PROFICIENCY OF PRENATAL MOLECULAR DIAGNOSIS FOR Β-THALASSEMIA AMONG CARRIER COUPLES

Abstract

Background: Consanguineous marriage and inadequate genetic services are prevalent in Pakistan and one of the most prevalent genetic disorders of hemoglobin is β-Thalassemia which is a major public health concern in the Khyber Pakhtunkhwa (KP) area of Pakistan. Objectives: To assess the attitude, awareness and practice of prenatal diagnosis in beta thalassemia carrier couples of Chorionic Villus Sampling (CVS. Materials and Methods: The study was cross sectional study which included 600 married couples with β-thalassemia carrier status from Alkhidmat Thalassemia Centers (ATCs). Structured interview administered questionnaire on socio-demographic characteristics, disease history, knowledge, attitude, practices and barriers towards prenatal molecular diagnosis were used to collect the data. Results: This study proves that there is still a lack of awareness about prenatal molecular testing and CVS. The main barriers was lack of awareness, financial limitation, limited access to specialist diagnostic facilities, fear of invasive techniques, cultural beliefs, religious concerns and lack of genetic counseling. The higher educational level, higher knowledge scores, being urban residents and use of genetic counseling were significantly correlated with use of prenatal molecular diagnosis.

Conclusion There was significant difference between awareness and utilization of prenatal molecular diagnosis among β-thalassemia carrier couples in KPK. Therefore, the public awareness towards the disease, strengthening the genetic counseling service, increasing the availability of prenatal molecular test and making the screening service accessible to all programs in public health are crucial to reduce the occurrence of β-thalassemia major in the province.