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A SEMINAR ON
ALPHA FETO PROTEIN: A BIO-MARKER FOR SPINA BIFIDA ( NEURAL
TUBE DEFECT)
BY
MLS. LOKOJA EBIWENI JAMES
TO
THE DEPARTMENT OF CHEMICAL PATHOLOGY, MEDICAL LABORATORY
SERVICES
FEDERAL MEDICAL CENTRE, YENAGOA BAYELSA STATE NIGERIA.
OUTLINE
 Introduction
 Epidemiology
 Types Of Spinal Bifida
 Pathophysiology
 Aetiology of Spina Bifida
 Signs And Symptoms
 Risk Factors
 Complication
 Diagnosis
 Management
 Conclusion
 Recommendations
INTRODUCTION
 Alpha feto protein
 First α – globulin to appear in mammalian
sera during development of the embryo.
 Contains approximately 4% carbohydrate
with molecular mass of approximately
70,000 Kda
 Synthesize primary by the fetal yolk and
liver
 Spinal bifida: Spina bifida, which literally
means “cleft spine,” is characterized by the
incomplete development of the brain, spinal
cord, and/or meninges
(Cotton , 1993).
EPIDEMIOLOGY
 It is among the most common
severe birth defects in the United
States.
 Affecting 1,500 to 2,000 babies
(one in every 4,000 live births)
each year.
 Highest incidence rates worldwide
were found in Ireland and Wales
 Slightly higher in females than in
males (1.2:1)
(Cotton , 1993).
TYPES OF SPINA BIFIDA
OCCULTA:
 Is the mildest and most common
form in which one or more vertebrae
are malformed.
 The name “occulta,” which means
“hidden,” indicates that the
malformation, or opening in the spine,
is covered by a layer of skin.
 This form of spina bifida rarely
causes disability or symptoms. (Iwamoto et al., 2005).
TYPES OF SPINA BIFIDA
MENINGOCELE :
 Meninges protrude from the spinal
opening, and the malformation may or
may not be covered by a layer of skin.
 Some patients with meningocele may
have few or no symptoms while others
may experience symptoms similar to
closed neural tube defects.
(Iwamoto et al., 2005).
TYPES OF SPINA BIFIDA
MYELOMENINGOCELE
 The most severe and occurs when
the spinal cord is exposed through
the opening in the spine, resulting in
partial or complete paralysis of the
parts of the body below the spinal
opening.
 The paralysis may be so severe that
the affected individual is unable to
walk and may have urinary and
bowel dysfunction.
(Iwamoto et al., 2005)
PATHOPHYSIOLOGY
 Specific folates deficiency at the cellular level is responsible for
NTDs due to disturbed folates bioavailability.
 Autoantibodies binding folate receptors and blocking the cellular
uptake of folates have been described more frequently in women
with NTDs affected fetuses.
 Inactivation of the gene FOLR1 coding for a protein involved in
folate transport in neuroepithelial, neural crest and visceral
endoderm cells results in neural tube, heart and cranial structure
malformations
(Rothenberg et al., 2004).
PATHOPHYSIOLOGY
(Holmes, 1988).
AETIOLOGY OF SPINA
BIFIDA
 The exact cause of spina bifida
remains a mystery.
 Genetic
 Multifactorial
(De-Regil et al., 2010).
SIGNS AND SYMPTOMS
 Leg weakness and paralysis
 Orthopedic abnormalities (i.e., club
foot, hip dislocation, scoliosis)
 Bladder and bowel control
problems, including incontinence,
urinary tract infections, and poor
kidney function
 Pressure sores and skin irritations
 Abnormal eye movement (Mitchell et al., 2004).
RISK FACTORS
 Race. Spina bifida is more common among Hispanics and whites of European
descent.
 Family history of neural tube defects
 Folic acid deficiency
 Some medications. Anti-seizure medications, such as valproic acid (Depakene),
 Diabetes. The risk of spina bifida increases with diabetes, especially when the
mother's blood sugar is elevated early in her pregnancy.
 Obesity
 Increased body temperature. Some evidence suggests that increased body
temperature (hyperthermia) in the early months of pregnancy may increase the risk
of spina bifida.
(Mitchell et al., 2004).
COMPLICATIONS
Both meninges and spinal cord protrude
into the skin of the back
Leak of cerebrospinal fluid (CSF) is
common
Severe neurological defects are common
Risk for bacterial meningitis
Paraplegia
Diminished control of lower limbs,
bladder and bowel
Hydrocephalus often accompanies
Short stature and precocious puberty
Hydrocephalus
Paraplegia
(Ausili et al., 2007).
DIAGNOSIS
 Ultrasound: An advanced
ultrasound detect signs of spina
bifida.
 Amniocentesis
An analysis indicates the level of
AFP present in the amniotic fluid.
 Materna serum alpha feto
protein assay
( Adzick, 2013 ).
COMPARING THE DIFFERENT
PREGNANCY HORMONES
MANAGEMENT
 The nerve tissue that is damaged or lost
cannot be repaired or replaced.
 Dosage:400 micrograms of folic acid
daily.
 Foods high in folic acid include dark
green vegetables, egg yolks, and some
fruits.
 Surgery
(Mulinare et al., 1988).
CONCLUSION
Neural tube defects are associated with
considerable morbidity and are also a major
cause of perinatal mortality
RECOMMENDATIONS
 Future studies should be directed at unraveling
the possible interaction or combinations of
causes of NTD and effective preventive
strategies.
