Neonatal screening for sickle cell disease in France

Area of Science:

• Genetics
• Public Health
• Neonatal Care

Background:

• Sickle cell disease (SCD) screening in France began in 1985 in Guadeloupe and expanded to mainland France in 1996.
• Since 2000, national screening targets newborns identified as
• at risk
• based on ethnic origin, driven by population changes.
• The study addresses the increasing prevalence of SCD in France due to immigration.

Purpose of the Study:

• To evaluate the effectiveness of the current neonatal screening program for sickle cell disease (SCD) in France.
• To assess the rate of missed cases and the success of follow-up for newborns diagnosed with SCD.
• To consider the implications of SCD birth prevalence for future universal screening policies.

Main Methods:

• Neonatal screening utilizes a dry blood sample from a heel stick.
• Isoelectric focusing serves as the primary analysis method.
• High-performance liquid chromatography or acid agar electrophoresis confirms variant hemoglobins identified by isoelectric focusing.

Main Results:

• In 2007, 28.45% of all newborns in mainland France underwent SCD screening.
• From 1996 to the study period, 3,890 newborns were diagnosed with SCD and enrolled in follow-up care.
• The current screening strategy appears to infrequently miss affected infants.

Conclusions:

• The current at-risk based neonatal screening for SCD in France is largely successful in identifying affected infants.
• Follow-up care for newborns with SCD is effective, despite inherent sociological challenges within the at-risk population.
• The study highlights the ongoing discussion regarding universal newborn screening for SCD in France due to its birth prevalence.