STUDENT: Trcoski Elena

SPINA BIFIDA

From latin: "split spine" is a developmental congenital disorder caused by the
incomplete closing of the embryonic neural tube. Some vertebrae overlying the spinal cord are
not fully formed and remain unfused and open. If the opening is large enough, this allows a
portion of the spinal cord to protrude through the opening in the bones. There may or may not be
a fluid-filled sac surrounding the spinal cord. Other neural tube defects include anencephaly, a
condition in which the portion of the neural tube that will become the cerebrum does not close,
and encephalocele, which results when other parts of the brain remain unfused.
Spina bifida malformations fall into three categories: spina bifida occulta, spina bifida
cystica with meningocele, and spina bifida cystica with myelomeningocele. The most common
location of the malformations is the lumbar and sacral areas. Myelomeningocele is the most
significant and common form, and this leads to disability in most affected individuals. The terms
spina bifida and myelomeningocele are usually used interchangeably.

Spina bifida can be surgically closed after birth, but this does not restore normal
function to the affected part of the spinal cord.Intrauterine surgery for spina bifida has also been
performed, and the safety and efficacy of this procedure are currently being investigated. A study
conducted with mothers who had prior spina bifida births indicates the incidence of spina bifida
can be decreased by up to 70% when the mother takes daily folic acid supplements prior
to conception.
Spina bifida is one of the most common birth defects, with a worldwide incidence of
about 1 in every 1000 births.

Classification:
Spina bifida occulta
Occulta is Latin for "hidden". This is the mildest form of spina bifida. In occulta, the
outer part of some of the vertebrae is not completely closed.The splits in the vertebrae are so
small that the spinal cord does not protrude. The skin at the site of the lesion may be normal, or it
may have some hair growing from it; there may be a dimple in the skin, or a birthmark.
Many people with this type of spina bifida do not even know they have it, as the
condition is asymptomatic in most cases. The incidence of spina bifida occulta is approximately
10-20% of the population, and most people are diagnosed incidentally from spinal X-rays. A
systematic review of radiographic research studies found no relationship between spina bifida
occulta and back pain. More recent studies not included in the review support the negative
findings.
However, other studies suggest spina bifida occulta is not always harmless. One study
found, among patients with back pain, severity is worse if spina bifida occulta is present. To
prevent confusion with true spina bifida and spina bifida occulta, incomplete posterior fusion is
the correct terminology when discussing as incomplete posterior fusion is incidental finding that
is very rarely of neurological significance and is not a true spina bifida.


Spina Bifida Occulta is a mild form of Spina Bifida
Spina Bifida Occulta (SBO) is a group of conditions affecting the spinal column. The
spinal column is made of bones, called vertebrae. They support the body and protect a large
group of nerves, called the spinal cord. The spinal cord carries nerve signals from the body to the
brain.
SBO is common; 10 to 20 percent of healthy people have it. Normally it is safe and
people often find out they have it through an X-ray. Spina Bifida Occulta usually doesnt cause
nervous system problems.

Forms of Occulta:
There are forms of Spina Bifida Occulta that do cause problems though. They are:
Lipomyelomeningocele and lipomeningocele this is like a tethered spinal cord, except it is
attached to a benign fatty tumor;
Thickened filum terminale the end of the spinal cord is too thick;
Fatty filum terminale there is a fatty lump at the inside end of the spinal cord;
Diastematomyelia (split spinal cord) and diplomyelia the spinal cord is split in two, usually by
a piece of bone or cartilage; and
Dermal sinus tract (with involvement of the spinal cord) the spinal canal and the skin of the
back are connected by what looks like a band of tissue.

