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Myelomeningocele

What's new

The European Association of Urology (EAU), in collaboration with other European and international organizations, has released a new guideline on spinal dysraphism in children and adolescents. Urodynamic studies are recommended in all patients to assess upper urinary tract risk and evaluate detrusor and sphincter function. Intermittent catheterization should begin soon after birth in all newborns, unless there is clearly an underactive sphincter without detrusor overactivity, in which case it can be delayed. Long-term renal function monitoring is recommended for all patients. Early anticholinergic treatment is recommended for newborns with suspected detrusor overactivity. OnabotulinumtoxinA injection (suburothelial or intradetrusoral) is an option for refractory cases. Ileal or colonic bladder augmentation is recommended for treatment-resistant detrusor overactivity. Only symptomatic urinary tract infections should be treated in patients with neurogenic bladder. .

Guidelines

Key sources

The following summarized guidelines for the evaluation and management of myelomeningocele are prepared by our editorial team based on guidelines from the European Reference Network for Rare Malformation Syndromes, Intellectual and Other Neurodevelopmental Disorders (ERN ITHACA/EAU/ERN eUROGEN/ESPU/ERN ERKNet/IFSBH 2025), the U.S. Preventive Services Task Force (USPSTF 2023), the Society of Obstetricians and Gynaecologists of Canada (SOGC 2021), the Congress of ...
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Screening and diagnosis

Indications for screening: as per SOGC 2021 guidelines, obtain second-trimester anatomical ultrasound with detailed fetal intracranial and spinal imaging as the primary screening technology to detect fetal structural abnormalities including open and closed neural tube defects (anencephaly, encephalocele, myelomeningocele, and other spina bifida malformations).
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Diagnostic investigations

Diagnostic imaging: as per SOGC 2021 guidelines, consider obtaining prenatal MRI if further detailed assessment of the fetal CNS is required for diagnostic or management counseling.
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  • Urodynamic studies

Diagnostic procedures

Amniocentesis
As per SOGC 2021 guidelines:
Evaluate the amniotic fluid specimen for fetal genetic abnormalities, if a diagnostic amniocentesis is performed, following ultrasound detection of fetal anomalies including confirmed or suspected open or closed neural tube defects. Obtain chromosomal microarray and other genetic testing, as considered appropriate after assessment of fetal anomalies and family history, during evaluation with amniotic fluid α-fetoprotein and amniotic fluid acetylcholinesterase, if required by protocols for fetal surgery decisions.
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Consider obtaining fetal exome sequencing in fetuses with myelomeningocele or other spina bifida anomalies, only after multidisciplinary counseling and after appropriate criteria for molecular genetic sequencing are met.
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  • Autopsy

Medical management

Setting of care: as per SOGC 2021 guidelines, refer patients with positive screening results on imaging for an open or closed neural tube defect (ultrasound with or without maternal serum α-fetoprotein) to experienced providers for confirmation, genetic/etiologic investigation and diagnosis, and pregnancy management counseling.
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  • Antibiotic prophylaxis for ventriculitis

  • Management of overactive detrusor

  • Management of bowel emptying

  • Management of UTIs

Nonpharmacologic interventions

Psychosocial support: as per EAU/ERN ERKNet/ERN eUROGEN/…/IFSBH 2025 guidelines, obtain screening for psychological symptoms and disorders using validated, comprehensive behavioral questionnaires at school entry or when clinically indicated.
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Therapeutic procedures

Management of delivery
As per SOGC 2021 guidelines:
Consider offering either Cesarean or vaginal delivery for fetuses with myelomeningocele in a vertex presentation. Individualize intrapartum care based on head size, myelomeningocele lesion size, lower limb position, and mobility considerations.
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Perform a pre-labor Cesarean delivery at 37 weeks at the latest to prevent possible rupture of the hysterotomy scar during labor if prenatal myelomeningocele surgical repair is conducted.
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  • Urinary catheterization

Surgical interventions

General principles: as per SOGC 2021 guidelines, offer a choice of 3 obstetrical care management options in families with an isolated open/closed neural tube defect after diagnostic and genetic testing:
prenatal surgical repair of myelomeningocele and prognosis
postnatal surgical repair of myelomeningocele and prognosis
pregnancy termination with autopsy.
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  • Prenatal surgical closure

Preventative measures

Periconceptional folic acid supplementation: as per USPSTF 2023 guidelines, offer folic acid supplementation of 400-800 mcg/day in all individuals planning to or who could become pregnant, to prevent fetal neural tube defects.
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Follow-up and surveillance

Long-term follow-up: as per EAU/ERN ERKNet/ERN eUROGEN/…/IFSBH 2025 guidelines, obtain life-long follow-up of renal function in all patients with spinal dysraphisms.
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  • Subsequent pregnancy planning