Neural Tube Defects

Fetal Medicine

Clinicals - History

Fact Explanation
Past history/ Family history of a baby with any type of neural tube defect Recurrence rate of neural tube defect is 1:50 (2%) Past history/ Family history of a baby with any type of neural tube defect
Recurrence rate of neural tube defect is 1:50 (2%)
Local skin change over the back of the baby along the vertebral column. Closed neural tube defects are commonly present with an abnormal manifestation over the spine such as fluid filled cystic lesion, sacral dimple, sacral pits, skin tag, cleft in gluteal region and with some cutaneous lesions like patch of hypopigmentation/ hyperpigmentation, capillary telangiectasia/hemangioma hairy patch (hypertrichosis). Local skin change over the back of the baby along the vertebral column.
Closed neural tube defects are commonly present with an abnormal manifestation over the spine such as fluid filled cystic lesion, sacral dimple, sacral pits, skin tag, cleft in gluteal region and with some cutaneous lesions like patch of hypopigmentation/ hyperpigmentation, capillary telangiectasia/hemangioma hairy patch (hypertrichosis).
Abnormal curvature of the vertebral column Scoliosis can be a one of presentation in neural tube defects. Abnormal curvature of the vertebral column
Scoliosis can be a one of presentation in neural tube defects.
Limb weakness / delayed walking/ abnormal walking pattern of the baby This is one of neurological manifestation, due to the lower limb weakness child may delay in starting walking or the gait may be abnormal. Limb weakness / delayed walking/ abnormal walking pattern of the baby
This is one of neurological manifestation, due to the lower limb weakness child may delay in starting walking or the gait may be abnormal.
Bladder dysfunction (urinary incontinence/ urinary retention) This is another neurological manifestation. Neurogenic bladder and neurogenic detrusor overactivity may lead to this bladder dysfunction in this patients. Bladder dysfunction (urinary incontinence/ urinary retention)
This is another neurological manifestation. Neurogenic bladder and neurogenic detrusor overactivity may lead to this bladder dysfunction in this patients.
Bowel dysfunction (fecal incontinence/ constipation) This is also due to the neurological involvement. Bowel dysfunction (fecal incontinence/ constipation)
This is also due to the neurological involvement.
Low back pain this is a common presentation in older children. this can manifest without any neurological involvement. Low back pain
this is a common presentation in older children. this can manifest without any neurological involvement.
Sudden onset pain, limb weakness, Sensory loss, bladder dysfunction after sudden trauma Due to sudden impact over malformed vertebral column, spinal cord can be damaged . tethering of the cord commonly present as this . Sudden onset pain, limb weakness, Sensory loss, bladder dysfunction after sudden trauma
Due to sudden impact over malformed vertebral column, spinal cord can be damaged . tethering of the cord commonly present as this .
Gradual onset limb weakness, sensory loss, bladder dysfunction. Patients with congenital dermal sinus with an intraspinal dermoid cyst /neurenteric cyst will present with above symptoms due to gradual compression of the spinal cord by increasing the size of the cyst. Gradual onset limb weakness, sensory loss, bladder dysfunction.
Patients with congenital dermal sinus with an intraspinal dermoid cyst /neurenteric cyst will present with above symptoms due to gradual compression of the spinal cord by increasing the size of the cyst.
Photo phobia, headache, difficulty in moving the neck Patients with neural tube defects may present with features of meningitis . this meningitis can be a bacterial meningitis or aseptic meningitis. Recurrent attacks of aseptic meningitis can occur due to leaking of the content of a dermoid cyst into the subarachnoid space. Photo phobia, headache, difficulty in moving the neck
Patients with neural tube defects may present with features of meningitis . this meningitis can be a bacterial meningitis or aseptic meningitis. Recurrent attacks of aseptic meningitis can occur due to leaking of the content of a dermoid cyst into the subarachnoid space.
Leg abnormalities Leg deformities like thin calf, higher arch, small foot on the same side, and hammering or clawing of the toes may lead to asymmetry of the legs and/or feet. This is a common presentation Leg abnormalities
Leg deformities like thin calf, higher arch, small foot on the same side, and hammering or clawing of the toes may lead to asymmetry of the legs and/or feet. This is a common presentation

