RESUMO
ABSTRACT: One in 120 children are born with sickle cell disease (SCD) in Haiti. However, health care challenges include isolated newborn screening (NBS) activities and lack of transcranial Doppler (TCD) ultrasound to assess stroke risk. The implementation activities of the Comparative Study of Children in Haiti and Miami with Sickle Cell Disease involved both NBS and TCD ultrasound implementations at 4 Haitian clinical sites. We hypothesized that hospital-based newborn SCD screening and follow-up programs would be feasible at Haiti. A traditional NBS laboratory method with dried blood samples was performed at 3 Port-au-Prince sites, and the traditional method plus point-of-care (POC) testing was used at the 2 northern sites. The rate of clinical follow-up for newborns with SCD as the outcome for the NBS intervention was compared with that of the NBS method. The NBS programs identified SCD in 0.77% of 8224 newborns over a 24-month period. In the rural hospital assigned to the combination screening, 56% of newborns identified with POC testing returned for follow-up, compared with 0% when POC was not available (P = .044). Newborns who tested positive for SCD and children aged <6 years with SCD at the clinical sites were eligible for study follow-up. Accrual was successful: 165 participants (mean age, 42 months; 53% males; 93% hemoglobin SS) were recruited and received oral penicillin. TCD ultrasound screening was hampered by poor internet connections and trained staff leaving Haiti, with only 1 active site conducting screening. Despite challenges, the implementation of NBS and sickle cell programs in Haiti is feasible. We are in the process of understanding how to mitigate implementation limitations.
Assuntos
Anemia Falciforme , Triagem Neonatal , Masculino , Criança , Humanos , Recém-Nascido , Pré-Escolar , Feminino , Haiti , Triagem Neonatal/métodos , Seguimentos , Anemia Falciforme/diagnóstico , HospitaisRESUMO
BACKGROUND: Newborn screening provides early diagnosis for children with sickle cell disease (SCD), reducing disease-related mortality. We hypothesized that rapid point-of-care (POC) Sickle SCAN would be reliable in Haiti and would assist newborn screening. METHODS: Dried blood specimens were obtained from infant heel sticks and analyzed by isoelectric focusing (IEF) at a public hospital in Cap-Haïtien during a 1-year period. A total of 360 Guthrie cards were also analyzed for quality assurance by high-performance liquid chromatography at the Florida Newborn Screening Laboratory. In addition, two-thirds of the infants were also screened by the POC to assess differences with the IEF. The hemoglobinopathy incidence and the specificity and sensitivity of the POC scan were assessed. RESULTS: Overall, 1.48% of the children screened positive for SCD. The specificity and the sensitivity of POC Sickle SCAN were 0.97 (confidence interval 0.95-0.99) and 0.90 (confidence interval 0.55-1.00), respectively, relative to high-performance liquid chromatography gold standard. The confirmatory testing rate was 75% before POC and improved to 87% after POC was added for dual screening. Confirmatory testing revealed that 0.83% of children screened had SCD. Children who screened positive for SCD by POC started penicillin earlier, had their first pediatric follow-up a median of 38 days earlier, and received antipneumococcal vaccination on time when compared with those who screened positive for SCD by IEF alone. CONCLUSIONS: The observational study revealed a high incidence of SCD among Haitian newborns. Sickle SCAN had excellent specificity and sensitivity to detect SCD during newborn screening and shortened health care access for children positive for SCD.