Raras
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Iniencefalia aberta
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Introdução

O que você precisa saber de cara

📋

Iniencefalia é um tipo raro de anomalia cefálica caracterizada por três características comuns: um defeito no osso occipital, espinha bífida das vértebras cervicais e retroflexão da cabeça sobre a coluna cervical. Natimorto é o desfecho mais comum, com alguns exemplos raros de nascidos vivos, após os quais a morte invariavelmente ocorre em um curto período de tempo.

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
Unknown
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.0
Worldwide
Início
Infancy
+ neonatal
🏥
SUS: Cobertura mínimaScore: 15%
CID-10: Q00.2
🇧🇷Dados SUS / DATASUS
PROCEDIMENTOS SIGTAP (5)
0202010503
Cariótipo — bandas G, Q ou Rgenetic_test
0202010600
Pesquisa de microdeleções/microduplicações por FISHlab_test
0202010694
Sequenciamento completo do exoma (WES)rehabilitation
0202010260
Dosagem de alfa-fetoproteína
0301070040
Atendimento em reabilitação — doenças raras
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Do básico ao detalhe, leia no seu ritmo

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Sinais e sintomas

O que aparece no corpo e com que frequência cada sintoma acontece

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Últimos 10 anos200publicações
Pico202485 papers
Linha do tempo
2026Hoje · 2026📈 2024Ano de pico
Publicações por ano (últimos 10 anos)

Encontrou um erro ou informação desatualizada? Sugira uma correção →

Genética e causas

O que está alterado no DNA e como passa nas famílias

🧬

Nenhum gene associado encontrado

Os dados genéticos desta condição ainda estão sendo catalogados.

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Carregando informações de tratamento...

Onde tratar no SUS

Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)

🇧🇷 Atendimento SUS — Iniencefalia aberta

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Selecione um estado ou use sua localização para ver resultados.

Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.

Pesquisa ativa

Ensaios clínicos abertos e novidades científicas recentes

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Publicações mais relevantes

Timeline de publicações
0 papers (10 anos)
#1

Sleep-Disordered Breathing in Newborns After Myelomeningocele Repair.

Pediatrics2026 Feb 01

Sleep-disordered breathing (SDB) may be a remediable contributor to abnormal cognitive outcomes for children with myelomeningocele. We investigated the frequency of SDB among neonates with fetal vs postnatal myelomeningocele repair. In this nine-center, prospective, observational study, neonates with myelomeningocele born at more than 30 weeks gestational age underwent a 10-hour bedside polysomnogram at at least 35 weeks postmenstrual age, before hospital discharge. The primary outcome was SDB severity, reflected by the apnea-hypopnea index (AHI; number of respiratory events per hour of sleep). Decisions regarding surgical timing (fetal vs postnatal), technique (open fetal vs fetoscopic approach), and SDB treatment were made by the clinical teams. Among 173 infants, 92/173 (53%) had SDB (median AHI 22.5, IQR 12.2-44.2). In unadjusted analysis, AHI was higher among the 90 neonates with fetal repair vs 83 with postnatal surgery (median 29, IQR 14-49, vs 19, IQR 10-36, P = .008). In propensity-adjusted multivariable models, prematurity was independently associated with AHI, whereas surgical timing (fetal vs postnatal) was not. Hindbrain herniation, myelomeningocele level, and clinical need for ventriculoperitoneal shunt did not predict AHI in adjusted models. Supplemental oxygen was commonly prescribed, for 44% of fetal vs 39% of postnatal myelomeningocele repair infants (P = .5). SDB affects more than half of neonates with myelomeningocele. The higher AHI after fetal surgery could stem from the elevated incidence of prematurity in this group. As SDB is treatable and has a potential impact on neurodevelopment, routine screening could become an integral part of a strategy to optimize long-term medical and neurodevelopmental outcomes.

#2

Prevalence of major structural congenital abnormalities detected on infant surface examination in Botswana, 2014-2022: a birth outcomes surveillance study.

BMJ paediatrics open2026 Jan 04

Population-level research focused on major congenital abnormalities (MCAs) in sub-Saharan Africa is needed. The Tsepamo study estimated the prevalence of MCAs evaluable on neonatal surface examinations in Botswana. Data were collected from up to 18 government hospitals throughout Botswana. Surface examinations were conducted by trained nurses after birth, and photographs and/or descriptions were used to identify and classify MCAs. Birth defects were categorised as MCAs if they were of clinical, surgical or cosmetic importance. We estimated MCA prevalence for all live and stillborn infants who were not exposed to HIV in utero. Variation by site, calendar year and season of MCAs (and, separately, of neural tube defects (NTDs)) was evaluated with the χ2 and Benjamini-Hochberg methods. There were 1066 newborns with at least one MCA (59.3 (95% CI 55.8 to 62.9) per 10 000 births). NTDs accounted for 112 (10.5%) MCAs (6.2 (95% CI 5.2 to 7.5) per 10 000 births). Limb defects accounted for the majority of the birth defects (32.4 (95% CI 29.9 to 35.1) per 10 000 births), followed by major nervous system defects (16.7 (95% CI 14.9 to 18.7) per 10 000 births). The most common individual MCA was talipes (clubfoot) (18.5 (95% CI 16.6 to 20.6) per 10 000 births). While there was no meaningful variability of total MCAs by calendar year or season of conception, there was notable variation of NTDs by these factors. The estimated prevalence of MCAs was 59.3 (95% CI 55.8 to 62.9) per 10 000 births. While NTD prevalence varied by calendar year and season of conception, overall MCA prevalence did not. Ongoing surveillance of MCAs is needed to monitor the occurrence of birth defects and support preventive interventions in Botswana and the region.

