**6.12 Wound heeling**

Because of lack of skin sensitivity below the level of open spinal defect, patients do not properly feel small wounds or sores on their lower extremities, buttocks and back region. That is reason that these small wounds may develop into more severe wounds that are more difficult to heal and may sometimes cause generalized infection. Skin breakdowns are also consequence of friction and pressure related to the use of orthotic aids that assist in positioning and ambulation as well as constant pressure on insensitive skin due to immobility, especially with increasing body size and weight [38].

Many patients with open spinal defect have altered sitting balance due to paralysis of abdominal, thoracic and lumbar extensor musculature. Due to this imbalance together with insensate skin leads to frequent skin breakdowns [36].

### **6.13 Neurocognitive disorders and educational status**

Many children with severe forms of spina bifida suffer from specific learning disabilities, such as dyslexia, dyscalculia, problems with paying attention. Patients with less severe forms of spinal dysraphism and with lower levels of defect have higher chance to obtain higher education and better employment and insurance status [19].

### **6.14 Psychological problems**

Patients with open spinal defect prone more to develop depression or suffer from anxiety. Attaining early ambulation provides psychological benefits even if the child later becomes sitter [11].

## **7. Diagnostics**

Early diagnosis of spina bifida is crucial. This applies to open forms. It is known that closed spinal defect that affects only vertebral arch is often just incidental finding without clinical correlate. Early diagnose of open spinal defect gives better chances for better prognosis and for fetal surgery. In some sever cases it could lead to decision of termination of pregnancy.

## **7.1 Prenatal diagnostics**

Screening of neural tube defect is part of routine prenatal screening. Each pregnant women is offered to undergo screening tests. Widely used screening tests during pregnancy are blood tests fetal ultrasonography. In special cases can also amniocentesis be indicated. Fetal MR imaging is used to verified neural tube defect in cases when fetal surgery is planned.

#### *7.1.1 Blood tests*

Initial wide screening for neural tube defects is made by blood tests. It is important to know that this test can have false positive as well as false negative results.

**37**

*Management of Pediatric Patients with Spina Bifida DOI: http://dx.doi.org/10.5772/intechopen.97237*

detected.

*7.1.2 Maternal serum alpha-fetoprotein (MSAFP) test*

tube defects but also other organs abnormalities.

*7.1.3 Fetal ultrasonography*

*7.1.4 Amniocentesis*

*7.1.5 Fetal MRI*

amniocentesis caries also risks.

ment span and interpediculate distance [34].

A sample of maternal blood is taken for this test. Test determines the level of alpha-fetoprotein (AFP) in maternal serum. This protein is produced by fetal tissues and in normal production only small levels of this protein reaches mother's bloodstream. In abnormally high production of AFP, higher level of MSAFP can be

Normal MSAFP level does not absolutely exclude diagnosis of spina bifida. On the other hand high MSAFP levels could be caused by miscalculation of fetal age or multifetus gravidity. In case of positive MSAFP test it is usually repeated. If the level remains high there is an indication for further evaluation, usually by ultrasonography. AFP test can be a part of triple screen test that is used for screening of neural

This diagnostic tool is widely and successfully used screening imaging tool. It is also accurate tool for early diagnostics of open spina bifida. Morphological ultrasound is made three time during pregnancy in each trimester. The first two ultrasounds are most important for early diagnostics. First examination by ultrasonography is performed usually between 11th to 14th gestational week. Second trimester examination is usual between 18th to 22nd week and this imaging is most important for assessment of correct fetal morphology and evaluation of signs of present spina bifida or hydrocephalus [2]. More advanced ultrasonograph could detect also milder forms of spina bifida and in experienced hands could be also useful in evaluation of severity of defect. Children with higher spinal lesions on prenatal ultrasound have more serious motor impairment [20].

