| What is
a neural tube defect ? The two main
neural tube defects are spina bifida and anencephaly.
Anencephaly occurs when a large part of the
scull is missing. The brain is not well formed
and the child dies at birth. Spina bifida occurs
when some of the bones of the spine are split.
This can result in damage to the exposed neural
tissue causing weaknesses or
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paralysis
of the limbs and may affect internal organs.
The incidence of neural tube defects does not
fluctuate with maternal age. When early ultrasound
is combined with alpha-fetoprotein detect in
in the second trimester, as with the integrated
screening detection rates are 100% for anenephalies
and 80% for spina bifidas.
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Can
the screening test detect other abnormalities?
Yes, other chromosomal abnormalities
such as trisomy 18 and 13 are detected in 90%
of patients.
An increased nuchal translucency with a normal
karyotype is associated with other abnormalities
such as cardiac malformations.
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