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

ABSTRACT:

Objective

Congenital anomalies (CA) or birth defects cause substantial healthcare burden in developing countries. There are few studies from Pakistan on the prevalence-pattern of CA. The purpose of this study was to determine the prevalence-pattern and genetic attributes of CA at a tertiary care facility in Rawalpindi, Pakistan.

Methods

In a cross-sectional study design, patients with CA were ascertained from Pediatric and Neonatal Section of Holy Family Hospital, Rawalpindi from March-2022 to June-2022. International Classification of Diseases (ICD-10) and Online Mendelian Inheritance in Man (OMIM) databases were utilized for uniformity in classification. The pattern of CA as well as familial/sporadic nature, syndromic/isolated presentations, and prenatal consanguinity were

SUBMITTER: Shaheen F 

PROVIDER: S-EPMC10626060 | biostudies-literature | 2023 Nov-Dec

REPOSITORIES: biostudies-literature