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Neural Tube Defects - Initial Diagnosis

Page Contents

Overview

The initial diagnosis of open neural tube defects (NTD) is most commonly made during routine prenatal ultrasound exams, which allows for deliberate preparation by and for the family and health care providers. This section will focus on the initial evaluation and management of children with an open NTD. Infants with myelomeningocele commonly undergo surgery soon after birth to repair the defect and the accompanying hydrocephalus, if present. During their initial (birth) hospitalization, a protocol including echocardiogram, head CT, and renal ultrasound, and initiation of a latex-free environment is followed. For an example, see Preop Care of the Child with Myelomeningocele (PCMC) (PDF Document 12 KB) and Postop Care of the Child with Myelomeningocele (PDF Document 16 KB) .

Pearls And Alerts

An ongoing research trial of fetal surgery to correct myelomeningocele and to decrease the incidence of associated features, such as Chiari malformation and hydrocephalus, is currently underway - for more information see the following program websites: CHOP maternal fetal surgery for myelomeningocele, UCSF maternal fetal surgery for myelomeningocele, and Description of MOMS trial for NTD (clinicaltrials.gov). [Fichter: 2008]

Practice Guidelines

There are no guidelines for the initial diagnosis of spina bifida.

Differential Diagnosis

There is no differential diagnosis.

History And Examination

Family History

family history of neural tube defects

Pregnancy/Perinatal History

Diagnosis may have been triggered by an alpha-fetoprotein test or fetal ultrasound. Knowing the timing of diagnosis and the counseling received to date will help you understand how well the family is prepared.

Medical History

With the first visit to the Medical Home after myelomeningocele repair, review the child's problem list and their medical history. For children just released from the hospital after initial management, a myelomeningocele protocol would have been followed that includes screening of likely affected organ systems (for an example, see Preop Care of the Child with Myelomeningocele (PCMC) (PDF Document 12 KB) and Postop Care of the Child with Myelomeningocele (PDF Document 16 KB) . Key information for the Medical Home to gather for optimum understanding of the newborn's condition on discharge include:
  • level of the spinal lesion; surgical repair and results; movement and sensation below lesion
  • bladder and bowel function
  • urinary tract screening (usually ultrasound and voiding cystourethrogram) results
  • brain involvement – Chiari II malformation, hydrocephalus, shunted?
  • presence or absence of seizures
  • family adjustments and acceptance

Social and Family History

Knowledge of others in the extended family with spina bifida or related problems may alert you to sources of support or anxiety.

Physical Exam

General

Level of alertness

Growth Parameters

Length | weight | OFC | Follow weight and length for adequate growth; follow OFC for increasing percentiles that may signal hydrocephalus.

Neurologic Exam

Exam to determine reflexes and confirm level of lesion. Perform sensory exam of the extremities and trunk - usually the level of sensory dysfunction is slighter higher than the dysfunction detected on motor exam. Perform motor exam, including observation of muscle bulk and tone and the presence of spontaneous and responsive movement. A baseline is important if there is a question of deterioration (e.g., due to tethered cord, increased intracranial pressure). Check for gag and suck reflexes.

Musculoskeletal

Check hips for clicks and dislocation. Club feet may be present.

Testing

Sensory Testing

Check results of newborn hearing screening.

Imaging and EEG

Imaging: At birth, CT scans may be used to visualize bony defects and surrounding anatomy, as well as presence or absence of hydrocephalus and/or other cranial anomalies; MRI is the best study to identify contents of the lesion.
EEG may be indicated for a clinical question of seizures.

Other Testing

Urinary tract/kidney evaluation:
  • The evaluation starts in the newborn period with a renal ultrasound to look for anatomical abnormalities, such as absent kidney or horseshoe kidney, the frequencies of which are greater in children with myelomeningocele. [Liptak: 2003]
  • Cystometrograms are then performed to evaluate the function of the bladder sphincter and the bladder detrusor muscle; if bladder pressure is high and/or reflux present, clean intermittent catherization should be started.

Subspecialist Collaborations and Other Resources

In many locations, specialized clinics are available to provide multi-disciplinary evaluation and care for children with NTDs. If this is not available, the Medical Home should collaborate with subspecialists and make appropriate referrals based on the child's needs. These might include neurosurgery, neurology, physiatry, orthopedics, nutrition, developmental pediatrics, neuropsychology or psychology, opthalmology, urology, and gastoenterology. Baseline evaluations with recommendations for follow-up care should be recommended by the Medical Home. For more on detail on the specialists, see the Ongoing Assessment or Treatment & Management pages.

Spina Bifida Clinics (see Services below for relevant providers)

When available, specialty care at a NTD-specific clinic (often called "Spina Bifida Clinic" is preferred.

Resources

Information & Support

For Professionals

Neural tube defects in the neonatal period (Emedicine)
Article by Richard G Ellenbogen, BA, MD, Professor and Chairman, Theodore S. Roberts Endowed Chair in Pediatric Neurosurgery, Department of Neurological Surgery, University of Washington; accessed 2/8/09.

For Parents and Patients

Support

Spina Bifida Association
A voluntary health agency, with 57 chapters, offers programs, education, advocacy, research updates and services nationwide.

General

Neural tube defects (MedlinePlus)
Provides a brief description and links to numerous reliable websites, from the National Library of Medicine.

Patient Education

Let's Talk About Spina Bifida (PDF Document)
from an educational series for parents and patients by Intermountain Healthcare

Services

Spina Bifida Clinics

Spina Bifida Clinic, more info...
100 Mario Capecchi Drive
Salt Lake City, UT 84113
Phone: 801-662-1675
http://intermountainhealthcare.org/xp/public/primary/docsclinics/clinics/spinabifida.xml

For other services related to this condition, browse our Services categories or search our database.

Helpful Articles

PubMed search for review articles on Neural Tube Defects in children for the last 3 years.

Brand MC.
Examining the newborn with an open spinal dysraphism.
Adv Neonatal Care. 2006;6(4):181-96. PubMed abstract

Authors

Authors: Paula Peterson APRN, PNP, 11/2008
Lynne M Kerr MD, PhD, 10/2008
Reviewing Author: Sarah Winter M.D., 7/2008
Content Last Updated: 2/2009

Page Bibliography

Fichter MA, Dornseifer U, Henke J, Schneider KT, Kovacs L, Biemer E, Bruner J, Adzick NS, Harrison MR, Papadopulos NA.
Fetal spina bifida repair--current trends and prospects of intrauterine neurosurgery.
Fetal Diagn Ther. 2008;23(4):271-86. PubMed abstract

Liptak, G.S.
Evidence-based Practice in Spina Bifida: Developing A Research Agenda.
Evidence-based Practice in Spina Bifida, 2003; Washington D.C.. / http://web.archive.org/web/20040701175406/http://www.sbaa.org/site/Doc...