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The University of Florida sickle cell screening program for neonates: design and results
Insights
Newborn screening for sickle cell disease in a rural pilot program identified a higher-than-expected incidence of homozygous sickle disease. The program effectively managed infants and families, demonstrating cost-efficient care.
Area of Science:
- Medical Genetics
- Public Health
- Neonatal Screening
Background:
- Sickle cell disease is a significant health concern, particularly in certain populations.
- Effective newborn screening programs are crucial for early diagnosis and intervention.
- Previous estimates of sickle cell disease incidence may not fully capture real-world data in diverse populations.
Purpose of the Study:
- To evaluate the effectiveness of a pilot newborn screening program for sickle cell disease in a predominantly rural population.
- To determine the incidence of sickle cell disease and related hemoglobinopathies in screened neonates.
- To assess the challenges and strategies for patient retrieval and care coordination in a rural setting.
Main Methods:
- Screening of 2,058 black neonates using cord blood electrophoresis over 18 months.
- Retesting of infants with abnormal electrophoreses, with diagnostic confirmation for homozygous sickle disease and significant variants.
- Implementation of patient retrieval strategies including public health personnel and community physician involvement.
Main Results:
- An incidence of 0.5% for homozygous sickle disease was observed, exceeding predicted rates based on carrier frequency (8.3%).
- Fifty percent of infants with abnormal screening results were retested, and diagnoses were confirmed for those with significant variants.
- Challenges in patient retrieval due to the rural population were addressed through specific outreach measures.
Conclusions:
- Newborn screening programs can effectively identify infants with abnormal hemoglobin patterns in rural settings.
- Early identification allows for timely care and family education, improving health outcomes.
- The pilot program demonstrated a cost-efficient and effective model for sickle cell screening in underserved populations.
Abstract:
During the first 18 months of a pilot program for sickle cell screening at the University of Florida College of Medicine, Gainesville, 2,058 black neonates were screened. An incidence of homozygous sickle disease of 0.5 percent was greater than that expected or predicted by carrier frequency (8.3 percent). Fifty percent of all infants with abnormal cord blood electrophoreses were retested. All infants with actual homozygous disease or other clinically significant variants had confirmation of their diagnosis and were channeled for appropriate care. A change of phenotypic diagnosis based on a follow-up sample was made in eight cases. Errors were either interpretational or through contamination of cord blood samples by maternal blood at the time of delivery. Although location of infants for retesting after discharge was made more difficult by the largely rural composition of the target population, certain measures were taken to improve patient retrieval: use of public health personnel; enlistment of the aid of private physicians in the community; and inclusion of information regarding the screening program in the hospital discharge packets of black mothers. It is concluded that screening programs serving rural populations can adequately identify infants with abnormal hemoglobin patterns while educating and caring for families of these infants in a cost-efficient and effective manner.
