Nawaz Aqeela, Siddiqui Ayesha, Mughal Mahnoor, Naz Saima, Wajid Muhammad, Malik Sajid
Aqeela Nawaz Department of Zoology, Faculty of Life Sciences, University of Okara, Pakistan.
Ayesha Siddiqui Human Genetics Program, Department of Zoology, Quaid-i-Azam University, Islamabad, Pakistan.
Pak J Med Sci. 2025 Mar;41(3):643-651. doi: 10.12669/pjms.41.3.9574.
To investigate the epidemiology, spectrum and ethno-demographic attributes of congenital anomalies (CA) in Okara district of Pakistan.
In this cross-sectional study, individuals affected by CA were identified through door-to-door visits, surveys of public places, and district hospitals during the period 2015 to 2022 in Okara district of Punjab, Pakistan. Descriptive statistics were employed, and CA were classified using the International Classification of Diseases (ICD-10) and Online Mendelian Inheritance in Man (OMIM) databases.
A total of 709 individuals/families with certain types of CA were ascertained. These anomalies were categorized into eight major and 95 minor entities. Limb defects predominated among the major groups (21%), followed by neurological disorders (16%), neuromuscular disorders (15%), sensorineural/ear defects (15%), ectodermal defects (9%), musculoskeletal defects (7%), and others (4%). Parental consanguinity was observed in 67% of the cases and 55% anomalies had familial occurrence. There were statistically significant differences among the major categories with respect to rate of parental consanguinity and familial/sporadic nature. Marked disparities were also observed in the distribution of CA with respect to ethnic groups, economic quartiles and age categories of index cases.
Neurological and neuromuscular defects which accounted for 31% of the sample, were of severe nature and cause of disability, whereas limb defects were mainly of minor nature. There is wide variation in the prevalence of CA across the ethno-demographic variables. A multifaceted strategy that explicitly includes marginalized and minority populations in health services and addresses environmental, genetic, and maternal health factors is necessary to prevent CA.
调查巴基斯坦奥卡拉地区先天性异常（CA）的流行病学、种类及民族人口学特征。
在这项横断面研究中，2015年至2022年期间，通过挨家挨户走访、公共场所调查以及地区医院，在巴基斯坦旁遮普省奥卡拉地区确定了受CA影响的个体。采用描述性统计方法，并使用国际疾病分类（ICD - 10）和《人类孟德尔遗传在线》（OMIM）数据库对CA进行分类。
共确定了709例患有特定类型CA的个体/家庭。这些异常被分为8种主要类型和95种次要类型。在主要类型中，肢体缺陷占主导（21%），其次是神经疾病（16%）、神经肌肉疾病（15%）、感觉神经性/耳部缺陷（15%）、外胚层缺陷（9%）、肌肉骨骼缺陷（7%）以及其他（4%）。67%的病例中观察到父母近亲结婚，55%的异常具有家族性发病。在主要类别之间，父母近亲结婚率和家族性/散发性方面存在统计学显著差异。在CA的分布方面，在种族群体、经济四分位数和索引病例的年龄类别上也观察到明显差异。
占样本31%的神经和神经肌肉缺陷性质严重，是致残原因，而肢体缺陷主要性质较轻。CA的患病率在民族人口学变量中差异很大。需要一种多方面的策略，明确将边缘化和少数群体纳入卫生服务，并解决环境、遗传和孕产妇健康因素，以预防CA。
