from 0.5 to 2.4. For both CP and CLP, estimated relative risks were highest for malformations involving the respiratory system and lowest for spina bifida. The exclusion of all births (n = 10702) with chromosomal anomalies from comparisons did not materially alter observed relative risk estimates. Computations extended to 4-digit level BPA codes revealed elevated risks for a number of more specific diagnoses seen within the larger (3-digit level) groupings defined as eye, ear, respiratory, upper alimentary tract, and other musculoskeletal anomalies. In this large population-based cohort of infants and fetuses with CLP or CP, we observed several noncleft malformation groupings to be more common and others to be less common in their co-occurrence with orofacial clefts relative to their co-occurrence with any other malformation. These observed patterns tended to be similar for CP and for CLP.
关于与口面部裂隙同时出现的畸形表型，基于人群的流行病学数据很少。我们利用基于人群的主动监测系统的数据，探究了腭裂（CP）患儿及唇裂伴或不伴腭裂（CLP）患儿中结构先天性畸形的发生情况。在1983年至1997年期间于加利福尼亚州非军事医院分娩的妇女所生的3548991例活产儿和23239例死产儿中进行了确诊。在91888例出生中发现了结构先天性畸形。其中，2343例患有CP，4072例患有CLP。畸形根据英国儿科学会（BPA）的3位和4位编码进行分组。在以下情况中计算了由这些编码定义的每个畸形分组的患病率：（1）所有患有CP的出生；（2）所有患有CLP的出生；（3）所有没有CP或CLP但有其他结构畸形的出生；（4）所有处于危险人群中的出生。这些不同的患病率测量值是估计相对风险的基础。观察到的相对风险表明，某些表型与CP或CLP同时出现的可能性更高，而某些则更低，相对风险范围为0.5至2.4。对于CP和CLP，涉及呼吸系统的畸形的估计相对风险最高，而脊柱裂的相对风险最低。在比较中排除所有患有染色体异常的出生（n = 10702）并没有实质性改变观察到的相对风险估计值。扩展到4位水平BPA编码的计算显示，在定义为眼、耳、呼吸、上消化道和其他肌肉骨骼异常的较大（3位水平）分组中看到的一些更具体诊断的风险升高。在这个以人群为基础的CLP或CP婴儿和胎儿队列中，我们观察到相对于与任何其他畸形同时出现的情况，几种非腭裂畸形分组在与口面部裂隙同时出现时更常见，而其他分组则不那么常见。对于CP和CLP，这些观察到的模式往往相似。
