Role of Prenatal Diagnosis in Thalassaemia Prevention

  • Nadeem Ikram Department of Pathology, Rawalpindi Medical University, Rawalpindi
Keywords: Prenatal diagnosis, Chorionic Villi, ß- thalassaemia


To determine the role of chorionic villi examination in the prenatal diagnosis of ß- thalassaemia
Methods: In this descriptive study couples requesting prenatal diagnosis (PND) for ß- thalassaemia were registered for chorionic villous sampling after 10 weeks of gestation. After appropriate counseling placental sample was taken under local analgesics with suction cannula by trans-abdominal approach. The sampling system was then withdrawn under negative pressure .Placental villi were proceeded for further DNA analysis. Each PND was carried out by including the parents DNA, fetal DNA for the mutation, as well as the normal gene, appropriate negative and positive controls and reagent blanks.
Results: Six hundred and twenty females underwent chorionic villi sampling. Most patients (82.25%) , who requested for PND, already had an affected child. Consanguineous marriages were present in 83.20% ..The average reporting time for identification of the mutation was 7 to 10 days. Thalassaemia major was found in 25.48%. In the case of ß- thalassaemia major, majority (98.73) opted for termination of pregnancy. Spontaneous abortion, after the procedure was found in one case .Two cases turned out false negative. The commonest mutations were Fr8-9 (40.85% ) and IVS 1-5(25.70%) .
Conclusion: Pre natal diagnosis for ß- thalassaemia by chorionic villi examination is a safe and cost effective procedure.

How to Cite
Ikram N. Role of Prenatal Diagnosis in Thalassaemia Prevention. JRMC [Internet]. 30Jun.2017 [cited 9May2021];21(2):109-12. Available from: