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GRACIOUS COLLEGE OF NURSING
RAIPUR C.G.
Neural tube defects and the role of folic
acid in Lowering the Risk
acid in Lowering the Risk
PRESENTED BY
OM VERMA
ASSISTANT PROFESSOR
NEURAL TUBE DEFECTS
INTRODUCTION
The most common birth defect in India in neural
tube defect
Neural tube –
Embryonic precursor to central nervous system which
Embryonic precursor to central nervous system which
is a made up of the brain and spinal cord.
Neural tube Defect – it is a defect in the covering
of the brain and spinal cord it is called Neural tube
Defect.
According to Peter J
Sternberg
According to Sternberg
Neural tube defect it is a define as failure of
closure of the neural tube during 3rd and 4th
Week of pregnancy ( first month of
embryonic life ) it is called neural tube
defect .
defect .
According to simmons
TYPES OF
NEURAL TUBE DEFECT
There are 3 types of neural tube defect :-
1. Anencephaly
2. Encephalocele
2. Encephalocele
3. Spina Bifida
1. ANENCEPHALY :-
Anencephaly is a serious birth defect in which a baby is born
without parts of the brain and skull. Anencephaly is a defect in
the formation of a baby's neural tube during development. It is
a type of neural tube defect , it occurs when the head end of
a type of neural tube defect , it occurs when the head end of
the neural tube fails to close .it is characterized by the
absence of a major portion of the brain and skull .infants either
die with in the uterus /die with in the few hours or days after
birth.
Encephalocele happens when the
neural tube does not close completely
2. ENCEPHALOCELE
neural tube does not close completely
during pregnancy. It is a neural tube
defect characterized by Sac like
protrusion of the brain through the
opening in the skull.
ENCEPHALOCELE
sac-like protrusions of the brain and the
membranes that cover it through
openings in the skull.
3. SPINA BIFIDA
A birth defect in which a developing baby's spinal cord
fails to develop properly.
It occurs when a developing baby's spinal cord fails to
It occurs when a developing baby's spinal cord fails to
develop or close properly while in the fetus.
Symptoms can sometimes be seen on the skin above
the spinal defect. They include an abnormal tuft of hair,
a birthmark or protruding spinal cord tissue.
Abnormal
opening in the
vertebral
column is called
spina bifida
Their 3 types of spina bifida
1. Spina bifida oculta
2. Meningocele
2. Meningocele
3. Meningomyelocele
1. SPINA BIFIDA OCULTA
Spina bifida occulta (SBO) is a common malformation of the
spine. It occurs during a baby's development in its mother's uterus
, Spina bifida occulta is when a baby's backbone (spine) does
not fully form during pregnancy. The baby is born with a small
gap in the bones of the spine. It is most common neural tube
gap in the bones of the spine. It is most common neural tube
defect which involves the spinal cord .it is caused by failure
of the closure of lower portions of the neural tube .and visible
sign is a dimple in the skin of the area or tuft of hair are
present.
2. MENINGOCELE
Meninges and C.S.F. Are out from the defect
and these are the covered by the a
transparent membrane . A meningocele is a
transparent membrane . A meningocele is a
birth defect where there is a sac protruding from
the spinal column. no nerve damage.
3. MENINGOMYELOCELE
Myelomeningocele is an NTD in which the bones of the
spine do not completely form. This results in an
incomplete spinal canal. The spinal cord and meninges
incomplete spinal canal. The spinal cord and meninges
protrude from the child's back. myelomeningocele, part
of their spinal cord and nerves are in the sac and are
damaged
ETIOLOGY
ETIOLOGY
GENETIC FACTOR –
Caused by a combination of multiple
genes. neural tube defects can be
caused by genes passed on from both
caused by genes passed on from both
parents (inherited). And genetic
material abnormality present in both
parents.
MATERNAL NUTRITION
(including folic acid deficiency) during
pregnancy poor diets lacking in key nutrients – like
iodine, iron, folate, calcium and zinc – can cause
anaemia, pre-eclampsia, haemorrhage and
anaemia, pre-eclampsia, haemorrhage and
death in mothers. They can also lead to stillbirth,
low birthweight, wasting and developmental delays
for fetus ,and neural tube defect.
