We are doing more than 100 prenatal diagnostic tests every year in our laboratory with very gratifying results. We are routinely screening women attending the antenatal OPD for thalassemia carrier status if they report early in pregnancy. We prefer to take cases in first trimester but may accept samples upto 20 weeks. If her HbA 2 is 3.5. per cent, husband's carrier status is tested. If both partners are carriers we study their DNA for 5 common and 12 rare mutations.
Prenatal diagnosis is offered if mutations are identified.
These couples are directly screened for mutations in the b-thalessemia gene and offered prenatal diagnosis. 3 shows the approach we are following for carrier screening and prenatal diagnosis at our hospital. Flow chart for carrier detection and prenatal diagnosis of thalassemia. With the availability of a battery of cost effective preliminary screening tests and advent of DNA based diagnostic technologies, it will be possible, in the years to come, to reduce the burden of the disease on the society and in turn reduce its frequency in the population at large. We are thankful to the Indian Council of Medical Research for providing partial financial assistance.