Language

English

Publication Date

1-1-2023

Journal

Current Topics in Developmental Biology

DOI

10.1016/bs.ctdb.2022.10.007

PMID

36707212

PMCID

PMC12619917

PubMedCentral® Posted Date

11-17-2025

PubMedCentral® Full Text Version

Author MSS

Abstract

Neural tube defects (NTDs) consist of severe structural malformations of the brain and spinal cord and are the second most common structural birth defect in humans, accounting for approximately 2700 affected pregnancies every year in the United States. These numbers are highly significant, considering that birth defects remain a leading cause of infant mortality in the United States, affecting approximately 120,000 babies born annually. Survivors of these congenital malformations face long-term disability and lifelong challenges imposed by severe physical burdens compromising the afflicted individual's overall quality of life. Clearly, birth defects, and especially NTDs remain a global public health challenge, and the source of significant financial repercussions for healthcare systems worldwide. In order to better understand the role gene-environment interactions play in the etiology of NTDs, this chapter provides an overview of NTD phenotypes and their embryonic origins, discusses the genetic landscape of NTDs as it is currently understood, with a focus on experimental models that best illustrate how environmental factors modulate individual susceptibility to these birth defects. As folic acid interventions have proven to be effective in reducing the prevalence of NTDs, the chapter ends with a discussion on the impact that maternal dietary status has on NTD prevalence from a population perspective.

Keywords

Pregnancy, Female, Humans, Gene-Environment Interaction, Quality of Life, Neural Tube Defects, Folic Acid, Spinal Cord

Published Open-Access

yes

Download

Share

COinS
 
 

To view the content in your browser, please download Adobe Reader or, alternately,
you may Download the file to your hard drive.

NOTE: The latest versions of Adobe Reader do not support viewing PDF files within Firefox on Mac OS and if you are using a modern (Intel) Mac, there is no official plugin for viewing PDF files within the browser window.