It won't happen very often in the primary provider's career--the birth of a child with a neural tube defect (NTD).  The rate in northwestern states is 1 per 2,000 live births.  But here are some suggestions for that eventuality.

When the presence of a NTD is not known before birth:

The diagnosis of an NTD prenatally has significant implications for subsequent prenatal care, labor and delivery.  Whether the diagnosis is made by MSAFP or ultrasound, consideration should be given to the route and site of delivery.  Some studies have suggested that a C-section will limit the ultimate severity of the neurologic deficit; other studies do not confirm this finding (Luthy, et al.).  The parents will want to weigh the risks of a vaginal delivery vs. a C-section, for both the mother and newborn.

When a neural tube defect is diagnosed prenatally, the mother should be referred to a tertiary center for prenatal preparatory consultation and perhaps, delivery.  Members of a spina bifida tertiary care team will provide the parents with an accurate projection of the baby’s outcome and function.  In our experience, parents informed prenatally of an NTD cope well with the postnatal course, having been armed with information, appropriate reassurance, and time to adjust their expectations.

When indicated (as in the majority of such pregnancies), delivery in the tertiary center has multiple advantages.  It obviates the need for transport of the baby shortly after birth, and facilitates earlier closure of the defect.  Preventive evaluation by the numerous subspecialists experienced in these conditions can be more efficiently coordinated and prioritized.  The typical spina bifida program team cares for over two hundred children with neural tube defects, and offers the most current treatments.  Delivery at the site of neonatal care also facilitates parental bonding and participation in care decisions, diminishes fear and anxiety, and solidifies the family’s relationship with the tertiary team members with whom they will be will working for years to come.

When the birth actually takes place, the most important words to say to the parents are:  "Congratulations on the birth of your child!"  These words offer the family joy, optimism, respect, acceptance, and nonabandonment.  This simple step also facilitates parental interest, learning, and care provision.  We believe that effective parental coping skills and parental participation in the child's care are more significant determinants of the child's functional outcome than the level or severity of the NTD.

When the presence of a NTD is not known before birth:

In the case of an open myelomeningocele, the CSF (cerebral spinal fluid) is exposed to infection.  After brief viewing of the lesion by the parents for their information, and by the provider for description to the consultants, the lesion should be covered for protection during transport.   Bandaging must provide a barrier to infection as well as to trauma and desiccation.  Cover the sack with a sterile 4x4, moisten with sterile saline, and then encircle the trunk with a securing bandage roll.  Cover the entire dressing with plastic wrap (e.g. “Saran wrap”).  Intravenous antibiotics should be started to prevent meningitis (Noetzel).  An adhesive plastic surgical field drape taped over the buttocks deflects feces away from the back; we call it a "mud flap."  Closure of a myelomeningocele within 48 hours is customary, though some centers have shown that outcome is not altered by delaying up to 4 days (Charney, et al.).  This allows time for professional evaluations and parental decision-making.

It is outside the scope of this discussion to address the ethics of withholding surgical closure of NTDs; suffice it to say that the so-called "selective treatment," espoused by some British surgeons in the early 1970's, yields a less satisfactory outcome than the American approach of vigorous intervention for all.  The current practice is to consider withholding surgery only in the face of projected profound retardation because of a severe deformity of the CNS (e.g., holoprosencephaly or a single undifferentiated ventricle), associated complex life threatening birth defects such as non-correctable cardiac conditions, or chromosomal syndromes known to severely truncate survival (e.g., trisomy 13 or 18).

Evaluation at the tertiary care center:

Once the baby is delivered at the tertiary center or transported there, the baby is seen for multiple consultations.  If the infant has stigmata of other severe or potentially lethal conditions, a genetics consultation is obtained.  The geneticist or developmental pediatrician may make the clinical diagnosis of associated conditions such as Fetal Alcohol syndrome (FAS), Valproate syndrome, or Velo-cardio-facial syndrome (now known to be caused by the same 22q11 deletion as DiGeorge syndrome; see Nickel, et al.).  If needed, bone marrow aspiration for immediate karyotyping is carried out by the hematologists.  Karyotyping can be completed within four hours.

Enter the Neurosurgeon.  The spinal lesion is examined and plans for surgical closure are made.  If needed, the type of defect is diagnosed by ultrasound or MRI in the case of skin covered sacks, or unusual defects such as myelocystocele, split cord (diatomatomyelia), or sacral agenesis or dysgenesis.  For the child with myelomeningocele, a head ultrasound is immediately done to clarify ventricular size or the possible need for drainage of hydrocephalus, or as a baseline for comparison of CSF fluid dynamics in following weeks.  If a Chiari II malformation is present, the child is evaluated and monitored for life threatening symptoms of brainstem compression such as respiratory failure.  At 15%, this is the most common cause of mortality in myelomeningocele occurring within the first 3 months (Shurtleff, et al.).

