Alpha feto protein (AFP) is the first α – globulin to appear in human sera during development of the embryo. It contains approximately 4% carbohydrate with molecular mass of approximately 70, 000 Kilo Dalton; AFP is Synthesize primary by the fetal yolk and liver. Spina bifida, which literally means “cleft spine,” is characterized by the incomplete development of the brain, spinal cord, and/or meninges. There are three main types: spina bifida occulta, meningocele, and myelomeningocele. Causes of spina bifida can be either Genetic or multifactorial. Laboratory diagnosis includes Alpha feto protein assay, Amniocentesis and ultrasound. Management of spina bifida includes folic acid intake and surgery.
Best Rate (Hyderabad) Call Girls Jahanuma ⟟ 8250192130 ⟟ High Class Call Girl...
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.
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