Developed by The Center for Fetal Diagnosis and Treatment at The Children's Hospital of Philadelphia, this guide provides an overview of fetal fetal surgery for myelomeningocele (MMC), the most common and severe form of spina bifida, including confirmation of the diagnosis, patient criteria for fetal surgery, the surgical procedure, delivery and follow-up care.
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Fetal Surgery for Spina Bifida
1. Fetal Surgery for Myelomeningocele
1-800-IN UTERO (468-8376) • fetalsurgery.chop.edu
2. A Guide to Specialized Fetal MMC Surgical Repair
Since December 2010, fetal surgery for myelomeningocele
(MMC), the most common and severe form of spina bifida,
has been offered as a standard of care at The Children’s Hospital
of Philadelphia. This is one of the most exciting developments
in the history of treatment for birth defects.
An extremely complex procedure available only to qualified
candidates, fetal surgery for MMC requires significant
commitment on the part of mothers who choose to go forward
with it and extensive surgical experience to perform successfully.
Mothers who choose fetal surgery require comprehensive
counseling on the condition and the risks involved in the
procedure.
This guide provides an overview of fetal MMC repair,
including confirmation of the diagnosis, patient criteria for
fetal surgery, the surgical procedure, delivery and follow-up
care. We welcome the opportunity to discuss individual
candidates for referral.
3. Types of Spina Bifida
2
• MMC (Myelomeningocele)
s
• Myeloschisis
1
• Lipomeningocele
• Myelocystocele
Open neural tube defects
such as myelomeningocele
and myeloschisis are
treatable by fetal repair.
Fetus with myelomeningocele
Closed neural tube defects 1. Part of the spinal cord and spinal nerves, usually encased in a sac, protrude
such as lipomeningocele and through an opening in the back and are exposed to the amniotic fluid.
myelocystocele are not 2. Arnold-Chiari II Malformation • The brain stem (hindbrain) descends, or
herniates, into the spinal canal in the neck and blocks the circulation of
treatable by fetal repair.
cerebrospinal fluid. This can cause a damaging buildup of fluid in the brain
called hydrocephalus.
4. Facts About Myelomeningocele (MMC)
• Most common and serious form of spina bifida Long-term
• Primary failure of neural tube formation (closure) Consequences
• Genetic and micronutrient causes • Hydrocephalus
• 1 per 2,000 live births, or 1,500 babies in U.S. each year • Hindbrain herniation
complications
• 14% die before age 5; 2/3 due to hindbrain • Ventriculoperitoneal
herniation complications shunting
• 85% require shunts; 45% of shunts develop • Paralysis and cognitive
complications within 1 year impairments
• Orthopaedic malformations
• Up to 4% recurrence risk in subsequent pregnancies (such as club foot)
• Bladder and bowel
incontinence
• Sexual dysfunction
• Social and emotional
challenges
• Lifelong quality-of-life issues
5. Motor Impairment Related to Level of Defect
Cervical 1
2
3
MMC can occur Areas below the level of 4
5
at any level in the defect will be affected. 6
7
the developing 8
This illustration shows a Thoracic 1
spine, but occurs defect at the L 4-5 level.
2
3
most often in 4
5
the lumbosacral 6
7
region. 8
9
10
The higher the 11
defect on the 12
Skin
spine, the more Lumbar 1
Muscle Areas Affected
Sac 2
severe the Hip
3
complications. 4
Knee
Exposed nerves Ankle (dorsiflexors)
5
Great Toe
Sac Sacral 1
Ankle (plantarflexors)
2
3 Bowel & Bladder
4
5
6. Steps in Making the Diagnosis
1. Maternal serum alpha-fetoprotein (MSAFP) test.
Abnormally high AFP levels can suggest neural
tube defect.
2. Level II ultrasound to confirm spinal defect, determine
level of lesion, confirm features in the brain that
indicate spina bifida and assess deformities such as
talipes (club foot).