Amnicentesis could be indicated after positive ultrasonography. This test is performed by needle inserted transabdominally under ultrasound control to amniotic cavity to take a sample from amniotic fluid. Amniotic fluid can be tested for AFP levels. Cells from amniotic fluid are used for genetic examination to rule out genetic abnormalities causing spina bifida, although genetically associated spina bifida is rare. This needs to be taken into account in decision making as the procedure of

Fetal MR imaging is a powerful diagnostic tool for evaluation of neuroaxis. It plays an important role in prenatal diagnosis, treatment planning and follow up [39]. Fetal MRI is used for determining the level of spinal defect and for selection of candidates for fetal surgery [34]. Fetal MRI is used in cases where prenatal screening and ultrasonography is positive. Open spinal defect in higher levels of spine is more often connected with increased fetal ventricular size [40]. Morphological evaluation by fetal MR imaging provides valuable information for prognosis and possible complications. Higher defects are frequently associated with dysfagia and absence of membrane covering defect is commonly associated with scoliosis and high risk of severe bladder dysfunction. Location and size of defect correlates with severity of motor deficiency, patients with higher and larger defects are predicated for full-time wheelchair use. Lenght and width of defect of the body defect are measured as seg*Management of Pediatric Patients with Spina Bifida DOI: http://dx.doi.org/10.5772/intechopen.97237*

#### *7.1.2 Maternal serum alpha-fetoprotein (MSAFP) test*

A sample of maternal blood is taken for this test. Test determines the level of alpha-fetoprotein (AFP) in maternal serum. This protein is produced by fetal tissues and in normal production only small levels of this protein reaches mother's bloodstream. In abnormally high production of AFP, higher level of MSAFP can be detected.

Normal MSAFP level does not absolutely exclude diagnosis of spina bifida. On the other hand high MSAFP levels could be caused by miscalculation of fetal age or multifetus gravidity. In case of positive MSAFP test it is usually repeated. If the level remains high there is an indication for further evaluation, usually by ultrasonography. AFP test can be a part of triple screen test that is used for screening of neural tube defects but also other organs abnormalities.

#### *7.1.3 Fetal ultrasonography*

*Spina Bifida and Craniosynostosis - New Perspectives and Clinical Applications*

quality. These patients should undergo evaluation of sleep disorders.

together with insensate skin leads to frequent skin breakdowns [36].

**6.13 Neurocognitive disorders and educational status**

Children and adults with open neural tube defects often suffer from sleep disorders, from which sleep apnoea is the most severe one potentially affecting life

Because of lack of skin sensitivity below the level of open spinal defect, patients do not properly feel small wounds or sores on their lower extremities, buttocks and back region. That is reason that these small wounds may develop into more severe wounds that are more difficult to heal and may sometimes cause generalized infection. Skin breakdowns are also consequence of friction and pressure related to the use of orthotic aids that assist in positioning and ambulation as well as constant pressure on insensitive skin due to immobility, especially with increasing body size and weight [38].

Many patients with open spinal defect have altered sitting balance due to paralysis of abdominal, thoracic and lumbar extensor musculature. Due to this imbalance

Many children with severe forms of spina bifida suffer from specific learning disabilities, such as dyslexia, dyscalculia, problems with paying attention. Patients with less severe forms of spinal dysraphism and with lower levels of defect have higher chance to obtain higher education and better employment and insurance status [19].

Patients with open spinal defect prone more to develop depression or suffer from anxiety. Attaining early ambulation provides psychological benefits even if the

Early diagnosis of spina bifida is crucial. This applies to open forms. It is known

that closed spinal defect that affects only vertebral arch is often just incidental finding without clinical correlate. Early diagnose of open spinal defect gives better chances for better prognosis and for fetal surgery. In some sever cases it could lead

Screening of neural tube defect is part of routine prenatal screening. Each pregnant women is offered to undergo screening tests. Widely used screening tests during pregnancy are blood tests fetal ultrasonography. In special cases can also amniocentesis be indicated. Fetal MR imaging is used to verified neural tube defect

Initial wide screening for neural tube defects is made by blood tests. It is important to know that this test can have false positive as well as false negative

**6.11 Sleep disorders**

**6.12 Wound heeling**

**6.14 Psychological problems**

child later becomes sitter [11].

