F A C T S H E E T

NEURAL TUBE DEFECTS - SPINA BIFIDA & ANENCEPHALY 59

Produced by the Centre for Genetics Education. Internet: http://www.genetics.edu.au

Important points
• The neural tube is the embryonic structure that develops into the brain and spinal cord. Very early in a baby’s development,
a layer of cells folds over and ‘zips up’ to form the neural tube. If the neural tube fails to ‘zip up’ completely at some point, the
spine or brain’s development will be impacted, causing many babies to die and others to have problems with walking and with
bowel and bladder control.
• Spina bifida and anencephaly are the most common forms of neural tube defects affecting about 1 in every 500 pregnancies
and about 1 in every 600 births – the difference is due to the loss of pregnancies affected with neural tube defects.
Spina bifida
• Where the spinal cord and the protective sac that surrounds the cord (meninges) may protrude through the open part of the
spine
• Symptoms vary depending on the position of the opening along the spine and on how much of the spinal cord, or the
protective sac (meninges), protrudes through the spine
• The spinal abnormality may be so slight as to cause only minor effects; in other cases, surgery is possible but some degree of
disability may remain
• Some affected babies, children and adults develop hydrocephalus or ‘water on the brain’ and the fluid needs to be drained
through a special tube (called a shunt) that is surgically placed and runs under the skin, down into the chest or abdomen
Anencephaly
• When the neural tube fails to close at the head, the brain and the skull bones do not develop normally
• Infants born with this problem die at, or soon after, birth
Prevention
• In most women, it is possible to reduce the risk of neural tube defects by their taking the vitamin, folic acid, and other
vitamins, in a specified dose at least one month prior to conception and continuing throughout the first few months of
pregnancy (see Genetics Fact Sheet 19)
• If there is a family history of a neural tube defect, or the woman has epileptic seizures, she may need more folic acid (folate)
than most women
• Genetic counselling (see Genetics Fact Sheet 3) can provide current information about the conditions, the preventive plan,
assessment of their particular risk and discussion of the tests that are available to detect affected babies before birth (see
Genetics Fact Sheets 17A & 17B)

What are neural tube defects? What causes neural tube defects?
The neural tube is the embryonic structure that develops into the While research is ongoing, it is evident that both heredity and certain
brain and spinal cord. Very early in a baby’s development, a layer factors in the prenatal environment act together to cause NTDs.
of cells folds over and ‘zips up’ to form the neural tube.
If the neural tube fails to ‘zip up’ completely, this will have an Anencephaly
impact on the development of the spine or brain. Anencephaly occurs when the neural tube fails to close at the head.
Spina bifida and anencephaly are the most common problems The brain and the skull bones do not develop normally.
with the development of the spine or brain; together they are
• Infants born with this problem die at, or soon after birth.
called neural tube defects (NTDs).
• NTDs occur very early in pregnancy, by the 28th day after
Spina bifida
conception. This is often before a woman knows she is
The term spina bifida comes from the Latin words ‘spina’ meaning
pregnant
spine and ‘bifida’ meaning split or divided.
• NTDs cause many babies to die and others to have problems
The back-bone (spine) is made up of separate bones called
with walking and with bowel and bladder control. They
vertebrae, which normally cover and protect the spinal cord.
affect about 1 in every 500 pregnancies and about 1 in every
• When the baby is developing, if the developing neural tube
600 births; the difference in these rates is due to the loss of
fails to close (usually at the base of the spine), the vertebrae
pregnancies affected with NTDs
will not completely fuse
• Any population group can be affected
• As a result, the spinal cord and the protective sac that
surrounds the cord (meninges) may protrude through the open
part of the spine, ie. spina bifida.

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 F A C T S H E E T
NEURAL TUBE DEFECTS - SPINA BIFIDA & ANENCEPHALY 59

vertebra spinal cord vertebra spinal cord

Location of Cerebrospinal
spina bifida Fluid
(CSF)

meninges

Figure 59.1: Spina bifida occulta where the outer parts of the vertebrae are not Figure 59.2: Meningocele where the outer part of the vertebrae are split and
completely joined. The spinal cord and covering (meninges) are undamaged. the spinal cord is normal. Only the covering of the spinal cord (meninges) is
damaged and pushed out through the opening.

