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Anencephaly - Symptom

Alternative Names

Aprosencephaly with open cranium

Symptoms:

Absence of the skull
Absence of the brain (cerebral hemispheres and cerebellum)
Facial feature abnormalities
Heart defects

Signs and tests:

A pregnancy ultrasound is done to confirm the diagnosis. The ultrasound may reveal too much fluid is in the uterus. This condition is called polyhydramnios.

Other tests that may be done on the pregnant mother:

Amniocentesis (to look for increased levels of alpha-fetoprotein)
Alpha-fetoprotein level (increased levels suggest a neural tube defect)
Urine estriol level

A pre-pregnancy serum folic acid test may also be done.

Ultrasound, normal fetus - ventricles of brain

Reviewed last on: 5/1/2011
Neil K. Kaneshiro, MD, MHA, Clinical Assistant Professor of Pediatrics, University of Washington School of Medicine. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.

References

Kinsman SL, Johnston MV. Congenital anomalies of the central nervous system. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, eds. Nelson Textbook of Pediatrics. 18th ed. Philadelphia, Pa: Saunders Elsevier; 2007:chap 592.

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