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Malformations et maladies congénitales, héréditaires et néonatales
Malformations
Malformations du système nerveux
Anomalies du tube neural
Anomalies du tube neural : Questions médicales fréquentes
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"name": "Comment diagnostique-t-on une anomalie du tube neural ?",
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"text": "Le diagnostic se fait par échographie prénatale et tests génétiques."
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{
"@type": "Question",
"name": "Quels examens sont utilisés pour confirmer le diagnostic ?",
"position": 2,
"acceptedAnswer": {
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"text": "L'amniocentèse et l'échographie 3D peuvent confirmer les anomalies."
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"@type": "Question",
"name": "À quel moment le diagnostic est-il généralement posé ?",
"position": 3,
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"text": "Le diagnostic est souvent posé entre la 12e et la 20e semaine de grossesse."
}
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{
"@type": "Question",
"name": "Quels signes échographiques indiquent une anomalie ?",
"position": 4,
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"text": "Des signes comme l'absence de boîte crânienne ou des malformations vertébrales."
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"@type": "Question",
"name": "Peut-on détecter ces anomalies après la naissance ?",
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"@type": "Question",
"name": "Quels sont les symptômes d'une anomalie du tube neural ?",
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"@type": "Question",
"name": "Les anomalies du tube neural causent-elles des douleurs ?",
"position": 7,
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"text": "Les douleurs ne sont pas typiques, mais des complications peuvent entraîner des douleurs."
}
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"@type": "Question",
"name": "Comment se manifestent les anomalies après la naissance ?",
"position": 8,
"acceptedAnswer": {
"@type": "Answer",
"text": "Elles peuvent se manifester par des difficultés motrices et des retards de développement."
}
},
{
"@type": "Question",
"name": "Les anomalies du tube neural affectent-elles la cognition ?",
"position": 9,
"acceptedAnswer": {
"@type": "Answer",
"text": "Elles peuvent affecter la cognition, selon la gravité et le type d'anomalie."
}
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{
"@type": "Question",
"name": "Y a-t-il des signes visibles à la naissance ?",
"position": 10,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des signes comme une hernie spinale ou des malformations crâniennes peuvent être visibles."
}
},
{
"@type": "Question",
"name": "Comment prévenir les anomalies du tube neural ?",
"position": 11,
"acceptedAnswer": {
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"text": "La prise d'acide folique avant et pendant la grossesse réduit le risque."
}
},
{
"@type": "Question",
"name": "Quel est le dosage recommandé d'acide folique ?",
"position": 12,
"acceptedAnswer": {
"@type": "Answer",
"text": "Un dosage de 400 à 800 microgrammes par jour est recommandé pour les femmes enceintes."
}
},
{
"@type": "Question",
"name": "Y a-t-il d'autres mesures préventives ?",
"position": 13,
"acceptedAnswer": {
"@type": "Answer",
"text": "Éviter l'alcool et le tabac, et gérer les maladies chroniques sont également importants."
}
},
{
"@type": "Question",
"name": "Les vaccinations influencent-elles le risque ?",
"position": 14,
"acceptedAnswer": {
"@type": "Answer",
"text": "Certaines vaccinations sont recommandées pour protéger la santé maternelle et fœtale."
}
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{
"@type": "Question",
"name": "Les antécédents familiaux augmentent-ils le risque ?",
"position": 15,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des antécédents familiaux d'anomalies du tube neural peuvent augmenter le risque."
}
},
{
"@type": "Question",
"name": "Quels traitements sont disponibles pour ces anomalies ?",
"position": 16,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les traitements incluent la chirurgie, la rééducation et le soutien psychologique."
}
},
{
"@type": "Question",
"name": "La chirurgie est-elle toujours nécessaire ?",
"position": 17,
"acceptedAnswer": {
"@type": "Answer",
"text": "Non, la nécessité de la chirurgie dépend de la gravité de l'anomalie."
