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DR SANA YASEEN
LECTRER
ANATOMY DEPARTMENT
Neural tube defects are birth defects associated with
neural tube structures such as the brain, spine, or spinal
cord.
They happen in the first month of pregnancy third or fourth
week of development, often before a woman even knows
that she is pregnant
Spina bifida, which literally means “cleft spine,”.
Is the general term use for NTDS effecting spinal cord.
Types of spina bifida:
 Spina bifida occulta
 Spina bifida cystica
Occurs due to lack of fusion of vertebral arches.
 It is sometimes called “hidden” spina bifida. Is not
discovered until late childhood or adulthood.
 Is a defect in the vertebral arches that is covered
by skin and doesnot involve the undrlying neuronal
tissues.
 Dura matter is intact.
 Occurs in lumbosacral region (L4-S1)
 Mark by patch of hair overlying the effected
region.
 present in 10-20 percent of the general
population, rarely causes disability or symptoms.
 Is a severe type of NTDs in which
meninges or the neural tissue also
protude out in the form of sac through
the defect in the vertebral arches.
 The skin is intact.
 Mostly are located in lumbosacral
region.
 Is not associated with mental
retardation.
 types of spina bifida cystica are:
 Meningocele
 Meningomyelocele
 spinal fluid and meninges
protrude through an
abnormal vertebral
opening;
 the malformation contains
no neural elements and
may or may not be covered
by a layer of skin.
 Some individuals with
meningocele may have few
or no symptoms while
others may experience such
symptoms as complete
paralysis with bladder and
bowel dysfunction.
is the most severe and occurs
when the spinal cord/neural
elements are exposed through the
opening in the spine, resulting in
partial or complete paralysis of
the parts of the body below the
spinal opening.
The impairment may be so severe
that the affected individual is
unable to walk and may have
bladder and bowel dysfunction.
 depending on the type and level of involvement.
 Closed neural tube defects are often recognized early in life due to an
abnormal tuft or clump of hair or a small dimple or birthmark on the skin
at the site of the spinal malformation.
 Meningocele and myelomeningocele generally involve a fluid-filled sac—
visible on the back—protruding from the spinal canal.
 In meningocele, the sac may be covered by a thin layer of skin.
 In most cases of myelomeningocele, there is no layer of skin covering the
sac and an area of abnormally developed spinal cord tissue is usually
exposed.
 Prenatal: alpha feto protein,
acetylecholinesteraselevel in maternal serum and amniotic fluid
These markers are present in neural tissue. When nuera tube is open these
markers are release in the amniotic fluid. It is not diagnostic marker in
SBOcculta. As neural tube is intact in this type.
 ultrasound ( 12 week vertebrae can be visualize )
 Infacnt ultrasound
 Fetal MRI
 Selected medical centers continue to perform fetal surgery for treatment
of myelomeningocele through a National Institutes of Health experimental
protocol (Management of Myelomeningocele Study, or MOMS).
 Fetal surgery is performed in utero (within the uterus) and involves
opening the mother’s abdomen and uterus and sewing shut the abnormal
opening over the developing baby’s spinal cord.
 Some doctors believe the earlier the defect is corrected, the better the
baby’s outcome.
 Although the procedure cannot restore lost neurological function, it may
prevent additional loss from occurring.
 The surgery is considered experimental and there are risks to the fetus as
well as to the mother.
 The major risks to the fetus are those that might occur if the surgery
stimulates premature delivery, such as organ immaturity, brain
hemorrhage, and death.
 Risks to the mother include infection, blood loss leading to the need for
transfusion, gestational diabetes, and weight gain due to bed rest.
Research has shown that if all women of childbearing age
took a multivitamin with the B-vitamin folic acid, the risk of
neural tube defects could be reduced by up to 70%.
Is charcterised by failure of closure of cephalic part of the
neural tube. As the result vault of the skull is not form leaving
the brain exposed.
This condition is usually found in embryos as an early stage of
anencephaly
As an exencephalic pregnancy progresses, the neural tissue
gradually degenerates.
The prognosis for infants born with exencephaly is extremely
poor.
 Is the type of NTD in which
neural tube fails to fuse in its
cranial end.
 Anencephaly is a serious birth
defect in which a baby is born
without parts of the brain and
skull.
 Anencephaly most often leads to
death in days or weeks.
 Failure of the fusion or closure of the neural tube
 Neural tube defects may be caused by genes passed on from both
parents and by environmental factors.
 Some of these factors include obesity, uncontrolled diabetes in the
mother, and some prescription medicines.
 In most cases, a child with a neural tube defect has no family history
of this problem.
 Symptoms can occur a bit differently in each child. They can include:
 No bones on the back of the head
 Missing bones on the front and sides of the head
 Large areas of brain missing
 Folding of the ears
 Split in the roof of the mouth (cleft palate)
 Congenital heart defects
 Prenatal ultrasound esp on 14 week for 100percent accuracy.
Prenatal ultrasound may be able to find an open neural tube defect
 Amniocentesis. This test looks at a small sample of the fluid that
surrounds the baby in the womb. The healthcare provider uses a long,
thin needle to reach the amniotic sac. He or she takes the sample of
fluid and checks it for AFP. The test may not be able to find small or
closed defects. Maternal AFP are highly elevated.
 There is no positive treatment for NTD esp anacephaly.
 Babies usuall survive for days to weeks or maybe months.
