Experience of Antenatal Thalassemia Screening and Prenatal Diagnosis from a Tertiary Care Teaching Hospital in Punjab

Prevention of birth of thalassemia major children by identification of risk couples and prenatal diagnosis has been recommended as a realistic and cost effective method for control of thalassemia. We present our experience of antenatal thalassemia screening and prenatal diagnosis (PND) in a tertiary care teaching hospital. All antenatal women presenting to the antenatal clinic over 6 years were counseled for beta thalassemia screening. If the lady was detected heterozygous for thalassemia/hemoglobinopathy, partner screening was advised. If the husband was also detected to be heterozygous, the risk couple was offered prenatal diagnosis by chorionic villus tissue DNA analysis. A total of 5392 antenatal women were counseled for beta thalassemia screening, with compliance in 4376 (81.1%) cases. Beta Thalassemia heterozygosity was detected in 147(3.4%) cases, borderline HbA2 in 75(1.7%) and other hemoglobin variants in 91(2.1%). Partner screening was advised in 313 (7.1%) affected antenatal women, with non-compliance in 33.8% cases. Of 27 risk couples identified, prenatal diagnosis was done in 19 couples, detecting 3 affected fetuses. In 8 couples, PND could not be done because of late gestation, financial constraints, lost follow up, failed CVS tissue aspiration and miscarriage prior to CVS tissue biopsy. Late presentation to the antenatal clinic, non-compliance to screening advice and financial constraints could be the factors impeding the thalassemia control program. This emphasizes on the need for community level awareness and inclusion of Thalassemia screening and prenatal diagnosis in the healthcare system.