| David CHEILLAN, MD, PhD | |
| 04 72 12 96 88 ext +33 | |
| [email protected] |
| Dr Céline RENOUX, MD, PhD | |
| 04.27.85.65.94 ext +33 | |
| [email protected] |
3 France sites
< 27 Years
Observational
All
Other
Unknown
Three methods are actually used in newborn screening for sickle cell disease (SCD) in France:
isoelectric focusing, high performance liquid chromatography and capillary electrophoresis.
New technologies are currently under development such as Matrix Assisted Laser Desorption
Ionisation – Time of Flight (MALDI-TOF) and tandem mass spectrometry (MS/MS) using the SpOtOn
Diagnostics Reagent Kit available in United Kingdom only.
Zentech company (Liège, Belgium) is developing a package for SCD newborn screening using
MS/MS technology. The main objective of the present study will be to compare this new
technique with the technique actually used in the hospital center of Lille (sub-contractor
for SCD newborn screening of Lyon) and the haemoglobin analysis to test its accuracy
(sensitivity and specificity).
– Infants with SCD newborn screening conducted in the hospital center of Lyon
– Insufficient quantity of sampling
– Parents’ opposition to their newborn’s participation in the study