INTRODUCTION
Anencephaly is a lethal malformation and is either
the total or the partial absence of the cranial vault,
brain tissue, and covering skin. It arises from a
failure of closure, at the top of the neural tube.
As with other neural tube defects there are reported
associations with maternal insulin dependent diabetes,
hyperthermia, obesity at conception, autosomal trisomies,
and low serum folate concentrations. Anencephaly
is often lethal during pregnancy and universally
lethal in the neonatal period.
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ANTENATAL
Programmes for the prenatal diagnosis of neural
tube defects are well developed in the West Midlands.
Two methods of screening are in use, often together.
The first is maternal serum AFP screening performed
at 16 to 20 weeks gestation, the second is ultrasound
screening, which is widely performed at 16 to 22
weeks for this purpose. AFP serum screening is thought
to be more than 90% sensitive for anencephaly. Ultrasound
scanning is highly effective as a screening tool
when offered to women at 18 to 20 weeks gestation.
Anencephaly is possible to diagnose at a gestation
of 12 to 14 weeks, by direct visualisation of the
cranium.
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POSTNATAL
The outcome for anencephaly is highly predictable
and universally poor, making surgical intervention
inappropriate. The care of these babies and their
families is modelled on the care offered in other
situations of terminal care. Symptomatic rather than
curative treatment is appropriate for the baby.
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WEST
MIDLANDS DATA
To be added.
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