Evidence map›Paper›PMID 40666233›Full record

ReviewPediatric discovery2025

Spina bifida as a multifactorial birth defect: Risk factors and genetic underpinnings.

Ethan S Wong, Daniel A Hu, Lily Zhang, Rachel Qi, Cindy Xu, Ou Mei, Guowei Shen, Wulin You, Changqi Luo, Tong-Chuan He and 4 more

Abstract readReview
In one paragraph

Review in Pediatric discovery, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

3 citing papers in PubMed.

  1. Review
  2. Article
  3. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

14 authors.

Ethan S WongMolecular Oncology Laboratory Department of Orthopaedic Surgery and Rehabilitation Medicine The University of Chicago Medical Center Chicago IL USA.ORCID https://orcid.org/0000-0002-9731-8407
Daniel A HuMolecular Oncology Laboratory Department of Orthopaedic Surgery and Rehabilitation Medicine The University of Chicago Medical Center Chicago IL USA.ORCID https://orcid.org/0009-0000-6312-0550
Lily ZhangMolecular Oncology Laboratory Department of Orthopaedic Surgery and Rehabilitation Medicine The University of Chicago Medical Center Chicago IL USA.ORCID https://orcid.org/0009-0007-1741-4073
Rachel QiMolecular Oncology Laboratory Department of Orthopaedic Surgery and Rehabilitation Medicine The University of Chicago Medical Center Chicago IL USA.ORCID https://orcid.org/0009-0008-4379-8215
Cindy XuMolecular Oncology Laboratory Department of Orthopaedic Surgery and Rehabilitation Medicine The University of Chicago Medical Center Chicago IL USA.ORCID https://orcid.org/0009-0005-0927-3261
Ou MeiMolecular Oncology Laboratory Department of Orthopaedic Surgery and Rehabilitation Medicine The University of Chicago Medical Center Chicago IL USA.
Guowei ShenMolecular Oncology Laboratory Department of Orthopaedic Surgery and Rehabilitation Medicine The University of Chicago Medical Center Chicago IL USA.
Wulin YouMolecular Oncology Laboratory Department of Orthopaedic Surgery and Rehabilitation Medicine The University of Chicago Medical Center Chicago IL USA.
Changqi LuoMolecular Oncology Laboratory Department of Orthopaedic Surgery and Rehabilitation Medicine The University of Chicago Medical Center Chicago IL USA.
Tong-Chuan HeMolecular Oncology Laboratory Department of Orthopaedic Surgery and Rehabilitation Medicine The University of Chicago Medical Center Chicago IL USA.ORCID https://orcid.org/0000-0001-7721-3934
Russell R ReidMolecular Oncology Laboratory Department of Orthopaedic Surgery and Rehabilitation Medicine The University of Chicago Medical Center Chicago IL USA.
Lewis S ShiMolecular Oncology Laboratory Department of Orthopaedic Surgery and Rehabilitation Medicine The University of Chicago Medical Center Chicago IL USA.
Michael J LeeMolecular Oncology Laboratory Department of Orthopaedic Surgery and Rehabilitation Medicine The University of Chicago Medical Center Chicago IL USA.
Yi ZhuMolecular Oncology Laboratory Department of Orthopaedic Surgery and Rehabilitation Medicine The University of Chicago Medical Center Chicago IL USA.ORCID https://orcid.org/0000-0002-5846-0080

Funding

Multi-Tissue Craniofacial Engineering using 3D-BMP9-Notch-Synergized Graphene Citrate Composite ScaffoldsR01DE030480 · NIDCR · UNIVERSITY OF CHICAGO · PI REID, RUSSELL R. · 2021 to 2025
$2.3M
A genomewide discovery of chemoresistance-associated noncoding RNAs in human cancersR21CA226303 · NCI · UNIVERSITY OF CHICAGO · PI HE, TONG-CHUAN · 2018 to 2019
$381k
NCI NIH HHS R21 CA226303NIDCR NIH HHS R01 DE030480
6 · The paper itself

Abstract

Spina bifida is a birth defect resulting from abnormal embryonic development of the neural tube. Though spina bifida is divided into several subtypes, myelomeningocele-the most severe form of spina bifida often associated with a markedly diminished quality of life-accounts for a significant portion of cases. A broad range of genetic and environmental factors, many of which are still unknown, influence spina bifida, making it difficult to provide a comprehensive etiology for the disorder. Folic acid supplementation aided by the mandatory fortification of food is preventive; still, spina bifida persists due to numerous other confounding factors that affect risk. This article reviews the latest studies pertaining to the risk factors and genetics involved in spina bifida in an attempt to elucidate the complex background of the congenital malformation. Additionally, this review highlights the significant impact of environmental pollutants, adverse medication effects, and maternal health conditions such as diabetes and obesity on the prevalence of spina bifida. Emerging research on gene-environment interactions provides insight into how specific genetic variants may influence susceptibility to these environmental factors. We also discuss new technologies in genetic sequencing that show promise for the large-scale discovery of genes associated with spina bifida risk. Understanding these intricate interactions is crucial for developing effective prevention and intervention strategies.

Indexed as

geneticsneural tube defectsrisk factorsspina bifidaspinal dysraphism

Identifiers

PMID40666233
PMCPMC12258106

What Socratic holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.