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

Abstract

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.
 doi: https://doi.org/10.12669/pjms.38.5.5486
 How to cite this:Bibi A, Naqvi SF, Syed A, Zainab S, Sohail K, Malik S. Burden of Congenital and Hereditary Anomalies in Hazara Population of Khyber Pakhtunkhwa, Pakistan. Pak J Med Sci. 2022;38(5):---------. doi: https://doi.org/10.12669/pjms.38.5.5486
 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.

Clinical and genetic attributes of congenital anomalies ascertained at a tertiary care hospital in Rawalpindi, Pakistan

“… 21 On the other hand, epidemiological studies carried out in the general populations of Pakistan, i.e., Sialkot, Hazara and Kurram Agency, showed high prevalence of limb defects. 10 , 22 , 23 Talipes and polydactyly were predominating limb defects in our study. Talipes, if not treated early can cause disability, while polydactyly is more like a cosmetic problem.…”

“…This finding is consistent with a recent epidemiological study conducted in Sialkot and Hazara populations, Pakistan. 10 , 22 Sporadic anomalies could arise mainly due to nongenetic factors like environmental conditions, maternal factors, infection and exposure to chemicals and drugs during pregnancy, and physical factors such as ionizing radiation and hyperthermia. 24 However, we cannot exclude the possibility that a sizable number of sporadic cases have a genetic cause and/or their familial nature could not be determined due to limitations in data collection.…”

Prevalence pattern, phenotypic manifestation, and descriptive genetics of congenital limb deficiencies in Pakistan

“…This study was a part of an ongoing effort to document the prevalence pattern of congenital and hereditary anomalies in Northern Pakistan. 19,20 Individuals with CLD were recruited from district headquarter hospitals, community centers, public places, and random door-to-door surveys. The field visits were arranged in rural and urban settlements of the target study districts.…”

“…16,17 Few epidemiological studies published from Pakistan have revealed that CLD constitute a sizable group among the limb anomalies in certain Pakistani populations. [18][19][20][21] The aim of the current study was to document the prevalence pattern, phenotypic manifestations, and descriptive genetic profile of CLD in a cohort of patients from the North Western region of Pakistan.…”