DefinePK

Abstract

Background: Thalassemia is one of the most common inherited hemoglobinopathies, resulting from reduced or absent synthesis of alpha (α) or beta (β) globin chains. In countries like Pakistan, where consanguineous marriages are common, the risk of transmitting such genetic disorders increases. Prenatal genetic testing, particularly chorionic villus sampling (CVS), offers early diagnosis but may contribute to maternal psychological distress, which remains underexplored in local populations.
Objective: To assess the knowledge, attitudes, and psychological responses of pregnant Pakistani women undergoing CVS for thalassemia screening.
Methods: This cross-sectional study was conducted between April and June 2024 at the Thalassemia Department of Bahawalpur Victoria Hospital, Punjab, Pakistan. A total of 48 pregnant women, between 11–14 weeks of gestation and confirmed thalassemia carriers, were enrolled. Data were collected using a structured, interviewer-administered questionnaire covering demographic details, clinical history, knowledge of thalassemia, attitudes toward CVS, and psychological experiences. Descriptive statistics were used to summarize responses, and ordinal logistic regression was performed to explore associations between gestational age, emotional responses, and willingness to undergo testing.
Results: Among the 48 participants, 54.2% expressed willingness to undergo CVS again in future pregnancies. A majority (72.9%) reported favorable attitudes toward genetic testing. About 60.4% cited active partner support during the diagnostic process. Women with previously affected children showed greater acceptance of CVS. Sleep disturbances and anxiety were more pronounced in early gestation, while overall psychological strain remained minimal due to familial and clinical support systems.
Conclusion: Prenatal CVS testing was generally well-tolerated among thalassemia-carrier pregnant women. Support from partners, family, and healthcare providers played a pivotal role in alleviating maternal anxiety and enabling informed decision-making.