Prevalence-pattern of congenital and hereditary anomalies in Balochistan Province of Pakistan.

Objectives: This study was aimed to report the prevalence-pattern of hereditary and congenital anomalies (CA) in general population of Balochistan province of Pakistan, and to elucidate the familial/sporadic presentations and parental consanguinity of CA.

Methods: In a multi-center cross-sectional study, patients with CA were ascertained from various district hospitals and public places throughout Balochistan from 2019 to 2023. Online Mendelian Inheritance in Man (OMIM) and International Classification of Diseases (ICD-10) databases were utilized for uniformity in classification. Descriptive statistics was employed.

Results: A cohort of 1185 independent patients diagnosed with CA was recruited and the index males were 71%. The CA were classified into nine major and 118 minor entities. In the major categories, neurological disorders had the highest prevalence (n=317; 27%), followed by limb defects (n=161; 14%), blood-heart defects (n=159; 13%), neuromuscular anomalies (n=156; 13%), sensorineural/ear defects (n=140; 12%), eye/visual impairments (n=90; 8%), musculoskeletal defects (n=83; 7%), ectodermal defects (n=31; 3%), and others (48; 4%). Sixty one percent CA were sporadic in nature and 39% were familial; and parental consanguinity was observed in 51% cases. Several rare CA were witnessed.

Conclusions: High preponderance of sporadic presentations in neuromuscular anomalies and musculoskeletal defects and low incidence of parental consanguinity in ectodermal defects and musculoskeletal defects may depict a significant etiological role of non-genetic/environmental factors such as prenatal exposures and maternal conditions. In this context, it is important to increase health education, enhance antenatal and perinatal care, and strengthen the health-care system in Balochistan to reduce the burden of CA.