X ray image of a pelvis of a 16 year old female with Spina Bifida occulta in S-1

Meningocele
A posterior meningocele (pronounced /mnsil/) or meningeal cyst
(pronounced /mnndil/ /sst/) is the least common form of spina bifida. In this form, the
vertebrae develop normally, but the meninges are forced into the gaps between the vertebrae. As
the nervous system remains undamaged, individuals with meningocele are unlikely to suffer
long-term health problems, although cases of tethered cord have been reported. Causes of
meningocele include teratoma and other tumors of the sacrococcyx and of thepresacral space,
and Currarino syndrome.
A meningocele may also form through dehiscences in the base of the skull. These may
be classified by their localisation to occipital, frontoethmoidal, or nasal. Endonasal meningoceles
lie at the roof of the nasal cavity and may be mistaken for a nasal polyp. They are treated
surgically. Encephalomeningoceles are classified in the same way and also contain brain tissue.


Myelomeningocele
This type of spina bifida often results in the most severe complications. In individuals
with myelomeningocele, the unfused portion of the spinal column allows the spinal cord to
protrude through an opening. The meningeal membranes that cover the spinal cord form a sac
enclosing the spinal elements.
Normally, during the first month of a pregnancy, the two sides of the spine (or
backbone) join together to cover the spinal cord, spinal nerves and meninges (the tissues
covering the spinal cord). Spina bifida refers to any birth defect involving incomplete closure of
the spine.
Myelomeningocele is the most common type of spina bifida. It is a neural tube defect
in which the bones of the spine do not completely form, resulting in an incomplete spinal canal.
This causes the spinal cord and meninges (the tissues covering the spinal cord) to stick out of the
child's back.

Myelomeningocele or meningomyelocele schematic figure :
1. External sac with cerebrospinal fluid
2. Spinal cord wedged between the vertebrae

Myelomeningocele may affect as many as 1 out of every 800 infants.
Other congenital disorders or birth defects may also be present in a child with
myelomeningocele. Hydrocephalus may affect as many as 90% of children with
myelomeningocele. Other disorders of the spinal cord or musculoskeletal system may be seen,
including syringomyelia and hip dislocation.
The cause of myelomeningocele is unknown. However, low levels of folic acid in a
woman's body before and during early pregnancy is thought to play a part in this type of birth
defect. The vitamin folic acid (or folate) is important for brain and spinal cord development.
Also, if a child is born with myelomeningocele, future children in that family have a
higher risk than the general population. However, in many cases, there is no family connection.
Some theorize that a virus make play a role, since there is a higher rate of this
condition in children born in the early winter months. Research also indicates possible
environmental factors such as radiation.





Myeloschisis
Spina bifida with myeloschisis is the most severe form of myelomeningocele. In this
type, the involved area is represented by a flattened, plate-like mass of nervous tissue with no
overlying membrane. The exposure of these nerves and tissues make the baby more prone to life-
threatening infections such as meningitis.
The protruding portion of the spinal cord and the nerves that originate at that level of
the cord are damaged or not properly developed. As a result, there is usually some degree
of paralysis and loss of sensation below the level of the spinal cord defect. Thus, the more cranial
the level of the defect, the more severe the associated nerve dysfunction and resultant paralysis
may be. People may have ambulatory problems, loss of sensation, deformities of the hips, knees
or feet, and loss of muscle tone.
EPIDEMIOLOGY:
incidence: 1-2/1000 live births (of spina bifida cystica)
age of onset:
o less than 24 days gestational age
risk factors:
o multifactorial inheritance pattern
o see "Meningocele"
PATHOGENESIS:
1. Background
o spina bifida with myeloschisis is the most severe form of spina bifida cystica
o in this defect, the neural folds fail to meet and fuse leaving the spinal cord open
and the involved area represented by a flattened, plate-like mass of nervous tissue
with no overlying skin or membrane
o the etiology is unknown but may be caused by a local overgrowth of the neural
plate during neurulation resulting in the failure of the caudal neuropore to close at
the end of the 4th week of embryogenesis
CLINICAL FEATURES:
1. Myeloschisis
o a flattened, plate-like mass of nervous tissue with no overlying skin or membrane
o ? incompatible with life
INVESTIGATIONS:
1. Imaging Studies
1. Vertebral X-Ray
to detect spinal defects
2. CT/MRI
to rule out associated anomalies
2. Prenatal Diagnosis
o elevated maternal serum alpha-fetoprotein (AFP)
o level II ultrasound
o amniocentesis - elevated AFP and acetylcholinesterase