Certainly, the most important intervention in the neonate is surgical closure of the open NTD itself.  Large defects may require lateral releasing incisions to allow skin coverage, with grafting from a donor site such as the thigh.  This may be done in conjunction with the plastic surgeon.  Skin covered defects can be electively explored and repositioned when the neonate is physiologically more stable.

For the week following closure of the defect, the infant is laid prone for healing.  Many other evaluations are delayed until the infant can be safely moved.  Then the urologist, orthopedist, and physical and occupational therapists will be consulted.

Meanwhile, head growth is followed closely.  Closure of the dural defect often results in changes of CSF dynamics, resulting in insufficient drainage which causes hydrocephalus.  Upwards of 85% of children with myelomeningocele defects will require ventricular shunting within the first 3 months.

The urinary system is evaluated for infection, obstruction, reflux, or dysgenesis.  Urinalysis and culture are obtained.  Postvoid residuals will be evaluated by catheterization after a wet diaper.  Volumes of more than 20 cc's indicate insufficient emptying, necessitating clean intermittent catheterization (CIC) until further urodynamic evaluation or improvement.  The mechanism may be detrus or dyssynergia, posterior urethral valves, or transient spinal cord shock.  When the baby can be lain supine, a renal ultrasound is obtained.  Any abnormal anatomy must be clarified by a renal scan; anomalies such as UP obstruction, hydronephrosis or hydroureter must be clarified with a voiding cystourethrogram (VCUG).  Once the urinary system is evaluated, plans are laid out for care.  The infant may require clean intermittent catheterization, preventive antibiotics, or even cystostomy.

The orthopedist will be called to evaluate the hips for dislocation, the feet for clubbing, and the ankles for displacement secondary to asymmetrical muscle dynamics.  Casting or tenotomy may be indicated.  The physical and occupational therapists will evaluate movement range and quality, and prescribe home therapy programs and stretching exercises to be carried out by the parents.  Together, these professionals will lay out plans for future surgeries, braces, casting, and ambulation.

In the nursery the bowel pattern will be observed and an evacuation program started if required.  Nursing staff will draft a full plan of care to educate the parents and coordinate with home visiting nurse care.  Social work staff will review family health insurance, resources, services, and coping skills, as well as community and home support.

As discharge approaches, an "informing" session is held with the parents and other involved relatives.  This continues the process of enhancing parental coping and participation.  Findings and recommendations from the numerous consultants are reviewed in order to assure parental understanding.  Long term prognosis for survival, ambulation, and independence are outlined (McLaughlin).  Use of folic acid to prevent an NTD recurrence in a future baby is outlined.  The parents' growing knowledge, even expertise is affirmed.  Arrangements for ongoing care will be  worked out.  Necessary care sources are reviewed, including primary pediatrics (see Colgan), tertiary subspecialty services, the spina bifida program team, developmental services such as early intervention, community-based providers such as therapists, and social services.  Finally, a care manager or coordinator acceptable to all is named.  This final session is always intense, both in volume of information shared as well as emotional transitions.

Thus, in a supported fashion, the parents of the newborn with a neural tube defect assume care of their child with complex medical problems.  The goals remain optimism with realism, aiming for the best potential function and outcome for the child.

References

Charney EB, et al. (1985).  Management of the newborn with myelomeningocele:  Time for a decision‑making process.  Pediatrics 75:58-64.

Colgan MT (1981).  The child with spina bifida:  Role of the pediatrician.  Am J Dis Child 135:854-58.

Luthy DA, et al. (1991).  Cesarean section before the onset of labor and subsequent motor function in infants with meningomyelocele diagnosed antenatally.  NEJM 324 (10):662-666.

McLaughlin JF and Shurtleff DB (1979).  Management of the newborn with myelodysplasia.  Clinical Pediatrics 18(8):463-480.

Noetzel MJ (1989).  Myelomeningocele:  Current concepts of management.  Clinics in Perinatology 16(2):311-329.

Nickel RE, et al. (1994). Velo-cardio-facial and DiGeorge syndromes with meningomyelocele and deletions of the 22q11 region.  Am J Med Genetics 52:445-449.

Shurtleff DB, Dias L, McLone D, McLaughlin JF (1991).  Early Management of Meningomyelocele.  American Academy of Cerebral Palsy and Developmental Medicine, October 11, 1991.

(Last Updated 5/23/01)
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