Cost-effectiveness of prenatal screening for thalassaemia in Hong Kong

Objectives To determine the cost effectiveness of a universal prenatal screening program for alpha- and beta-thalassaernia. Methods We retrospectively reviewed our program from 1998 to 2002, and calculated the direct and indirect costs of various components. Results 18936 women were screened at our prenatal clinic and 153 couples were subsequently referred to our Prenatal Diagnostic Centre for counselling and further investigations. In addition, there were 238 tertiary referrals and 157 self-referrals. After investigations, 84 fetuses were at risk of beta-thalassaemia major/beta-E thalassaemia, 19 of them were affected and 18 were aborted. The total expenditure on our program (HK$ 10.0 million) would be less than the postnatal service costs (HK$ 40.4 million) for 18beta-thalassaemia major fetuses if they were born. Of 361 women at risk of carrying a homozygous alpha(0)-thalassaemia fetus, 311 (86.2%) opted for the indirect approach (using serial ultrasound examinations to exclude Hb Bart's disease), and 76 (24.5%) subsequently underwent an invasive test for a definitive diagnosis. The sensitivity and false positive rate of this indirect approach was 100.0% and 2.9% respectively. Conclusion It is cost effective to run a universal prenatal screening program in an area where both beta-thalassaemia and alpha-thalassaemia are prevalent. The indirect approach can effectively avoid an invasive test in unaffected pregnancies. Copyright (C) 2004 John Wiley Sons, Ltd.