Drepanocytosis, Infant, Newborn, Disease, Sickle Cell Disease
Conditions
Brief summary
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).
Interventions
OTHERSCD newborn screening with the MS/MS method from Zentech
The analysis of the SCD newborn screening with the MS/MS method from Zentech will be realized after achievement and biological validation of the SCD newborn screening in the usual care pathway. The results will be compared with the method used at the Lille Academic Hospital (CHU Lille) (sub-contractor for SCD newborn screening of Lyon)
Sponsors
Hospices Civils de Lyon
Study design
Observational model
COHORT
Time perspective
RETROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
1 Days to 27 Days
Healthy volunteers
No
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
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Percent agreement between the two techniques | 6 months | Non-inferiority (difference \<1%) in terms of sensitivity and specificity between the results obtained with the MS/MS method and those obtained with the technique currently used at the Lille CHU (sub-contractor for SCD newborn screening of Lyon) |
Countries
France
Outcome results
None listed