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Folic acid deficiencies leading to neural tube Defect

Definition
A neural tube defect is a congenital defect in the covering of the central nervous system,
resulting from a failure of the neural tube to close spontaneously during the 3rd or 4th week of
embryonic development.

Types
The two most common NTDs are spina bifida (a spinal cord defect) and anencephaly (a brain
defect).

Neural tube
Very early on in fetal development, the ectoderm, which is the outer layer of the fertilized egg,
starts to develop a bit of a ridge that eventually becomes the neural tube.
This neural tube goes on to become the spinal cord, the brain, as well as tissues that enclose and
protect them, called the meninges, and spina bifida occurs when a portion of this neural tube fails
to close properly, typically in the lower back.
Neuropore: openings to the exterior at the anterior and posterior ends of the neural tube of a
vertebrate embryo.

Spina bifida
The term “spina bifida” comes from the latin “split spine,”

Types and clinical presentation


spina bifida that has four important subtypes: spina bifida occulta, meningocele,
myelomeningocele, and myeloschisis.

spina bifida occulta


The most common and most mild form is spina bifida occulta, where “occulta” is Latin for
hidden. This is because the deformities in the tissues of the lower back are tiny.
meningocele, sometimes called a meningeal cyst.

Now, a more serious form of spina bifida is myelomeningocele , also called


meningomyelocele.
Another, even more severe form of open spina bifida, is myeloschisis . In this form,
the neural tissue protrudes from the back without the meninges or the skin covering it, so it’s
exposed completely to the external environment.

Anencephaly
Now apart from spina bifida, a very severe form of NTD is anencephaly, where a major part of
the brain and skull is absent.
A high yield concept about anencephaly is that the part of the brain that is responsible for neural
control of swallowing is absent. As a result, the fetus can’t properly swallow amniotic fluid and
so excess fluid builds up in the amniotic sac. This is known as polyhydramnios, and it increases
the risk of complications such as fetal malposition, premature birth, and placental abruption. Due
to the severe nature of the condition, the risk of stillbirth is high and surviving infants only
survive hours to days after birth.

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