#3

Knowledge of the Importance of Folic Acid Among Women of Childbearing Age in the United Arab Emirates: A Cross-Sectional Study.

Cureus2026 Feb

Adequate folic acid intake before and during early pregnancy is essential for the prevention of neural tube defects (NTDs). Despite established recommendations, gaps in knowledge and appropriate use of folic acid persist among women of reproductive age. This study aimed to assess the level of knowledge regarding folic acid and its role in pregnancy among women of childbearing age in the United Arab Emirates (UAE) and to identify factors associated with better awareness. A cross-sectional study was conducted among women aged 18-49 years residing in the UAE using a self-administered online questionnaire distributed via social media platforms. Non-probability sampling methods, including snowball and voluntary sampling, were employed. Data were analyzed using IBM SPSS Statistics for Windows, V. 28.0 (IBM Corp., Armonk, NY, USA). Descriptive statistics were used to summarize responses, and associations between knowledge levels and sociodemographic variables were examined using chi-squared tests and Spearman's correlation. A total of 379 women participated (median age: 31 years). Overall awareness of folic acid was high (333/379, 87.9%); however, only 214/379 (56.5%) correctly identified its role in preventing NTDs, and 147/379 (38.7%) recognized that supplementation should begin before conception. Higher educational attainment was significantly associated with better knowledge of folic acid (Spearman's r = 0.219; p = 0.001), while no significant association was found between knowledge level and previous pregnancy history (p = 0.124). Healthcare providers were the most commonly reported source of information (271/379, 71.5%). Although awareness of folic acid among women of childbearing age in the UAE is relatively high, important gaps remain regarding its preventive role and the optimal timing of supplementation. Strengthening preconception education through healthcare services and public health initiatives is essential to improve maternal and fetal health outcomes.

#4

Chiari II brain malformation is secondary to open spina bifida.

Disease models &amp; mechanisms2026 Mar 18

Chiari II brain malformation affects 90% of children with open spina bifida. Hindbrain herniation leads to hydrocephalus, together with higher brain anomalies including cerebral cortical defects implicated in learning disability, which affects 20-25% of children with spina bifida. The causal link between Chiari II and spina bifida has long been debated, and we aimed to determine whether Chiari II arises secondary to spina bifida, rather than as a separate effect of shared genetic or non-genetic factor(s). Pax3 gene function was conditionally deleted by Cdx2cre specifically in the lower body of mice, leaving the head genetically intact. Open spina bifida is seen in all Cdx2cre/+; Pax3fl/fl fetuses, together with many features of Chiari II in the wild-type brain and skull. These include: hindbrain herniation, callosal and hippocampal hypogenesis, cortical thinning with neuronal heterotopia, a thickened ventricular zone, and posterior skull defects. Hence, the brain and skull defects of Chiari II arise secondary to open spina bifida, with likely disturbance of neurogenesis and neuronal migration early in gestation. The Cdx2cre/+; Pax3fl/flmouse provides a model for improved understanding of Chiari II pathogenesis.

#5

Advances in the prevention and prenatal treatment of spina bifida.

Discoveries (Craiova, Romania)2026

Spina bifida is a neural tube defect (NTD) that arises when the neural tube fails to close properly during early development. This review focuses on myelomeningocele (MMC), the most common severe form of spina bifida, which often leads to motor and sensory impairments, including lower limb weakness or paralysis, as well as renal, urological, orthopedic, developmental, and psychosocial challenges. We explore the etiology, pathogenesis, prevention, diagnosis, and management of spina bifida, with a special emphasis on in-utero surgical repair. Over the past several decades, researchers and clinicians have made remarkable strides across all stages of care from prevention to postnatal outcomes. Widespread use of folic acid supplementation has significantly reduced the number of new cases. Advances in prenatal imaging and diagnostics now allow for earlier and more accurate detection, enabling timely intervention. In-utero surgical techniques continue to evolve, with innovative hybrid approaches that combine the strengths of open and minimally invasive methods. The momentum in this field shows no sign of slowing. Promising developments in stem cell therapy, biomaterials, robotic-assisted surgery, 3D printing, and enhanced imaging are redefining treatment goals in spina bifida. With each advance, clinicians gain better tools to improve outcomes for both mother and child, minimizing risks and maximizing long-term health and quality of life for both patients.

Publicações recentes

Ver todas no PubMed

📚 EuropePMCmostrando 198

2026

Knowledge of the Importance of Folic Acid Among Women of Childbearing Age in the United Arab Emirates: A Cross-Sectional Study.

Cureus
2026

Chiari II brain malformation is secondary to open spina bifida.

Disease models &amp; mechanisms
2025

[Prenatal repair of open spina bifida: history, present, and future].

Andes pediatrica : revista Chilena de pediatria
2026

Advances in the prevention and prenatal treatment of spina bifida.

