Impediments to prenatal diagnosis for beta thalassaemia: experiences from Pakistan

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To investigate the practices of parents of beta thalassaemia children towards utilization of prenatal diagnosis (PND) in Pakistan.


A cross-sectional study was done between April and September 2007 at two thalassaemia treatment centers in Rawalpindi and Islamabad. Simple random sampling was employed to interview 215 parents of thalassaemic children. Parents of thalassaemic children who were not planning to have any more children were excluded from the study. A structured questionnaire with preassigned values was developed for collection of data.


Out of the 215 respondents, 149 (69%) families had a pregnancy following the birth of the registered thalassaemic child. Among 149 couples, 90 (60%) did not request PND. The main reasons for underutilization of PND included lack of awareness (23%), high cost (23%), poor access (17%), delay in seeking (16%) and advice against the test (12%). A significant improvement in the use of PND was observed with increasing mother's education (p < 0.016).


PND for thalassaemia is available in Pakistan for over a decade but its use remains limited. There is a need to increase its utilization by addressing various impediments noted in this study.

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