The Newborn Screening Paradox: Sensitivity vs. Overdiagnosis in VLCAD Deficiency.

ABSTRACT:

Objective

To improve the efficacy of newborn screening (NBS) for very long chain acyl-CoA dehydrogenase deficiency (VLCADD).

Patients and methods

Data on all dried blood spots collected by the Dutch NBS from October 2007 to 2010 (742.728) were included. Based solely on the C14:1 levels (cutoff ≥0.8 μmol/L), six newborns with VLCADD had been identified through NBS during this period. The ratio of C14:1 over C2 was calculated. DNA of all blood spots with a C14:1/C2 ratio of ≥0.020 was isolated and sequenced. Children homozygous or compound heterozygous for mutations in the ACADVL gene were traced back and invited for detailed clinical, biochemical, and genetic evaluation.

Results

Retrospective analysis based on the C14:1/C2 ratio with a cutoff of ≥0.020 identified an ad

SUBMITTER: Diekman E 

PROVIDER: S-EPMC4864775 | biostudies-literature | 2016

REPOSITORIES: biostudies-literature