Clinicals - Examination

Fact Explanation
Stillbirth/ death with in few hours of delivery In anencephaly majority of babies are either still born or they die with few hours of delivery, but very rarely a baby may live up to few days Stillbirth/ death with in few hours of delivery
In anencephaly majority of babies are either still born or they die with few hours of delivery, but very rarely a baby may live up to few days
Abnormal face and neck In anencephaly, cranial vault and covering skin is absent either partially or totally. Here usually baby is not having a brain or brain is limited to a small mass. Abnormal face and neck
In anencephaly, cranial vault and covering skin is absent either partially or totally. Here usually baby is not having a brain or brain is limited to a small mass.
Local skin change over the vertebral column such as fluid filled cystic lesion, sacral dimple, sacral pits, skin tag, gluteal cleft and cutaneous lesions like patch of hypopigmentation/ hyperpigmentation, capillary telangiectasia/hemangioma hairy patch (hypertrichosis). Closed neural tubes can give local skin manifestations Local skin change over the vertebral column such as fluid filled cystic lesion, sacral dimple, sacral pits, skin tag, gluteal cleft and cutaneous lesions like patch of hypopigmentation/ hyperpigmentation, capillary telangiectasia/hemangioma hairy patch (hypertrichosis).
Closed neural tubes can give local skin manifestations
head circumference Open neural tube defects are commonly affect the entire central nervous system and this can lead to hydrocephalus this manifest as increasing head circumference. head circumference
Open neural tube defects are commonly affect the entire central nervous system and this can lead to hydrocephalus this manifest as increasing head circumference.
Complete sensory and motor examination (observation- muscle bulk, spontaneous active movements, movements in response to stimulation/ palpation-muscle tone) complete examination will help to identify the motor weakness and sensory impairments. Weakness and sensory loss can be depend on the level of the lesion and the type of the neural tube defect. Complete sensory and motor examination (observation- muscle bulk, spontaneous active movements, movements in response to stimulation/ palpation-muscle tone)
complete examination will help to identify the motor weakness and sensory impairments. Weakness and sensory loss can be depend on the level of the lesion and the type of the neural tube defect.
Evidence of bladder bowel dysfunction ( fecal/ urine smell- bowel/bladder incontinence, palpable bladder- urinary retention) These are neurological manifestations.Neurogenic bladder and neurogenic detrusor overactivity may lead to urinary retention and urinary incontinence. Bowel dysfunction also can present as either fecal incontinence or constipation. Evidence of bladder bowel dysfunction ( fecal/ urine smell- bowel/bladder incontinence, palpable bladder- urinary retention)
These are neurological manifestations.Neurogenic bladder and neurogenic detrusor overactivity may lead to urinary retention and urinary incontinence. Bowel dysfunction also can present as either fecal incontinence or constipation.
Examination of the spine for deformities- Kyphosis, scoliosis spinal deformities are associated with neural tube defects. Examination of the spine for deformities- Kyphosis, scoliosis
spinal deformities are associated with neural tube defects.

Investigations - Diagnosis

Fact Explanation
Ultrasonography This is the gold standard method . Earliest period is to be diagnosed between 11-14 weeks as skull ossification is not complete until 11 weeks. A repeat scan between 18-20 weeks is usually offered to confirm this diagnosis. Anencephaly, scalloping of the frontal bones-lemon sign and anterior curvature of the cerebellar hemispheres-banana sign are the features suggestive of neural tube defects on ultrasound scan.
Postnatally role is limited but useful in screening for hydrocephalus.
Ultrasonography
This is the gold standard method . Earliest period is to be diagnosed between 11-14 weeks as skull ossification is not complete until 11 weeks. A repeat scan between 18-20 weeks is usually offered to confirm this diagnosis. Anencephaly, scalloping of the frontal bones-lemon sign and anterior curvature of the cerebellar hemispheres-banana sign are the features suggestive of neural tube defects on ultrasound scan.
Postnatally role is limited but useful in screening for hydrocephalus.
Magnetic Resonance Imaging (MRI) This is helpful in visualizing both intracranial and intraspinal abnormalities. MRI useful for Antenatal diagnosis as well . Magnetic Resonance Imaging (MRI)
This is helpful in visualizing both intracranial and intraspinal abnormalities. MRI useful for Antenatal diagnosis as well .
Computer thermography (CT) scan CT scan helpful in visualizing the skeletal defects/abnormalities and intracranial abnormalities (Hydrocephalus). Computer thermography (CT) scan
CT scan helpful in visualizing the skeletal defects/abnormalities and intracranial abnormalities (Hydrocephalus).