Discoveries (Craiova, Romania)
2026

Integrating Mathematics into Prenatal Diagnosis-Different Phenotypes of Complex Ventral Wall Malformations Determined by Hierarchical Clustering.

Journal of clinical medicine
2026

Open Fetal Versus Postnatal Repair of Spina Bifida Aperta-A Comparison of Neonatal Outcomes.

Prenatal diagnosis
2026

Association between fetal brain diffusion-weighted imaging and postnatal neurodevelopmental outcome after prenatal myelomeningocele repair.

Ultrasound in obstetrics &amp; gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology
2026

Sleep-Disordered Breathing in Newborns After Myelomeningocele Repair.

Pediatrics
2026

Maternal Subcutaneous Seroma following Open Maternal Fetal Surgery for Closure of Fetal Open Neural Tube Defects.

Fetal diagnosis and therapy
2026

Development of a Deep Learning Algorithm for Posterior Fossa Abnormality Recognition on First-Trimester US Screening Scans: AIRFRAME Study Part 1.

Radiology. Artificial intelligence
2025

Folic Acid and Pregnancy: Assessing Awareness, Timing, and Use of Folic Acid Among Pregnant Women in Medinah, Kingdom of Saudi Arabia.

Cureus
2026

Prevalence of major structural congenital abnormalities detected on infant surface examination in Botswana, 2014-2022: a birth outcomes surveillance study.

BMJ paediatrics open
2026

Prenatal Identification of a Novel ITGB4 Gene Mutation Associated With Junctional Epidermolysis Bullosa: A Case Report.

Clinical case reports
2026

Understanding Disease Aetiology and Related Needs Knowledge of Parents of Children With Spina Bifida.

Child: care, health and development
2025

Parental Characteristics Associated With Children Born With Neural Tube Defects in Puebla, Mexico.

Cureus
2025

Fetal surgery for myelomeningocele: initial results of a tertiary public hospital.

Revista brasileira de ginecologia e obstetricia : revista da Federacao Brasileira das Sociedades de Ginecologia e Obstetricia
2025

Severe myelomeningocele in the fourth pregnancy of a 29-year-old woman: a case report.

Romanian journal of morphology and embryology = Revue roumaine de morphologie et embryologie
2025

Tissue-Specific Expression of Glutathione-S-Transferase Isoforms in Myelomeningocele: An Immunohistochemical Study.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2026

Evolving Practices in Prenatal Open Spinal Dysraphism: A Global Survey of Selection Criteria, Surgical Techniques, and Diagnostic Trends.

Prenatal diagnosis
2025

Myelomeningocele closure: A review and decision-making guidance.

JPRAS open
2025

In-utero repair of open neural tube defects, lesion closure techniques and the choice of patch.

Best practice &amp; research. Clinical obstetrics &amp; gynaecology
2026

Prenatal evolution of hindbrain herniation following fetal open neural tube defect repair.

Pediatric radiology
2025

Double jeopardy in early infancy: aperta lipomyelomeningocele with Chiari II malformation complicated by infantile hypertrophic pyloric stenosis.

BMJ case reports
2025

Gcm1 Orchestrates Lef1 Expression in Folate Deficiency-Induced Neural Tube Defects.

Molecular neurobiology
2025

Spina bifida as a congenital neurodevelopmental condition: Developing a philosophy of health care transition across the lifespan.

Journal of pediatric rehabilitation medicine
2025

Management of Prenatally Diagnosed Malformations of the Central Nervous System: Factors Influencing Decision-making and the Time of Termination of Pregnancy.

Geburtshilfe und Frauenheilkunde
2025

Maternal Immune Stimulation With Interferon-Gamma Limits Embryonic Valproic Acid Induced Apoptotic Gene Expression.

Birth defects research
2025

Evaluation of Inclusion Cysts and Granulation Tissue After Prenatal and Postnatal Myelomeningocele Repair.

Turkish neurosurgery
2025

Fetal Myelomeningocele Closure in the Setting of Maternal Body Mass Index 35 to 40.

Neurosurgery
2025

Delayed Diagnosis of Lumbosacral Lipomyelomeningocele With Tethered Cord: A Case Report.

Cureus
2025

Animal models of Chiari malformation types 1 and 2: Mechanistic insights and translational challenges.

Experimental neurology
2026

Open fetal surgery for spina bifida in a tertiary hospital in Argentina: short- and medium-term outcomes.

Archivos argentinos de pediatria
2025

Excessive DNA Double-Strand Breaks-Associated 3D Genome Reorganization Contributes to Neural Tube Defects with Folate Deficiency.

Advanced science (Weinheim, Baden-Wurttemberg, Germany)
2025

Naked sacrococcygeal teratoma associated with dorsal meningocoele and sacrococcygeal inversion: an atypical presentation of Currarino syndrome.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2025

Fetoscopic two-layer closure for open neural tube defects: prospective study of obstetric, surgical and perinatal outcomes in the first 50 cases.

Ultrasound in obstetrics &amp; gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology
2025

Reproductive outcomes following open maternal-fetal surgery for myelomeningocele closure: analysis of MOMS trial participants.

American journal of obstetrics &amp; gynecology MFM
2025

Folate supplement dosage for pregnant people with epilepsy: Survey of international experts recommendation and current practices.