MANAGEMENT:
1. Supportive
o genetic counselling to discuss recurrence rate
2. Prevention
o decrease the recurrence rate in patients at risk with 1 mg of folic acid daily from
the time of conception through the first trimester




Signs and symptoms
Physical complications
Physical signs of spina bifida may include:
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 renal function
Pressure sores and skin irritations
Abnormal eye movement
68% of children with spina bifida have an allergy to latex, ranging from mild to life-
threatening. The common use of latex in medical facilities makes this a particularly serious
concern. The most common approach to avoid developing an allergy is to avoid contact with
latex-containing products such as examination gloves and condoms and cathetersthat do not
specify they are latex free, and many other products, such as some commonly used by dentists.
The spinal cord lesion or the scarring due to surgery may result in a tethered spinal
cord. In some individuals, this causes significant traction and stress on the spinal cord and can
lead to a worsening of associated paralysis, scoliosis, back pain, and worsening bowel and/or
bladder function.
Spina bifida can cause a wide range of symptoms that can be grouped into three
general categories.
This includes:
cognitive symptoms, such as difficulty reading or solving problems
mobility symptoms, such as paralysis and muscle weakness
bladder and bowel symptoms, such as bowel incontinence and urinary
incontinence

The severity of the symptoms usually depends on where on the spine the opening
occurs and whether the baby also developshydrocephalus (excess fluid on the brain).
An opening at the top of the spine is more likely to cause paralysis of the lower limbs and
mobility difficulties, compared with openings in the middle or at the base of the spine. And the
baby is more likely to have learning disabilities if he or she develops hydrocephalus.

Cognitive symptoms
Problems with the development of the neural tube also affect the development of the
brain. The brain may not develop properly, leading to learning and other cognitive problems.
The cortex (the outside layers of the brain) may be thinner than usual, leading to
difficulties with memory, organisation and concentration. The cerebellum may also be affected.
It is the part of the brain thought to be responsible for important cognitive functions including
language processing and physical co-ordination.
Abnormal brain development may also include a type 2 Arnold-Chiari malformation,
where lower parts of the brain are pushed downwards towards the spinal cord.
Further brain damage can occur if hydrocephalus places excess pressure on the brain.
About six out of 10 children with spina bifida will have normal intelligence, although
just over half of these will have some type of learning disability, such as:
a short attention span
difficulty solving problems
difficulty reading
difficulty understanding some spoken language, particularly fast conversations
between a group of people
difficulty organising activities or making detailed plans
difficulty with visual and physical co-ordination, for example tasks such as tying
shoelaces or fastening buttons

Mobility symptoms
The brain controls all the muscles in the body with the nerves that run through the
spinal cord. Any damage to the nerves can result in problems controlling the muscles.
Most children with spina bifida will experience some degree of paralysis in their lower limbs. If
a child with spina bifida is partially paralysed, they may need to use ankle supports or crutches to
help with their mobility. In cases of more severe paralysis, the child will require a wheelchair.
Paralysis can also cause other, associated problems. For example, as the muscles in
the legs are not being used regularly, they can become severely weakened. As the muscles
support the bones, this weakness can affect bone development. This can result in:
dislocated joints
misshapen bones
abnormal curvature of the spine (scoliosis)


Spina Bifida and Scoliosis




Spina Bifida patient with a typical lumbar scoliosis deformity




Bowel and bladder symptoms
As well as controlling your limbs, the nerves that run through your spinal cord also
control your bowel and bladder. They help to control the muscles that keep urine in the bladder
and stools in the bowel (sphincter muscles). The bladder muscle may be very tight or twitchy,
and only store a little urine. If left untreated this can lead to kidney and bladder damage.
Most people with spina bifida have limited or no control over their sphincter muscles
and experience urinary and bowel incontinence without appropriate management.
Urinary incontinence can take the form of a constant slow dribble of urine from the
bladder.
If a child has bowel incontinence, they may experience periods ofconstipation (inability to empty
their bowels). This can then be followed by episodes of diarrhoea (loose, watery stools) or
soiling due to stools overflowing from the bowel.


