What is Anencephaly?
Anencephaly is a defect in the closure of the neural tube during fetal development. The neural tube is a narrow channel that folds and closes between the 3rd and 4th weeks of pregnancy to form the brain and spinal cord of the embryo. Anencephaly occurs when the "cephalic" or head end of the neural tube fails to close, resulting in the absence of a major portion of the brain, skull, and scalp. Infants with this disorder are born without a forebrain (the front part of the brain) and a cerebrum (the thinking and coordinating part of the brain). The remaining brain tissue is often exposed--not covered by bone or skin. A baby born with anencephaly is usually blind, deaf, unconscious, and unable to feel pain. Although some individuals with anencephaly may be born with a rudimentary brain stem, the lack of a functioning cerebrum permanently rules out the possibility of ever gaining consciousness. Reflex actions such as breathing and responses to sound or touch may occur.
An alpha-fetoprotein (AFP) blood test checks the level of AFP in a pregnant woman's blood. AFP is a substance made in the liver of a unborn baby (fetus). The amount of AFP in the blood of a pregnant woman can help see whether the baby may have such problems as spina bifida and anencephaly. An AFP test can also be done as part of a screening test to find other chromosomal problems, such as Down syndrome (trisomy 21) or Edward syndrome (trisomy 18). An AFP test can find an omphalocele, a congenital problem in which some of the baby's intestines stick out through the belly wall.
Normally, low levels of AFP can be found in the blood of a pregnant woman. No AFP (or only a very low level) is generally found in the blood of healthy men or healthy, nonpregnant women.