Epileptic disorders : international epilepsy journal with videotape
2025

Evaluation of NOS3 894G>T (p.Glu298Asp) Variant as Risk Factor for Open Neural Tube Defects in Infants from Western Mexico.

Genetic testing and molecular biomarkers
2026

Folic Acid Supplementation in Spina Bifida Prophylaxis: Results from the Zurich Fetal Surgery Cohort.

Fetal diagnosis and therapy
2025

Comparative diagnostic accuracy of ultrasound and magnetic resonance imaging for spinal dysraphism in infants: insights from a single-center study.

Radiologie (Heidelberg, Germany)
2025

Morphometric analysis of spina bifida after fetal repair shows new subtypes with associated outcomes.

Ultrasound in obstetrics &amp; gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology
2025

Folic Acid Supplement Intake Before Pregnancy With and Without Educational Intervention: A Cross-Sectional Study in Japan.

Cureus
2025

Open repair versus fetoscopic fetal surgery: Which is the best approach for intrauterine myelomeningocele correction? Systematic review and meta-analysis.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2025

Comparison of open fetal, fetoscopic and postnatal surgical repair for open spina bifida: decision analysis.

Ultrasound in obstetrics &amp; gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology
2025

Mechanosensitive localization of Diversin highlights its function in vertebrate morphogenesis and planar cell polarity.

Biology open
2025

Closing the Gap: Prenatal Repair and the Reimagined Future of Spina Bifida.

Clinical obstetrics and gynecology
2025

Foundations of Myelomeningocele Management: History, Embryology, Diagnosis, and Treatment of Myelomeningoceles Through the Sheffield Study.

World neurosurgery
2025

From Sheffield to the Management of Myelomeningocele Study: The Modern Era of Myelomeningocele Management.

World neurosurgery
2025

Open Spinal Dysraphism Without Hindbrain Herniation-Natural History and Postnatal Outcome.

Prenatal diagnosis
2026

Effect of Sacral Neuromodulation for Neurogenic Bladder and Bowel Dysfunction in Spinal Dysraphism: A Prospective Cohort Study.

Neurosurgery
2025

Fetal imaging approach to spinal dysraphism diagnosis.

Pediatric radiology
2025

The Predictive Value of Dry Brain Sign for Open Spina Bifida at First Trimester Anomaly Scan: A Case-Control study.

Academic radiology
2025

Prenatal Repair of Spina Bifida Using Uterine Wound Retractor: A Single-Center Cohort Study.

Fetal diagnosis and therapy
2025

Benefits and complications of fetal and postnatal surgery for open spina bifida: systematic review and proportional meta-analysis.

Ultrasound in obstetrics &amp; gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology
2025

Isolation and characterization of human cKIT positive amniotic fluid stem cells obtained from pregnancies with spina bifida.

Scientific reports
2025

[Limited dorsal myeloschisis: From antenatal screening to postnatal evolution. About a series of cases from the Grand Est, Bourgogne and Franche-Comté].

Gynecologie, obstetrique, fertilite &amp; senologie
2025

Achieving water-tight open spina bifida closure through a novel three-port three-layer fetoscopic repair.

American journal of obstetrics &amp; gynecology MFM
2025

Atlantoaxial instability in Chiari formation- an analysis based on static and dynamic head imaging in 35 patients.

Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia
2025

Characteristic Analysis of Ultrasound Diagnosis of Limb Body Wall Complex in Early Pregnancy.

Prenatal diagnosis
2025

Pain characteristics and impact of pain in individuals with spina bifida: Systematic review and meta-analysis.

Disability and health journal
2025

Global variability in fetal spina bifida surgery: a survey of neurosurgical strategies.

Journal of neurosurgery. Pediatrics
2026

Use of Artificial Intelligence in Recognition of Fetal Open Neural Tube Defect on Prenatal Ultrasound.

American journal of perinatology
2025

Detailed analysis of hydrocephalus patterns and associated variables in patients after open fetal repair and postnatal myelomeningocele/myeloschisis closure.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2025

Outcome of Children With Prenatally Diagnosed Saccular Limited Dorsal Myeloschisis: The Importance of Accurate Diagnosis.

Prenatal diagnosis
2025

Effect of folic acid diet on the behavior of female mice and ultrasonic vocalization of their F1 offspring.

IBRO neuroscience reports
2025

Craniorachischisis Totalis: A Detailed Case Report.

Iranian journal of child neurology
2025

Maternal-fetal surgery for myelomeningocele longitudinal follow-up model: Mitigation of care fragmentation through care coordination and outcomes reporting.

Journal of pediatric rehabilitation medicine
2025

Impact of hippocampectomy on seizure freedom in temporal encephaloceles: A systematic review and individual participant data meta-analysis.

Epilepsia open
2025

Posterior-only hemivertebra bone-disc-bone osteotomy (BDBO) without internal fixation in a 15-day-old neonate with 18-year follow-up.

European spine journal : official publication of the European Spine Society, the European Spinal Deformity Society, and the European Section of the Cervical Spine Research Society
2025

Impact of Prenatal Repair for Fetal Myelomeningocele on Gastrointestinal Function.

The Journal of pediatrics
2025

Fetoscopic Robotic Open Spina Bifida Treatment (FROST): A Preclinical Feasibility and Learning Curve Study.

