Newborn screening for sickle cell disease using point-of-care testing in low-income setting

Ofelia A. Alvarez, Tally Hustace, Mimose Voltaire, Alejandro Mantero, Ulrick Liberus, Rony Saint Fleur

Research output: Contribution to journalArticle

2 Citations (Scopus)

Abstract

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.

Original languageEnglish (US)
Article numbere20184105
JournalPediatrics
Volume144
Issue number4
DOIs
StatePublished - Jan 1 2019
Externally publishedYes

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Point-of-Care Systems
Sickle Cell Anemia
Newborn Infant
Isoelectric Focusing
Sensitivity and Specificity
High Pressure Liquid Chromatography
Confidence Intervals
Haiti
Hemoglobinopathies
Point-of-Care Testing
Heel
Public Hospitals
Incidence
Penicillins
Observational Studies
Early Diagnosis
Vaccination
Pediatrics
Delivery of Health Care
Mortality

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Cite this

Alvarez, O. A., Hustace, T., Voltaire, M., Mantero, A., Liberus, U., & Fleur, R. S. (2019). Newborn screening for sickle cell disease using point-of-care testing in low-income setting. Pediatrics, 144(4), [e20184105]. https://doi.org/10.1542/peds.2018-4105

Newborn screening for sickle cell disease using point-of-care testing in low-income setting. / Alvarez, Ofelia A.; Hustace, Tally; Voltaire, Mimose; Mantero, Alejandro; Liberus, Ulrick; Fleur, Rony Saint.

In: Pediatrics, Vol. 144, No. 4, e20184105, 01.01.2019.

Research output: Contribution to journalArticle

Alvarez, OA, Hustace, T, Voltaire, M, Mantero, A, Liberus, U & Fleur, RS 2019, 'Newborn screening for sickle cell disease using point-of-care testing in low-income setting', Pediatrics, vol. 144, no. 4, e20184105. https://doi.org/10.1542/peds.2018-4105
Alvarez, Ofelia A. ; Hustace, Tally ; Voltaire, Mimose ; Mantero, Alejandro ; Liberus, Ulrick ; Fleur, Rony Saint. / Newborn screening for sickle cell disease using point-of-care testing in low-income setting. In: Pediatrics. 2019 ; Vol. 144, No. 4.
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AB - 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.

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