Spina Bifida

指導:洪正修主任
報告:邱士芸
 Case-basic data
Name:黃女士
Age: 34 y/o
G2P1( twins)
Previous pregnant history:
Pregnancy 34 weeks with twins s/p C/S
2000g and 1700 g
No other systemic disease.
 Current condition
Pregnancy 35+4 weeks with twins
Transfer from VGHTC
One fetus—spina bifida
 Spina Bifida
The human nervous system develops from a
small, specialized plate of cells along the back of
an embryo.
Early in development, the edges of this plate
begin to curl up toward each other, creating the
neural tube—a narrow sheath that closes to form
the brain and spinal cord of the embryo.
the top of the tube becomes the brain and the
remainder becomes the spinal cord.
This process is usually complete by the
28th day of pregnancy.
But if problems occur during this process,
the result can be brain disorders called
neural tube defects, including spina bifida.
 What is spina bifida?
Spina bifida, which literally means “cleft spine,”
is characterized by the incomplete development
of the brain, spinal cord, and/or meninges.
Spina bifida is one of the more common birth
defects in the United States.
It is among the most common severe birth
defects in the United States, affecting 1,500 to
2,000 babies (one in every 2,000 live births)
each year.
the different 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.
Closed neural tube defects make up the
second type of spina bifida.
This form consists of a diverse group of spinal
defects in which the spinal cord is marked by a
malformation of fat, bone, or membranes.
In some patients there are few or no symptoms;
in others the malformation causes incomplete
paralysis with urinary and bowel dysfunction.
meningocele :the 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.
Myelomeningocele :is 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.
 What causes spina bifida?
The exact cause of spina bifida remains a
mystery.
No one knows what disrupts complete closure of
the neural tube, causing a malformation to
develop.
Scientists suspect genetic, nutritional, and
environmental factors play a role.
it appears to result from a combination of genetic
and environmental risk factors, such as a family
history of neural tube defects, folic acid
deficiency and medical conditions such as
diabetes and obesity.
 Risk factors
Race. Spina bifida is more common among Hispanics
and whites of European descent.
Family history of neural tube defects. Couples who've
had one child with a neural tube defect have a slightly
higher chance of having another baby with the same
defect. That risk increases if two previous children have
been affected by the condition. In addition, a woman who
was born with a neural tube defect, or who has a close
relative with one, has a greater chance of giving birth to
a child with spina bifida. However, most babies with
spina bifida are born to parents with no known family
history of the condition.
Folic acid deficiency. This vitamin is important
to the healthy development of a fetus. Lack of
folic acid (vitamin B-9) increases the risk of
spina bifida and other neural tube defects.
Some medications. Anti-seizure medications,
such as valproic acid (Depakene), seem to
cause neural tube defects when taken during
pregnancy, perhaps because they interfere with
the body's ability to use folic acid.
Diabetes. The risk of spina bifida increases with
diabetes, especially when the mother's blood
sugar is elevated early in her pregnancy. Much
of this risk is preventable by careful blood sugar
control and management.
Obesity. There's a link between pre-pregnancy
obesity and neural tube birth defects, including
spina bifida. Obese women may have more
babies with spina bifida possibly because of
nutritional deficits from poor eating habits or
because they may have diabetes.
Increased body temperature. Some
evidence suggests that increased body
temperature (hyperthermia) in the early
months of pregnancy may increase the
risk of spina bifida.
 Complications
Factors that affect the severity of complications
include:
The size and location of the neural tube defect .
Whether skin covers the affected area
Whether spinal nerves come out of the affected
area of the spinal cord.
Children with myelomeningocele may
experience physical and neurological problems,
including lack of normal bowel and bladder
control, and partial or complete paralysis of their
legs.
Babies born with myelomeningocele also
commonly experience accumulation of fluid in
the brain, a condition known as hydrocephalus.
Most babies with myelomeningocele will need a
shunt .
The majority of newborns with
myelomeningocele survive.
some may develop meningitis, an infection in the
tissues surrounding the brain
Children with myelomeningocele may
develop learning disabilities.
Children with spina bifida may also suffer
from latex allergies, skin problems, urinary
tract infections, gastrointestinal disorders,
seizure disorders, depression, and social
and emotional problems.
 Screening and diagnosis
(1)Blood tests
second trimester maternal serum alpha
fetoprotein (MSAFP)
alpha-fetoprotein (AFP) is made naturally by the
fetus and placenta.
But if abnormally high levels of this protein
appear in the mother’s bloodstream it may
indicate that the fetus has a neural tube defect.
The MSAFP test, however, is not specific for
spina bifida.
Ultrasound: An advanced ultrasound can also detect
signs of spina bifida.
Amniocentesis
An analysis indicates the level of AFP present in the
amniotic fluid.
A small amount of AFP is normally found in amniotic fluid.
when an open neural tube defect is present, the amniotic
fluid contains an elevated amount of AFP because the
skin surrounding the baby's spine is gone and AFP leaks
into the amniotic sac.
MRI
 Treatment
There is no cure for spina bifida.
The nerve tissue that is damaged or lost
cannot be repaired or replaced.
Treatment depends on the type and
severity of the disorder.
children with the mild form need no
treatment .
The key priorities for treating
myelomeningocele are to prevent infection
from developing through the exposed
nerves and tissue of the defect on the
spine, and to protect the exposed nerves
and structures from additional trauma.
Doctors have recently begun performing
fetal surgery for treatment of
myelomeningocele.
Fetal surgery involves opening the mother’s
abdomen and uterus and sewing shut the
opening over the developing baby’s spinal cord.
They believe the earlier the defect is corrected,
the better the outcome is for the baby.
Still, the benefits of fetal surgery are promising,
and include less exposure of the vulnerable
spinal nerve tissue and bones to the intrauterine
environment, in particular the amniotic fluid,
which is considered toxic.
Early surgery on the spinal cord may allow the
child to regain a normal level of functioning and
prevent further neurological deterioration.
Some children will need subsequent surgeries to
manage problems with the feet, hips, or spine.
Individuals with hydrocephalus generally will
require additional surgeries to replace the shunt
Some individuals with spina bifida require
assistive devices such as braces, crutches, or
wheelchairs. The location of the
malformation on the spine often indicates the
type of assistive devices needed.
Treatment for paralysis and bladder and
bowel problems typically begins soon after
birth
 Prevention
Folic acid is an important vitamin in the
development of a healthy fetus.
Recent studies have shown that by adding folic
acid to their diets, women of childbearing age
significantly reduce the risk of having a child with
a neural tube defect, such as spina bifida.
Dosage:400 micrograms of folic acid daily
Foods high in folic acid include dark green
vegetables, egg yolks, and some fruits.
 prognosis
Prognosis depends on the number and
severity of abnormalities and associated
complications.