Aprosencephaly with open cranium
Key points
- Anencephaly is the absence of a large part of the brain and the skull.
- Anencephaly is a neural tube defect that occurs early in the development of an unborn baby.
- Treatment No specific therapy is recommended, since this is a fatal condition.
- This condition is usually found by the physician during routine prenatal testing and ultrasound.
Alternative names
Anencephaly
Definition
Anencephaly is the absence of a large part of the brain and the skull.
Causes, incidence, and risk factors
Anencephaly is a neural tube defect that occurs early in the development of an unborn baby. Neural tube defects involve the tissue that grows into the brain and spinal cord. Anencephaly results when the upper portion of the neural tube fails to close. Why this happens is not known. Possible causes include environmental toxins and low intake of Folic acid during pregnancy.
Anencephaly occurs in about 4 out of 10,000 births. The exact number is unknown, because many of these pregnancies spontaneously abort. Having one anencephalic infant increases the risk of having another child with neural tube defects.
Low intake of Folic acid during pregnancy can also contribute to neural tube defects such as anencephaly.
Symptoms
In the mother:
- If there is too much fluid is in the uterus, this often suggests a problem with the pregnancy. This condition, called polyhydramnios, is seen before birth.
In the infant:
- Absence of the skull
- Absence of the brain (cerebral hemispheres and cerebellum)
- Facial feature abnormalities
- Heart defects
Signs and tests
The following tests can help identify anencephaly:
- Prepregnancy serum Folic acid test
- Amniocentesis (done on the mother to determine if increased levels of alpha-fetoprotein are present)
- Elevated alpha-fetoprotein levels during pregnancy (increased levels suggest a neural tube defect)
- Urine estriol levels during pregnancy
- Ultrasound to confirm the diagnosis
Treatment
No specific therapy is recommended, since this is a fatal condition.
Expectations (prognosis)
This condition is usually fatal within days.
Frequently asked questions
What is aprosencephaly with open cranium?
Anencephaly is the absence of a large part of the brain and the skull.
What are the risk factors for aprosencephaly with open cranium?
Anencephaly is a neural tube defect that occurs early in the development of an unborn baby. Neural tube defects involve the tissue that grows into the brain and spinal cord. Anencephaly results when the upper portion of the neural tube fails to close. Why this happens is not known. Possible causes include environmental toxins and low intake of Folic acid during pregnancy. Anencephaly occurs in about 4 out of 10,000 births. The exact number is unknown, because many of these pregnancies spontaneously abort. Having one anencephalic infant increases the risk of having another child with neural tube defects.
What are the symptoms of aprosencephaly with open cranium?
In the mother:
- If there is too much fluid is in the uterus, this often suggests a problem with the pregnancy. This condition, called polyhydramnios, is seen before birth. In the infant:
- Absence of the skull
- Absence of the brain (cerebral hemispheres and cerebellum)
- Facial feature abnormalities
- Heart defects Signs and tests The following tests can help identify anencephaly:
- Prepregnancy serum Folic acid test
- Amniocentesis (done on the mother to determine if increased levels of alpha-fetoprotein are present)
- Elevated alpha-fetoprotein levels during pregnancy (increased levels suggest a neural tube defect)
Written and revised by
David Cohen, M.D.
Our doctors write and review articles for accuracy and keep them up to date.
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