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Newborn screening for sickling hemoglobinopathies. Houston, 1976 to 1980
Insights
Newborn screening for sickle cell disease (SCD) increases parental awareness, potentially improving infant outcomes. Early awareness may lead to more hospitalizations for complications, but could reduce mortality from infections like sepsis.
Area of Science:
- Pediatric Hematology
- Newborn Screening
- Genetic Blood Disorders
Background:
- Sickling hemoglobinopathies (SH) are a group of genetic blood disorders.
- Newborn screening aims to identify infants at risk for these conditions early.
- Parental awareness of potential complications is crucial for managing SH.
Purpose of the Study:
- To evaluate the impact of early parental notification of positive newborn screening results for sickling hemoglobinopathies.
- To assess the association between parental awareness and infant outcomes, including hospitalization and mortality.
Main Methods:
- Prospective follow-up of 52 infants with cord blood patterns indicative of SH.
- Retrospective comparison group of 39 children whose mothers were contacted years after birth.
- Average follow-up period of 30 months, tracking hospitalizations and mortality.
Main Results:
- Infants whose mothers were informed early of positive screening were hospitalized more readily for SH complications.
- Five (6%) of 88 infants with fetal and sickle hemoglobin (FS) or fetal, sickle, and C hemoglobins (FSC) died before 6 months.
- All five deaths occurred in infants whose parents were unaware; four possibly due to sepsis.
Conclusions:
- Newborn screening increases parental awareness of potential sickle cell disease complications.
- While not definitively proving reduced mortality, screening may improve prognosis by enhancing parental vigilance.
- Early detection and parental awareness are vital for managing sickle cell disease in infancy.
Abstract:
Fifty of 52 infants with cord blood hemoglobin electrophoresis patterns indicative of a possible sickling hemoglobinopathy (SH) were followed up prospectively. A retrospective group of 39 children whose mothers were contacted two to four years after the birth of a child with a positive newborn screening test formed a comparison group. During an average follow-up period of 30 months, children of mothers who were informed early of a positive cord blood test were hospitalized more readily for complications of an SH. During this same period, five (6%) of 88 infants with fetal and sickle hemoglobin (FS) or fetal, sickle, and C hemoglobins (FSC) in their cord blood died, all before 6 months of age. All five deaths occurred in infants whose parents were unaware of their child's disease; four of the five deaths may have been caused by sepsis. These results alone did not prove that screening significantly reduces mortality but did show that newborn screening increases parental awareness of complications and may, therefore, improve the prognosis in sickle cell disease in infancy.