Burden of congenital and hereditary anomalies and their epidemiological attributes in the pediatric and adult population of Peshawar valley, Pakistan

  • Syeda Farwa Naqvi Human Genetics Program, Department of Zoology, Quaid-i-Azam University, Islamabad, Pakistan
  • Umi Ameena Human Genetics Program, Department of Zoology, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad
  • Waheed Uddin Qazi Human Genetics Program, Department of Zoology, Quaid-i-Azam University, Islamabad, Pakistan
  • Salman Ahmad Department of Zoology, Kohat University of Science and Technology, Kohat, Pakistan
  • Anjum Iqbal Human Genetics Program, Department of Zoology, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad
  • Sajid Malik Human Genetics Program, Department of Zoology, Quaid-i-Azam University, 45320 Islamabad, Pakistan
Keywords: Birth defects, Neurological disorders, Limb defects, Genetic load, Consanguinity, Khyber Pakhtunkhwa

Abstract

Objectives: To elucidate the burden and clinico-epidemiological attributes of congenital and hereditary anomalies (CA) in the extended Peshawar Valley of Pakistan.

Method: This is a multicenter cross sectional study carried out in Buner, Charsadda, Mardan, Nowshera, Peshawar and Swabi districts, during 2017-2021. The pediatric and adult patients with CA were recruited from hospitals, public places and through door-to-door surveys. The anomalies were classified with the help of specialized clinicians. Descriptive statistics was employed.

Results: In this study, 1065 independent subjects with certain types of CA from independent households were included. The index males were 71%; the majority of subjects originated from rural areas (72%), and spoke Pashto (96%). The CA were categorized into 10 major and at least 104 minor categories. There was highest representation of neurological disorders, n=375 (proportion.: 0.352; 95% CI: 0.323-0.381), followed by limb defects (n=281; prop.: 0.264), sensorineural defects (n=128; prop.: 0.120), musculoskeletal defects (n=84; prop.: 0.079), visual impairments (n=67; prop.: 0.063), hemoglobinopathies (n=40; prop.: 0.038), ectodermal disorders (n=34; prop.: 0.032), cardiovascular anomalies (n=19; prop.: 0.018), and orofacial anomalies (n=19; prop). Among the neurological disorder, intellectual disabilities and cerebral palsy were highly prevalent. The majority of the cases had a sporadic presentation (68%), and isolated occurrence (72%), whereas parental consanguinity was witnessed in 58% of cases.

Conclusion: A wide range of CA were witnessed in this cohort with a preponderance of neurological disorders. The majority of the anomalies are of severe nature rendering a high morbidity burden in the population and requiring early detection, intervention and management.

doi: https://doi.org/10.12669/pjms.40.10.9234

How to cite this: Naqvi SF, Ameena U, Qazi W, Ahmad S, Iqbal A, Malik S. Burden of congenital and hereditary anomalies and their epidemiological attributes in the pediatric and adult population of Peshawar valley, Pakistan. Pak J Med Sci. 2024;40(10):2181-2189.  doi: https://doi.org/10.12669/pjms.40.10.9234

This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/3.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Author Biographies

Syeda Farwa Naqvi, Human Genetics Program, Department of Zoology, Quaid-i-Azam University, Islamabad, Pakistan

student and completed Ph.D. from Human Genetics Program, Department of Zoology, Quaid-i-Azam University, Islamabad, Pakistan

Umi Ameena, Human Genetics Program, Department of Zoology, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad

Completed M.Phil. from Human Genetics Program, Department of Zoology, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad

Waheed Uddin Qazi, Human Genetics Program, Department of Zoology, Quaid-i-Azam University, Islamabad, Pakistan

Ompleted M.Phil. from Human Genetics Program, Department of Zoology, Quaid-i-Azam University, Islamabad, Pakistan

Salman Ahmad, Department of Zoology, Kohat University of Science and Technology, Kohat, Pakistan

Completed M.Phil. from Human Genetics Program, Department of Zoology, Quaid-i-Azam University, Islamabad, Pakistan

Anjum Iqbal, Human Genetics Program, Department of Zoology, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad

Completed M.phil. from Human Genetics Program, Department of Zoology, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad

Sajid Malik, Human Genetics Program, Department of Zoology, Quaid-i-Azam University, 45320 Islamabad, Pakistan

Professor; Human Genetics Program, Department of Zoology, Quaid-i-Azam University, Islamabad, Pakistan

Published
2024-10-16
How to Cite
Syeda Farwa Naqvi, Umi Ameena, Waheed Uddin Qazi, Sulman Ahmad, Anjum Iqbal, & Sajid Malik. (2024). Burden of congenital and hereditary anomalies and their epidemiological attributes in the pediatric and adult population of Peshawar valley, Pakistan. Pakistan Journal of Medical Sciences, 40(10), 2181-2189. https://doi.org/10.12669/pjms.40.10.9234
Section
Original Articles