title: A single centre study on birth of children with transfusion-dependent thalassaemia in Malaysia and reasons for ineffective prevention.
abstract: OBJECTIVE
  We aimed to identify factors contributing to ineffective prevention of thalassaemia in Malaysia by studying events leading to the births of children with transfusion-dependent thalassaemia (TDT) including their parents' reproductive choices.
  
  
  METHODS
  Thirty children with TDT born in the year 2005 to 2012 were included. Their parents underwent a semi-structured, face-to-face interview in 2012 and were followed up until 2014 to evaluate the actual decisions made during subsequent pregnancy.
  
  
  RESULTS
  In 70% of the cases (21/30), neither parent was aware of their carrier status until their child's diagnosis. Six of the remaining nine cases did not receive accurate information or support for prenatal diagnosis and the termination option. Of the 38 parents interviewed, 20 (52.6%) indicated that they would terminate an affected pregnancy. Notably, 52.2% of Muslims supported termination. Prenatal diagnosis was made in two of the five subsequent pregnancies, with thalassaemia traits diagnosed in both fetuses.
  
  
  CONCLUSIONS
  The current poor uptake of voluntary thalassaemia screening in Malaysia and inadequate access to counselling and prenatal diagnostic services contributed to ineffective prevention. A considerable number of Malaysian Muslims may accept the termination option if given access to comprehensive genetic counselling services.
authors.affiliation: Department of Paediatrics, School of Medicine and Health Sciences, Monash University, Malaysia.
authors.forename: C F
authors.initials: CF
authors.lastname: Ngim
authors.forename: H
authors.initials: H
authors.lastname: Ibrahim
authors.forename: N M
authors.initials: NM
authors.lastname: Lai
authors.forename: C S
authors.initials: CS
authors.lastname: Ng
mesh_terms: D000328:Adult; D001364:Awareness; D002648:Child; D002675:Child, Preschool; D005260:Female; D005817:Genetic Counseling / Q000592:standards; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008296:Malaysia / Q000453:epidemiology; D017713:Platelet Transfusion; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000706:statistics & numerical data; D011322:Primary Prevention / Q000592:standards*; D012042:Registries / Q000706:statistics & numerical data; D011795:Surveys and Questionnaires; D013789:Thalassemia / Q000175:diagnosis* / Q000453:epidemiology* / Q000235:genetics / Q000628:therapy*