Neurological complications
Many individuals with spina bifida have an associated abnormality of the cerebellum,
called the Arnold Chiari II malformation. In affected individuals, the back portion of the brain is
displaced from the back of the skull down into the upper neck. In about 90% of the people with
myelomeningocele, hydrocephalus also occurs because the displaced cerebellum interferes with
the normal flow of cerebrospinal fluid, causing an excess of the fluid to accumulate. In fact, the
cerebellum also tends to be smaller in individuals with spina bifida, especially for those with
higher lesion levels.
The corpus callosum is abnormally developed in 70-90% of individuals with spina
bifida myelomeningocele; this impacts the communication processes between the left and right
brain hemispheres.Further, white matter tracts connecting posterior brain regions with anterior
regions appear less organized. White matter tracts between frontal regions have also been found
to be impaired.
Cortex abnormalities may also be present. For example, frontal regions of the brain
tend to be thicker than expected, while posterior and parietal regions are thinner. Thinner
sections of the brain are also associated with increased cortical folding. Neurons within the
cortex may also be displaced.


Patophysiology
Spina bifida is sometimes caused by the failure of the neural tube to close during the
first month of embryonic development (often before the mother knows she is pregnant). Some
forms are known to occur with primary conditions that cause raised central nervous system
pressure, which raises the possibility of a dual pathogenesis
Under normal circumstances, the closure of the neural tube occurs around the 23rd
(rostral closure) and 27th (caudal closure) day after fertilization. However, if something
interferes and the tube fails to close properly, a neural tube defect will occur. Medications such
as some anticonvulsants, diabetes, having a relative with spina bifida, obesity, and an increased
body temperature from fever or external sources such as hot tubs and electric blankets may
increase the chances of delivery of a baby with a spina bifida.
Extensive evidence from mouse strains with spina bifida indicates that there is
sometimes a genetic basis for the condition. Human spina bifida, like other human diseases, such
ascancer, hypertension and atherosclerosis (coronary artery disease), likely results from the
interaction of multiple genes and environmental factors.
Research has shown the lack of folic acid (folate) is a contributing factor in the
pathogenesis of neural tube defects, including spina bifida. Supplementation of the mother's diet
with folate can reduce the incidence of neural tube defects by about 70%, and can also decrease
the severity of these defects when they occur. It is unknown how or why folic acid has this
effect.
Spina bifida does not follow direct patterns of heredity like muscular
dystrophy or haemophilia. Studies show a woman having had one child with a neural tube defect
such as spina bifida has about a 3% risk of having another child with a neural tube defect. This
risk can be reduced to about 1% if the woman takes high doses (4 mg/day) of folic acid before
and during pregnancy. For the general population, low-dose folic acid supplements are advised
(0.4 mg/day).


Prevention:
There is neither a single cause of spina bifida nor any known way to prevent it
entirely. However, dietary supplementation with folic acid has been shown to be helpful in
reducing the incidence of spina bifida. Sources of folic acid include whole grains,
fortified breakfast cereals, dried beans, leaf vegetables and fruits.
Folate fortification of enriched grain products has been mandatory in the United
States since 1998. The U.S. Food and Drug Administration, Public Health Agency of Canada and
UK recommended amount of folic acid for women of childbearing age and women planning to
become pregnant is at least 0.4 mg/day of folic acid from at least three months
before conception, and continued for the first 12 weeks of pregnancy.
Women who have already had a baby with spina bifida or other type of neural tube
defect, or are taking anticonvulsant medication should take a higher dose of 45 mg/day.
Certain mutations in the gene VANGL1 are implicated as a risk factor for spina
bifida: These mutations have been linked with spina bifida in some families with a history of
spina bifida.

