Management of Omphalocele:
From Conception to Closure
Terry L. Buchmiller, MD
Brian Labow, MD
February 13, 2013
Department of Pediatric Surgery
Department of Plastic Surgery
Advanced Fetal Care Center
Boston Children’s Hospital
Conflict of Interest Disclosure
We have no financial
relationships with a commercial
entity producing healthcarerelated products and/or services.
Omphalocele Definition
– Central abdominal wall defect
– Herniation of abd contents into umbilicus
– Covered by membrane/ large peritoneal sac
• Not covered by skin
• Composed of fused peritoneum and
amniotic membrane
• Delicate avascular wall, 1 mm thick
• Occasionally intervening compartment
containing Wharton’s jelly
– Umbilical cord typically inserts slightly inferior
on sac
Embryology of Abdominal Cavity
• Celomic cavity
undergoes forward
expansion into umbilical
cord between wk 6-10
of fetal life
• Two lateral folds form
pleuroperitoneal canals;
destined to fuse with
cranial and caudal folds
Embryology
• Omphalocele results from
defect in migration of lateral
folds very early in
embryogenesis ~wk 3
– Always occur at umbilicus
– Rectus muscles insert more
laterally on costal margins
– Due to early event, often
accompanied by other
defects
History of Omphalocele
• Described in 16th Century by Ambrose Pare in
printed works
• 1802: Hey reported first successful repair
• 1887: Olshausen described skin flap
coverage after removal of membrane
• 1899: Alfield described painting sac with
alcohol to produce eschar, awaiting
contraction and epithelialization
History of Omphalocele
• 1953: Max Grob reported use of
mercurachrome with toxic effects later
described
• 1967: Schuster introduced staged reduction
using prosthetic mesh as he noted abdominal
cavity did not enlarge with skin flap coverage
alone
History of Omphalocele
2013: Currently no closure technique universally
accepted with ingenious methods still reported
–
–
–
–
Tissue expanders
VAC dressing
Skin grafting
Alloderm
–
–
–
–
Partial hepatectomy
Lateral relaxing incisions
Division of rectus muscles
Pneumoperitoneum
History of Omphalocele at BCH
• Chief of Surgery from
1947-1968
• “The Surgery of Infancy
and Childhood”
• Published in 1953
• Exactly 1,000 pages
• “The green bible”
Dr. Robert E. Gross
History of Omphalocele at BCH
• Abdominal organs “directly exposed to
view as if exhibited in a showcase’
• “Considerable judgment must be
exercised in determining how perfect of
a repair should be attempted”
Dr. Robert E. Gross
Current Demographics
– Occurs in 1 in 3,000 fetuses
– 1 in 5,000 live births
• Slight male predominence
• No racial predilection
• Risk of preterm birth 25-65%
• IUGR in 6-35%
Etiology
• Several animal teratogenic models, but
none truly recapitulate omphalocele
• Very rare familial occurrence, even more
rare in twins
• No specific gene or environmental cause
• Potential assoc with EtOH in 1st trimester;
heavy smokers (Natl Birth Defects Study)
• Can occur as part of syndromes
Remains unknown
Associated Conditions
• Cardiac ~ 45%
• Chromosomal defects (T18, 21) in 30-40%
• Intestinal malrotation in 28%
• Cryptorchidism
• Increased incidence of inguinal hernias;
Meckel’s diverticulum
• Pulmonary hypoplasia
• Musculoskeletal/ neural tube defects rare
Associated Syndromes
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•
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•
•
Beckwith-Wiedemann
Donnai-Barrow
Gershoni-Baruch
Fryns’
OIES
Pentology of Cantrell
Strongly consider prenatal
genetics evaluation
Beckwith-Wiedemann Syndrome
•
•
•
•
Macroglossia
Gigantism
Visceromegaly
Pancreatic islet cell
hyperplasia leading to
hypoglycemia
• Predisposition to
abdominal tumors
• Occurs in 1: 13,700
Genetic Testing for BWS
• ~85% cases are sporadic
• ~15 % inherited with 50% recurrence risk
