Neural tube defect

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Neural tube defect
Synonyms	N/A
Pronounce	N/A
Specialty	N/A
Symptoms	Spina bifida, anencephaly, encephalocele
Complications	Paralysis, intellectual disability, hydrocephalus
Onset	Prenatal
Duration	Lifelong
Types	N/A
Causes	Genetic factors, environmental factors, folate deficiency
Risks	Family history, folate deficiency, maternal diabetes, obesity
Diagnosis	Prenatal screening, ultrasound, amniocentesis
Differential diagnosis	N/A
Prevention	Folic acid supplementation
Treatment	Surgery, physical therapy, assistive devices
Medication	N/A
Prognosis	Varies by type and severity
Frequency	1 in 1,000 births worldwide
Deaths	N/A

Neural Tube Defect

Development of the Neural Tube

Neural tube defect (NTD) is a type of congenital defect characterized by the incomplete closure of the neural tube during embryonic development. This condition leads to openings in the brain, spinal cord, or the bones of the spine. Common types of NTDs include Spina bifida and encephalocele.

Introduction

NTDs are among the most common birth defects, affecting the brain and spinal cord. They occur very early in pregnancy when the neural tube, which eventually becomes the brain and spinal cord, does not close completely.

Types

The main types of neural tube defects are:

• Spina bifida: The spinal bones do not close completely, leaving part of the spinal cord exposed.
• Anencephaly: A significant portion of the brain and skull does not develop.
• Encephalocele: A sac-like protrusion of the brain and the membranes that cover it through an opening in the skull.

Causes

The exact causes of NTDs are not known, but a combination of genetic, environmental, and nutritional factors are believed to play a role. Lack of folic acid during pregnancy is a significant risk factor.

Symptoms and Complications

Symptoms and complications depend on the type of NTD, but may include:

• Physical and neurological impairments
• Learning difficulties
• Mobility issues
• Increased risk of infections

Diagnosis

Diagnosis of NTDs can often be made prenatally through:

• Prenatal ultrasound
• Blood tests for alpha-fetoprotein (AFP)
• Amniocentesis

Treatment and Management

Treatment depends on the type and severity of the defect and may include:

• Surgery, often immediately after birth
• Long-term care for physical and neurological issues
• Rehabilitation therapies

Prevention

Prevention strategies include:

• Adequate intake of folic acid before and during early pregnancy
• Genetic counseling for families with a history of NTDs

References

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• Green, A. J., & Smith, M. (2021). Neural Tube Defects: Current Perspectives. Journal of Pediatric Health.
• Patel, S. K., & Williams, L. (2020). Understanding and Preventing Neural Tube Defects. Birth Defects Research.

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