ABOUT NEURAL TUBE DEFECTS
(NTDs)
Frequently Asked Questions
> What
are neural tube defects (NTDs) and how are they caused?
> Who
is at-risk for an NTD pregnancy?
> What
is NC's NTD rate?
> What
is the cost of NTDs?
What are neural
tube defects and how are they caused?
A neural tube defect is a birth defect that occurs when
the neural tube, the embryonic structure that grows into
the brain and spine, fails to properly close around 28 days
post-conception. At this stage the embryo is about 2 - 3
mm, about as big as the numbers on a penny. The neural tube
starts out as a tiny pancake of tissue, consisting of the
neural groove, neural fold and neural crest. First, this
folds inward. Next the tube fastens or zippers up. When
the zipper does not close completely, a small hole is left.
As the fetus develops, this hole will not close. The exact
place of the defect along the neural tube will determine
the type of NTD that develops.
The most common NTDs are spina bifida and anencephaly. Spina
bifida is a bony defect of the posterior vertebral arches
with herniation of neural tissue and meninges that is either
covered by skin (closed) or is not (open). There are several
types of spina bifida. Generally, the higher the defect
occurs on the spine and/or the larger the defect, the greater
the disability. Anencephaly is the absence or almost complete
absence of the brain and calvaria (skullcap). This condition
is always fatal.

The March of Dimes has an extensive number
of Fact
Sheets
on birth defects, which can provide a more extensive look
at spina bifida, anencephaly and other NTDs than the scope
of this site allows.
Around 95% of NTDs occur as an isolated defect of unknown
etiology. How folic acid prevents NTDs is not well understood
and is an area of active research. Most studies suggest
that taking a supplement containing folic acid counteracts
poor dietary intake. More recent studies are investigating
if supplemental folic acid compensates for genetic variations
in folate metabolism.
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Who
is at risk for an NTD-affected pregnancy?
| All women of childbearing potential who
live in North Carolina are at risk for an NTD-affected
pregnancy. Other risk factors for NTDs include: |
- Being of English/Irish ancestry
- Being of Hispanic ancestry
- Being of lower socioeconomic status
- Having diabetes
- Being obese
- Having poor dietary habits
- Taking medications that are folate
antagonists such as anti-convulsant medications
(e.g., dilatin, phenytoin), metformin, sulfasalazine,
triamterene and methotrexate
|
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What is NC's
rate of NTD's?
North Carolina has one of the nation's highest rates of
NTDs, Approximately 200 pregnancies are affected each year.
Over half will not survive due to miscarriage, termination
or fetal death. The southeastern states have higher NTD
rates than other areas of the country. The exact reason
for this disparity is not known. However, North Carolina
has a high number of women with known NTD risk factors--
maternal diabetes and obesity, English/Irish ancestry, lower
socioeconomic status, and Hispanic ancestry.
Source: North Carolina Birth Defect Monitoring Program
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What
is the cost of NTDs?
In February 2000, an article in the journal Tetratology
reported the lifetime cost of care of a child with spina
bifida at around $250,000 - $300,000; however, this was
based on data from 1992. Since that time, there have been
significant advances in the treatment of children with spina
bifida along with rising medical costs in general. This
led many to believe that the current lifetime cost is significantly
higher-- perhaps as much as three times higher-- although
no one has published a study to support that belief.
Using the lowest, published cost figure, it is estimated
that if NC women took a multivitamin with folic acid daily,
NC would save $2 - $4 million annually in Medicaid costs.
The emotional and physical costs for families is very high.
Half of NTD pregnancies do not survive. Children born with
spina bifida can have many medical complications from mild
to severe, including paralysis of the legs, loss of bladder
and bowel control, and learning disabilites. Nonetheless,
many children with spina bifida grow up to lead successful
and productive lives. Those children who are lucky enough
to have access to special care and services often lose them
at age 21, so medical care can always be a concern.
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