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Aprosencephaly with open cranium
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:
A pre-pregnancy serum folic acid test may also be done.
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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