Pregnancy screening:
Neural tube defects can usually be detected during pregnancy by testing the
mother's blood (AFP screening) or a detailed fetal ultrasound. Increased levels of maternal serum
alpha-fetoprotein (MSAFP) should be followed up by two tests - an ultrasound of the fetal spine
andamniocentesis of the mother's amniotic fluid (to test for alpha-
fetoprotein and acetylcholinesterase).
AFP tests are now mandated by some state laws (including California). and failure
to provide them can have legal ramifications. In one case a man born with spina bifida was
awarded a $2 million settlement after court found his

Three-dimensional ultrasound image of the fetal spine at 21 weeks of pregnancy
mother's OBGYN negligent for not performing these tests.
[49]
Spina bifida may be associated
with other malformations as in dysmorphic syndromes, often resulting in
spontaneous miscarriage. In the majority of cases, though, spina bifida is an isolated
malformation.
Genetic counseling and further genetic testing, such as amniocentesis, may be offered
during the pregnancy, as some neural tube defects are associated with genetic disorders such
as trisomy 18. Ultrasound screening for spina bifida is partly responsible for the decline in new
cases, because many pregnancies are terminated out of fear that a newborn might have a poor
future quality of life. With modern medical care, the quality of life of patients has greatly
improved.

Treatment:
There is no known cure for nerve damage caused by spina bifida. To prevent further
damage of the nervous tissue and to prevent infection, pediatric neurosurgeons operate to close
the opening on the back. The spinal cord and its nerve roots are put back inside the spine and
covered with meninges. In addition, a shunt may be surgically installed to provide a continuous
drain for the excess cerebrospinal fluid produced in the brain, as happens with hydrocephalus.
Shunts most commonly drain into the abdomen or chest wall. However, if spina bifida is
detected during pregnancy, then open or minimally-invasive fetal surgery can be performed.
Most individuals with myelomeningocele will need periodic evaluations by specialists
including orthopedists to check on their bones and muscles, neurosurgeons to evaluate the brain
and spinal cord and urologists for the kidneys and bladder. Such care is best begun immediately
after birth.
Most affected individuals will require braces, crutches, walkers or wheelchairs to
maximize their mobility. The higher the level of the spina bifida defect the more severe
the paralysis. Thus, those with low levels may need only short leg braces while those with higher
levels do best with a wheelchair. Many will need to manage their urinary system with a program
of catheterization. Most will also require some sort of bowel management program.

In childhood
Most individuals with myelomeningocele will need periodic evaluations by a variety of
specialists:
]

Physiatrists coordinate the rehabilitation efforts of different therapists and prescribe specific
therapies, adaptive equipment, or medications to encourage as high of a functional
performance within the community as possible.
Orthopedists monitor growth and development of bones, muscles, and joints.
Neurosurgeons perform surgeries at birth and manage complications associated with
tethered cord and hydrocephalus.
Neurologists treat and evaluate nervous system issues, such as seizure disorders.
Urologists to address kidney, bladder, and bowel dysfunction - many will need to manage
their urinary systems with a program of catheterization. Bowel management programs aimed
at improving elimination are also designed.
Ophthalmologists evaluate and treat complications of the eyes.
Orthotists design and customize various types of assistive technology, including braces,
crutches, walkers, and wheelchairs to aid in mobility. As a general rule, the higher the level
of the spina bifida defect, the more severe the paralysis, but paralysis does not always occur.
Thus, those with low levels may need only short leg braces, whereas those with higher levels
do best with a wheelchair, and some may be able to walk unaided.
Physical therapists, occupational therapists, psychologists, and speech/language
pathologists aid in rehabilitative therapies and increase independent living skills.