**7.1 Prenatal diagnostics**

to decision of termination of pregnancy.

in cases when fetal surgery is planned.

**7. Diagnostics**

*7.1.1 Blood tests*

**36**

results.

This diagnostic tool is widely and successfully used screening imaging tool. It is also accurate tool for early diagnostics of open spina bifida. Morphological ultrasound is made three time during pregnancy in each trimester. The first two ultrasounds are most important for early diagnostics. First examination by ultrasonography is performed usually between 11th to 14th gestational week. Second trimester examination is usual between 18th to 22nd week and this imaging is most important for assessment of correct fetal morphology and evaluation of signs of present spina bifida or hydrocephalus [2]. More advanced ultrasonograph could detect also milder forms of spina bifida and in experienced hands could be also useful in evaluation of severity of defect. Children with higher spinal lesions on prenatal ultrasound have more serious motor impairment [20].

#### *7.1.4 Amniocentesis*

Amnicentesis could be indicated after positive ultrasonography. This test is performed by needle inserted transabdominally under ultrasound control to amniotic cavity to take a sample from amniotic fluid. Amniotic fluid can be tested for AFP levels. Cells from amniotic fluid are used for genetic examination to rule out genetic abnormalities causing spina bifida, although genetically associated spina bifida is rare. This needs to be taken into account in decision making as the procedure of amniocentesis caries also risks.

#### *7.1.5 Fetal MRI*

Fetal MR imaging is a powerful diagnostic tool for evaluation of neuroaxis. It plays an important role in prenatal diagnosis, treatment planning and follow up [39]. Fetal MRI is used for determining the level of spinal defect and for selection of candidates for fetal surgery [34]. Fetal MRI is used in cases where prenatal screening and ultrasonography is positive. Open spinal defect in higher levels of spine is more often connected with increased fetal ventricular size [40]. Morphological evaluation by fetal MR imaging provides valuable information for prognosis and possible complications. Higher defects are frequently associated with dysfagia and absence of membrane covering defect is commonly associated with scoliosis and high risk of severe bladder dysfunction. Location and size of defect correlates with severity of motor deficiency, patients with higher and larger defects are predicated for full-time wheelchair use. Lenght and width of defect of the body defect are measured as segment span and interpediculate distance [34].

#### **7.2 Postnatal diagnostics**

Ultrasonography is a safe and effective screening method that is commonly used in screening system of the newborns. It is noninvasive imaging method that does not require sedation of newborn without exposure to radiation [12]. Newborns with physiological finding on ultrasonography do not require any further imaging evaluation. On the other hand, positive finding on ultrasonography require more detailed imaging performed by MR imaging [41].

#### *7.2.1 Ultrasonography*

Ultrasonography is the first-line survey for the assessment of spinal cord abnormalities. During the first six months of life non-ossificated vertebral arches and cartilagineous posterior elements provide acoustic window for detained imaging of spinal canal with its content and surrounding soft tissues [17].

Ultrasonography of the spinal cord in infants is very effective tool for imaging of spine and spinal cord compared to postossification [3, 12]. Major indication of spinal ultrasonography in selected group of newborns is possible detection of tethered cord syndrome. Progress of ossification in time makes ultrasonography more difficult [12].

Indications for spinal ultrasonography in newborns are: cutaneous lesions on the back (such as hypertrichosis, subcuteaneous lipoma, sacral sinus, sacral dimple), spinal deformity, neurological abnormality (paraparesis, neurogenic bladder or bowel dysfunction), spinal trauma during delivery and syndromes with associated compression of spinal cord [41].

Spinal ultrasonography is performed in infant in lying prone position with the upper body higher than lower and in flexed spine (curved over pillow). This position offers better acoustic window. Imaging is performed with linear transducer through longitudinal and axial plane scans from craniocervical junction to coccyx [3].

