Anencephaly (patient information)

For the WikiDoc page for this topic, click here



Overview
Anencephaly is a condition that prevents the normal development of the brain and the bones of the skull. This condition results when a structure called the neural tube fails to close during the first few weeks of embryonic development. The neural tube is a layer of cells that ultimately develops into the brain and spinal cord. Because anencephaly is caused by abnormalities of the neural tube, it is classified as a neural tube defect (NTD).

If the neural tube fails to close properly, the developing brain and spinal cord are exposed to the amniotic fluid that surrounds the fetus. This exposure causes the nervous system tissue to break down (degenerate). As a result, people with anencephaly are missing large parts of the brain called the cerebrum and cerebellum. These brain regions are necessary for thinking, hearing, vision, emotion, and coordinating movement. The bones of the skull are also missing or incompletely formed.

What are the symptoms of Anencephaly?
Symptoms of anencephaly may include: Although some individuals with anencephaly may be born with a rudimentary brain stem, the lack of a functioning cerebrum permanently rules out the possibility of ever gaining consciousness. Reflex actions such as breathing and responses to sound or touch may occur.
 * Missing bones, especially in the front/sides of the skull
 * Folded cartilage of the ears
 * Cleft palate
 * Congenital heart disease
 * Absence of the bone that covers the back of the head
 * Blindness
 * Deafness
 * Unconsciousness
 * Inability to feel pain

Who is at highest risk?
The cause of anencephaly is unknown. Although it is thought that a mother's diet and vitamin intake may play a role, scientists                                believe that many other factors are also involved. Most cases of anencephaly are sporadic, which means they occur in people with no history of the disorder in their family. A small percentage of cases have been reported to run in families; however, the condition does not have a clear pattern of inheritance. For parents who have had a child with anencephaly, the risk of having another affected child is increased compared to the risk in the general population.

When to seek urgent medical care?
Genetic counseling is recommended for expectant parents with a history of other genetic disorders that may influence the potential for anencephaly. Miscarriage is common in expectant mothers with an anencephalic fetus, seek immediate medical attention if you believe you are experiencing a miscarriage.

Diagnosis
Diagnostic evaluation of anencephaly may be made at any point during pregnancy or immediately after giving birth. Your baby may appear to have a flattened head and may be missing bones of the skull. Routine diagnostic tests to evaluate and diagnose anencephaly include:
 * Amniocentesis - a test of the amniotic fluid used to determine genetic disorders, certain birth defects and map a baby's chromosomes
 * Ultrasound - high-frequency sound waves via computer that record images of tissues, organs, and blood vessels
 * Alpha-fetoprotein - a test of the amniotic fluid evaluating the absence/presence of a certain protein
 * Additional blood tests from fetal and maternal blood

Treatment options
Unfortunately, there is no proven medical treatment for anencephaly. Due to the underdevelopment of the baby's brain, roughly 75% of all infants are stillborn at birth. The remaining 25% of live births result in fetal death within a few short hours, days or, rarely, weeks after delivery.

Treatment is aimed at emotionally preparing expectant families for the aftermath of this condition. Social workers may be made available through your OB/GYN physician and can direct you to support resources.

Diseases with similar symptoms

 * Spina bifida

Where to find medical care for Anencephaly?
Directions to Hospitals Treating Condition

What to expect (Outlook/Prognosis)?
The prognosis for babies born with anencephaly is extremely poor. If the infant is not stillborn, then he or she will usually die within a few hours or days after birth.

Anencephaly is one of the most common types of neural tube defect, affecting about 1 in 1,000 pregnancies. However, most of these pregnancies end in miscarriage, so the prevalence of this condition in newborns is much lower. An estimated 1 in 10,000 infants in the United States is born with anencephaly.

Possible complications

 * Stillborn
 * Miscarriage

Prevention
It is important for women who may become pregnant to get enough folic acid. There is good evidence that folic acid can help reduce the risk of certain birth defects, including anencephaly. Women who are pregnant or planning to become pregnant should take a multivitamin with folic acid every day. Many foods are now fortified with folic acid to help prevent these kinds of birth defects.

Getting enough folic acid can reduce the chance of neural tube defects by 50 percent.