Using of PCR Technique for Prenatal Diagnosis of Sickle Cell Disease

Abstract

In present study, prenatal diagnostic facility for couples carrying sickle cell gene was established with the aim to prevent birth of affected fetus and to calculate the sensitivity of ARMS-PCR by comparing results with baby’s Hemoglobin pattern on follow up HPLC. Sickle cell disease (SCD) is common in Central India and causes significant morbidity and mortality. There is a scarcity of prenatal diagnostic facilities in close proximity to the SCD population. This is a pilot study in our region with the goal of establishing a prenatal diagnostic facility in Central India for couples carrying the sickle cell gene in order to help them make an informed decision about a foetus affected with SCD, as well as calculating the sensitivity of the polymerase chain reaction (PCR) technique in our setup with follow-up high performance liquid chromatography (HPLC) of the baby's blood sample. Follow-up HPLC was done to detect baby’s Hb pattern. Prenatal diagnosis of sickle cell anemia was offered in total 37 cases out of which one (2.7%) fetal sample was inadequate. Total 26 (70.27%) fetuses had AS Hb genotype, 3 (8.11%) had AA Hb genotype and 3 (8.11%) had SS Hb genotype while remaining 4 (10.81%) were given AA/AS Hb genotype. All couples with SS fetuses opted for MTP. Follow up HPLC was performed in 24 cases, out of which 18 (75%) were correlated and 6 (25%) were mismatched. In present study sensitivity of ARMS-PCR was 75%. ARMS-PCR is a simple technique to be established initially for providing rapid prenatal diagnosis to the couples with known sickle cell mutation. The sensitivity of ARMS-PCR can be increased by using suitable techniques to detect maternal cell DNA on society can thus be reduced by sensitising couples with the sickle cell gene through proper genetic counselling and providing the option of Medical Termination of Pregnancy for affected foetuses. More couples will benefit in the future if we raise awareness about the safety and efficacy of modern prenatal diagnostic techniques.