• Dx by analysis of chromosome 11p15 by methylationspecific PCR to detect methylation errors, abnormal copy
number
• If negative, sequencing of CDKN1C recommended
• 1-3 wk turnaround for prenatal dx on amniocytes only
• Children with features consistent with BWS, but with
negative genetic test results should receive the same
medical management as those with a confirmed genetic
diagnosis
Beckwith-Wiedemann Syndrome
• Tumor Screening
– 10% develop malignancy
– Wilms in 5-7%
• Most prior to age 4
• US screen q 3 mo
• By age 8, 95% occur
– Hepatoblastoma
• AFP q 6 wk until age 4
• US as above
– Adrenocortical
www.beckwith-wiedemannsyndrome.org
Donnai-Barrow
– Omphalocele
– CDH
• Absent corpus callosum
– Hypertelorism
– Myopia
– Sensorineural deafness
– Likely autosomal
recessive; LRP2 gene
Fryns’ Syndrome
– CDH
– Coarse facies
– Acral hypoplasia
– Often
omphalocele
– Limited survival
OEIS
• Caudal Fold Defect
– Infraumbilical Omphalocele (usually not
containing liver)
– Cloacal Exstrophy (with ileal prolapse)
– Epispadias
– Diastasis of pubic rami
– Imperforate anus
– Spinal anomalies
Limb Body Wall Complex
(Body Stalk Anomaly)
•
•
•
•
Severe multiple congenital anomalies
~ 250 cases reported
Etiology remains unknown
Incompatible with survival
Limb Body Wall Complex
(Body Stalk Anomaly)
– Encephalocele
– Thoraco- and/or
abdominoschisis
– Limb defects
– +/- Facial clefts
– Short umbilical cord
– Severe spinal curvature
– Fetus appears “stuck”
to placenta
Pentology of Cantrell
• “Cephalic Fold Omphalocele”
– Supraumbilical abdominal wall defect
typically containing liver
– Heart or ventricular diverticulum in sac
through pericardial defect
– Central diaphragmatic tendon defect
– Lower sternal cleft
– Intracardiac anomaly
Prenatal Assessment
of Omphalocele
•
•
•
•
•
Elevated AFP (serum/AF); AChE (AF)
US
MRI
ECHO
Amniocentesis / CVS
– Abnormal karyotype in 30%
– More common in those with small defects
US Screening
• Increasing dx in 1st trimester
due to nuchal translucency
screening between 11-14 wks
• If seen very early in 1st
trimester, repeat US in 7-10 d
to assure not “physiologic”
• Stability of defect anticipated
• Study of choice in prenatal
period to assess fetal growth,
AF, delivery planning
13 wk US
MRI
• Preferred at >16 wk gestation
• Initial MRI exam useful in detecting
underlying syndromes
• Not typically repeated unless concern for
clinical change
Estroff, Buchmiller, et al. J Radiol In press
Giant Omphalocele MRI
Large omphalocele
containing liver (L) and small
bowel (SB)
L
Note umbilical cord (UC)
inserting into inferior aspect
the omphalocele
UC
SB
Assess hepatic vasculature
? stretched
MFM Perspective
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•
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•
•
Kings College London
Referral Fetal Medicine Centre
Retrospective study from 1991-2002
445 pts
3 cohorts formed based on karyotype
assessment, if obtained
Lakasing, Ciscero, Davenport, Patel, Nicolaides. JPS 2006
MFM Perspective
• Group A: Abnormal karyotype
– N=250 (56%)
• Trisomy 18 most common in 63%
• Trisomy 13 in 17%
• Trisomy 21 in 4%
• Turner’s syndrome in 6%
• Triploidy in 5%
• Rare chromosomal deletions in 5%
• Additional structural anomalies in 73%
Lakasing, Ciscero, Davenport, Patel, Nicolaides. JPS 2006
MFM Perspective
• Group A: Abnormal karyotype
– 91% requested termination
– 8% fetal demise
– Only 2 live births (trisomy 18) with comfort
care, ultimate neonatal death
Lakasing, Ciscero, Davenport, Patel, Nicolaides. JPS 2006
MFM Perspective
• Group B: Normal karyotype
– N=135 (30%)
– 54% had structural anomalies
– 47% TOP (usually not isolated anomaly)
– 14% fetal demise
– 31% live births
– 8% lost to F/U
Lakasing, Ciscero, Davenport, Patel, Nicolaides. JPS 2006
MFM Perspective
• Group C: Karyotype declined
– N=60 (14%)
– 63% structural anomalies
– 55% TOP
