Elena Trcoski (Spina Bifida)

8/11/2019 Elena Trcoski (Spina Bifida)

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STUDENT: Trcoski Elena

SPINA BIFIDA

Fromlatin:"split spine" is a developmentalcongenital disorder caused by the

incomplete closing of theembryonicneural tube.Somevertebrae overlying thespinal 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 includeanencephaly,a

condition in which the portion of the neural tube that will become thecerebrum does not close,

andencephalocele,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 thelumbar andsacral 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.
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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 dailyfolic acid supplements prior

toconception.

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

OccultaisLatin 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 sosmall that the spinal cord does not protrude. The skin at the site of thelesion may be normal, or it

may have some hair growing from it; there may be a dimple in the skin, or abirthmark.

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 ofradiographic 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 studyfound, 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 posteriorfusion 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.
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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 thebrain.

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 lipomeningocelethis is like a tethered spinal cord, except it is

attached to a benign fatty tumor;

Thickened filum terminalethe end of the spinal cord is too thick;

Fatty filum terminalethere is a fatty lump at the inside end of the spinal cord;


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Diastematomyelia (split spinal cord) and diplomyeliathe 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 themeninges 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 oftethered cord have been reported. Causes of

meningocele includeteratoma and othertumors of thesacrococcyx and of thepresacral space,andCurrarino 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 thenasal cavity and may be mistaken for anasal polyp.They are treated

surgically. Encephalomeningoceles are classified in the same way and also contain brain tissue.
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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 tissuescovering 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.


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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 withmyelomeningocele. 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.


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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 asmeningitis.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

ofparalysis 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.
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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 patterno see "Meningocele"

PATHOGENESIS:

1. Background

o spina bifida with myeloschisis is the most severe form of spina bifida cysticao 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 membraneo 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 atthe 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 membraneo ? 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 ultrasoundo amniocentesis - elevated AFP and acetylcholinesterase


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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 fromthe 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
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68% of children with spina bifida have anallergy tolatex,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 andcathetersthat 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 atethered 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 asparalysis and muscle weakness

bladder and bowel symptoms, such asbowel incontinence andurinary

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 atype 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
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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 tyingshoelaces 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
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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 musclesand 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 ofdiarrhoea (loose, watery stools) or

soiling due to stools overflowing from the bowel.

Neurological complications

Many individuals with spina bifida have an associated abnormality of thecerebellum,

called theArnold 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 ofcerebrospinal fluid,causing an excess of the fluid to accumulate. In fact, the
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cerebellum also tends to be smaller in individuals with spina bifida, especially for those with

higher lesion levels.

Thecorpus 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 anteriorregions 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 ofembryonic 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 afterfertilization.However, if something

interferes and the tube fails to close properly, a neural tube defect will occur. Medications such

as someanticonvulsants,diabetes,having a relative with spina bifida,obesity,and an increased

body temperature fromfever or external sources such as hot tubs and electric blankets mayincrease 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 andatherosclerosis (coronary artery disease), likely results from the

interaction of multiplegenes and environmental factors.

Research has shown the lack offolic 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 thiseffect.

Spina bifida does not follow direct patterns ofheredity likemuscular

dystrophy orhaemophilia.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 aneural tube defect.This

risk can be reduced to about 1% if the woman takes high doses (4mg/day) of folic acid before
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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 withfolic acid has been shown to be helpful in

reducing the incidence of spina bifida. Sources of folic acid includewhole grains,

fortifiedbreakfast cereals,driedbeans,leaf vegetables andfruits.

Folate fortification of enriched grain products has been mandatory in the United

States since 1998. TheU.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 monthsbeforeconception,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 takinganticonvulsant medication should take a higher dose of 45 mg/day.

Certain mutations in the gene VANGL1are 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 fetalultrasound.Increased levels of maternal serum

alpha-fetoprotein (MSAFP) should be followed up by two tests - anultrasound of the fetal spine

andamniocentesis of the mother's amniotic fluid (to test foralpha-

fetoprotein andacetylcholinesterase).

