Abstract
Objective: To determine the knowledge-practice gap in Prenatal Diagnosis (PND) for β Thalassemia in Pakistan.
Methodology: A cross sectional study among 750 parents of β Thalassemia children attending thalassemia treatment centers was carried out over a period of one year. A self-designed questionnaire was used to collect the data. Logistic Regression was used to find the independent predictors for Practice of Pre-natal diagnosis in thalassemia.
Results: Knowledge about PND for thalassemia was found among 88.6% parents while its practice was seen in 31.5%. Non agreement by spouse (42.86%) and religious beliefs (40.0%) were the two main reasons for not doing PND in future pregnancy. Educated Mothers, parents who thought pregnancy affected by thalassemia should be terminated had sufficient knowledge about the test cost; and family members who thought that PND is a useful test were more likely to practice PND (p <0.05).
Conclusion: Considering the difficult economic, cultural and literacy terrain of this country screening the high-risk families remains foremost. Despite having sufficient knowledge, practice still remains very low, thus calls for focused targeted interventions in order to improve the utilization of this service and to decrease the burden of thalassemia.

Key words: Thalassemia, Prenatal Diagnosis, Knowledge practice gap, Genetic Counselling, Single Gene Disorder.