Work

A multifactorial assessment of the maternal status and the risk of down syndrome

Year: 2025

Type: article

Abstract: Background A possible association of an impaired maternal micronutrient (especially folate/homocysteine/vitamin B12) metabolism to down syndrome (DS) risk and associated birth defects as suggested by several studies, together with the combined presence of two or more mutant alleles in the genome and the interaction of several factors of environmental, epigenetic and stochastic origin might affect disorder/associated birth defects risk. Aim In order to shed light on the potential role if any, of micronutrients including folate, vitamin B12, Homocysteine metabolism to the non-disjunction of chromosome 21/DS risk and associated birth defects, we in this review have paralleled epidemiological studies by invitro and invivo studies. Methods Literature survey was conducted using five databases: Pubmed, GoogleScholar, SCOPUS, Cochrane Library and Science Direct. Results Relevant studies conducted in different parts of the world have been included in the review article, which mostly focus on the role of micronutrients especially folic acid, vitamin B12 on the maternal health and its effect on the development of down syndrome and associated birth defects alongwith the combined interplay of maternal genetic and exposure status. Conclusion Although, some putative DS/associated birth defect risk factors have been identified from the studies conducted so far, but it is now time to design and conduct studies large enough to split trisomy 21 and associated birth defects into their component parts and to test for the contribution of folate/Homocysteine gene polymorphisms to each of them.

Source: Discover Applied Sciences

DOI: 10.1007/s42452-025-08040-8