ENVIRONMENTAL FACTORS
That affect fetal development
Smoking.
Metals.
Inhalational Anesthetics.
Inhalational Anesthetics.
Organic Solvents.
Air Pollution.
Pesticide Workers.
Radiation.
Stress.
POOR INTAKE FOLIC ACID
Within the first 28 days of pregnancy, the neural
tube, which is responsible for the development
of the brain and spine, closes. Inadequate
of the brain and spine, closes. Inadequate
concentrations of folate can prevent closure
of the neural tube, which can lead to a neural
tube defect.
OBESE WOMEN
More severe obesity carried a higher risk of birth
defects, it's possible that health problems
related to excess weight such as abnormal
related to excess weight such as abnormal
metabolism, increased sensitivity to the
hormone insulin and impaired vascular
function all might play a role to lead fetus NTD,
ANTIEPILEPTIC DRUGS (AED)
Antiepileptic drugs have chronic teratogenic effects,
the most common of which are congenital heart
disease, cleft lip/palate, and neural tube defects.
Valproate and carbamazepine include minor
Valproate and carbamazepine include minor
anomalies, major congenital malformations,
intrauterine growth retardation, cognitive
dysfunction, low IQ, microcephaly, and infant
mortality.
spine
o Fetal karyotyping
Alpha Fetoprotein In Amniotic Fluid And
Maternal Serum Test
AFP test is a test that is mainly used to measure the
level of alpha-fetoprotein (AFP) in the blood of a
level of alpha-fetoprotein (AFP) in the blood of a
pregnant person. The test checks the baby's risk for
having certain genetic problems and birth defects.
such as neural tube defects or Down syndrome
ACETYLCHOLINESTERASE (AChE) TEST
Raised specific acetyl-cholinesterase
(AChE) activity in amniotic fluid was
consistently found to be associated with
consistently found to be associated with
fetal intrauterine death and neural tube
defects,
FETAL KARYOTYPING TEST
This test can help identify genetic
problems as the cause of a disorder or
disease. Karyotyping is a test used to
identify chromosome abnormalities as
identify chromosome abnormalities as
the cause of malformation or disease.
The test can be performed on a sample
of blood, bone marrow, amniotic fluid, or
placental tissue.
Fetal (prenatal) ultrasound:
An ultrasound during pregnancy is the most
accurate method to diagnose several NTDs.
Healthcare providers typically recommend
Healthcare providers typically recommend
ultrasounds during the first trimester (11 to 14
weeks of pregnancy) and second
trimester (18 to 22 weeks of pregnancy).
Amniocentesis:
Healthcare providers use this test to check for
NTDs and other birth defects. During
amniocentesis, they use a needle to remove
amniocentesis, they use a needle to remove
a sample of fluid from the amniotic sac that
surrounds te fetus. You can get this test at 15
to 20 weeks of pregnancy. This test carries
certain risks
Management
There is no cure for neural tube defects.
The nerve damage and loss of function that
The nerve damage and loss of function that
are present at birth are usually permanent.
But some management for some birth
defect.
Folate (folic acid) deficiency:
Folate, the natural form of vitamin B-9, is important
for healthy fetal development. A folate deficiency
before and during pregnancy increases the risk of
having a baby with spina bifida and other NTDs. The
having a baby with spina bifida and other NTDs. The
Centers for Disease Control and Prevention (CDC)
recommends all people who can become pregnant
take 400 micrograms (mcg) of folic acid every day, in
addition to eating food with folate, to help prevent
NTDs.
Surgical management
Surgery for Neural Tube Defects
If the child's spinal cord is exposed to the skin, early
surgical repair is essential to prevent infection and
surgical repair is essential to prevent infection and
neurological deficits. Protrusion of sac can be closed
surgically after which assessment of growth and
development should be continued .
Prevention: To prevent the first occurrence of neural tube
defects, all women planning a pregnancy should adopt the
following:
1. Diet of women planning a pregnancy should be supplemented with folic acid.
2. Processed food such as bread, cereals, flour and other grains product
which are fortified with folic acid should be used.
