MYELOMENINGOCELE

SYMPTOMS

MMC is one of the most prevalent birth defects, but its consequences may range from mild to severe, including abnormal spinal cord and nerve function.

Included among the symptoms and consequences of MMC are:

• Incontinence or a lack of or absence of control over the bladder and bowels.
• Improper spinal nerve function characterized by a loss of feeling in the legs and feet.
• The absence of cerebrospinal fluid, which protects the spinal cord and brain.
• Abnormal function of the spinal cord
• Potential cognitive development, including delayed developmental milestones or learning discrepancies
• Chiari II malformation: A disorder that impairs the development of the brain’s back.
• Walking difficulty or inability
• Abnormal foot and leg development, such as clubfoot
• Hydrocephalus, also known as “water in the brain,” is a disorder where there is an excess of cerebrospinal fluid in the brain.

DIAGNOSIS

Using the following tests, healthcare practitioners may typically (but not always) identify and diagnose fetal myelomeningocele during pregnancy.

Fetal (prenatal) ultrasound: This is the most precise method of detecting myelomeningocele during pregnancy. Ultrasounds are routinely advised by healthcare providers throughout the first and second trimesters of pregnancy.

Amniocentesis: A needle is utilized to collect a fluid sample from the amniotic sac around your unborn child.This is done if the fetal ultrasound verifies the diagnosis of myelomeningocele.

Blood test: During the 16th to 18th week of pregnancy, your physician will conduct a screening assessment to determine the level of alpha-fetoprotein (AFP) in your blood.

If myelomeningocele was not discovered during pregnancy, healthcare practitioners may utilize imaging tests after delivery to identify it, such as a CT (computed tomography) scan or an MRI (magnetic resonance imaging).

TREATMENT

Myelomeningocele is often treated with surgery to close the hole in your baby’s spine. Healthcare practitioners may conduct fetal surgery (before birth) or postnatal surgery (after birth). Hydrocephalus is common in babies with myelomeningocele (fluid buildup in their brain). Your infant may need a ventriculoperitoneal (VP) shunt to remove excess fluid from their brain. Most youngsters will need lifetime therapy to manage difficulties caused by spinal cord and nerve injury.