Santoro Michele, Mezzasalma Lorena, Coi Alessio, Pierini Anna
Unit of Epidemiology of Rare Diseases and Congenital Anomalies, Institute of Clinical Physiology, National Research Council, 56124 Pisa, Italy.
Foundation Gabriele Monasterio CNR-Regione Toscana, 56124 Pisa, Italy.
Children (Basel). 2024 Jul 4;11(7):819. doi: 10.3390/children11070819.
BACKGROUND/OBJECTIVES: Orofacial clefts (OFCs) are some of the most common congenital anomalies worldwide. The aim of this case-control study was to evaluate the association of OFCs with selected maternal characteristics.
Data on isolated non-syndromic cases of OFCs were extracted from the population-based registry of congenital anomalies of Tuscany. A sample of live-born infants without any congenital anomaly was used as the control group. We investigated the association with sex and some maternal characteristics: age, body mass index, smoking, and education. Adjusted odds ratios (OR) were calculated using a logistic regression model. Analyses were performed for the total OFCs and separately for cleft lip (CL) and cleft palate (CP).
Data on 219 cases and 37,988 controls were analyzed. A higher proportion of males (57.9%) was observed, particularly for CL. A decreasing trend among the maternal age classes was observed (OR:0.81 (95%CI 0.70-0.94)). Underweight mothers had a higher prevalence of OFCs, in particular for CL (OR:1.88 (95%CI 1.08-3.26)).
We found an association of OFCs with lower maternal age. The association with maternal age remains controversial and further epidemiological evidence is needed through multicenter studies. We observed that CL was more common in underweight mothers, suggesting actions of primary prevention.
背景/目的:口面部裂隙(OFCs)是全球最常见的先天性畸形之一。本病例对照研究的目的是评估OFCs与选定的母亲特征之间的关联。
从托斯卡纳基于人群的先天性畸形登记处提取孤立的非综合征性OFCs病例数据。以无任何先天性畸形的活产婴儿样本作为对照组。我们调查了与性别和一些母亲特征的关联:年龄、体重指数、吸烟和教育程度。使用逻辑回归模型计算调整后的优势比(OR)。对总OFCs以及唇裂(CL)和腭裂(CP)分别进行分析。
分析了219例病例和37988例对照的数据。观察到男性比例较高(57.9%),尤其是CL。在母亲年龄组中观察到下降趋势(OR:0.81(95%CI 0.70 - 0.94))。体重过轻的母亲OFCs患病率较高,尤其是CL(OR:1.88(95%CI 1.08 - 3.26))。
我们发现OFCs与母亲年龄较低有关。与母亲年龄的关联仍存在争议,需要通过多中心研究获得进一步的流行病学证据。我们观察到CL在体重过轻的母亲中更常见,这表明需要采取一级预防措施。