3. Consume more folate rich foods and avoid overcooking which destroy the
folic acid.
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Neural tube defects and the role of folic acid in Lowering the Risk.pdf

  • 1. GRACIOUS COLLEGE OF NURSING RAIPUR C.G. Neural tube defects and the role of folic acid in Lowering the Risk acid in Lowering the Risk PRESENTED BY OM VERMA ASSISTANT PROFESSOR
  • 3. INTRODUCTION The most common birth defect in India in neural tube defect Neural tube – Embryonic precursor to central nervous system which Embryonic precursor to central nervous system which is a made up of the brain and spinal cord. Neural tube Defect – it is a defect in the covering of the brain and spinal cord it is called Neural tube Defect.
  • 6. Neural tube defect it is a define as failure of closure of the neural tube during 3rd and 4th Week of pregnancy ( first month of embryonic life ) it is called neural tube defect . defect . According to simmons
  • 8. There are 3 types of neural tube defect :- 1. Anencephaly 2. Encephalocele 2. Encephalocele 3. Spina Bifida
  • 9. 1. ANENCEPHALY :- Anencephaly is a serious birth defect in which a baby is born without parts of the brain and skull. Anencephaly is a defect in the formation of a baby's neural tube during development. It is a type of neural tube defect , it occurs when the head end of a type of neural tube defect , it occurs when the head end of the neural tube fails to close .it is characterized by the absence of a major portion of the brain and skull .infants either die with in the uterus /die with in the few hours or days after birth.
  • 10.
  • 11. Encephalocele happens when the neural tube does not close completely 2. ENCEPHALOCELE neural tube does not close completely during pregnancy. It is a neural tube defect characterized by Sac like protrusion of the brain through the opening in the skull.
  • 12. ENCEPHALOCELE sac-like protrusions of the brain and the membranes that cover it through openings in the skull.
  • 13. 3. SPINA BIFIDA A birth defect in which a developing baby's spinal cord fails to develop properly. It occurs when a developing baby's spinal cord fails to It occurs when a developing baby's spinal cord fails to develop or close properly while in the fetus. Symptoms can sometimes be seen on the skin above the spinal defect. They include an abnormal tuft of hair, a birthmark or protruding spinal cord tissue.
  • 14.
  • 16. Their 3 types of spina bifida 1. Spina bifida oculta 2. Meningocele 2. Meningocele 3. Meningomyelocele
  • 17.
  • 18. 1. SPINA BIFIDA OCULTA Spina bifida occulta (SBO) is a common malformation of the spine. It occurs during a baby's development in its mother's uterus , Spina bifida occulta is when a baby's backbone (spine) does not fully form during pregnancy. The baby is born with a small gap in the bones of the spine. It is most common neural tube gap in the bones of the spine. It is most common neural tube defect which involves the spinal cord .it is caused by failure of the closure of lower portions of the neural tube .and visible sign is a dimple in the skin of the area or tuft of hair are present.
  • 19. 2. MENINGOCELE Meninges and C.S.F. Are out from the defect and these are the covered by the a transparent membrane . A meningocele is a transparent membrane . A meningocele is a birth defect where there is a sac protruding from the spinal column. no nerve damage.
  • 20. 3. MENINGOMYELOCELE Myelomeningocele is an NTD in which the bones of the spine do not completely form. This results in an incomplete spinal canal. The spinal cord and meninges incomplete spinal canal. The spinal cord and meninges protrude from the child's back. myelomeningocele, part of their spinal cord and nerves are in the sac and are damaged
  • 22.
  • 23. GENETIC FACTOR – Caused by a combination of multiple genes. neural tube defects can be caused by genes passed on from both caused by genes passed on from both parents (inherited). And genetic material abnormality present in both parents.
  • 24. MATERNAL NUTRITION (including folic acid deficiency) during pregnancy poor diets lacking in key nutrients – like iodine, iron, folate, calcium and zinc – can cause anaemia, pre-eclampsia, haemorrhage and anaemia, pre-eclampsia, haemorrhage and death in mothers. They can also lead to stillbirth, low birthweight, wasting and developmental delays for fetus ,and neural tube defect.