BJOG : an international journal of obstetrics and gynaecology
2025

Neural tube defects induce abnormal astrocyte development by activation and epigenetic permissiveness of STAT3.

Experimental neurology
2025

Amniotic Membrane Interposition Graft for Open Fetal Myelomeningocele Repair.

Operative neurosurgery (Hagerstown, Md.)
2025

The first experience with 16 open microsurgical fetal surgeries for myelomeningocele in Germany.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
2025

Timeliness of surgical repair among infants with myelomeningocele in a tertiary care hospital in Addis Ababa, Ethiopia.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2025

Study Findings Question Value of Including Race in Prenatal Screening for Birth Defects.

JAMA
2025

Outcomes Following Fetoscopic Repair of Myelomeningocele: A Prospective Single-Center Experience.

Prenatal diagnosis
2025

Ultrasound assessment of bladder and motor function in fetuses with open spina bifida: cohort study.

Ultrasound in obstetrics &amp; gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology
2024

Advances in spina bifida care: The global journey toward dignity, inclusion, and innovation.

Journal of pediatric rehabilitation medicine
2025

Fetoscopic repair of open spina bifida between 26 0/7 and 27 6/7 gestational weeks and postnatal cerebrospinal fluid diversion.

The journal of maternal-fetal &amp; neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians
2025

Giant Frontoethmoidal Encephalocele in an Infant: A Case Report.

Cureus
2025

Prenatal predictors of ventriculoperitoneal shunt requirement and adverse perinatal outcomes in newborns with open spina bifida.

International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and Obstetrics
2025

Implementation of in utero laparotomy-assisted fetoscopic spina bifida repair in two centers in Latin America: rationale for this approach in this region.

AJOG global reports
2025

The potential impact of intraoperative neurophysiological monitoring on neurological function outcomes after postnatal spina bifida repair.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2025

Gestational age at birth varies by surgical technique in prenatal open spina bifida repair: a systematic review and meta-analysis.

American journal of obstetrics and gynecology
2025

Late Prenatal Development of Hindbrain Herniation in Open Spina Bifida.

Fetal diagnosis and therapy
2025

A CRISPR mis-insertion in the Zic3 5'UTR inhibits in vivo translation and is predicted to result in formation of an mRNA stem-loop hairpin.

Biology open
2025

Biodegradation study in FBS media of polycaprolactone patch as a potential prenatal treatment for myelomeningocele.

Journal of biomaterials applications
2024

Prevalence and Types of Congenital Anomalies in Singleton Pregnancies at a Tertiary Care Hospital.

Cureus
2025

Neurodevelopmental Outcomes after Fetoscopic Myelomeningocele Repair.

The Journal of pediatrics
2024

Iniencephaly: A Challenging Prenatal Diagnosis of a Neural Tube Defect.

Cureus
2025

Reassessing the Inclusion of Race in Prenatal Screening for Open Neural Tube Defects.

JAMA pediatrics
2025

Detailed analysis of cystic lesions in patients after open fetal repair and postnatal myelomeningocele closure.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2025

Satisfaction With Multidisciplinary Team Structure and Function in a Pediatric Outpatient Clinic.

Journal of pediatric surgery
2025

Altered placental phenotype and increased risk of placental pathology in fetal spina bifida: A matched case-control study.

Placenta
2025

Assessment of Women's Discretionary Salt Intake and Household Salt Utilization in Preparation for a Salt Fortification Trial in Oromia Region, Ethiopia.

Maternal &amp; child nutrition
2024

Integrative computational analyses implicate regulatory genomic elements contributing to spina bifida.

Genetics in medicine open
2025

Operative technique: Endoscopic transnasal surgery for congenital meningoencephalocele of the anterior skull base.

American journal of otolaryngology
2025

The Intrauterine Treatment of Open Spinal Dysraphism.

Deutsches Arzteblatt international
2025

Comprehensive assessment of supratentorial and infratentorial volumes in infants with myelomeningocele with and without Chiari malformation type II.

Neuroradiology
2025

Myelomeningocele repair in Latin America: a systematic review.

Journal of neurosurgery. Pediatrics
2024

Arnold-Chiari Malformations in Pediatric Patients After Fetal Surgery for Meningomyelocele.

Journal of clinical medicine
2024

Exposure to drinking water pollutants and non-syndromic birth defects: a systematic review and meta-analysis synthesis.

BMJ open
2024

Two-stage surgical intervention for a rare case of intersected nasoethmoidal encephalocele and open-lip schizencephaly in an infant: illustrative case.

Journal of neurosurgery. Case lessons
2024

Protocol for a community-based, household-randomised, dose-response trial to assess the acceptability, nutritional effects and safety of double-fortified salt containing iodine and folic acid compared with iodised salt among non-pregnant Ethiopian women of reproductive age (DFS-IoFA).

BMJ open
2024

Emergence of planar cell polarity from the interplay of local interactions and global gradients.

eLife
2024

Maternal factors for neural tube defects in offspring: An umbrella review.

Open medicine (Warsaw, Poland)
2024

Contemporary Outcomes of a National Fetal Spina Bifida Surgery Service.

