Neurologic Conditions

Open Neural Tube Defect (also known Spina Bifida)

The neural tube is a portion of the developing embryo that becomes the brain and the spinal cord. If the neural tube fails to close properly, the result may be Spina Bifida (technically known as a myelomeningocele). Complications associated with an open neural tube defect are variable, and it is known that they are associated with the size and position of the opening. In general, the higher the defect, the more severe the complications, which can vary from no major complications, paralysis of the lower limbs and incontinence of the bowel and bladder to an inability for a baby to survive. Many individuals with an isolated open spinal defect (depending on the location of the opening along the spine) have normal intelligence. Careful monitoring throughout pregnancy will be important to assess the baby’s development and well-being. An open neural tube defect will need to be surgically repaired shortly after birth.

Hydrocephalus

Hydrocephalus is the result of the accumulation of cerebrospinal fluid in the ventricles, or chambers, in the baby’s brain. If a blockage occurs that blocks the normal flow of cerebrospinal fluid, the ventricles above the blockage will become dilated or enlarged by the fluid that cannot pass the obstruction. This can result is an increased head size to accommodate the excess fluid called hydrocephalus. There are many causes of hydrocephalus such as an underlying chromosome abnormality, genetic syndrome, developmental defect of the fetal brain, fetal infection or hemorrhage. Careful monitoring throughout pregnancy will be important to assess the baby’s development and well-being. Typically treatment for hydrocephalus includes a shunt placement after delivery to relieve the pressure in the baby’s brain.

Holoprosencephaly

Holoprosencephaly is a variable abnormality of the baby’s brain, which is characterized by failure of the two halves of the brain to separate fully during development. There are three types of holoprosencephaly depending on the level of severity. Other brain abnormalities, seizures, and other health concerns can also be present as well. Individuals with holoprosencephaly can also have facial changes including hypotelorism (eyes that are closer together than average), cleft lip and/or cleft palate, etc. Most individuals with holoprosencephaly have some degree of learning problems, which often correlates to the degree of fusion in their brain. Unfortunately, if the brain is severely fused, survival may be unlikely. There are many causes of holoprosencephaly such as an underlying chromosome abnormality, genetic syndrome, developmental defect of the fetal brain, or maternal conditions such as diabetes or drug exposures. Careful monitoring throughout pregnancy will be important to assess the baby’s development and well-being. There is no cure for holoprosencephaly, and treatment relies on alleviating symptoms such as seizures, which may develop.