Occurrence of neural tube defects among first‐, second‐, and third‐degree relatives of probands: Results of a United States study

Toriello, Helga V.; Higgins, James V.

doi:10.1002/ajmg.1320150409

Cited by 56 publications

(25 citation statements)

References 15 publications

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“…18 In our study we also had higher rate of previous history of NTDs in NTD group and it was observed that 93.3% of the women were having a baby with NTDs in this group whereas in the controlled group 94.4% were having previous normal babies. which favored the hypothesis that prevention of the first occurrence of NTDs is of real public health importance.…”

supporting

confidence: 60%

Neural Tube Defects (Ntds); Risk Factors Associated With Congenital Neural Tube Defects

Sahahzad

2017

TPMJ

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supporting

confidence: 60%

Neural Tube Defects (Ntds); Risk Factors Associated With Congenital Neural Tube Defects

Sahahzad

2017

TPMJ

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“…Other genetic mechanisms of transmission, such as an X-linked recessive gene, a dominant gene with variable penetrance or polygenic transmission have been suggested to explain this tendency to recur within families. 5 In our study none of the parents gave history of a previously affected child and hence genetic co relation was not assessed in our study.…”

Section: Discussionmentioning

confidence: 94%

Study of clinical profile and associated anamalies and surgical outcome of spina bifida

2017

Int Surg J

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Background: Neural tube defects (NTDs) are a group of congenital anomalies characterized by defects in dorsal midline structures, including neural tissue, dura, muscle, bone and/or skin. The clinical presentations and the followup of these patients require attention to various end organs besides the nervous system. The aim was to evaluate the clinical profile and surgical outcome of children with spina bifida. Methods: Out of a total of 74 patients treated at our institute for spina bifida between June 2013 to August 2015, 74 cases of spina bifida were analyzed retrospectively and prospectively. The clinical profile, radiological findings and urodynamic studies were recorded. Craniospinal MRI was done in patients to screen for Arnold Chiari malformations and monitoring of hydrocephalus was done as a management protocol at our institute for these children. All these patients except two underwent surgery for correction and closure of the spinal defect. Associated anomalies were treated accordingly. They were clinically assessed over a mean follow up period of 11months ranging from 2months to 2 ½ years. Results: 73% of the patients presented in the neonatal age group. Of which, 72% presented with a visible sac over the back.72% of the cases were myelomeningocoeles. 79% of the defects were in the lumbosacral region. 30% presented with sensorimotor loss or bladder bowel incontinence. Sensorimotor improvement was seen in 12.5% after repairing the defect with the help of physiotherapy and braces. 30% of the patients were diagnosed to have hydrocephalus, of which 33% required a CSF diversion procedure. The postoperative course of spina bifida repair was found to be uneventful in 90% of the patients. Conclusions: A multidisciplinary approach is required to address this disease. Early diagnosis, surgical management and rehabilitation can prevent further neurological damage and can improve quality of life in patients with spina bifida.

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“…However, we also found that the proposal of the multifactorial threshold hypothesis for common human birth defects was in fact partly based on data for NTDs (Carter, 1969, 1974). Furthermore, subsequent extensive studies of human NTDs (Lippman‐Hand et al, 1978; Toriello and Higgins, 1983; Czeizel and Metneki, 1984; Hunter, 1984; Koch and Fuhrmann, 1985) tested the multifactorial model's predictions and tested and rejected the hypotheses of simple recessive or dominant inheritance with low penetrance, at least for Caucasian populations.…”

Section: Introductionmentioning

confidence: 99%

Mouse mutants with neural tube closure defects and their role in understanding human neural tube defects

Harris

Juriloff

2006

Birth Defects Research

280

325

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BACKGROUND:The number of mouse mutants and strains with neural tube closure defects (NTDs) now exceeds 190, including 155 involving known genes, 33 with unidentified genes, and eight ''multifactorial'' strains. METHODS: The emerging patterns of mouse NTDs are considered in relation to the unknown genetics of the common human NTDs, anencephaly, and spina bifida aperta. RESULTS: Of the 150 mouse mutants that survive past midgestation, 20% have risk of either exencephaly and spina bifida aperta or both, parallel to the majority of human NTDs, whereas 70% have only exencephaly, 5% have only spina bifida, and 5% have craniorachischisis. The primary defect in most mouse NTDs is failure of neural fold elevation. Most null mutations (>90%) produce syndromes of multiple affected structures with high penetrance in homozygotes, whereas the ''multifactorial'' strains and several null-mutant heterozygotes and mutants with partial gene function (hypomorphs) have low-penetrance nonsyndromic NTDs, like the majority of human NTDs. The normal functions of the mutated genes are diverse, with clusters in pathways of actin function, apoptosis, and chromatin methylation and structure. The female excess observed in human anencephaly is found in all mouse exencephaly mutants for which gender has been studied. Maternal agents, including folate, methionine, inositol, or alternative commercial diets, have specific preventative effects in eight mutants and strains. CONCLUSIONS: If the human homologs of the mouse NTD mutants contribute to risk of common human NTDs, it seems likely to be in multifactorial combinations of hypomorphs and low-penetrance heterozygotes, as exemplified by mouse digenic mutants and the oligogenic SELH/Bc strain.

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Occurrence of neural tube defects among first‐, second‐, and third‐degree relatives of probands: Results of a United States study

Cited by 56 publications

References 15 publications

Neural Tube Defects (Ntds); Risk Factors Associated With Congenital Neural Tube Defects

Neural Tube Defects (Ntds); Risk Factors Associated With Congenital Neural Tube Defects

Study of clinical profile and associated anamalies and surgical outcome of spina bifida

Mouse mutants with neural tube closure defects and their role in understanding human neural tube defects

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