Prenatal diagnosis of sickle syndromes in India: dilemmas in counselling

Objectives The sickle gene is prevalent in the scheduled caste and tribal populations in India. The clinical presentation of sickle cell disease is extremely variable, and there are no neonatal screening programmes. This is the first report on prenatal diagnosis of sickle syndromes in 85 couples at risk (sickle cell anemia‐69; sickle thalassemia‐16) from different regions in India. Most of the couples were from a low socioeconomic group and their decisions were entirely dependent on the local counselling given. We have evaluated the acceptability of prenatal diagnosis and the dilemmas faced in counselling these families. Methods Chorion villus sampling was done in the first trimester and DNA analysis using reverse dot blot hybridization or restriction enzyme digestion with Dde1 in 65 cases. Cordocentesis was done in the second trimester and fetal blood analyses by automated HPLC in 20 cases who came late. Results 32.9% of couples came prospectively for diagnosis. 23.5% of fetuses were affected (sickle cell anemia‐18, sickle thalassemia‐2). The β‐thalassemia mutation in both cases was IVS 1–5(G‐ > C). All the couples with an unfavourable diagnosis opted for termination of pregnancy. Conclusion Sickle cell anemia has a relatively benign clinical course in some tribal groups in India. This raises a dilemma whether we are justified in advising prenatal diagnosis in all such cases. Copyright © 2005 John Wiley & Sons, Ltd.