Cell-free DNA

Artificial Intelligence in the Analysis of the Fetal Genome in Utero: A Critical Review of Current Paradigms, Clinical Utility and Future Horizons

S. Bittmann, E. Luchter & E. Moschüring-Alieva · Asian Journal of Medicine and Health · 2026

Prenatal genomic medicine now generates data at a scale that exceeds what unaided human interpretation can process within the time available to a continuing pregnancy. Cell-free DNA screening, chromosomal microarray, exome sequencing and, increasingly, genome sequencing produce m...

Open access Research Article 10.9734/ajmah/2026/v24i91430

Fragmentomics in Pediatric Genetics: A New Frontier for Non-invasive Diagnosis of Rare Congenital and Metabolic Disorders

Stefan Bittmann, Elisabeth Luchter & Elena Moschüring-Alieva · Asian Journal of Medicine and Health · 2026

Cell-free DNA (cfDNA) circulating in plasma is fragmented non-randomly, and the resulting patterns carry information about the cells and tissues from which the molecules were released. The analysis of these patterns, termed fragmentomics, includes fragment size distributions, pre...

Open access Research Article 10.9734/ajmah/2026/v24i91418