What is anencephaly
Anencephaly is a congenital birth defect (from the Latin congenitus, “born with”). It begins to develop right at the start of life in the womb. The word anencephaly means “without an encephalon”, the encephalon being the set of nervous center contained in the brain. This is not an entirely accurate definition: whilst a child with anencephaly is indeed born without a scalp, without a vault of the cranium, without meninges, without either brain hemisphere and without a cerebellum, the child is nevertheless usually born with part of its cerebral trunk, brainstem (Müller 1991). Infants with anencephaly may still have small foci of histologically normal cerebral cortex (Stumpf et al 1990)
Almost 75% of babies with anencephaly born at term survive their birth. The life expectancy of those who survive is only a few hours or days (Jaquier 2006).
Approximately 20 percent of affected infants have additional congenital anomalies (Botto 1999).
Occurrence:
Approximately one child for every 1000 births (Central Europe). This rate varies according to populations. (Sadler, T.W. 2005)
Children most affected:
Anencephaly affects more girls than it does boys.
Can it be treated?
Unfortunately, there is no known treatment for a child with an anencephaly
Life expectancy:
About 25% of anencephalic children who live to the end of the pregnancy die during delivery; 50% have a life expectancy of between a few minutes and 1 day, 25% live up to 10 days (Jaquier 2006)
At what point can an anencephaly be diagnosed?
Anencephaly can be reliably diagnosed at 11-14 weeks of gestation by ultrasound scan(Johnson SP et al. 1997)
AFP levels can be measured via a maternal serum screening test (blood test). If levels are high, there is a risk that the child may be suffering from an NTD. Further tests must then be carried out (ultrasound scan or amniocentesis) to determine whether there really is a problem. Screening must take place between the 15th and the 20th week, the best time being the 16th week.
Can an anencephalic child sense or do anything?
Doctors will tell you that an anencephalic child can neither see nor hear, nor feel pain, that he or she is a vegetable. However, that does not match up with the experience of many families who have had an anencephalic child. The brain is affected to varying degrees, according to the child; the brain tissue can reach different stages of development. Some children are able to swallow, eat, cry, hear, feel vibrations (loud sounds), react to touch and even to light. But most of all, they respond to our love: you don’t need a complete brain to give and receive love- all you need is a heart!
What is the rate of recurrence?
In most cases it is an isolated anomaly and it is very unlikely that it should occur again in the same family. Statistically, the rate of recurrence for a woman who has already had an anencephalic child is 4%.