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CAR: Anomalies - CNS

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    Neural tube
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Introduction Antenatal Postnatal West Midlands Data


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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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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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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To be added.

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© Perinatal Institute 2011