Transition to adulthood
Although many children's hospitals feature integrated multidisciplinary teams to
coordinate healthcare of youth with spina bifida, the transition to adult healthcare can be difficult
because the above healthcare professionals operate independently of each other, requiring
separate appointments and communicate among each other much less frequently. Healthcare
professionals working with adults may also be less knowledgeable about spina bifida because it
is considered a childhood chronic health condition. Due to the potential difficulties of the
transition, adolescents with spina bifida and their families are encouraged to begin to prepare for
the transition around ages 1416, although this may vary depending on the adolescent's cognitive
and physical abilities and available family support. The transition itself should be gradual and
flexible. The adolescent's multidisciplinary treatment team may aid in the process by preparing
comprehensive, up-to-date documents detailing the adolescent's medical care, including
information about medications, surgery, therapies, and recommendations. A transition plan and
aid in identifying adult healthcare professionals are also helpful to include in the transition
process.
Further complicating the transition process is the tendency for youths with spina
bifida to be delayed in the development of autonomy, with boys particularly at risk for slower
development of independence.An increased dependence on others (in particular family members)
may interfere with the adolescent's self-management of health-related tasks, such as
catheterization, bowel management, and taking medications. As part of the transition process, it
is beneficial to begin discussions at an early age about educational and vocational goals,
independent living, and community involvement.


Epidemiology:
Spina bifida is one of the most common birth defects, with an average
worldwide incidence of one to two cases per 1000 births, but certain populations have a
significantly greater risk.
In the United States, the average incidence is 0.7 per 1000 live births. The incidence
is higher on the East Coast than on the West Coast, and higher in white people (one case per
1000 live births) than in black people (0.10.4 case per 1000 live births). Immigrants from
Ireland have a higher incidence of spina bifida than do natives. Highest rates of the defect in the
USA can be found in Hispanic youth.
The highest incidence rates worldwide were found in Ireland and Wales, where three
to four cases of myelomeningocele per 1000 population have been reported during the 1970s,
along with more than six cases of anencephaly (both live births and stillbirths) per 1000
population. The reported overall incidence of myelomeningocele in the British Isles was 2.03.5
cases per 1000 births. Since then, the rate has fallen dramatically with 0.15 per 1000 live births
reported in 1998, though this decline is partially accounted for because some fetuses are aborted
when tests show signs of spina bifida (see Pregnancy screening above).
Parents of children with spina bifida have an increased risk of having a second child
with a neural tube defect.



Fetal surgery research:
1980 - Fetal surgical techniques using animal models were first developed at the University
of California, San Francisco by Michael R. Harrison, N. Scott Adzick and research
colleagues.
1994 - A surgical model that simulates the human disease is the fetal lamb model of
myelomeningocele (MMC) introduced by Meuli and Adzick in 1994. The MMC-like defect
was surgically created at 75 days of gestation (term 145 to 150 days) by a lumbo-
sacral laminectomy. Approximately 3 weeks after creation of the defect a reversed latissimus
dorsi flap was used to cover the exposed neural placode and the animals were delivered by
cesarean section just prior term. Human MMC-like lesions with similar neurological
deficit were found in the control newborn lambs. In contrast, animals that underwent closure
had near-normal neurological function and well-preserved cytoarchitecture of the covered
spinal cord on histopathological examination. Despite mild paraparesis, they were able to
stand, walk, perform demanding motor test and demonstrated no signs of incontinence.
Furthermore, sensory function of the hind limbs was present clinically and confirmed
electrophysiologically. Further studies showed that this model, when combined with a
lumbar spinal cord myelotomy leads to the hindbrain herniation characteristic of the Chiari II
malformation and that in utero surgery restores normal hindbrain anatomy by stopping the
leak of cerebrospinal fluid through the myelomeningocele lesion.
Surgeons at Vanderbilt University, led by Joseph Bruner, attempted to close spina
bifida in 4 human fetuses using a skin graft from the mother using a laparoscope. Four cases
were performed before stopping the procedure - two of the four fetuses died.
1998 - N. Scott Adzick and team at The Children's Hospital of Philadelphia performed open
fetal surgery for spina bifida in an early gestation fetus (22 week gestation fetus) with a
successful outcome.
Surgeons at Vanderbilt University, led by Noel Tulipan, made an incision in the
mother's uterus to obtain better exposure to fetuses of 28 to 30 weeks' gestation. All 4 fetuses
were born premature but with evidence of reversal of their Chiari II malformation. Only 2 of the
4 required ventricular shunts after birth. Fetal surgery after 25 weeks has not shown benefit in
subsequent studies.
Subsequently, 4 medical centers conducted 253 open spina bifida repairs prior to the
MOMs trial. The outcomes were mixed, and the only comparison groups were other children
who had not undergone repair after birth in the past.

