Neural tube defects (NTDs) are the most common congenital malformations of the central nervous system (CNS). They develop between the 3rd and 4th week of pregnancy and are often caused by folate deficiency. Most commonly, a deficiency in folate results in improper closure of the neural tube in the embryo, mainly at the caudal or cranial ends. The formation of defects at the caudal end is more common and is known as spina bifida. Spina bifida may occur without any apparent clinical features (spina bifida occulta) or manifest with protrusion of the meninges and, potentially, the spinal cord (myelomeningocele) through a gap in the vertebrae. Myelomeningoceles predominantly cause symptoms of sensory and motor function loss, such as bladder dysfunction and paraplegia. NTDs at the cranial end can cause cranial fissure malformations; the most severe manifestation of this, anencephaly, is incompatible with life. The diagnosis of NTDs is often established during pregnancy via ultrasound and detection of elevated alpha-fetoprotein levels in the maternal serum or amniotic fluid. Treatment involves prophylactic administration of antibiotics and rapid surgical closure of the defect to avoid CNS infections. Supplementation with folate is an important preventative measure and should ideally be initiated 4 weeks prior to conception.
- Neural tube defects (NTDs) are congenital malformations of the central nervous system (CNS), spine, and cranium.
NTDs are caused by incomplete closure of the neural tube during neurulation, which takes place during the 3rd and 4th week after conception.
- Cranial defects: incomplete closure of anterior neuropores → cranial cleft formation (mostly open defects) with involvement of the skull and brain
- Spinal defects: incomplete closure of posterior neuropores → bone defects of the vertebral arches (mostly lower lumbar or sacral region ) → possible herniation of spinal neural tissue and meninges
- NTDs can be classified according to affected structure and degree to which the defect is covered by tissue.
Most NTDs are isolated malformations with multifactorial etiology.
Maternal risk factors
- Folate deficiency during pregnancy ; due to:
- Pregestational diabetes mellitus
- Fever/hyperthermia during the first trimester
- Fetal causes
|Spinal defects (subtypes of spina bifida) |
|Condition||Description||Clinical features|| |
|Closed spinal dysraphism|
|Spina bifida occulta|| |
|Open spinal dysraphism|
|Meningocele|| || |
|Myeloschisis (rachischisis)|| |
|Myelocele|| || |
|Cranial defects |
|Anencephaly|| || |
|Encephalocele|| || |
|Acrania|| || |
Prenatal period 
- Screening test (16–18 weeks' gestation): ↑ AFP in maternal serum (MSAFP)
Ultrasonography (18–20 week's gestation)
- Characteristic findings depend on the specific defect
- Screen for malformations of other structures (e.g., abdominal wall defects)
- Rule out other causes of elevated MSAFP (e.g., miscalculated gestational age, multiple gestations, fetal death)
- Amniocentesis: ↑ AFP and ↑ AChE in amniotic fluid (increase in open NTDs only)
AFP is only elevated in open NTDs.
Postnatal period 
- Complete physical examination
Tethered cord syndrome 
- Definition: a functional neurologic disorder caused by abnormal stretching of the spinal cord as a result of adhesions or obstructions attaching the caudal spinal cord to the spinal canal
- Lower back pain (aggravated by flexion of lower spine)
- Sensory and motor deficits of the lower limbs (e.g., muscle weakness, spasticity, abnormal reflexes)
- Bladder/bowel dysfunction
- Skeletal malformations (e.g., foot deformities, scoliosis)
- Visible tumors or skin lesions on lower back (e.g., discoloration, hairy patch, dimple, lipoma)
- Diagnostics: MRI may show abnormally low position of the conus medullaris, thickening of the filum terminale, meningeal adhesions, lipomas, dermoid, cysts, or tumors.
- Treatment: removal of structure tethering the spinal cord (e.g., adhesiolysis, resection of lipoma)
Congenital dermal sinus
- Definition: : mostly lumbar or lumbosacral fistulae that extend from the surface of the skin to the spinal canal and frequently end in a dermoid or epidermoid cyst
- Etiology: incomplete or lack of separation of the neural ectoderm from the dermal ectoderm
- Clinical features
- Treatment: neurosurgical exploration and potential resection of the dermoid or epidermoid cysts
The differential diagnoses listed here are not exhaustive.
- General management
- Cover defect with sterile, wet compresses (avoid pressure on defect)
- Prophylactic administration of broad-spectrum antibiotics
- Surgical treatment
- Long-term care
- General management
Folate supplementation in pregnancy: according to the US Preventive Services Task Force 
- 400–800 μg/day for all women planning or capable of pregnancy (at least 4 weeks prior to conception)
- Women with a history of a previous pregnancy resulting in an NTD
- Intake should be continued through the first trimester.