AFP tests are now mandated by some state laws (includingCalifornia). 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
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Three-dimensional ultrasound image of the fetal spine at 21 weeks of pregnancy

mother'sOBGYN negligent for not performing these tests.[49]Spina bifida may be associated

with other malformations as in dysmorphic syndromes, often resulting in

spontaneousmiscarriage.In the majority of cases, though, spina bifida is an isolated

malformation.

Genetic counseling and furthergenetic testing,such as amniocentesis, may be offered

during the pregnancy, as some neural tube defects are associated with genetic disorders such

astrisomy 18.Ultrasound screening for spina bifida is partly responsible for the decline in new

cases, because many pregnancies areterminated out of fear that a newborn might have a poor

futurequality 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,pediatricneurosurgeons operate to close

the opening on the back. The spinal cord and its nerve roots are put back inside the spine and

covered withmeninges.In addition, ashunt may be surgically installed to provide a continuousdrain for the excess cerebrospinal fluid produced in the brain, as happens withhydrocephalus.

Shunts most commonly drain into theabdomen or chest wall. However, if spina bifida is

detected during pregnancy, thenopen 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
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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

theparalysis.Thus, those with low levels may need only short leg braces while those with higherlevels 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:]

Physiatristscoordinate the rehabilitation efforts of different therapists and prescribe specific

therapies, adaptive equipment, or medications to encourage as high of a functionalperformance within the community as possible.

Orthopedistsmonitor growth and development of bones, muscles, and joints.

Neurosurgeonsperform surgeries at birth and manage complications associated with

tethered cord and hydrocephalus.

Neurologiststreat and evaluate nervous system issues, such as seizure disorders.

Urologiststo address kidney, bladder, and bowel dysfunction - many will need to manage

their urinary systems with a program ofcatheterization.Bowel management programs aimed

at improving elimination are also designed.

Ophthalmologistsevaluate and treat complications of the eyes. Orthotistsdesign 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,andspeech/language

pathologistsaid in rehabilitative therapies and increase independent living skills.

Transition to adulthood

Although manychildren'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
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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

worldwideincidence 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 ofanencephaly (both live births andstillbirths)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 birthsreported in 1998, though this decline is partially accounted for because some fetuses are aborted

when tests show signs of spina bifida (seePregnancy screening above).

Parents of children with spina bifida have an increased risk of having a second child

with a neural tube defect.
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Fetal surgery research:

1980 - Fetal surgical techniques using animal models were first developed at theUniversityof California, San Franciscoby 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-

sacrallaminectomy.Approximately 3 weeks after creation of the defect a reversedlatissimus

dorsi flap was used to cover the exposedneural placode and the animals were delivered by

cesarean section just prior term. Human MMC-like lesions with similarneurological

deficit were found in the control newborn lambs. In contrast, animals that underwent closure

had near-normal neurological function and well-preservedcytoarchitecture of the covered

spinal cord onhistopathological examination.Despite mildparaparesis,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 cordmyelotomy 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 atVanderbilt University,led by Joseph Bruner, attempted to close spinabifida in 4 human fetuses using a skin graft from the mother using alaparoscope.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 the4 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.
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Endoscopic fetal surgery:

In contrast to the open fetal operative approach performed in the MOMS trial,

aminimally-invasive fetoscopic approach has been developed by the German pediatrician

Thomas Kohl of the German Center for Fetal Surgery & Minimally-Invasive Therapy at

theUniversity of Giessen,Germany.This approach under general materno-fetal anesthesia uses threetrocars (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 withcarbon 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 ordehisscence 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

oftocolytic 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 amean 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
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for Spina bifida in April 2012 inGiessen,at the 15th Congress of theGerman 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 theInternational Society of

Obstetrics and Gynecology (ISUOG) inCopenhagen 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.
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Elena Trcoski (Spina Bifida)

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