3. Amniocentesis to confirm presence of elevated
amniotic fluid alpha-fetoprotein (AFAFP) levels and
acetylcholinesterase (AChE), which indicates open
(vs. closed) neural tube defect. Amniocentesis is
required to be considered for fetal surgery.
7. Rationale for Fetal MMC Surgery
Results of Management of Myelomeningocele Study (MOMS)*
Spinal cord damage showing outcomes after prenatal repair vs. postnatal repair:
is progressive during
gestation. Fetal MMC • Reduced need for ventricular shunting at 12 months of age
(40% of prenatal surgery group, compared to 83% of
surgery may prevent postnatal surgery group)
further damage and
• Reduced incidence or severity of neurologic effects, e.g.,
reverse the hindbrain impaired motor and sensory function of legs
herniation feature
• Improved ambulation at 30 months of age
of the Arnold-Chiari II
• Reversal of hindbrain herniation component of Arnold-Chiari II
malformation. malformation
Before surgery After surgery
*N. Scott Adzick, M.D. et al.,“A Randomized Trial of
Prenatal versus Postnatal Repair of Myelomeningocele,”
N Engl J Med. 2011 Mar 17;364(11):993-1004.
Epub 2011 Feb 9.
8. When is Fetal Surgery for MMC an Option?
Partial list of inclusion criteria:
• Singleton pregnancy
• Maternal BMI < 35
• Confirmed presence of elevated AFAFP
and AChE
• Confirmed normal genetic testing
• Absence of associated fetal anomalies
• Myelomeningocele at level T1 through S1
• Arnold-Chiari II malformation There is an extensive list of
(hindbrain herniation)
inclusion and exclusion criteria
• Gestational age at time of fetal surgery
for fetal MMC repair at CHOP.
≤ 25 weeks, 6 days
For a complete listing, visit
• Maternal age ≥ 18 years
fetalsurgery.chop.edu/spinabifida
or call 1-800-IN UTERO (468-8376).
9. Evaluation at the Center for Fetal Diagnosis and Treatment
Diagnostic testing:
A comprehensive
multidisciplinary • High-resolution level II ultrasound to confirm location of MMC
evaluation. and assess for other birth defects
• Ultrafast fetal MRI to confirm presence of Arnold-Chiari II
malformation and screen for evidence of other brain or spinal
abnormalities and any other structural defects not related to MMC
• Fetal echocardiogram to evaluate heart structure and function
continued
s
Ultrasound Fetal MRI
Near Right:
Ultrasound image showing
myelomeningocele sac containing
neural elements
Far Right:
Fetal MRI showing hindbrain
herniation, myelomeningocele sac
containing neural elements and no
extra-axial cerebrospinal fluid
10. Evaluation at the Center for Fetal Diagnosis and Treatment
continued
Patient counseling and education:
• Review of spina bifida and associated medical problems, and prenatal
and postnatal options with obstetrician and neurosurgeon
• Physical exam of mother, review of medical history and clearance
for surgery by anesthesiologist and obstetrician
• Review of pre- and postnatal care and monitoring
• Neonatology counseling about possible preterm birth
• Review of medications necessary before, during and after
prenatal surgery
• Social work psychosocial evaluation to assess readiness for surgery,
coping mechanisms and family support
• Review of surgical procedure (if opting for fetal surgery) and its risks
with fetal surgeon. Risks include uterine scarring, membrane
separation, infection, bleeding, prematurity and fetal demise.
11. Fetal MMC Surgery
• Mother and fetus receive general anesthesia
• Fetal surgeon performs laparotomy and uterus is opened with uterine
stapling device that pinches off all blood vessels and keeps membranes
tacked up to muscle layer of uterus
• Sterile intraoperative ultrasound is performed by maternal-fetal
medicine specialist
• Fetus’ back is rotated into view
• Fetal cardiologist performs continuous fetal heart monitoring
by echocardiography
• Pediatric neurosurgeon resects MMC sac from exposed spinal cord
(neural placode) and skin edges, returns cord to spinal canal, and closes
surrounding tissue and skin over defect
• Uterine and abdominal incisions are closed
N. Scott Adzick, M.D. et al.,
“A Randomized Trial of Prenatal
versus Postnatal Repair of
Myelomeningocele,” N Engl J Med.
