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Burden of Congenital and Hereditary Anomalies in Hazara Population of Khyber Pakhtunkhwa, Pakistan

BACKGROUND AND OBJECTIVES: In Pakistan, there is high incidence of congenital and hereditary anomalies (CA) which are a leading cause of infant mortality and morbidity. In order to elucidate the burden and biodemographic correlates of CA, this study was aimed to report the prevalence-pattern and phe...

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Autores principales: Bibi, Anisa, Naqvi, Syeda Farwa, Syed, Amman, Zainab, Shah, Sohail, Khadija, Malik, Sajid
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Professional Medical Publications 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9247803/
https://www.ncbi.nlm.nih.gov/pubmed/35799759
http://dx.doi.org/10.12669/pjms.38.5.5486
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author Bibi, Anisa
Naqvi, Syeda Farwa
Syed, Amman
Zainab, Shah
Sohail, Khadija
Malik, Sajid
author_facet Bibi, Anisa
Naqvi, Syeda Farwa
Syed, Amman
Zainab, Shah
Sohail, Khadija
Malik, Sajid
author_sort Bibi, Anisa
collection PubMed
description BACKGROUND AND OBJECTIVES: In Pakistan, there is high incidence of congenital and hereditary anomalies (CA) which are a leading cause of infant mortality and morbidity. In order to elucidate the burden and biodemographic correlates of CA, this study was aimed to report the prevalence-pattern and phenotypic attributes of CA in the Hazara population of Khyber Pakhtunkhwa, Pakistan. METHODS: In a retrospective cross-sectional study, subjects/families with CA were recruited from district hospitals and community centers. Phenotypic and descriptive data were obtained; pedigrees were analyzed and parental and biodemographic attributes were recorded. RESULTS: A total of 1,189 independent subjects and/or families with CA were ascertained. The malformations were grouped into nine major and 95 minor categories. Neurological disorder had the highest representation (n=486; proportion=0.409; 95% CI=0.381-0.437), followed by limb defects (n=292; proportion=0.246, 95% CI=0.221-0.270), musculoskeletal defects, sensorineural/ear defects, blood disorders, eye/visual impairments, ectodermal anomalies, and congenital heart defects. In this cohort, sporadic cases were 65% and familial 35%. Parental consanguinity was significantly higher in isolated cases compared to syndromic, and in familial cases compared to sporadic. Further, speech apraxia and epilepsy were most common associations among the syndromic cases. The assessment of variables like demography, parental consanguinity, familial/sporadic nature, and pedigree structures showed conspicuous heterogeneity among the major and minor categories of CA. CONCLUSIONS: The trend of CA and high incidence of sporadic cases observed in this cohort indicate that nongenetic factors may play a significant role in their etiology which could be minimized by improving the healthcare system.
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spelling pubmed-92478032022-07-06 Burden of Congenital and Hereditary Anomalies in Hazara Population of Khyber Pakhtunkhwa, Pakistan Bibi, Anisa Naqvi, Syeda Farwa Syed, Amman Zainab, Shah Sohail, Khadija Malik, Sajid Pak J Med Sci Original Article BACKGROUND AND OBJECTIVES: In Pakistan, there is high incidence of congenital and hereditary anomalies (CA) which are a leading cause of infant mortality and morbidity. In order to elucidate the burden and biodemographic correlates of CA, this study was aimed to report the prevalence-pattern and phenotypic attributes of CA in the Hazara population of Khyber Pakhtunkhwa, Pakistan. METHODS: In a retrospective cross-sectional study, subjects/families with CA were recruited from district hospitals and community centers. Phenotypic and descriptive data were obtained; pedigrees were analyzed and parental and biodemographic attributes were recorded. RESULTS: A total of 1,189 independent subjects and/or families with CA were ascertained. The malformations were grouped into nine major and 95 minor categories. Neurological disorder had the highest representation (n=486; proportion=0.409; 95% CI=0.381-0.437), followed by limb defects (n=292; proportion=0.246, 95% CI=0.221-0.270), musculoskeletal defects, sensorineural/ear defects, blood disorders, eye/visual impairments, ectodermal anomalies, and congenital heart defects. In this cohort, sporadic cases were 65% and familial 35%. Parental consanguinity was significantly higher in isolated cases compared to syndromic, and in familial cases compared to sporadic. Further, speech apraxia and epilepsy were most common associations among the syndromic cases. The assessment of variables like demography, parental consanguinity, familial/sporadic nature, and pedigree structures showed conspicuous heterogeneity among the major and minor categories of CA. CONCLUSIONS: The trend of CA and high incidence of sporadic cases observed in this cohort indicate that nongenetic factors may play a significant role in their etiology which could be minimized by improving the healthcare system. Professional Medical Publications 2022 /pmc/articles/PMC9247803/ /pubmed/35799759 http://dx.doi.org/10.12669/pjms.38.5.5486 Text en Copyright: © Pakistan Journal of Medical Sciences https://creativecommons.org/licenses/by/3.0/This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/3.0 (https://creativecommons.org/licenses/by/3.0/) ), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Original Article
Bibi, Anisa
Naqvi, Syeda Farwa
Syed, Amman
Zainab, Shah
Sohail, Khadija
Malik, Sajid
Burden of Congenital and Hereditary Anomalies in Hazara Population of Khyber Pakhtunkhwa, Pakistan
title Burden of Congenital and Hereditary Anomalies in Hazara Population of Khyber Pakhtunkhwa, Pakistan
title_full Burden of Congenital and Hereditary Anomalies in Hazara Population of Khyber Pakhtunkhwa, Pakistan
title_fullStr Burden of Congenital and Hereditary Anomalies in Hazara Population of Khyber Pakhtunkhwa, Pakistan
title_full_unstemmed Burden of Congenital and Hereditary Anomalies in Hazara Population of Khyber Pakhtunkhwa, Pakistan
title_short Burden of Congenital and Hereditary Anomalies in Hazara Population of Khyber Pakhtunkhwa, Pakistan
title_sort burden of congenital and hereditary anomalies in hazara population of khyber pakhtunkhwa, pakistan
topic Original Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9247803/
https://www.ncbi.nlm.nih.gov/pubmed/35799759
http://dx.doi.org/10.12669/pjms.38.5.5486
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