 It can be prevented by females taking folic acid during reproductive
life.
THANK YOU...

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NEURAL TUBE DEFECTS.pptx

  • 2. Neural tube defects are birth defects associated with neural tube structures such as the brain, spine, or spinal cord. They happen in the first month of pregnancy third or fourth week of development, often before a woman even knows that she is pregnant
  • 3. Spina bifida, which literally means “cleft spine,”. Is the general term use for NTDS effecting spinal cord. Types of spina bifida:  Spina bifida occulta  Spina bifida cystica
  • 4. Occurs due to lack of fusion of vertebral arches.
  • 5.  It is sometimes called “hidden” spina bifida. Is not discovered until late childhood or adulthood.  Is a defect in the vertebral arches that is covered by skin and doesnot involve the undrlying neuronal tissues.  Dura matter is intact.  Occurs in lumbosacral region (L4-S1)  Mark by patch of hair overlying the effected region.  present in 10-20 percent of the general population, rarely causes disability or symptoms.
  • 6.  Is a severe type of NTDs in which meninges or the neural tissue also protude out in the form of sac through the defect in the vertebral arches.  The skin is intact.  Mostly are located in lumbosacral region.  Is not associated with mental retardation.  types of spina bifida cystica are:  Meningocele  Meningomyelocele
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  • 8.  spinal fluid and meninges protrude through an abnormal vertebral opening;  the malformation contains no neural elements and may or may not be covered by a layer of skin.  Some individuals with meningocele may have few or no symptoms while others may experience such symptoms as complete paralysis with bladder and bowel dysfunction.
  • 9. is the most severe and occurs when the spinal cord/neural elements are exposed through the opening in the spine, resulting in partial or complete paralysis of the parts of the body below the spinal opening. The impairment may be so severe that the affected individual is unable to walk and may have bladder and bowel dysfunction.
  • 10.  depending on the type and level of involvement.  Closed neural tube defects are often recognized early in life due to an abnormal tuft or clump of hair or a small dimple or birthmark on the skin at the site of the spinal malformation.  Meningocele and myelomeningocele generally involve a fluid-filled sac— visible on the back—protruding from the spinal canal.  In meningocele, the sac may be covered by a thin layer of skin.  In most cases of myelomeningocele, there is no layer of skin covering the sac and an area of abnormally developed spinal cord tissue is usually exposed.
  • 11.  Prenatal: alpha feto protein, acetylecholinesteraselevel in maternal serum and amniotic fluid These markers are present in neural tissue. When nuera tube is open these markers are release in the amniotic fluid. It is not diagnostic marker in SBOcculta. As neural tube is intact in this type.  ultrasound ( 12 week vertebrae can be visualize )  Infacnt ultrasound  Fetal MRI
  • 12.  Selected medical centers continue to perform fetal surgery for treatment of myelomeningocele through a National Institutes of Health experimental protocol (Management of Myelomeningocele Study, or MOMS).  Fetal surgery is performed in utero (within the uterus) and involves opening the mother’s abdomen and uterus and sewing shut the abnormal opening over the developing baby’s spinal cord.  Some doctors believe the earlier the defect is corrected, the better the baby’s outcome.  Although the procedure cannot restore lost neurological function, it may prevent additional loss from occurring.
  • 13.  The surgery is considered experimental and there are risks to the fetus as well as to the mother.  The major risks to the fetus are those that might occur if the surgery stimulates premature delivery, such as organ immaturity, brain hemorrhage, and death.  Risks to the mother include infection, blood loss leading to the need for transfusion, gestational diabetes, and weight gain due to bed rest.
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  • 19. Research has shown that if all women of childbearing age took a multivitamin with the B-vitamin folic acid, the risk of neural tube defects could be reduced by up to 70%.
  • 20. Is charcterised by failure of closure of cephalic part of the neural tube. As the result vault of the skull is not form leaving the brain exposed. This condition is usually found in embryos as an early stage of anencephaly As an exencephalic pregnancy progresses, the neural tissue gradually degenerates. The prognosis for infants born with exencephaly is extremely poor.
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  • 22.  Is the type of NTD in which neural tube fails to fuse in its cranial end.  Anencephaly is a serious birth defect in which a baby is born without parts of the brain and skull.  Anencephaly most often leads to death in days or weeks.
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  • 24.  Failure of the fusion or closure of the neural tube  Neural tube defects may be caused by genes passed on from both parents and by environmental factors.  Some of these factors include obesity, uncontrolled diabetes in the mother, and some prescription medicines.  In most cases, a child with a neural tube defect has no family history of this problem.
  • 25.  Symptoms can occur a bit differently in each child. They can include:  No bones on the back of the head  Missing bones on the front and sides of the head  Large areas of brain missing  Folding of the ears  Split in the roof of the mouth (cleft palate)  Congenital heart defects
  • 26.  Prenatal ultrasound esp on 14 week for 100percent accuracy. Prenatal ultrasound may be able to find an open neural tube defect  Amniocentesis. This test looks at a small sample of the fluid that surrounds the baby in the womb. The healthcare provider uses a long, thin needle to reach the amniotic sac. He or she takes the sample of fluid and checks it for AFP. The test may not be able to find small or closed defects. Maternal AFP are highly elevated.
  • 27.  There is no positive treatment for NTD esp anacephaly.  Babies usuall survive for days to weeks or maybe months.  It can be prevented by females taking folic acid during reproductive life.