– 13 % fetal demise
– 19% live births
– 13% lost to F/U
Lakasing, Ciscero, Davenport, Patel, Nicolaides. JPS 2006
MFM Perspective:
Take home points
• Less than 10% of antenatal diagnosed pts
came to operative repair
– 55 live births
– 11 died preoperatively (anencephaly, major
CHD)
– 44 repaired, all survived
• Pts cared for by pediatric surgeon/ tertiary
care providers are a very select group
Lakasing, Ciscero, Davenport, Patel, Nicolaides. JPS 2006
Preparation for Delivery
• Coordinated delivery with MFM, NICU
• Cognizant of travel plans should preterm
labor occur
• Ave age of delivery 36.6 wks
• Ave birthweight 2.9 kg
• Unclear need for C section unless defect
>5 cm
• Delivery at tertiary care center essential (if
not opting for comfort care)
Delivery Room Management
• Surgical presence at delivery optimal
– Observe C section
– ABC’s
– Is sac intact?
– Place NGT
– Stabilize liver in extreme cases (Kerlix roll)
– Provide moist coverage of membrane
– Enable family celebration of birth
Initial NICU Management
• Maintain temperature
• Respiratory support
• PE to rule out associated (midline) anomalies
– Trisomy 13, 18, 21
– Beckwith-Wiedemann
– Rectal exam R/O imperforate anus/ evacuate
meconium
• Protect sac with xeroform/ moist gauze,
especially under warming lights.....
• No urgency for repair unless sac ruptured
Ruptured Giant Omphalocele
Majority born prematurely
Typically fatal due to
respiratory failure; sepsis
Subsequent Management
• Assess size of defect
– Small, medium, large, giant
– Is the hepatic vasculature at risk?
• Reassess potential for associated conditions,
even if “cleared” during fetal period
– Prematurity may alter surgical closure plan
– Cardiac disease
– Urgent genetics consult if life threatening
association suspected
Postnatal ECHO
• Still repeated even if prenatal study nl
• Most common defect VSD
• ECHO windows often compromised by
inability to visualize in substernal area
• May need surgical presence to facilitate
performance of study and protect sac
Role of Newborn US
• Abd US if ? about hepatic
blood flow in giant defect
• Surgical presence
paramount for effective
study
• Assess in decubitus
positions
Essential Management
DOL 1
• Continue ABC’s
• Protect membrane
• Assist bedside providers in understanding
positioning concerns
• PICC
Operative Planning
Historic Notes on
Omphalocele Repair
• Gross noted postoperative condition after repair
could be quite precarious; whenever a large portion
of liver contained a grave outlook was expected
• Essential to devise a method to avoid intra-abdominal
crowding of organs at first operation
– Diaphragm displaced upward causing respiratory
disturbance, cyanosis, death
– Pressure on IVC impedes return of blood leading
to circulatory collapse
– Pressure on stomach/intestine leads to partial /
temporary obstruction (pre-PN)
When Considering Operative Repair
“Primum non nocere”
Avoid abdominal
compartment
syndrome at all costs
...........And provide a cosmetic umbilicus
Methods to Assess Potential
Abdominal Compartment Syndrome
• Saphenous vein IV that will not drip
with gravity
• Bladder pressure via foley or NG
pressure > 20 mmHg
• PE
• Clinical judgment
Adjunctive Points to Consider
During Closure
• Most do not recommend a Ladd procedure or
appendectomy
• If testicle intraabdominal, place near ring; in
most cases scrotal descent will occur by age
one year; NO orchidopexy
• Consider gastrostomy if significant
cardiopulmonary compromise
• Be gentle on liver; do not kink HV, PV, or
rupture capsule....Budd Chiari reported
Omphalocele Closure Options
• Primary closure
• Immediate staged closure with mesh
prosthesis for serial reduction
• Delayed closure
– Operative skin closure, period of
waiting, later definitive closure with
repair large ventral hernia
– “Paint and Wait”
Can Fetal MRI Predict Closure?