2011 Mar 17;364(11):993-1004.
Epub 2011 Feb 9.
12. From Fetal Closure to Delivery
• Mother remains in hospital 3 –5 days if no complications
• Modified bed rest for 3 – 4 weeks; restricted activity until delivery
• Weekly ultrasound monitoring
• Goal is planned c-section at 37 weeks
• Postnatal care in Newborn Intensive Care Unit (NICU)
13. NICU Stay
Upon admission, • Head ultrasounds day of life 0 and prior to discharge
multidisciplinary • MRI of brain and spine
consult with: • Daily head circumference
• Neurosurgery • Renal and bladder ultrasound day of life 2
• Urology • Bladder scans with handheld ultrasound device every 4 hours
for first 48 hours to estimate amount of urine in bladder
• Orthopaedics and whether baby requires catheter
• Physical Therapy • Clean intermittent catheterization if bladder volume is greater
• Spina Bifida Clinic than 50 percent of expected volume
• Video-urodynamics day of life 2 and then at 2 months of age –
special catheter measures pressure when bladder is full; soft catheter
in rectum measures abdominal pressure on bladder; uroflow chair
measures urine flow rate and time needed to empty bladder
• Urinary tract infection prophylaxis
• Evaluation for shunt
14. Follow-up
Our Center is committed • Patients receiving follow-up care through CHOP are seen
to the comprehensive in our Spina Bifida Clinic the nation’s first program to
bring a multidisciplinary approach to long-term follow-up.
long-term follow-up of
The clinic includes experts from pediatrics, nursing,
our patients, to provide neurosurgery, orthopaedics, urology, physical therapy,
the best care for children social work and genetics.
and their families, • Follow-up includes visits every four to six months until
and to continuously gain age 2, then annually, with urodynamic testing and renal
new knowledge so that bladder ultrasounds to ensure kidneys function properly
we can advance care for and bladder function is stable.
future generations. • Depending upon location of lesion and outcome after surgery,
follow-up may also include: Clean intermittent catheterization;
bowel management; lower extremity bracing; physical therapy
evaluation and guidance to outside physical therapists and
early intervention; pressure sore management; referral to
appropriate psychosocial and financial resources; consultation
with other subspecialties including ophthalmology,
nephrology, nutrition and feeding team, and plastic surgery.
15. CHOP Experience in Fetal MMC Repair
Suspected prenatal diagnosis An unparalleled level of
of myelomeningocele (MMC) continuous experience:
since September 1995:
• Leaders in development
and research of fetal MMC
Patient referrals: Over 1,450 repair for over 30 years
Patient evaluations: Nearly 700 • First fetal MMC repair
performed in 1998
Fetal surgeries: Over 125
• Performed 58 fetal MMC
repairs, meeting strict
About 1 in every 3-4 patients evaluated inclusion criteria, before
is a candidate for fetal repair. start of MOMS trial
• More than 800 fetal surgeries
(all diagnoses) for patients
from all 50 states and more
than 50 countries
Center for Fetal Diagnosis and Treatment at CHOP, data on file as of 1/31/12
16. Key Resources
The Children’s Hospital of Philadelphia
• Center for Fetal Diagnosis and Treatment
fetalsurgery.chop.edu/spinabifida
1-800-IN UTERO (468-8376)
• Spina Bifida Clinic
215-590-2483
Spina Bifida Association of America
www.sbaa.org
Centers for Disease Control and Prevention
www.cdc.gov/ncbddd/spinabifida
Spina Bifida Connection
http://spinabifidaconnection.com
March of Dimes
www.marchofdimes.com