Prenatal diagnosis
2024

Prenatal Surgery for Open Fetal Spina Bifida in Patients with Obesity: A Review of Current Evidence and Future Directions.

Journal of clinical medicine
2024

Clean intermittent catheterisation determinants and caregiver adherence in paediatric patients with spinal dysraphism and spinal cord injury in a paediatric spinal differences clinic: a mixed methods study protocol.

BMJ open
2024

Exploration of epileptic networks in temporal lobe encephaloceles with stereotactic EEG: Electroclinical characteristics and surgical outcomes.

Epilepsia open
2024

Beyond the Screen-Positive Rate: Racial Equity Considerations for Serum Screening for Open Neural Tube Defects.

Clinical chemistry
2024

Antenatally diagnosed myelomeningocele with associated chiari ii malformation in the third trimester. A case report.

Radiology case reports
2024

Imaging of a subcutaneous abscessation in the back of a calf with hindlimb paralysis.

Open veterinary journal
2024

Use of 'stacked' dermal template: Biodegradable temporising matrix to close a large myelomeningocele defect in a newborn.

Scars, burns &amp; healing
2024

The effect of using synthetic vs. biological dural substitutes during prenatal and postnatal repair of spina bifida on spinal cord tethering-a review of literature.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2024

When all that should close remains open: a tale of gastroschisis, exstrophy of bladder, spina bifida and limb defects.

BMJ case reports
2025

Prenatal Neurosurgical Counseling for Myelomeningocele and Treatment-Determining Factors for Fetal Repair.

Fetal diagnosis and therapy
2024

The role of a dedicated transition process from pediatric to adult interdisciplinary care for persons with spina bifida.

Neurosurgical focus
2024

Navigating the transition: the crucial shift from pediatric to adult care for individuals living with spina bifida.

Neurosurgical focus
2024

First-trimester ultrasound of the cerebral lateral ventricles in fetuses with open spina bifida: a retrospective cohort study.

American journal of obstetrics &amp; gynecology MFM
2024

Chorioamniotic Membrane Separation after Fetal Spina Bifida Repair: Impact of CMS Size and Patient Management.

Fetal diagnosis and therapy
2024

Periconceptional maternal supplement intake and human embryonic growth, development, and birth outcomes: the Rotterdam Periconception Cohort.

Human reproduction (Oxford, England)
2024

Recurrent tethered cord: outcome and follow-up of 20 de-thetering for symptomatic spina bifida: choort study.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2024

Usability testing of the Set Brave Goals app, a continence goal-selection app for children with spina bifida.

Journal of pediatric urology
2024

Use of Maternal Race and Weight Provides Equitable Performance in Serum Screening for Open Neural Tube Defects.

Clinical chemistry
2024

Imaging Fetal Spine Malformations in the Context of In Utero Surgery.

Magnetic resonance imaging clinics of North America
2024

Effect of aripiprazole on neural tube development in early chick embryos.

Toxicology and applied pharmacology
2024

Proposal for standardized prenatal assessment of fetal open dysraphisms by the European reference network for Intellectual disability, TeleHealth, Autism and Congenital Anomalies (ITHACA) and eUROGEN.

Prenatal diagnosis
2024

Thoracolumbar myelocele repair: how I do it.

Acta neurochirurgica
2024

Fetal bradycardia in open versus fetoscopic prenatal repair of spina bifida.

Prenatal diagnosis
2024

Craniorachischisis in a 33-week-old Female Fetus: A Case Report.

Acta medica Philippina
2024

Determinants of neural tube defect among newborns admitted to neonatal intensive care units of teaching hospitals in Gedeo Zone and Sidama Region, Southern Ethiopia: a case-control study.

BMJ paediatrics open
2024

Primary acalvaria with open-lip schizencephaly in indigenous South Papuan surviving newborn: a rare case report.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2024

Clinical Features and Therapeutic Process of Sacral Fatigue Fractures in Adolescents.

The American journal of sports medicine
2024

Getting to the bottom of why children with spina bifida use the emergency department: A qualitative analysis of parent and stakeholder perspectives.

Journal of pediatric urology
2024

A comparative analysis of neuroendoscopic foramen magnum decompression versus traditional open surgery for Chiari Malformation Type I.

European spine journal : official publication of the European Spine Society, the European Spinal Deformity Society, and the European Section of the Cervical Spine Research Society
2024

Enhanced recovery after fetal spina bifida surgery: global practice.

Ultrasound in obstetrics &amp; gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology
2024

Prevalence of neural tube defect and its identification during antenatal period: a cross-sectional study in eastern Indian state.

BMJ open
2024

Robust tracking of deformable anatomical structures with severe occlusions using deformable geometrical primitives.

Computer methods and programs in biomedicine
2024

Myelomeningocele: Long-Term Neurosurgical Management.

Advances and technical standards in neurosurgery
2024

The impact of a biocellulose-based repair of fetal open spina bifida on the need to untether the cord: is it time to unify techniques for prenatal repair?

Einstein (Sao Paulo, Brazil)
2024

Single-Stage Endoscopic Repair of Pediatric Basal Encephalocele: A Comprehensive Multimedia Case Report.

