Symptoms
Symptoms of NTDs vary depending on the type and severity of the defect.
Spina Bifida: This can range from no visible symptoms (spina bifida occulta) to a visible sac of fluid on the back (myelomeningocele). Symptoms may include leg weakness or paralysis, bowel and bladder control problems, hydrocephalus (fluid on the brain), and learning disabilities.
Anencephaly: This is a severe defect where the brain and skull do not develop properly. Babies with anencephaly are usually stillborn or die shortly after birth.
Encephalocele: A sac-like protrusion of the brain through an opening in the skull. The symptoms vary based on the location and size of the encephalocele, but may include intellectual disability, vision problems, developmental delay, and seizures.
Causes
The exact cause of NTDs is not fully understood, but several factors are known to increase the risk. These include:
Folic Acid Deficiency: Insufficient folic acid intake before and during early pregnancy is a major risk factor.
Family History: Having a family history of NTDs increases the risk.
Certain Medications: Some medications taken during pregnancy, such as certain anti-seizure drugs, can increase the risk.
Maternal Health Conditions: Conditions like diabetes and obesity in the mother can increase the risk.
Exposure to High Temperatures: Elevated body temperature (fever or hot tub use) early in pregnancy may increase risk.
Genetic Factors: Some genetic conditions are associated with an increased risk of NTDs.
Medicine Used
There is no medicine to "cure" an NTD. Medical interventions focus on managing the complications and symptoms.
Spina Bifida: Surgery may be needed to close the opening in the back shortly after birth. Other treatments may include physical therapy, occupational therapy, bowel and bladder management, and shunts to drain fluid from the brain (hydrocephalus).
Anencephaly: This condition is usually fatal and there is no treatment.
Encephalocele: Surgical repair to place the brain tissue back in the skull and close the opening.
Is Communicable
Neural tube defects are not communicable or contagious. They are birth defects, not infectious diseases.
Precautions
The most important precaution is taking folic acid supplements before and during early pregnancy. Other precautions include:
Managing Maternal Health: Women with diabetes or other health conditions should manage their conditions well before and during pregnancy.
Avoiding Certain Medications: Discuss all medications with a doctor before and during pregnancy.
Avoiding High Temperatures: Avoid hot tubs, saunas, and high fevers during early pregnancy.
Genetic Counseling: If there is a family history of NTDs, genetic counseling is recommended.
How long does an outbreak last?
NTDs are not caused by outbreaks. They are birth defects that occur during the first month of pregnancy. The condition is permanent, but the effects and symptoms persist through the individual's life.
How is it diagnosed?
NTDs can be diagnosed during pregnancy or after birth.
Prenatal Screening:
Alpha-fetoprotein (AFP) blood test: This blood test screens for neural tube defects, among other issues.
Ultrasound: Ultrasound can detect some NTDs, especially more severe ones.
Amniocentesis: A sample of amniotic fluid is tested for AFP levels and other markers.
Postnatal Diagnosis:
Physical examination: Visible NTDs like myelomeningocele are diagnosed at birth through physical examination.
Imaging tests: X-rays, CT scans, or MRIs can be used to confirm the diagnosis and assess the extent of the defect.
Timeline of Symptoms
Prenatal: Diagnosis via prenatal screening (AFP test and ultrasound) or amniocentesis.
At Birth: Visible defects like myelomeningocele are apparent immediately.
Infancy/Childhood: Symptoms related to motor skills, bowel/bladder control, cognitive function, and other complications develop and become apparent over time.
Lifelong: The effects of NTDs are lifelong, requiring ongoing management and support.
Important Considerations
Early detection and intervention are crucial to improve outcomes for individuals with NTDs.
Multidisciplinary care involving doctors, therapists, and other specialists is essential.
Lifelong management is required to address the physical, cognitive, and emotional challenges associated with NTDs.
Folic acid supplementation is a critical preventative measure.
Genetic Counseling can provide risk assessment and support for families.