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Anencephaly

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Anencephaly

Anencephaly is a neural tube defect (NTD) and comes from Latin without an encephalon. Not entirely accurate Child is born without a scalp, vault of the cranium, meninges, either brain hemisphere and the cerebellum. (Muller,1991) Occurs during 20-28th day after conception.

Epidemiology
1 child for every thousand births (Central Europe). Affects females more than males. (Sadler, 2005) Most anencephalics so not survive birth and those who do live for few hours to days. Rate of recurrence in subsequent pregnancies is 3-5%.

Diagnosis
Reliable diagnosis made at 1114 weeks of gestation by ultrasound. Increased levels of AFP (alpha foeto protein) raise the risk of a NTD. Further tests can be carried to validate the diagnosis such as amniocentesis.

Causes and prevention


Possible association with deficiencies in transcription factor TEAD2. Women with certain medications for epilepsy and insulin dependent diabetes are at a relatively higher risk of anencephalic baby. High exposure to toxins such as lead, chromium, mercury and nickel. A Folic acid dose of 0.4 mg everyday before conception reduces the risk by 50-70%.

Prognosis
Unfortunately, No treatment available. Most pregnancies are terminated and those born do not survive birth. Raises ethical debate as medically they can never achieve consciousness. Normally anencephalics given nutrition, hydration and allowed to run through its course, i.e., death. Some view even that as futile.

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