  • 25. ENVIRONMENTAL FACTORS That affect fetal development Smoking. Metals. Inhalational Anesthetics. Inhalational Anesthetics. Organic Solvents. Air Pollution. Pesticide Workers. Radiation. Stress.
  • 26. POOR INTAKE FOLIC ACID Within the first 28 days of pregnancy, the neural tube, which is responsible for the development of the brain and spine, closes. Inadequate of the brain and spine, closes. Inadequate concentrations of folate can prevent closure of the neural tube, which can lead to a neural tube defect.
  • 27. OBESE WOMEN More severe obesity carried a higher risk of birth defects, it's possible that health problems related to excess weight such as abnormal related to excess weight such as abnormal metabolism, increased sensitivity to the hormone insulin and impaired vascular function all might play a role to lead fetus NTD,
  • 28. ANTIEPILEPTIC DRUGS (AED) Antiepileptic drugs have chronic teratogenic effects, the most common of which are congenital heart disease, cleft lip/palate, and neural tube defects. Valproate and carbamazepine include minor Valproate and carbamazepine include minor anomalies, major congenital malformations, intrauterine growth retardation, cognitive dysfunction, low IQ, microcephaly, and infant mortality.
  • 29.
  • 30. spine
  • 32. Alpha Fetoprotein In Amniotic Fluid And Maternal Serum Test AFP test is a test that is mainly used to measure the level of alpha-fetoprotein (AFP) in the blood of a level of alpha-fetoprotein (AFP) in the blood of a pregnant person. The test checks the baby's risk for having certain genetic problems and birth defects. such as neural tube defects or Down syndrome
  • 33. ACETYLCHOLINESTERASE (AChE) TEST Raised specific acetyl-cholinesterase (AChE) activity in amniotic fluid was consistently found to be associated with consistently found to be associated with fetal intrauterine death and neural tube defects,
  • 34. FETAL KARYOTYPING TEST This test can help identify genetic problems as the cause of a disorder or disease. Karyotyping is a test used to identify chromosome abnormalities as identify chromosome abnormalities as the cause of malformation or disease. The test can be performed on a sample of blood, bone marrow, amniotic fluid, or placental tissue.
  • 35. Fetal (prenatal) ultrasound: An ultrasound during pregnancy is the most accurate method to diagnose several NTDs. Healthcare providers typically recommend Healthcare providers typically recommend ultrasounds during the first trimester (11 to 14 weeks of pregnancy) and second trimester (18 to 22 weeks of pregnancy).
  • 36. Amniocentesis: Healthcare providers use this test to check for NTDs and other birth defects. During amniocentesis, they use a needle to remove amniocentesis, they use a needle to remove a sample of fluid from the amniotic sac that surrounds te fetus. You can get this test at 15 to 20 weeks of pregnancy. This test carries certain risks
  • 37. Management There is no cure for neural tube defects. The nerve damage and loss of function that The nerve damage and loss of function that are present at birth are usually permanent. But some management for some birth defect.
  • 38.
  • 39. Folate (folic acid) deficiency: Folate, the natural form of vitamin B-9, is important for healthy fetal development. A folate deficiency before and during pregnancy increases the risk of having a baby with spina bifida and other NTDs. The having a baby with spina bifida and other NTDs. The Centers for Disease Control and Prevention (CDC) recommends all people who can become pregnant take 400 micrograms (mcg) of folic acid every day, in addition to eating food with folate, to help prevent NTDs.
  • 40. Surgical management Surgery for Neural Tube Defects If the child's spinal cord is exposed to the skin, early surgical repair is essential to prevent infection and surgical repair is essential to prevent infection and neurological deficits. Protrusion of sac can be closed surgically after which assessment of growth and development should be continued .
  • 41.
  • 42.
  • 43. Prevention: To prevent the first occurrence of neural tube defects, all women planning a pregnancy should adopt the following: 1. Diet of women planning a pregnancy should be supplemented with folic acid. 2. Processed food such as bread, cereals, flour and other grains product which are fortified with folic acid should be used. 3. Consume more folate rich foods and avoid overcooking which destroy the folic acid.