Tests and Treatment
Anencephaly is usually diagnosed during a routine foetal ultrasound between 8 and 14 weeks. From this, the flattened shape of the skull can be seen. If this is missed, when the baby is born the abnormal facial bones and abnormal brain development can be visibly seen.
Other diagnostic tests include:
Urine estriol level
This test measures the levels of oestrogen hormones in the pregnant woman’s urine. Estriol is a common oestrogen hormone tested as well as estradiol and estrone. When this level is low this may indicate anencephaly.
Alpha-fetoprotein
A maternal serum alpha fetoprotein screen tests the amount of alpha-fetoprotein (AFP) in a pregnant mothers blood. High levels of AFP can suggest a neural tube defect such as anencephaly.
Amniocentesis
Amniocentesis is the process of taking a sample of amniotic fluid from the amniotic sac to check for neural tube defects. This test is performed between the 15th and 20th week of pregnancy. This also tests for alpha-fetoprotein, if at a high level this can indicate anencephaly.
Unfortunately there is no medical treatment for anencephaly. Many foetuses do not reach full term and those that do are either stillborn (75%) or die within only a matter of hours or days (25%) following birth. In both cases the baby is lacking the forebrain and cerebrum. Emotional support for the family is provided through counselling and support groups. Genetic counselling may also be on offer to talk about the chances of having another child with a spinal cord defect plus ways to prevent this happening such as vitamin therapy.
Article image - Ultrasound of a baby with anencephaly courtesy of Wiki Commons: commons.wikimedia.org/wiki/File:Ultrasound_Scan_ND_158.jpg