Symptoms & Signs
* Absence of the skull
* Absence of the brain (cerebral hemispheres and cerebellum)
* Facial feature abnormalities
* Heart defects
Diagnosis & 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.
Reviewed By : David C. Dugdale, III, MD, Professor of Medicine, Division of General Medicine, Department of Medicine, University of Washington School of Medicine; 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.