Investigations - Management

Fact Explanation
Ultrasonography Postnatally role is limited but useful in screening for hydrocephalus.
As there is a recurrence of neural tube defects anomaly scan looking specifically for this condition is help full antenatally in mothers with either positive past/family history of neural tube defects.
Ultrasonography
Postnatally role is limited but useful in screening for hydrocephalus.
As there is a recurrence of neural tube defects anomaly scan looking specifically for this condition is help full antenatally in mothers with either positive past/family history of neural tube defects.
Genetic screening Several genetic factors are proven to be associated with neural tube defect. Some chromosomal abnormalities such as trisomy 13, 18, 21 associated with this condition. Genetic screening
Several genetic factors are proven to be associated with neural tube defect. Some chromosomal abnormalities such as trisomy 13, 18, 21 associated with this condition.
Urodynamic studies As neural tube defects can cause bladder dysfunction, Urodynamic studies will helpful in follow up to assess the present condition. Urodynamic studies
As neural tube defects can cause bladder dysfunction, Urodynamic studies will helpful in follow up to assess the present condition.
Renal function tests Bladder dysfunction can affect renal function of the patient. Renal function tests
Bladder dysfunction can affect renal function of the patient.
Urine full report Due to bladder dysfunction and intermittent catheterization, patients are at risk of getting frequent urinary tract infections. Urine full report
Due to bladder dysfunction and intermittent catheterization, patients are at risk of getting frequent urinary tract infections.
Urodynamic studies This will help to analyze bladder functioning. Urodynamic studies
This will help to analyze bladder functioning.
Renal function tests Important in evaluating the kidney functions as neurogenic bladder and neurogenic detrusor overactivity may lead to bladder dysfunction in these patients. Renal function tests
Important in evaluating the kidney functions as neurogenic bladder and neurogenic detrusor overactivity may lead to bladder dysfunction in these patients.
Maternal serum-AFP tests Alpha fetoprotein(AFP) is a fetal protein. When fetus has a open neural tube defect There is more leakage of AFP to the amniotic fluid. It causes increased level of AFP. This test has a limited reliability, but useful and necessary in screening. This usually performed on a pregnant woman's blood around 16-18 weeks of pregnancy. Among neural tube defects anencephaly has the highest sensitivity while encephalocele has the lowest sensitivity for the test. Maternal serum-AFP tests
Alpha fetoprotein(AFP) is a fetal protein. When fetus has a open neural tube defect There is more leakage of AFP to the amniotic fluid. It causes increased level of AFP. This test has a limited reliability, but useful and necessary in screening. This usually performed on a pregnant woman's blood around 16-18 weeks of pregnancy. Among neural tube defects anencephaly has the highest sensitivity while encephalocele has the lowest sensitivity for the test.
Genetic testing Several genetic factors are proven to be associated with neural tube defect. In a couple who has a child with neural tube defect, there is a 2-5% increased risk of having a second child with the same condition. Genetic testing
Several genetic factors are proven to be associated with neural tube defect. In a couple who has a child with neural tube defect, there is a 2-5% increased risk of having a second child with the same condition.
Chorocentesis and amniocentesis As there are chromosomal abnormalities associated with neural tube defects, it is important to exclude those by chorocentesis and amniocentesis in the antenatal period. Chorocentesis and amniocentesis
As there are chromosomal abnormalities associated with neural tube defects, it is important to exclude those by chorocentesis and amniocentesis in the antenatal period.

Management - Supportive

Fact Explanation
Options after antenatal diagnosis If the conditions are permissible, termination of pregnancy can be considered depend on the opinion of the couple. If they want to continue the pregnancy even in the presence of anencephaly, the vaginal delivery should be planned. Options after antenatal diagnosis
If the conditions are permissible, termination of pregnancy can be considered depend on the opinion of the couple. If they want to continue the pregnancy even in the presence of anencephaly, the vaginal delivery should be planned.
Multidisciplinary management approach A babies with NTD are particularly vulnerable for lot of complications such as it is important to have a multidisciplinary approach in the management involving various specialties . eg:- Neurosurgeon, urologist, orthopedic surgeon, physiotherapists etc. Multidisciplinary management approach
A babies with NTD are particularly vulnerable for lot of complications such as it is important to have a multidisciplinary approach in the management involving various specialties . eg:- Neurosurgeon, urologist, orthopedic surgeon, physiotherapists etc.
Surveillance and public health programms Educational programmes are important to prevent preventable NTDs. Food fortification is also important in prevention. Surveillance and public health programms
Educational programmes are important to prevent preventable NTDs. Food fortification is also important in prevention.

Management - Specific

Fact Explanation
Folic acid Folic acid :400 micrograms (from 3 months before pregnancy up to 12 weeks) or 5 mg if there is a positive family history of neural tube defects is indicated. Folic acid is proven to be effective in reducing the new cases and recurrence of spina bifida and anencephaly and also to reduce the chance of other birth defects such as cardiac, orofacial, limb, and renal anomalies. Folic acid
Folic acid :400 micrograms (from 3 months before pregnancy up to 12 weeks) or 5 mg if there is a positive family history of neural tube defects is indicated. Folic acid is proven to be effective in reducing the new cases and recurrence of spina bifida and anencephaly and also to reduce the chance of other birth defects such as cardiac, orofacial, limb, and renal anomalies.
Neonatal care In a newborn with open neural tube defects, there is a risk of baby become hypothermia, and infections.So the newborn should be covered with sterile, warm, wet dresses. They may require intensive care. Neonatal care
In a newborn with open neural tube defects, there is a risk of baby become hypothermia, and infections.So the newborn should be covered with sterile, warm, wet dresses. They may require intensive care.
Surgical closure of the defect Surgical closure should be done for open neural tube defects. Surgical closure of the defect
Surgical closure should be done for open neural tube defects.
Ventriculoperitoneal shunt placement Shunts are inserted for the treatment or prevention of hydrocephalus. Coagulase negative staphylococcus and gram negative bacteria can complicate the shunts. Ventriculoperitoneal shunt placement
Shunts are inserted for the treatment or prevention of hydrocephalus. Coagulase negative staphylococcus and gram negative bacteria can complicate the shunts.
Intermittent catheterization Due to neurogenic bladder patient will present with urinary retention. Intermittent self catheteriztion is recommend to maintain bladder care. Intermittent catheterization
Due to neurogenic bladder patient will present with urinary retention. Intermittent self catheteriztion is recommend to maintain bladder care.

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