The main structures that must be identified are: conus medularis, filum terminale, cauda equina and spinal roots, central echo complex and subarachnoid spaces. Tip of conus medularis is in newborns usually located L1 and L2 interspace, occasionally on the level of superior end plate of L3. Filum terminale is a band of fibrous tissue that extends from the conus to the caudal end of spinal canal. At the level of L5 and S1 it should be less than 2 mm thick and should be predominantly hypoechoic with a bright hyperechoic periphery. Cauda equina and spinal roots must move according to the pulsatile production of cerebrospinal fluid, as the ultrasonography provides live image of the structures. Central echo-complex is train-line hyperechogenicity provided by the interface of the two margins of spinal canal. It needs to be detectable at all levels of spine and the space must be regular along entire extension. The subarachnoid space is anechoic and does not contain structures except spinal cord and nerve roots [3].

In order to avoid unnecessary further imagings it is important to know some anatomical variations that are considered physiological. Some of them are: mild thickening of the epidural fat, mild thickening of the filum terminale (between 1 and 2 mm), malformation of the coccyx with palpable prominence in the sacral region, transient dilatation of the central canal (usually disappears during the first weeks).

#### *7.2.1.1 Persistence of ventriculus terminalis*

Also known as fifth ventricle. It refers to mild cystic dilatation of the terminal part of spinal cord canal due to incomplete regression of embryonic ventriculus

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*Management of Pediatric Patients with Spina Bifida DOI: http://dx.doi.org/10.5772/intechopen.97237*

dysfunction [3].

*7.2.2 Other imaging methods*

**8. Termination of pregnancy**

**9. Treatment**

for surgical repair.

after birth.

**9.1 Fetal surgery**

surgery [21].

after diagnose of severe open spinal dysraphism [23].

and include also treatment of complications.

terminalis in the conus medularis. This condition is usually asymptomatic, but in some patients could cause low back pain, sciatica or urinary bladder

As ultrasonography of the brain and spine is quick and good available it is the bet diagnostic first-line tool. But for proper imaging of brain, spine and supporting structures for evaluation of extent of the defect, treatment planning and estimation of prognosis there is a need for use of other diagnostic methods. After detailed ultrasonography newborns with more severe spinal defects undergo MR imaging of spine. In open spinal defects with a risk of hydrocephalus newborns undergo CT or MR imaging of the brain according to clinical need with a detection of serious neuroimaging findings, such as ventriculomegally, tonsilar descent, hind brain abnormalities, nodular heterotopia of gray matter and corpus callosum abnormalities – such as aplasia, hypoplasia/partial aplasia with or without dysplasia [23].

Termination of pregnancy with severe fetal anomalies is a controversal issue with many moral and ethical controversies. Indication for termination of such pregnancy is a medical decision but as well moral choice of mother or parents. This moral choice is affected by religion beliefs, legislation, cultural values and socioeconomical status [42]. Around 40% of mothers decide to continue with pregnancy

Treatment of spina bifida depends on severity of primary defect. Occult forms of spina bifida usually do not require any treatment. All other forms are indicated

There has been a significant improval of patient outcomes in the past 50 years because of multidisciplinary approach with an increased life quality of patients and prolonged life expectancy [43]. But though survival has changed significantly within past decades, there has not been significant improval of neurological outcome [44]. In struggle to ameliorate the neurological outcome fetal surgery seems to be a promise. If fetal surgery is not indicated newborn needs to be operated soon

As the spina bifida is a complex problem, also treatment needs to be complex

Neurological deficit in patients with spina bifida is thought to be result of two circumstances – the primary insult is the congenital anomaly and the second is from direct exposure of spinal cord to amniotic fluid and intrauterine trauma. This hypothesis is the rationale for preventing secondary damage to spinal cord by fetal

Fetal surgery in fetus with open type of spina bifida, though risky, is a promising procedure in improval of neurological outome. This procedure has to take place before completed 26th week of gestation. Indication for fetal surgery is a result

terminalis in the conus medularis. This condition is usually asymptomatic, but in some patients could cause low back pain, sciatica or urinary bladder dysfunction [3].