Endoscopic fetal surgery:
In contrast to the open fetal operative approach performed in the MOMS trial,
a minimally-invasive fetoscopic approach has been developed by the German pediatrician
Thomas Kohl of the German Center for Fetal Surgery & Minimally-Invasive Therapy at
the University of Giessen, Germany.
This approach under general materno-fetal anesthesia uses three trocars (small tubes)
with an external diameter of 5 mm that are directly placed through the maternal abdominal wall
into the uterine cavity under ultrasound guidance. Following intrauterine access, part of the
amniotic fluid is removed and the uterus is insufflated with carbon dioxide (this technique
provides superior visualization of fetoscopic spina bifida closure, is called PACI (partial
amniotic fluid insufflation), and has been safe for mothers and fetuses alike in over 70
procedures on human fetuses). After fetal posturing, the neural cord is freed from pathological
adhesions and covered with patch material. Watertight closure is demonstrated by intraoperative
bulging of the patch. Accordingly, reversal of hindbrain herniation can be documented within
days after most procedures.
The observations in mothers and their fetuses that were operated over the past two and
a half years by the matured minimally invasive approach showed the following results:
Compared to the open fetal surgery technique, fetoscopic repair of myelomeningocele results in
far less surgical trauma to the mother, as large incisions of her abdomen and uterus are not
required. In contrast, the initial punctures have a diameter of 1.2 mm only. As a result, thinning
of the uterine wall or dehisscence which have been among the most worriesome and critizised
complications after the open operative approach do not occur following minimally invasive
fetoscopic closure of spina bifida aperta. The risks of maternalchorioamniotis or fetal death as a
result of the fetoscopic procedure run below 5%.
[71][72][73]
Operated women are discharged home
from hospital one week after the procedure. There is no need for chronic administration
of tocolytic agents since postoperative uterine contractions are barely ever observed. The current
cost of the entire fetoscopic procedure, including hospital stay, drugs, perioperative clinical,
ECG, ultrasound and MRI-examinations, is approximately 16,000.
In a cohort of 20 infants that underwent fetoscopic surgery on the lesion between
July 2010 and December 2011 and were studied during the first six months of life, reversal of
hindbrain herniation was observed in 18 (90%) and shunt insertion was required in only eight
(40%). Normal to near normal leg function was observed in about two thirds of the infants. An
abnormal foot position at birth was observed in only two. The fetuses that were operated at a
mean of 24 weeks of gestation were born at a mean gestational age at delivery of about 33 weeks
of gestation. In contrast to open fetal surgery, leukomalacia has not been observed in neonates
following the fetoscopic approach. Moreover, following the fetoscopic approach, postnatal spina
bifida surgery can now be avoided in most patients.
In 2012, these encouraging results of the fetoscopic approach were presented at various
national and international meetings, among them at the 1st European Symposium Fetal Surgery
for Spina bifida in April 2012 in Giessen, at the 15th Congress of the German Society for
Prenatal Medicine and Obstetrics in May 2012 in Bonn, at the World Congress of the Fetal
Medicine Foundation in June 2012 and at the World Congress of the International Society of
Obstetrics and Gynecology (ISUOG) in Copenhagen in September 2012, and published in
abstract form.

In contrast to the low maternal and fetal complication rates that can be achieved by
the current fetoscopic approach, its clinical introduction was affected by technical difficulties
and a number of adverse fetal outcomes: Three of the first 19 procedures could not be completed,
three fetuses died, and the mean gestational age at delivery was 29 weeks of gestation. As a
result, the approach was heavily critizised by the independent authors of a controlled study about
this cohort and deemed unethical by others.Yet, even in these earliest cases statistically
significant better motor and sensory function of the lower extremities as well as a statistically
significantly lower shunt rate could be demonstrated in contrast to the control patients that
underwent standard postnatal procedures.