Neural tube defect, folate-sensitive

A group of birth defects of the brain, spine, or spinal cord that occur due to folate deficiency

Neural tube defect, folate-sensitive
Diagram showing types of neural tube defects
Synonyms	N/A
Pronounce	N/A
Specialty	N/A
Symptoms	Birth defects of the brain, spine, or spinal cord
Complications	Physical disabilities, developmental delays
Onset	During embryonic development
Duration	N/A
Types	N/A
Causes	Folate deficiency, genetic factors
Risks	Low folate intake, certain medications, diabetes, obesity
Diagnosis	N/A
Differential diagnosis	N/A
Prevention	Folate supplementation
Treatment	Surgical intervention, supportive care
Medication	N/A
Prognosis	N/A
Frequency	1 in 1,000 births
Deaths	N/A

Neural tube defects (NTDs) are serious birth defects of the brain, spine, or spinal cord that occur during embryonic development. These defects are often classified as folate-sensitive, meaning that adequate intake of folic acid (vitamin B9) before and during early pregnancy can significantly reduce their incidence.

Types of Neural Tube Defects

Neural tube defects can be broadly categorized into two main types:

• Spina bifida: A condition where the spinal column does not close completely, leading to potential damage to the spinal cord and nerves. It can range from mild to severe.
• Anencephaly: A severe condition where major parts of the brain and skull do not form. Infants with anencephaly are usually stillborn or die shortly after birth.

Causes

The exact cause of neural tube defects is not fully understood, but it is believed to be a combination of genetic, nutritional, and environmental factors. Folate deficiency is a well-established risk factor. Other potential causes include:

• Genetic mutations
• Maternal diabetes
• Obesity
• Use of certain anti-seizure medications

Prevention

Folate supplementation is the most effective preventive measure against folate-sensitive neural tube defects. Women of childbearing age are advised to take 400 micrograms of folic acid daily, starting at least one month before conception and continuing through the first trimester of pregnancy.

Diagnosis

Neural tube defects can be diagnosed prenatally through:

• Ultrasound imaging
• Maternal blood tests measuring alpha-fetoprotein (AFP)
• Amniocentesis

Treatment

Treatment for neural tube defects depends on the severity and type of defect. Options include:

• Surgical intervention to close the defect and prevent further damage
• Supportive therapies such as physical therapy and occupational therapy
• Management of complications such as hydrocephalus

Prognosis

The prognosis for individuals with neural tube defects varies widely. Some may lead relatively normal lives with minimal intervention, while others may experience significant physical and cognitive challenges.

Also see

• Folic acid
• Prenatal care
• Congenital disorder
• Genetic counseling