北美病例对照研究中母亲因素与小耳畸形/无耳畸形侧别差异的关联

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中文摘要

背景： 单侧或双侧耳先天性发育不良（小耳畸形/无耳畸形）是颅面短小症（CFM）最常见的组成部分。尽管右侧更常受累，但侧别的社会决定因素仍研究不足。
方法： 利用一项1996-2002年北美多中心CFM病例对照研究，我们评估了母亲围受孕期吸烟、妊娠意愿、妊娠确认时间、教育程度和孕前体重指数与小耳畸形/无耳畸形的关联，包括总体及按侧别分析。病例为在颅面中心识别的137名<36月龄的小耳畸形/无耳畸形儿童；每个病例最多匹配4名对照（n=678），按居住地、确认时年龄和日历时间匹配。暴露信息来自母亲访谈。我们进行条件logistic回归，并调整母亲年龄和教育程度，以估计比值比（OR）和95%CI。
结果： 137例病例中，51例（37%）为左侧，61例（45%）为右侧，11例（8%）为双侧，14例（10%）侧别未知。吸烟、较晚确认妊娠、较低教育程度和肥胖的总体点估计升高，但置信区间较宽。左侧OR分别为：吸烟2.16（95%CI：0.88-5.30）；非计划妊娠1.36（95%CI：0.67-2.78）；末次月经后>9周确认妊娠（对比<5周）3.64（95%CI：0.95-14.03）；教育<12年（对比≥16年）5.24（95%CI：1.47-18.68）；肥胖（对比正常体重）1.65（95%CI：0.58-4.63）。相应的右侧OR分别为1.28、1.00、1.63、2.11和1.24。
结论： 若干母亲因素与小耳畸形/无耳畸形呈轻度关联，且左侧畸形的估计值始终大于右侧。这些发现提供了有限证据，提示小耳畸形/无耳畸形的病因可能因侧别而异，并需要在更大规模研究中加以确认。

英文摘要

BACKGROUND: Congenital underdevelopment of one or both ears (microtia/anotia) is the most common component of craniofacial microsomia (CFM). Although the right side is more commonly affected, social determinants of laterality remain understudied.
METHODS: Using a multicenter North American case-control study of CFM (1996-2002), we evaluated associations between maternal periconceptional cigarette smoking, pregnancy intention, timing of pregnancy recognition, education, and prepregnancy body mass index with microtia/anotia, overall and by laterality. Cases were 137 children < 36 months with microtia/anotia identified at craniofacial centers; up to 4 controls per case (n = 678) were matched on residence, age at ascertainment, and calendar time. Exposures were ascertained from maternal interviews. We performed conditional logistic regression adjusted for maternal age and education to estimate odds ratios (ORs) and 95% CIs.
RESULTS: Among 137 cases, 51 (37%) were left-sided, 61 (45%) right-sided, 11 (8%) bilateral, and 14 (10%) unknown. Point estimates for smoking, later pregnancy recognition, lower education, and obesity were elevated overall, though confidence intervals were wide. Left-sided ORs were smoking 2.16 (95% CI: 0.88-5.30); unplanned pregnancy 1.36 (95% CI: 0.67-2.78); pregnancy recognition > 9 weeks after last menstrual period (vs. < 5 weeks) 3.64 (95% CI: 0.95-14.03); < 12 years of education (vs. ≥ 16 years) 5.24 (95% CI: 1.47-18.68); and obesity (vs. normal weight) 1.65 (95% CI: 0.58-4.63). Corresponding right-sided ORs were 1.28, 1.00, 1.63, 2.11, and 1.24.
CONCLUSIONS: Several maternal factors were modestly associated with microtia/anotia, with consistently larger estimates for left- than right-sided anomalies. These findings provide limited evidence that the etiology of microtia/anotia may differ by laterality and warrant confirmation in larger studies.