Operative neurosurgery (Hagerstown, Md.)
2024

Periventricular nodular heterotopia in patients with a prenatal diagnosis of myelomeningocele/myeloschisis: associations with seizures and neurodevelopmental outcomes during early childhood.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2024

Evaluation of multidisciplinary high-risk pregnancy clinic for myelomeningocele.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2024

Immunohistochemical and Histopathological Characterization of Spina Bifida Defect Tissues Removed After Prenatal and Postnatal Surgical Repair.

Fetal and pediatric pathology
2024

DTYMK is an essential gene in mice and heterozygosity does not cause neural tube defects.

Archives of biochemistry and biophysics
2024

Flap Closure in Neonatal Neural Tube Defects: Challenges in Flap Design and Lessons Learnt.

Journal of Indian Association of Pediatric Surgeons
2025

[The world is turned upside down: How parents of children with spina bifida experience transition. A qualitative study].

Pflege
2024

Deep postnatal phenotyping of a new mouse model of nonketotic hyperglycinemia.

bioRxiv : the preprint server for biology
2024

A qualitative analysis of patient and caregiver experiences with myelomeningocele through online discussion boards.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2024

Pain Scores after Open Fetal Spina Bifida Repair and Caesarean Section: A Longitudinal Cohort Study.

Fetal diagnosis and therapy
2024

Open abdominal wall defects and open spina bifida at a regional hospital in northern KwaZulu-Natal - bellwether conditions for neonatal surgery capacity.

South African journal of surgery. Suid-Afrikaanse tydskrif vir chirurgie
2024

Awareness of Periconceptional Folic Acid in Parents of Children Affected by Spina Bifida - A Pilot Study.

African journal of paediatric surgery : AJPS
2024

Prognostic Significance of Central Skull Base Remodeling in Chiari II Malformation.

AJNR. American journal of neuroradiology
2024

Nursing management of patients dealing with spina bifida: from the prenatal diagnosis to adulthood / nursing intervention for the improvement of the impact of urinary and fecal incontinence on the quality of life of people dealing with spina bifida.

Italian journal of pediatrics
2025

Differences between Myeloschisis and Myelomeningocele in Patients Undergoing Prenatal Repair of Open Spina Bifida.

Fetal diagnosis and therapy
2024

Folic Acid-Fortified Iodized Salt and Serum Folate Levels in Reproductive-Aged Women of Rural India: A Nonrandomized Controlled Trial.

JAMA network open
2024

Association of spinal cord abnormalities with vertebral anomalies: an embryological perspective.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2024

In utero Diagnosis of Spinal Dermal Sinus.

Fetal diagnosis and therapy
2024

Pharmacoeconomic Evaluation of Costs of Myelomeningocele and Meningocele Treatment and Screening.

ClinicoEconomics and outcomes research : CEOR
2024

Double Myelomeningocele Repair by Fetal Surgery with a Single Micro-Hysterotomy.

Pediatric neurosurgery
2024

Enhanced Recovery after Surgery in Open Fetal Spina Bifida Repair.

Fetal diagnosis and therapy
2023

The Aperta type of neural tube defect: The relevant experience in a local community with the diversity of the presentation.

Journal of medicine and life
2024

Grainyhead-like 2 interacts with noggin to regulate tissue fusion in mouse.

Development (Cambridge, England)
2024

Ambulation after in-utero fetoscopic or open neural tube defect repair: predictors for ambulation at 30 months.

Ultrasound in obstetrics &amp; gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology
2024

High-fidelity, low-cost synthetic training model for fetoscopic spina bifida repair.

American journal of obstetrics &amp; gynecology MFM
2024

Fetal surgery for open neural tube defect with severe ventriculomegaly.

Ultrasound in obstetrics &amp; gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology
2023

Fetal surgery for occipital encephalocele: A case report.

Surgical neurology international
2024

Fetal cardiovascular changes during open and fetoscopic in-utero spina bifida closure.

Ultrasound in obstetrics &amp; gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology
2024

Fetal Spina Bifida Repair in Obese Mothers: Is Maternal and Fetal Safety Compromised?

Fetal diagnosis and therapy
2023

From prenatal care to spina bifida related mortality: The lifespan is marked by transitions experienced by increasing immigrant and international populations.

Journal of pediatric rehabilitation medicine
2023

Motor function outcomes in children with open prenatal repair of Spina Bifida Aperta at 36-month follow-up: The Zurich cohort.

Journal of pediatric rehabilitation medicine
2024

Low-dose daily folic acid (400 μg) supplementation does not affect regulation of folate transporters found present throughout the terminal ileum and colon of humans: a randomized clinical trial.

The American journal of clinical nutrition
2024

'Choroid bar': easy-to-seek marker of normal posterior fossa at 12-14 weeks' gestation.

Ultrasound in obstetrics &amp; gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology
2024

Improving motor function in fetal surgery for open spina bifida.

BJOG : an international journal of obstetrics and gynaecology
2023

Surgical treatment outcome of children with neural-tube defect: A prospective cohort study in a high volume center in Addis Ababa, Ethiopia.

Brain &amp; spine
2024

Thalamic connectivity topography in newborns with spina bifida: association with neurological functional level but not developmental outcome at 2 years.

Cerebral cortex (New York, N.Y. : 1991)
2024

Longitudinal MRI in the context of in utero surgery for open spina bifida: A descriptive study.

