Gl001580sc

Alternative names:

anencephaly sequence

Symptoms:

Maternal:

• polyhydramnios; this is a condition in which too much fluid is present in the uterus with the fetus. It is often a condition suggesting some problem with the pregnancy. It is seen before birth.

Infant:

• absence of the skull
• absence of the brain (cerebral hemispheres and cerebellum)
• abnormalities of facial features
• heart defects

Signs and tests:

Signs:

• polyhydramnios (this condition is seen prior to delivery)

Tests:

• prepregnancy serum folic acid test
• amniocentesis (done on the mother to determine if increases levels of alpha-fetoprotein are present)
• elevated alpha fetoprotein levels during pregnancy (increased levels are suggestive of a neural tube defect)
• urine estriol levels during pregnancy
• ultrasound, pregnancy studies - confirms the diagnosis