Assessing Awareness of Genetic Risks among Pregnant Mothers in Consanguineous Marriages: A Cross-Sectional Study in...

Consanguineous-marriages are highly prevalent among the Pakistani population, leading to an increased risk of genetic disorders in offspring. However, awareness of these genetic risks remains low, which delays diagnosis and contributes to poor health outcomes. This study's objective is to assess awareness of the genetic risks of consanguineous marriage and examine its effects on pregnancy outcomes.

A descriptive cross-sectional-study was conducted among 365 pregnant women attending antenatal clinics in Peshawar. Data were collected using a self-structured questionnaire. Sample size was calculated using an estimated prevalence of 36% from prior NCBI-indexed studies. Participants were selected through systematic random sampling, including women in consanguineous marriages who consented to participate. Data were analyzed using descriptive statistics and Chi-square test, with p ≤ 0.05 considered statistically significant.

Among 365 pregnant women, 41.0% had low awareness of genetic risks, 29.3% had no knowledge, and only 10.6% demonstrated good understanding of consanguineous marriage. Genetic screening was reported by 20.4%. Higher awareness was associated with older age, higher education, and prior screening. Family history of genetic disorders was significantly associated with age (p = 0.003), education (p = 0.010), duration of marriage (p = 0.003), awareness (p = 0.004), prior screening (p < 0.001), and consanguinity (p = 0.011). It was strongly linked to adverse pregnancy outcomes, including miscarriages, stillbirth, and developmental delay (p < 0.001).

Awareness of genetic risks in consanguineous marriages is low among pregnant women in this setting. Improving education and genetic counseling during antenatal care could help increase understanding and screening.