ReviewDevelopmental disabilities research reviews2010
Epidemiologic and genetic aspects of spina bifida and other neural tube defects.
Review in Developmental disabilities research reviews, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 121 papers, 1 of them a synthesis that pooled 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.
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.
Who cites it
121 citing papers in PubMed, 1 synthesis or guideline pooled it, 339 citations in OpenAlex.
- Clinical and urodynamic findings in children and adolescents with neurogenic bladder undergoing augmentation cystoplasty: a systematic review.Pediatric nephrology (Berlin, Germany) · 2025Pooled it
- Concordant Open Neural Tube Defects in a Monochorionic Twin Pair of a Dichorionic-Triamniotic Triplet Gestation.AJP reports · 2026Article
- The Effect of Phosphoric Acid on the Development of Neural Tube Defects in Chick Embryos.Medical science monitor : international medical journal of experimental and clinical research · 2026Article
- Incidence, management, follow-up and long-term outcomes of spinal dysraphism in a cohort of diverse origins and cultures: a 17-year cohort study.BMC pregnancy and childbirth · 2026Article
- Cranial lateral dermal sinus tract: illustrative case.Journal of neurosurgery. Case lessons · 2026Article
- Excessive DNA Double-Strand Breaks-Associated 3D Genome Reorganization Contributes to Neural Tube Defects with Folate Deficiency.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2025Article
- Trends in neural tube defects in Scotland in 2000-2021 prior to the introduction of mandatory folic acid fortification of non-wholemeal wheat flour: a population-based study.Archives of disease in childhood · 2025Article
- Review
- Prevalence and Metabolic Characterization of Polycystic Ovary Syndrome in a Cohort of Patients Diagnosed with Spina Bifida: Study Protocol.Children (Basel, Switzerland) · 2025Article
- Focal Adhesion Kinase Variants May Contribute to Risk of Human Myelomeningocele.medRxiv : the preprint server for health sciences · 2025Article
- Myelomeningocele in the Pediatric Neurosurgery Department at Bernard Mevs Hospital in Haiti: A Retrospective Analysis.Neurosurgery practice · 2025Article
- Association between orthopedic manifestations and tethered cord release in patients with spina bifida: a survival analysis.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2025Article
- Cognitive, Behavioral and Educational Outcomes in Children Aged 5-11 Years With Spina Bifida in Northern Ireland.Birth defects research · 2025Article
- Gestational Diabetes in Women with Fetal Spina Bifida Repair-Influence of Perioperative Management.Journal of clinical medicine · 2024Article
- Characteristics and predictors of chronic kidney disease in children with myelomeningocele: a nationwide cohort study.Pediatric nephrology (Berlin, Germany) · 2024Article
- Multidisciplinary management of people with spina bifida across the lifespan.Pediatric nephrology (Berlin, Germany) · 2024Review
- Fetal Spina Bifida Repair in Obese Mothers: Is Maternal and Fetal Safety Compromised?Fetal diagnosis and therapy · 2024Article
- Bayesian polygenic risk estimation approach to nuclear families with discordant sib-pairs for myelomeningocele.PloS one · 2024Article
- Spina bifida, the normal, the pathological and the in-between: first evidence from a forensic osteological collection.International journal of legal medicine · 2024Article
- Maternal factors for neural tube defects in offspring: An umbrella review.Open medicine (Warsaw, Poland) · 2024Review
61 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 1 institution in 1 country.
Funding
Abstract
The worldwide incidence of neural tube defects (NTDs) ranges from 1.0 to 10.0 per 1,000 births with almost equal frequencies between two major categories: anencephaly and spina bifida (SB). Epidemiological studies have provided valuable insight for (a) researchers to identify nongenetic and genetic factors contributing to etiology, (b) public health officials to design and implement policies to prevent NTD pregnancies, and (c) individuals to take precautions to reduce the chance of having an NTD-affected pregnancy. Despite extensive research, our knowledge of the genetic etiology of human NTDs is limited. Although more than 200 small animal models with NTDs exist, most of these models do not replicate the human disease phenotype. Over a hundred candidate genes have been examined for risk association to human SB. The candidate genes studied include those important in folic acid metabolism, glucose metabolism, retinoid metabolism, and apoptosis. Many genes that regulate transcription in early embryogenesis and maintain planar cell polarity have also been tested as candidates. Additionally, genes identified through mouse models of NTDs have been explored as candidates. We do not know how many genes in the human genome may confer risk for NTDs in human. Less than 20% of the studied candidate genes have been determined to confer even a minor effect on risk association. Many studies have provided conflicting conclusions due to limitations in study design that potentially affect the power of statistical analysis. Future directions such as genomewide association studies (GWAS) and whole exome or even whole genome sequencing are discussed as possible avenues to identify genes that affect risk for human NTDs.
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Registered trials
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 OpenQuestion graph.