In chemical reaction, converting 5,10-methyenetertrahydrofolate to 5-methyltetrahydrofolate to

In this day and age, there is still no set cause of Spina
bifida, however there are many factors that contribute to the risk of a foetus acquiring
the disease.


One of the best studied causes of Spina Bifida is the lack
of folic acid during early pregnancy. Folic acid is found in food such as spinach,
broccoli, citrus fruits and peas. The gene that is responsible for processing folic
acid (also known as vitamin B9) is MTHFR. MTHFR makes an enzyme called methylenetetrahydrofolate
reductase which processes amino acids involved in the chemical reaction,
converting 5,10-methyenetertrahydrofolate to 5-methyltetrahydrofolate to form
folic acid. Women are advised to consume more folic acid during pregnancy to prevent
the risk of their child developing a neural tube defect. If someone has an
increased risk of their child having spina bifida they are advised to take a
higher dose than normal of 5mg of folic acid every day until they are 12 weeks

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A child is at an increased risk of developing spina bifida
during pregnancy if the mother or father have a neural tube defect or if they
have a family history of neural tube defects. If a family member previously had
a problem with the MTHFR gene then that could be passed onto the foetus and
they would have an increased chance of developing spina bifida. Spina Bifida
has a rate of less than 1 in 1500 however, if the mother has already had a
child with the condition, it takes the chances of having another child with the
same defect to 1 in 25. As a side effect, sometimes spina bifida can occur with
some genetic diseases such as Down’s Syndrome.


If a mother is prone to seizures, has epilepsy or any other
mental health problems they may be on the drug Valproate or Carbamazepine as
treatment. These drugs are a known contributor to the development of spina
bifida as … (still need to find this out!!!)))


Maternal obesity and diabetes is another known risk for a
foetus to develop spina bifida. The reason is unclear, however having an
elevated blood sugar level during pregnancy may alter the gene regulation of
the baby leading to changes in the epigenome.














Spina Bifida can either be diagnosed though prenatal or
postnatal methods. Prenatal methods normally diagnose the most severe cases of
spina bifida. The methods include a Maternal Serum Alpha-Fetoprotein Test which
takes place in the mother’s second trimester. A sample of blood from the mother
is tested for Alpha Fetoprotein (AFP) which is a protein that only foetus’
produce. In most, but not all cases, the AFP results are high then it will
result in the child having spina bifida. Following on from this, an advanced
ultrasound is able to detect structures such as an open spine. However, if the
foetus’ levels of AFP are high but nothing can be detected on the ultrasound
then an amniocentesis may be conducted. This includes a sample being taken from
the amniotic sac and if there is a high AFP level in the fluid then the child
will have spina bifida as the protein has seeped out of the defect and into the
amniotic fluid.


Postnatal diagnosis is obvious with the most severe cases of
spina bifida as the baby will have a bulge/sac on their lumbar spine. With
minor forms of spina bifida, a hairy or dark birth mark on the lumbar spine may
be seen, leading the medical specialists to conduct an ultrasound, a MRI or a
CT scan to see the spine and vertebrae more clearly to confirm the diagnosis. 


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