Symptoms associated with spina bifida vary depending on the inside the skull caused by fluid, and to minimise the chance of
position of the opening along the spine and on how much of the intellectual impairment occurring.
spinal cord, or the protective sac (meninges), protrudes through
the vertebrae. Can neural tube defects be prevented by taking the vitamin folate?
• If only the sac protrudes, the condition is less severe than if the Every woman has a chance of having a child with an NTD. Most
cord itself and the associated nerves protrude and are damaged of the time this chance is small.
• The condition tends to have a more severe effect when the In most women, it is possible to reduce the chance of NTDs
opening is higher up the spine occurring in a baby, by taking the vitamin, folic acid (folate), and
Spina bifida has been grouped into different categories according other vitamins, in a specified dose.
to the location and severity of the abnormality: It is recommended that they take these vitamins at least one
• Occulta is where the outer parts of the vertebrae is not month prior to conception and continue to do so throughout the
completely joined. The spinal cord and covering (meninges) are first few months of pregnancy (see Genetics Fact Sheet 19).
undamaged. There are often tufts of hair found at the site of If there is a family history of an NTD, or the woman has
the abnormality (Figure 59.1). epileptic seizures, she may need more folate than most women.
• Meningocele is where the outer parts of the vertebrae are Advice on this preventive treatment should be discussed with
split and the spinal cord is normal. Only the covering of the a woman’s medical practitioner or a genetic counsellor.
spinal cord (meninges) is damaged and pushed out through the
opening (Figure 59.2). What is the pattern of inheritance of neural tube defects in families?
• Myelomeningocele where the outer parts of the vertebrae is For the majority of cases of spina bifida or anencephaly, both
split and the spinal cord and the meninges are damaged and genetic factors and environmental factors are involved in the
protruding from the opening (Figure 59.3). cause of the condition. The pattern of inheritance is not clear-cut
and is described as multifactorial (see Genetics Fact Sheet 11).
Can spina bifida be treated? In the majority of cases, the non-genetic factor contributing to
The spinal abnormality may be slight, causing only minor effects. the NTD is the lack of folate in the baby’s environment.
In this situation, treatment may not be required. Genetic factors are involved however as some women are at
In most cases of spina bifida, the opening and protrusion of the increased risk for having a baby with an NTD.
spinal cord can be surgically corrected but some degree of disability If a woman has had one baby with an NTD, the chance of
may remain, affecting the lower limbs as well as bladder and bowel having another affected baby is about 1 in 20.
function. • About half of this risk will be for anencephaly
Some individuals with spina bifida may develop hydrocephalus • A woman is at equal risk for either spina bifida or anencephaly
or ‘water on the brain’. This happens when spinal fluid collects in in future pregnancies, regardless of whichever of these neural
and around the brain, causing the head to become enlarged. The tube defects occurred in a previous pregnancy
fluid can be drained through a special tube (called a shunt) that is • A woman is also at risk for having a baby with an NTD if there
surgically placed and runs under the skin, down into the chest or is a close relative who has had a baby with either spina bifida
abdomen. Such treatment helps to reduce the build-up of pressure or anencephaly, or is taking certain drugs to control epilepsy

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NEURAL TUBE DEFECTS - SPINA BIFIDA & ANENCEPHALY 59

What can be done if a woman thinks she is at increased risk for

vertebra spinal cord
having a baby with a neural tube defect?
If a woman thinks that she may have an increased risk of having
a child with a neural tube defect, she needs to discuss her family
history or medications with her doctor. If she is at increased risk,
she will need to take folic acid tablets to increase the level of folate
over and above that which she could get from her diet.
Cerebrospinal Genetic counselling (see Genetics Fact Sheet 3) can provide
Fluid
current information about the conditions, the preventive plan,
(CSF)
assessment of their particular risk and discussion of the tests that
are available to detect affected babies before birth (see Genetics
Fact Sheets 17A & 17B).

Other Genetics Fact Sheets referred to in this Fact Sheet: 3, 11, 17A,
17B, 19
Figure 59.3: Myelomeningocele where the outer part of the vertebrae is
split with the spinal cord and the meninges damaged and protruding from the
opening.

Information in this Fact Sheet is sourced from:

Barlow-Stewart K, Emery J and Metcalfe S. (2007). Testing and pregnancy. In: Genetics in family medicine; the Australian handbook for general
practitioners. Canberra: Biotechnology Australia, Commonwealth Department of Industry, Tourism and Resources
Eichholzer M, Tonz O, Zimmermann R. (2006). Folic acid: a public-health challenge. Lancet. 22;367(9519):1352-61
Harper P, (2004). Practical Genetic Counselling. London; Arnold
National Organisation for Rare Disorder (NORD) [online]. Available from: http://www.rarediseases.org/. [Accessed June 2007]
Padmanabhan R.(2006). Etiology, pathogenesis and prevention of neural tube defects. Congenit Anom (Kyoto), 46(2):55-67
Spina Bifida Group of NSW [online]. Available from: http://www.northcott.com.au. [Accessed June 2007]
Spina Bifida & Hydrocephalus Association of South Australia [online]. Available from: http://www.spinabifida.asn.au/facts.html. [Accessed June
2007]

Edit history
June 2007 (8th Ed)
Author/s: A/Prof Kristine Barlow-Stewart
Acknowledgements this edition: Gayathri Parasivam
Previous editions: 2004, 2002, 2000, 1998, 1996, 1994, 1993
Acknowledgements previous editions: Mona Saleh; Bronwyn Butler; Dr Deborah Kennedy; Dr Barbara Field

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