}
},
{
"@type": "Question",
"name": "Quels types de rééducation sont recommandés ?",
"position": 18,
"acceptedAnswer": {
"@type": "Answer",
"text": "La rééducation physique et l'orthophonie sont souvent recommandées."
}
},
{
"@type": "Question",
"name": "Y a-t-il des traitements médicamenteux ?",
"position": 19,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des médicaments peuvent être prescrits pour gérer les symptômes associés."
}
},
{
"@type": "Question",
"name": "Comment le soutien psychologique aide-t-il ?",
"position": 20,
"acceptedAnswer": {
"@type": "Answer",
"text": "Il aide les familles à faire face aux défis émotionnels et pratiques des anomalies."
}
},
{
"@type": "Question",
"name": "Quelles complications peuvent survenir ?",
"position": 21,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les complications incluent des infections, des troubles neurologiques et des problèmes de mobilité."
}
},
{
"@type": "Question",
"name": "Les anomalies du tube neural peuvent-elles entraîner des décès ?",
"position": 22,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, certaines anomalies graves peuvent entraîner des décès néonatals."
}
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"@type": "Question",
"name": "Comment les complications affectent-elles la qualité de vie ?",
"position": 23,
"acceptedAnswer": {
"@type": "Answer",
"text": "Elles peuvent limiter les activités quotidiennes et nécessiter des soins constants."
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"@type": "Question",
"name": "Y a-t-il des complications à long terme ?",
"position": 24,
"acceptedAnswer": {
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"text": "Oui, des complications à long terme peuvent inclure des troubles cognitifs et moteurs."
}
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"@type": "Question",
"name": "Les complications sont-elles évitables ?",
"position": 25,
"acceptedAnswer": {
"@type": "Answer",
"text": "Certaines complications peuvent être évitées par un suivi médical approprié."
}
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{
"@type": "Question",
"name": "Quels sont les principaux facteurs de risque ?",
"position": 26,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les facteurs incluent des antécédents familiaux, le diabète et la carence en acide folique."
}
},
{
"@type": "Question",
"name": "L'âge maternel influence-t-il le risque ?",
"position": 27,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les femmes de plus de 35 ans ont un risque accru d'anomalies du tube neural."
}
},
{
"@type": "Question",
"name": "Les médicaments peuvent-ils augmenter le risque ?",
"position": 28,
"acceptedAnswer": {
"@type": "Answer",
"text": "Certains médicaments, comme les antiépileptiques, peuvent augmenter le risque."
}
},
{
"@type": "Question",
"name": "Le poids maternel joue-t-il un rôle ?",
"position": 29,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, l'obésité maternelle est un facteur de risque pour les anomalies du tube neural."
}
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"@type": "Question",
"name": "Les infections pendant la grossesse sont-elles un risque ?",
"position": 30,
"acceptedAnswer": {
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"text": "Certaines infections, comme la rubéole, peuvent augmenter le risque d'anomalies."
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Neural tube defects (NTD), such as spina bifida, are surgically treatable and primarily preventable non-communicable diseases. How incidence, mortality and disability-adjusted life year (DALYs) rates ...
A retrospective review of data from the Global Burden of Disease Study 2019 Database was performed. Global, regional, and national outcomes for NTD were collected for incidence, mortality, and DALY ra...
Globally, the latest age-standardized rates of incidence, mortality, and DALYs of NTD were 2.1 per 100,000 population, 1.3 per 1000,000, and 117 per 100,000 respectively. All rates demonstrated decrea...
Between 1990 and 2019, overall trends in incidence, mortality, and DALY rates of NTD have been favorably downtrending globally. Regionally, these rates in the highest sub-Saharan Africa were 8 times g...
Metallic elements play a pivotal role in maternal and fetal health. Metals can cross the placental barrier and be absorbed by fetuses, where they may affect closure of the neural tube during embryonic...