• N=9 (Mixed GS and omphalocele)
• MRI volumetry performed; manual 3D tracing
• Calculated Exteriorized Ratio=
Exteriorized Viscera/Volume Abdominal Cavity
• ER 1.39 in staged closure, ER 0.33 in closure
• Quantifies clinical judgment
• Very limited study, but increasing interest
Takada, Hamada, Kamiyama. JPS 2006
Omphalocele Closure Options
• Primary closure
• Immediate staged closure with mesh
prosthesis for serial reduction
• Delayed closure
– Operative skin closure, period of
waiting, later definitive closure with
repair large ventral hernia
– “Paint and Wait”
Small Omphalocele
• Occasionally small irregular
liver segment in sac
• If bowel, can reduce and tie
with umbilical tape if
associated disease
• Genetics consult as
associated syndromes more
common
Schematic of Primary Closure
Dr. Gross’
• Skin edges freed
• Sac removed
– Leave on liver if
difficult to peel off to
avoid bleeding
• Viscera reduced
• Peritoneum closed
• Fascia closed
– Often difficult to
oppose upper rectus
• Skin closed
Omphalocele Closure Options
• Primary closure
• Immediate staged closure with
mesh prosthesis for serial reduction
• Delayed closure
– Operative skin closure, period of
waiting, later definitive closure with
repair large ventral hernia
– “Paint and Wait”
Silastic Silo
• If used, suture to abd wall
• Apply abx ointment at edges
• 0.007 in Dacron reinforced
Silastic alternative
• Assess reduction 30 min post
procedure
• Assess for tightening BID
MEDIUM OMPHALOCELE:
Schuster approach
DOL 1
DOL 2
Omphalocele Closure Options
• Primary closure
• Immediate staged closure with mesh
prosthesis for serial reduction
• Delayed closure
–Operative skin closure, period of
waiting, later definitive closure
with repair large ventral hernia
– “Paint and Wait”
First Stage Skin Closure
• Liberate skin edges
• Can close skin over sac
if adherent
• Never free up skin over
chest further than
necessary as to not
displace viscera during
reduction
Dr. Gross
“Paint and Wait”
• Can be utilized if significant cardiac disease,
prematurity, chromosomal anomaly to buy
time, even in small defects
• Preferred in most giant omphalocele pts
Eschar Formation
6 wks
Occasionally, brace used for protection...
Epithelialization
• Caloric needs often
very “robust”
• Caloric needs often
very “robust”
• Feeding tube
supplementation
• Supplemental tube
feeds often needed
3 mo
Potions to “Paint and Wait”
• Escharotic Agents
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–
–
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Mercurachrome
Silver nitrate solution
Betadine
Silvadene
Mecurachrome
2% Merbromin solution
abandoned d/t
mercury poisoning
0.25% solution used in
Europe BID w/o
complications
Rare contemporary use
Silver Nitrate Solution
•
•
•
•
0.5% solution
Bacteriostatic
Encourages epithelialization
Hypotonic; draws Na into
dressing; monitor serum Na
• Stains linens, skin
• No longer recommended
Betadine
• Promotes epithelialization and escharizaton
• 10 yr review; 6 GO pts
• 10% povidone-iodine used qD or qoD
– Diluted 1:4 with saline in 5, 1:10 in one
• TFT’s weekly inpt; mo as outpt
• Transient elevation TSH noted, normalized by
following wk; Nl free T4, thyroxine
• No thyroid replacement therapy needed
• Frequency of dressing changes decreased in one
• Safe, but monitoring recommended
Whitehouse, Sato, Arca. JPS 2010
Silvadene
• Bacteriostatic, used in burn sepsis prevention
• May impair G6PD
– Methemoglobinemia, hemolysis,
hyperosmolality
• 2 pt with toxic serum levels (x200 adult)
reported by Lander JPS 2010
• No toxic sxs (incr LFT, seizures)
• Consider monitoring CBC, silver levels, very
thin layer, or avoidance
Silvadene
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•
•
•
•
20 infants with defect >10 cm
20 gm spread over thin layer, gauze cover qD
Mean use 5 mo at cost $1/day
Turns eschar black due to silver
Silver levels not monitored, but no toxicity
demonstrated
• Routine use supported
Ein, Langer. JPS 2011
“Paint and Wait”
Dr. Gross’ observations
• Mother apt to be apprehensive about potential
rupture of protruding mass; reassure her this has
never happened
• Considerable distension during crying or straining
• Child may be bathed
• A 4-6 inch Ace wrap serves admirably
• Wait until the abdominal cavity has grown large
enough so that it can receive the organs without
crowding
Dr. Gross’ Observations
• Plan final closure
when....
