Burden of congenital anomalies in Faisalabad, Pakistan: Consanguinity, ethnic disparities and public health implications
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View abstract on PubMed
Summary
This summary is machine-generated.Congenital anomalies are a major health issue in Pakistan, with neurological disorders being the most common. Public health interventions and genetic counseling are crucial for prevention and management.
Area Of Science
- Public Health
- Genetics
- Epidemiology
Background
- Congenital anomalies (CA) are a significant cause of infant mortality globally, especially in low-resource settings like Pakistan.
- Understanding the specific patterns of CA in regions like Faisalabad is vital for targeted interventions.
Purpose Of The Study
- To investigate the distribution, types, and biodemographic characteristics of congenital anomalies in Faisalabad Division, Punjab, Pakistan.
Main Methods
- A clinico-epidemiological study was conducted from September 2023 to April 2024.
- Recruitment involved multiple approaches including hospital visits, special education centers, foundations, and door-to-door surveys.
- Anomalies were classified using OMIM and ICD-10 databases, with descriptive statistics for analysis.
Main Results
- 867 individuals/families with CA were included, categorized into 12 major and 107 minor types.
- Neurological disorders were most prevalent (40%), followed by sensorineural/ear defects (13%) and neuromuscular disorders (9%).
- High parental consanguinity (62%) and a predominance of sporadic cases (66%) were observed, with variations across demographic attributes.
Conclusions
- The high prevalence of severe anomalies necessitates targeted public health interventions.
- Awareness programs on maternal exposures, parental consanguinity, prenatal screening, and genetic counseling are urgently needed.
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