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Neural Tube Birth Defect: Encephalocele

By HERWriter
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What is Encephalocele?

Encephalocele (en – sef – a – lo – seal) is a rare neural tube defect (NTD) that occurs when the bones of the skull do not completely close and leave a hole. Brain tissues, spinal fluid, and membrane (meninges) squeeze through this hole.

Encephalocele presents as either a “groove down the middle of the skull, between the forehead and the nose, or on the back of the skull.” (3)

According to the Centers for Disease Control, 1 in every 10,000 live births in the United States have encephalocele. The March of Dimes estimates that NTDs affect 3,000 pregnancies each year.

How does encephalocele affect my baby?

According to Children’s Hospital of Wisconsin only half of unborn babies with encephalocele actually survive to birth. This defect occurs more in girls than boys, though researchers don’t know why yet.

Most encephaloceles are diagnosed on routine ultrasound.

See what encephalocele looks like on the back of the skull. For ultrasound and x-ray pictures go here.

If the defect is covered by skin, alpha-fetoprotein levels will come back normal on amniocentesis, although the amniocentesis will be able to detect if there are any chromosomal abnormalities.

A mom-to-be will likely be referred to a perinatologist, a specialist in the high-risk births, and scheduled for a fetal MRI to better assess the extent of the defect. If the encephalocele is too large, delivery by cesarean section may be recommended.

Children’s Hospital of Wisconsin says that 100 percent of babies born with a frontal encephalocele survive, while only 55 percent survive encephalocele in the back.

Treatment and Prevention of Encephalocele

Treatment usually involves surgery to place the brain tissue and fluid back inside the skull and to close the defect in the bone, usually before 4 months of age. (2)

However, if there is no skin covering the defect then the surgery is performed immediately after birth.

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We value and respect our HERWriters' experiences, but everyone is different. Many of our writers are speaking from personal experience, and what's worked for them may not work for you. Their articles are not a substitute for medical advice, although we hope you can gain knowledge from their insight.