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We describe two female patients with Down syndrome presenting Bladder Bowel Dysfunction in association with neural tube defects, who both underwent personalized multidisciplinary intervention and pelv...
At present, no screening program has been established in order to rule out neural tube defects or neurogenic urinary anomalies in Down syndrome patients presenting bowel and/or bladder dysfunction. In...
Exposure to copper, silver, and titanium has been reported to be associated with a variety of adverse effects on humans, but it is little focused on the fetus. We investigated the associations between...
To present a case study of the considerations of mandatory fortification with folic acid in Australia and New Zealand....
Review of published reports and consumer advocacy views....
Australia and New Zealand jointly approved mandatory fortification of flour with folic acid to prevent neural tube defects in 2007. Fortification was fully implemented in Australia in 2009 and has res...
In large part as a response to consumer pressure, New Zealand has now joined with Australia (and around 70 other countries) in fortifying flour with folic acid for the prevention of NTD....
In 1996, the US Food and Drug Administration (FDA) mandated folic acid fortification for all enriched cereal grains. This resulted in a reduction of neural tube defect (NTD)-affected pregnancies. Howe...
Normal pregnancies and those complicated by NTDs between 1/1/2016 and 9/30/2020 were identified using ICD-9 and ICD-10 codes in an all-payor claims database. The post-fortification period began 12 mon...
A total of 2,584,366 pregnancies were identified among females aged 15-50 years. Of these, 365,983 took place in predominantly Hispanic zip codes. Mean quarterly NTDs per 100,000 pregnancies did not s...
Rates of neural tube defects were not significantly reduced in predominantly Hispanic zip codes following the 2016 FDA approval of voluntary folic acid fortification of corn masa flour. Further resear...
To determine the efficacy of three different maternal screening programs (first-trimester screening [FTS], individual second-trimester screening [ISTS], and first- and second-trimester combined screen...
A retrospective cohort involving 108,118 pregnant women who received prenatal screening tests during the first (9-13+6 weeks) and second trimester (15-20+6 weeks) in Hangzhou, China from January-Decem...
The high and intermediate risk positivity rates for trisomy 21 screening with FSTCS (2.40% and 5.57%) were lower than ISTS (9.02% and 16.14%) and FTS (2.71% and 7.19%); there were statistically signif...
FSTCS was superior to FTS and ISTS screening and substantially reduced the number of high risk pregnancies for trisomy 21 and 18; however, FSTCS was not significantly different in detecting fetal tris...
Neural tube defects continue to be one of the main congenital malformations affecting the development of the nervous system and a significant cause of disability and disease burden to individuals livi...
This article discusses the main barriers and facilitators for implementing mandatory food fortification as an evidence-based policy to prevent neural tube defects worldwide....
A comprehensive review of the scientific literature allowed the identification of the determinant factors acting as barriers or facilitators for the reach, adoption, implementation, and scaling up of ...
We identified eight barriers and seven facilitators as determinant factors for food fortification policies. The identified factors were classified as individual, contextual, and external, inspired by ...
Several determinant factors acting as barriers or facilitators influence the implementation of mandatory food fortification as an evidence-based policy worldwide. Notoriously, policymakers in many cou...
Anencephaly, encephalocele, and spina bifida are congenital neural tube defects and are the main causes of neonatal morbidity and mortality and impose a heavy economic burden on health systems. This s...
Neural tube defects represent a global public health problem, mainly in countries where effective prevention strategies are not yet in place. The global prevalence of neural tube defects is estimated ...
This paper reviews the extent of the problem, including the most recent global information on folate status in women of reproductive age and the most recent estimates of the prevalence of neural tube ...
Large-scale food fortification with folic acid is the most successful and effective intervention to reduce the prevalence of neural tube defects and associated infant mortality. This strategy requires...
We propose a logical model for building a national-level strategic plan for mandatory LSFF with folic acid and explain the actions needed for promoting sustainable system-level change....