ORIGINAL ARTICLE Prenatal diagnosis for thalassaemia in Egypt: what changed parents’ attitude? A. El-Beshlawy 1 *, A. El-Shekha 2 , M. Momtaz 2 , F. Said 3 , M. Hamdy 1 , O. Osman 2 , S. Meshaal 3 , T. Gafaar 3 and M. Petrou 4 1 Pediatric Hematology Department, Cairo University, Cairo, Egypt 2 Fetal Medicine Department, Cairo University, Cairo, Egypt 3 Clinical Pathology Department, Cairo University, Cairo, Egypt 4 Institute of Women’s Health and Centre for Health Informatics and Multiprofessional Education (CHIME) and University College London Hospitals NHS Foundation Trust Pathology Division, University College London, UK *Correspondence to: Amal El-Beshlawy. E-mail: amalelbeshlawy@yahoo.com ABSTRACT Objectives To present the current status of the prenatal diagnosis services and results from the largest thalassaemia center in Egypt treating 3000 patients. Traditionally, prenatal diagnosis has not been successful in reducing the births of affected children in Egypt, because the majority of women undergoing prenatal diagnosis continued to have affected pregnancies. Methods Seventy-one pregnant mothers at risk for b-thalassaemia underwent prenatal diagnosis by chorionic villus sampling (n = 57) or amniocentesis (n = 14) between 11 to 14 weeks of gestation. Molecular characterization of fetal DNA by reverse dot blot hybridization and polymerase chain reaction-amplification refractory mutation system techniques was conducted in all cases. Results Twenty-four women (33.8%) were found to have affected fetuses; 100% of these women opted to terminate the pregnancy. The change in attitude towards termination of pregnancy was related to in-depth counseling of the religious aspects towards prenatal diagnosis and termination of pregnancy. Forty-eight women (66.2%) with normal or carrier fetuses for b-thal requested human leukocyte antigen typing of the fetal material to determine if the fetus was a human leukocyte antigen match for their existing thalassaemic siblings. Conclusion This study demonstrates that prenatal diagnosis is feasible and acceptable in Egypt, a Muslim country, provided an in-depth discussion, which also addresses the religious considerations of prevention, is held with the couples. © 2012 John Wiley & Sons, Ltd. Funding sources: None Conflicts of interest: None declared INTRODUCTION b-Thalassaemia represents a major public health problem in Egypt. The carrier rate varies between 5.5% to ≥9%; it is estimated that there are 1000/1.5 million per year live births born with b-thalassaemia. 1 In spite of optimal treatment being available, only a few patients can afford it. Unfortunately, most patients suffer from complications of blood transfusions, mainly transfusion- transmitted viral infections and iron overload. Prevention by carrier detection and prenatal diagnosis is needed in populations with high incidence of the disease, such as Egypt. 2 Several prevention programs based on carrier detection and early prenatal diagnosis have been applied in at risk populations in the Mediterranean areas. 3–8 b-Thalassaemia is very heterogeneous at the molecular level, and more than 200 mutations have been reported so far. 9,10 Seven mutations account for more than 70% of b-thalassaemia alleles in Egypt. 2,11 The application of the molecular biology techniques, polymerase chain reaction- amplification refractory mutation system (PCR-ARMS) for the common gene mutations allows for rapid screening for b-thalassaemia alleles in Egyptian patients; DNA sequencing is used for uncharacterized alleles. 12 Educational programs for the patients and their parents have been conducted on a limited scale. 13 Although prenatal diagnosis of b-thalassaemia has been previously conducted in Egypt in at-risk pregnancies, the majority of the couples continued the affected pregnancy despite knowledge of the hazards of an affected child in Egypt. 14,15 In this study, we present the current status of prenatal diagnosis services and results for b-thalassaemia in the Children Hospital of Cairo University. Prenatal Diagnosis 2012, 32, 777–782 © 2012 John Wiley & Sons, Ltd. DOI: 10.1002/pd.3901