The Role of NIPT and the DYRK1A Gene in the Prenatal Diagnosis of Down Syndrome: Sleep Disorders, Melatonin, and Psychopharmacological Approaches

Abstract

Down syndrome (DS) is one of the most common genetic anomalies associated with trisomy 21, with a clinical spectrum ranging from congenital heart defects to cognitive impairment. In recent years, non-invasive prenatal testing (NIPT) has become an important tool in prenatal diagnosis due to its high sensitivity and specificity. However, the molecular basis of DS cannot be explained solely by chromosomal excess; overexpression of critical genes, particularly dual specificity tyrosine-phosphorylation-regulated kinase 1A (DYRK1A), amyloid precursor protein, superoxide dismutase 1, and regulator of calcineurin 1, plays a decisive role in neurodevelopmental disorders, immune dysregulation, and neurodegenerative processes. DYRK1A is associated not only with synaptic plasticity and cognitive functions but also with sleep disturbances through its effects on circadian rhythm and melatonin metabolism. In this context, melatonin therapy emerges as a promising pharmacological approach for improving both sleep and cognitive functions in DS. This review discusses the significance of NIPT in the prenatal diagnosis of DS and examines the molecular mechanisms linking the DYRK1A gene to sleep regulation, while also addressing potential psychopharmacological interventions.

Cite this article as: Altıok U, Erbaş O. The Role of NIPT and the DYRK1A Gene in the Prenatal Diagnosis of Down Syndrome: Sleep Disorders, Melatonin, and Psychopharmacological Approaches. JEB Med Sci 2025;6(2):65-70.