Acta obstetricia et gynecologica Scandinavica
2023

Simple prenatal imaging predictors for postnatal cerebrospinal fluid diversion surgery in fetuses undergoing in utero surgery for spina bifida.

Prenatal diagnosis
2024

Revisiting MOMS criteria for prenatal repair of spina bifida: upper gestational-age limit should be raised and assessment of prenatal motor function rather than anatomical level improves prediction of postnatal function.

Ultrasound in obstetrics &amp; gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology
2024

Intrauterine Correction of Fetal Myelomeningocele Through Minihysterotomy.

World neurosurgery
2024

A retrospective review of the association between maternal body mass index and the risk of congenital anomalies.

Congenital anomalies
2024

Development of a double-layer electrospun patch as a potential prenatal treatment for myelomeningocele.

Wound repair and regeneration : official publication of the Wound Healing Society [and] the European Tissue Repair Society
2023

Birth prevalence and risk factors of neural tube defects in Ethiopia: a systematic review and meta-analysis.

BMJ open
2024

Chiari type III malformation associated with Klippel-Feil syndrome, a case report with a narrative review of the literature.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2024

Plasma GDNF levels in spinal dysraphism and its relation with neurological impairment in children: A point of care study.

Journal of pediatric urology
2024

Prenatal imaging of the normal and abnormal spinal cord: recommendations from the Fetal Task Force of the European Society of Paediatric Radiology (ESPR) and the European Society of Neuroradiology (ESNR) Pediatric Neuroradiology Committee.

Pediatric radiology
2023

The autotaxin-LPA axis promotes membrane trafficking and secretion in yolk sac visceral endoderm cells.

Biology open
2023

Strengthening the Evidence: Similar Rates of Neural Tube Defects Among Deliveries Regardless of Maternal HIV Status and Dolutegravir Exposure in Hospital Birth Surveillance in Eswatini.

Open forum infectious diseases
2023

Open spina bifida characterisation in a dog foetus.

Veterinary medicine and science
2024

Perforation of cavum septi pellucidi in open spina bifida and need for hydrocephalus treatment by 1 year of age.

Ultrasound in obstetrics &amp; gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology
2023

A New Surgical Paradigm for Postnatal Repair of Open Neural Tube Defects Using Intraoperative Neurophysiology Monitoring.

Advances and technical standards in neurosurgery
2023

Fetal Surgery for Myelomeningocele: Neurosurgical Perspectives.

Advances and technical standards in neurosurgery
2023

The loop-tail mouse model displays open and closed caudal neural tube defects.

Disease models &amp; mechanisms
2023

An Endoscopic Endonasal Attempt at Pediatric Meningoencephalocele Repair.

Ear, nose, &amp; throat journal
2024

A novel classification and management scheme for craniocervical junction disorders with ventral neural element compression.

Journal of neurosurgery
2023

Vitamin D Supplementation and Vitamin D Status during Pregnancy and the Risk of Congenital Anomalies-A Systematic Review and Meta-Analysis.

Nutrients

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Referências e fontes

Bases de dados externas citadas neste artigo

Publicações científicas

Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.

  1. Sleep-Disordered Breathing in Newborns After Myelomeningocele Repair.
    Pediatrics· 2026· PMID 41570998mais citado
  2. Prevalence of major structural congenital abnormalities detected on infant surface examination in Botswana, 2014-2022: a birth outcomes surveillance study.
    BMJ paediatrics open· 2026· PMID 41490893mais citado
  3. Knowledge of the Importance of Folic Acid Among Women of Childbearing Age in the United Arab Emirates: A Cross-Sectional Study.
    Cureus· 2026· PMID 41873291mais citado
  4. Chiari II brain malformation is secondary to open spina bifida.
    Disease models &amp; mechanisms· 2026· PMID 41848169mais citado
  5. Advances in the prevention and prenatal treatment of spina bifida.
    Discoveries (Craiova, Romania)· 2026· PMID 41799374mais citado
  6. [Prenatal repair of open spina bifida: history, present, and future].
    Andes Pediatr· 2025· PMID 41842782recente
  7. Open Fetal Versus Postnatal Repair of Spina Bifida Aperta-A Comparison of Neonatal Outcomes.
    Prenat Diagn· 2026· PMID 41673379recente
  8. Association between fetal brain diffusion-weighted imaging and postnatal neurodevelopmental outcome after prenatal myelomeningocele repair.
    Ultrasound Obstet Gynecol· 2026· PMID 41581239recente
  9. Development of a Deep Learning Algorithm for Posterior Fossa Abnormality Recognition on First-Trimester US Screening Scans: AIRFRAME Study Part 1.
    Radiol Artif Intell· 2026· PMID 41563074recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:268363(Orphanet)
  2. MONDO:0017060(MONDO)
  3. GARD:20949(GARD (NIH))
  4. Busca completa no PubMed(PubMed)
  5. Q55786770(Wikidata)

Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.

Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar

Iniencefalia aberta
Compêndio · Raras BR

Iniencefalia aberta

ORPHA:268363 · MONDO:0017060
Prevalência
Unknown
Herança
Multigenic/multifactorial, Not applicable
CID-10
Q00.2 · Iniencefalia
CID-11
Início
Infancy, Neonatal
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C0431285
Wikidata
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