Newborn screening for sickle cell disease: assessing program effectiveness

Abstract

Children affected with sickle cell disease (SCD) are at increased risk for morbidity and mortality, especially in the first three years of life. Newborn screening programs for SCD currently operate in over 40 states. To assess the effectiveness of newborn screening in providing early medical interventions and in reducing morbidity and mortality, a three-year follow-up study was conducted in 1998 in three states (California, Illinois, and New York), where universal newborn screening for SCD is offered.

1042 children born in 1992 and 1993 were diagnosed with SCD in California (n=265), Illinois (n=254), and New York (n=523). 61% (n=634) of children were diagnosed with SS disease, and 32% with SC disease (n=328). Of children born and diagnosed with SCD in 1992 and 1993, fourteen were deceased at the time of the study. A parental survey and provider survey were administered for each child to examine genetic factors, medical care and compliance, and sociodemographic factors. Provider surveys were completed for 72% (n=752) of the children and parental surveys were completed for 24% (n=252) of the children. Data from both surveys were merged; both parental and provider surveys were completed for 18% (n=184) of the children. Preliminary results indicate that 44% of respondents were informed of SCD services available for their child with 27% having utilized these services. Penicillin was taken regularly by 93% of respondents; 75% had received pneumonia vaccine or pneumovax, and 65% had received a full series of HIB/tetramune. Finally, 44% of SCD children reported compliance with prophylactic antibiotic regimen. Associations of these and other factors with various morbidity measures are currently being assessed in the entire population as well as by state.

This study utilized two methods for ascertaining follow-up and made repeated attempts to locate the children. Poor response rates for both provider and parental surveys demonstrate the need for on-going systematic collection of follow-up data on children with sickle cell disease to identify the extent and gaps of delivering proper medical services and interventions.