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Neonatal screening for sickle cell disease in France: evaluation of the selective process
Isabelle Thuret1, Jacques Sarles, Françoise Merono
1Service d'Hématologie Pédiatrique, Hôpital d'enfants de la Timone, Marseille, France.
Insights
Selective neonatal screening for sickle cell disease in France is feasible. Careful attention to the selection process is crucial for effective screening of at-risk newborns.
Area of Science:
- Medical Genetics
- Public Health
- Neonatal Care
Background:
- The French national program screens newborns at risk for sickle cell disease based on parental geographical origins.
- Selection relies on nurses interviewing mothers about family origins, with testing rates varying significantly by region (2-50%).
Purpose of the Study:
- To evaluate the effectiveness of the selection process in the French national neonatal screening program for sickle cell disease.
Main Methods:
- A regional prospective study screened selected and non-selected newborns in a limited area (3% of national births).
- A retrospective national survey identified false-negative cases.
Main Results:
- The selected population showed twice the carrier frequency (1.23%) compared to the non-selected (0.62%).
- Over six years, 28 affected children were missed, resulting in a 2.1% false-negative rate.
- Most false negatives stemmed from data collection failures, not misdiagnosis of risk.
Conclusions:
- Selective neonatal screening for sickle cell disease is achievable.
- Meticulous attention to the selection phase is essential for program success.
Aims:
The French national programme for neonatal screening of sickle cell disease is applied to newborns 'at risk', defined as those born to parents originating from sub-Saharan Africa, the Mediterranean area, the Arabic peninsula, the French overseas islands and the Indian subcontinent. The selection is performed by the nurse in charge of blood sampling by interviewing the mother about the family's geographical origins. The mean rate of testing in France is 25%, ranging from 2% to 50% depending on the region. This study aimed to evaluate the effectiveness of selection during this screening programme.
Methods:
False-negative cases were identified using two different approaches: first, a regional prospective study aimed at screening all newborns, selected and non-selected, in a restricted area, representing 3% of national births; second, a retrospective national survey to identify false-negative cases.
Results:
The regional study indicated that selective screening leads to a carrier frequency that is twice as high in the selected population as compared with the non-selected population (1.23% versus 0.62%). The local and national surveys revealed that, during a 6-year period, 28 affected children failed to be selected, leading to a false-negative rate of 2.1%. In contrast to what was expected, most of the cases were due to the failing of the data collection process and not to the misdiagnosis of the risk.
Conclusions:
These results show that selective neonatal screening for sickle cell disease is feasible if very careful attention is paid to the selective step.
