DREPAMASSE Study - Evaluation of a Newborn Screening for Sickle Cell Disease by Tandem Mass Spectrometry

DREPAMASSE Study - Evaluation of a Newborn Screening for Sickle Cell Disease by Tandem Mass Spectrometry

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).

Inclusion Criteria:

• Infants with SCD newborn screening conducted in the hospital center of Lyon

Exclusion Criteria:

• Insufficient quantity of sampling
• Parents' opposition to their newborn's participation in the study