Sudden Death of a Four-Day-Old Newborn Due to Mitochondrial Trifunctional Protein/Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiencies and a Systematic Literature Review of Early Deaths of Neonates with Fatty Acid Oxidation Disorders

Whole-genome sequencing of dried blood spots from 1,000 newborns identified 16 infants with high-chance results, most missed by standard screening. The 13-day turnaround and high parental acceptability show a feasible, scalable model for decentralised genomic screening.

Feasibility, acceptability and clinical outcomes of the BabyScreen+ genomic newborn screening study — Lunke et al., Nature medicine · source ↗

• blood
• dried
• dbs
• acceptability
• pediatric
• genotyping

Self-collection of dried blood spots in the home was feasible for healthy youth, with 82% consenting to provide a sample in the lab and 75% of those willing to self-collect at home, and DNA extraction quality was high across demographic groups.

At-home dried blood spot (DBS) collection to increase population heterogeneity representation in pediatric research: An ECHO study — Green et al., Frontiers in pediatrics · source ↗

• acceptability
• blood
• dbs
• self-collection
• dried
• pediatric
• genotyping

A targeted NGS panel using dried blood spots achieved 100% concordance with Sanger sequencing in detecting pathogenic variants across 32 samples, with average coverage of 596X. This validates microsampling for decentralised newborn screening programmes, enabling accurate genetic diagnosis from minimally invasive specimens.

A targeted gene capture next-generation sequencing panel for genetic screening of newborns — Peng et al., JPMA. The Journal of the Pakistan Medical Association (paywalled) · source ↗

• blood
• dried
• dbs
• validation
• pediatric
• genotyping

DNA from dried blood spots extracted with a home-made buffer yielded more DNA than a commercial kit at similar quality, and duplex allele-specific qPCR accurately identified all HLA-DQ2 and DQ8 alleles in 558 children, reducing genotyping costs by 60 per cent for population-wide celiac disease and type 1 diabetes screening.

A population-wide applicable HLA-DQ2 and DQ8 genotyping using DNA from dried blood spots and duplex allele-specific qPCR amplification — Aguayo-Patrón et al., Scandinavian journal of clinical and laboratory investigation (paywalled) · source ↗

• blood
• economics
• dbs
• dried
• pediatric
• validation
• genotyping

Frequent dried blood spot sampling detected early changes in beta-cell function more effectively than mixed-meal tolerance tests or urine ratios, supporting its potential as a decentralised monitoring tool for clinical trials.

Serial Dried Blood Spot C-Peptide Sampling, but Not Urine C-Peptide-to-Creatinine Ratio, Detects Early Preservation of β-Cell Function in New-Onset Type 1 Diabetes: Experience From the USTEKID Trial — Dunseath et al., Diabetes care (paywalled) · source ↗

• dct
• blood
• dbs
• dried
• pediatric
• urine
• biomarkers