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non-invasive prenatal diagnosis

Papers (2)

Non-invasive Ultra-early in Utero Detection and Precision CRISPR-mediated Correction of Monogenic Embryonic Mutations: A Critical Appraisal of a Hypothetical Therapeutic Framework

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

Advances in circulating placental DNA analysis and in programmable genome editing have developed largely in parallel, yet their conjunction has generated an increasingly discussed proposition: that a pathogenic single-gene variant might be identified non-invasively at the earlies...

Open access Research Article 10.9734/ajmah/2026/v24i91427

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