Barriers to Prenatal Genetic Testing in a High Consanguineous Population of Pakistan

AbstractPrenatal Genetic Testing (PNGT) is vital in controlling the burden of hereditary diseases, but not all women opt for the PNGT. This study aimed to assess the knowledge and attitudes towards PNGT among Pashtun women in Pakistan. Data were collected using a predesigned structural questionnaire. Various women's health centres and gynaecological clinics in the district of Mardan were visited. The study sample consisted of 341 pregnant women of different age groups of Pashtun ethnicity belonging to District Mardan. Mean values with standard deviations were calculated. Group differences were evaluated using the Mann–Whitney and Kruskal–Wallis tests. P ≤ 0.05 was considered significant. SPSS version 21 was used. Our findings revealed that a substantial portion of the study sample, 205/341 (about 60%), lacked information about PNGT. Education level and having a disabled child were significantly positively associated with awareness about PNGT (P<0.05). The absence of genetic counselling in the country's health system is a critical factor contributing to unawareness about PNGT. Implementing comprehensive education and awareness campaigns about PNGT, mainly targeting the at-risk group, is paramount in the given circumstancesKeywords: Attitude, Prenatal genetic testing, consanguinity, knowledge,