Screening of the umbilical cord blood for sickle cell disease: Utilization and implementation

Prenatal or antenatal diagnosis of sickle hemoglobinopathies is now feasible, hut it is still regarded as being in the experimental state of development and is available in only a limited number of medical centers because of the sophisticated medical and laboratory skills required for performance of the procedures. On the other hand, neonatal testing (involving the use of cord blood samples and hemoglobin electrophoresis) is currently feasible and has heen recommended by a number of authors for routine implementation, especially for hospitals serving populations that are at risk for sickle cell disease. However, despite the advantages of feasibility, modest cost, and medical benefits to patients, neonatal testing for sickle cell disease is not currently utilized hv many institutions that serve population groups at risk. This situation represents another health gap or hiatus between what science has made possible and what is actually available to the patient at the medical or institutional level. T his current state of affairs is also worthy of examination because many of the hospitals that do not test routinely for sickle cell disease in the newborn have long-standing routine procedures for the early detection of a long list of other genetic and metabolic disorders, many of which are relatively uncommon in the black population. This article seeks to delineate major factors that impact upon current underutilization of neonatal diagnosis for sickle cell disease and also presents remedial proposals and recommendations involving consumers, hospitals, and members of staffs. © Lippincott-Raven Publishers