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Impediments to prenatal diagnosis for beta thalassaemia: experiences from Pakistan

Sajida Naseem1, Suhaib Ahmed, Farhaan Vahidy

  • 1Armed Forces Post Graduate Medical Institute, Department of Community Health Sciences, Rawalpindi, Pakistan. sajidanaseem@gmail.com

Prenatal Diagnosis
|November 13, 2008
PubMed

Insights

Prenatal diagnosis (PND) for beta thalassaemia is underutilized in Pakistan due to lack of awareness, cost, and access issues. Improving PND utilization requires addressing these barriers.

Area of Science:

  • Medical Genetics
  • Public Health
  • Reproductive Health

Background:

  • Beta thalassaemia is a significant genetic disorder in Pakistan.
  • Prenatal diagnosis (PND) offers a crucial option for families at risk.
  • Understanding parental practices regarding PND is vital for improving genetic screening programs.

Purpose of the Study:

  • To investigate parental practices concerning the utilization of prenatal diagnosis (PND) for beta thalassaemia in Pakistan.
  • To identify barriers hindering the uptake of PND services among parents of affected children.

Main Methods:

  • A cross-sectional study was conducted from April to September 2007.
  • Data was collected from 215 parents of children with beta thalassaemia using a structured questionnaire.
  • Participants were recruited via simple random sampling at two treatment centers in Rawalpindi and Islamabad.

Main Results:

  • Among 149 couples who had subsequent pregnancies, 60% did not opt for PND.
  • Key reasons for underutilization included lack of awareness (23%), high cost (23%), poor access (17%), and delays in seeking the test (16%).
  • Maternal education level showed a significant positive correlation with PND utilization (p < 0.016).

Conclusions:

  • Despite availability for over a decade, PND use for beta thalassaemia in Pakistan remains limited.
  • Addressing identified impediments such as awareness, cost, and accessibility is crucial to enhance PND utilization.
  • Targeted interventions are needed to improve access to and uptake of PND services for beta thalassaemia.
Abstract

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