Neonatal screening for sickle cell disease in France: evaluation of the selective process

  title={Neonatal screening for sickle cell disease in France: evaluation of the selective process},
  author={Isabelle Thuret and Jacques Sarles and Françoise Merono and E. Suzineau and J Collomb and Danielle Lena‐Russo and Nicolas L{\'e}vy and Josiane Bardakdjian and C Badens},
  journal={Journal of Clinical Pathology},
  pages={548 - 551}
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… 
A Multi-centre Survey of Acceptability of Newborn Screening for Sickle Cell Disease in Nigeria
This study suggests that there is a good acceptability of NBS across Nigeria, and the main barriers to its use are likely to be financial and practical, rather than social or cultural.
Newborn Screening for Sickle Cell Disease: Jamaican Experience.
The methods currently detailed provide an effective and economic model of newborn screening which may be of value elsewhere and is known to reduce its morbidity and mortality.
Fifteen years of newborn sickle cell disease screening in Madrid, Spain: an emerging disease in a European country
The Madrid SCD NBS program achieved high rates of sensitivity and specificity and good quality of care assistance, and a multidisciplinary team that includes social workers and a psychologist are needed to ensure the success of early intervention.
Newborn Screening for Sickle Cell Disease in Europe
The history of newborn screening (NBS) for sickle cell disease (SCD) in Europe goes back almost 40 years. However, most European countries have not established it to date. The European screening map
Screening for sickle cell disease in newborns: a systematic review
A Jamaican retrospective study evaluating newborn screening for SCD followed by preventive measures (prevention of infections and education of parents) and data from this single retrospective study suggest a benefit of newborn Screening forSCD (followed by preventive Measures) versus no newborn screeningFor SCD (weak certainty of conclusions).
Newborn screening for sickle cell disease in Europe: recommendations from a Pan‐European Consensus Conference
This paper aims to summarise the discussions and present consensus recommendations which can be used to support the development of NBS programmes in European countries where they do not yet exist, and to review existing programmes.
Universal screening for hemoglobinopathies in today's multi-ethnic societies: How and when
Adding hemoglobinopathies to the routine rhesus screening using a simple separation of the Hb fractions on dedicated devices will virtually identify all female carriers of all common traits responsible for the severe conditions mainly sickle cell disease and thalassemia major in time for partner analysis, counseling and primary prevention.
Genetic Epidemiology and Preventive Healthcare in Multiethnic Societies: The Hemoglobinopathies
Identification of carriers using simple and inexpensive methods should be included in the Rhesus and infectious diseases screening which is offered early in pregnancy in most developed countries to allow identification of couples at risk in time for an informed choice and for prenatal diagnosis if required before the first affected child is born.
Sickle Cell Disease, a Review
Progress in understanding the molecular pathways controlling mammalian erythropoiesis and globin switching, as well as advances in genome engineering, particularly the gene-editing techniques, have opened a venue for genetic-based treatment of the disease.
Newborn screening for haemoglobinopathies by high performance liquid chromatography (HPLC): diagnostic utility of different approaches in resource-poor settings
The β-thal short kit was more versatile than the sickle cell short kit for screening for haemoglobinopathies in newborns in India, and the diagnosis of α thalassaemia was difficult to diagnose.


Newborn screening for sickle cell disease: effect on mortality.
Ten years of experience in newborn screening for sickle cell disease have been summarized and hemoglobinopathies are the most prevalent congenital disease.
Is universal neonatal hemoglobinopathy screening cost-effective?
  • A. Bergman
  • Medicine
    Archives of pediatrics & adolescent medicine
  • 1995
The article by Sprinkle et al 1 published in the May issue of theArchivesis an example of how the "science" of economics can be employed to justify most any conclusion. Costs and benefits depend on
Newborn screening for hemoglobinopathies in Colorado. The first 10 years.
The results of the experience confirm the value of newborn screening for hemoglobinopathies but suggest that a more sensitive test would improve the program.
Costing model for neonatal screening and diagnosis of haemoglobinopathies
IEF and HPLC are very similar in terms of average cost per test, and at 16 traits/1000 and 0.5 SCD/1000 there was no significant identification cost difference between universal and targeted programmes.
Neonatal screening for congenital hypothyroidism based on thyroxine, thyrotropin, and thyroxine-binding globulin measurement: potentials and pitfalls.
The Dutch incidence figures for CH belong to the highest worldwide, suggesting that the T(4)-TSH-TBG screening program is an efficient method to detect CH of variable etiology and severity, although a small percentage of children with CH escaped detection via this screening approach.