 FMC yenagoa should carry out Alpha feto
protein assay as part of pre-antenatal care for
pregnant women
ALPHA FETO PROTEIN: A BIOMAKER OF SPINA BIFIA

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ALPHA FETO PROTEIN: A BIOMAKER OF SPINA BIFIA

  • 1. A SEMINAR ON ALPHA FETO PROTEIN: A BIO-MARKER FOR SPINA BIFIDA ( NEURAL TUBE DEFECT) BY MLS. LOKOJA EBIWENI JAMES TO THE DEPARTMENT OF CHEMICAL PATHOLOGY, MEDICAL LABORATORY SERVICES FEDERAL MEDICAL CENTRE, YENAGOA BAYELSA STATE NIGERIA.
  • 2. OUTLINE  Introduction  Epidemiology  Types Of Spinal Bifida  Pathophysiology  Aetiology of Spina Bifida  Signs And Symptoms  Risk Factors  Complication  Diagnosis  Management  Conclusion  Recommendations
  • 3. INTRODUCTION  Alpha feto protein  First α – globulin to appear in mammalian sera during development of the embryo.  Contains approximately 4% carbohydrate with molecular mass of approximately 70,000 Kda  Synthesize primary by the fetal yolk and liver  Spinal bifida: Spina bifida, which literally means “cleft spine,” is characterized by the incomplete development of the brain, spinal cord, and/or meninges (Cotton , 1993).
  • 4. EPIDEMIOLOGY  It is among the most common severe birth defects in the United States.  Affecting 1,500 to 2,000 babies (one in every 4,000 live births) each year.  Highest incidence rates worldwide were found in Ireland and Wales  Slightly higher in females than in males (1.2:1) (Cotton , 1993).
  • 5. TYPES OF SPINA BIFIDA OCCULTA:  Is the mildest and most common form in which one or more vertebrae are malformed.  The name “occulta,” which means “hidden,” indicates that the malformation, or opening in the spine, is covered by a layer of skin.  This form of spina bifida rarely causes disability or symptoms. (Iwamoto et al., 2005).
  • 6. TYPES OF SPINA BIFIDA MENINGOCELE :  Meninges protrude from the spinal opening, and the malformation may or may not be covered by a layer of skin.  Some patients with meningocele may have few or no symptoms while others may experience symptoms similar to closed neural tube defects. (Iwamoto et al., 2005).
  • 7. TYPES OF SPINA BIFIDA MYELOMENINGOCELE  The most severe and occurs when the spinal cord is exposed through the opening in the spine, resulting in partial or complete paralysis of the parts of the body below the spinal opening.  The paralysis may be so severe that the affected individual is unable to walk and may have urinary and bowel dysfunction. (Iwamoto et al., 2005)
  • 8. PATHOPHYSIOLOGY  Specific folates deficiency at the cellular level is responsible for NTDs due to disturbed folates bioavailability.  Autoantibodies binding folate receptors and blocking the cellular uptake of folates have been described more frequently in women with NTDs affected fetuses.  Inactivation of the gene FOLR1 coding for a protein involved in folate transport in neuroepithelial, neural crest and visceral endoderm cells results in neural tube, heart and cranial structure malformations (Rothenberg et al., 2004).
  • 10. AETIOLOGY OF SPINA BIFIDA  The exact cause of spina bifida remains a mystery.  Genetic  Multifactorial (De-Regil et al., 2010).
  • 11. SIGNS AND SYMPTOMS  Leg weakness and paralysis  Orthopedic abnormalities (i.e., club foot, hip dislocation, scoliosis)  Bladder and bowel control problems, including incontinence, urinary tract infections, and poor kidney function  Pressure sores and skin irritations  Abnormal eye movement (Mitchell et al., 2004).
  • 12. RISK FACTORS  Race. Spina bifida is more common among Hispanics and whites of European descent.  Family history of neural tube defects  Folic acid deficiency  Some medications. Anti-seizure medications, such as valproic acid (Depakene),  Diabetes. The risk of spina bifida increases with diabetes, especially when the mother's blood sugar is elevated early in her pregnancy.  Obesity  Increased body temperature. Some evidence suggests that increased body temperature (hyperthermia) in the early months of pregnancy may increase the risk of spina bifida. (Mitchell et al., 2004).
  • 13. COMPLICATIONS Both meninges and spinal cord protrude into the skin of the back Leak of cerebrospinal fluid (CSF) is common Severe neurological defects are common Risk for bacterial meningitis Paraplegia Diminished control of lower limbs, bladder and bowel Hydrocephalus often accompanies Short stature and precocious puberty Hydrocephalus Paraplegia (Ausili et al., 2007).
  • 14. DIAGNOSIS  Ultrasound: An advanced ultrasound detect signs of spina bifida.  Amniocentesis An analysis indicates the level of AFP present in the amniotic fluid.  Materna serum alpha feto protein assay ( Adzick, 2013 ).
  • 16. MANAGEMENT  The nerve tissue that is damaged or lost cannot be repaired or replaced.  Dosage:400 micrograms of folic acid daily.  Foods high in folic acid include dark green vegetables, egg yolks, and some fruits.  Surgery (Mulinare et al., 1988).
  • 17. CONCLUSION Neural tube defects are associated with considerable morbidity and are also a major cause of perinatal mortality
  • 18. RECOMMENDATIONS  Future studies should be directed at unraveling the possible interaction or combinations of causes of NTD and effective preventive strategies.  FMC yenagoa should carry out Alpha feto protein assay as part of pre-antenatal care for pregnant women