– the sac wall can be
readily picked up
between the
examining fingers
– the viscera can be
pushed back into the
abdominal cavity
Skin Laxity
Epithelialized Sac Suspension
Utilized to promote visceral reduction preoperatively to
lessen time of mesh; potentially decrease infection risk
Silo Reduction
Final Closure
• Prepare for full complement of closure
techniques
• Partnership with Plastic Surgery team in
select cases
Surgical Management of
Omphalocele: A Plastic Surgeon’s
Perspective
Brian I. Labow, MD, FACS, FAAP
Department of Plastic Surgery
Children’s Hospital Boston
Harvard Medical School
Introduction
• Heterogenous population and associated
anomalies common
• Many approaches, techniques and tools
• No single approach will suit all patients
• Outcome data based limited by numbers and
confounding variables
Outline
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•
•
•
General considerations
Tools/techniques
Adjuvant procedures
Summary
General Comments
• Usually not an emergency
• Most cases can be managed
with “conventional
approaches”
• Circumstances may mandate
change in course…
Clinical Situation?
• Medically unstable
• Damage control (e.g. ruptured membrane,
silo disruptions)
• Incomplete reduction
• Extreme visceral-peritoneal disproportion
Tools and Techniques
Negative-Pressure Wound Therapy
• NPWT/VAC™ hopefully not
necessary!
• Decrease edema and bacterial
colonization accelerate granulation
• Used with absorbable mesh,
biological fascial substitute
• Bridge to definitive reconstruction
(Kilbride et al. J Ped Surg (2006) 41,
212–215)
Tissue-Expansion
• Mechanical process to increase surface area of
adjacent tissues
• Examples: Growth, Silo, External Skin closure
devices
• Adjunct to flap transfer
• Progressive process takes time
Tissue-Expanders
• Tissue expanders require a clean
field with minimal inflammation
• Epidermis thickens, dermis and
fat atrophy, muscle thins,
angiogenesis
• Multiple expanders, small,
frequent fillings
Tissue-Expanders
• Subcutaneous,
submuscular and
intraperitoneal placement
all reported
• Small case series, longest
follow-up 3 yrs
(Tanenbaum et al. Plas Rec Surg (2007)120,1564–7)
Tissue-Expanders
• Useful in a subset of patients
• Additional GA, time and good local tissue
conditions required
• Judgment in rate of expansion
• Extrusion and infection most frequent
complications
Component Separation
• Relaxing incision(s) separating
rectus sheath from ext obliq
aponeurosis
• Autologous tissue, 1-stage
• Skin deficit?
• Large experience in adults
Component Separation
• 1 series of 10 consecutive omphalocele patients (mean
age 6.5 months) Van Eijck et al. J Ped Surg (2008)
• Mean defect size 8 cm
• Required temporary prosthetic in 1 case
• Complications in 3 patients (skin necrosis, hematoma,
infection)
• Mean follow-up 2 years, no hernias
Absorbable Mesh
• Usually a lifeboat
• Allows egress of fluid,
visualization of bowel
• Used with NPWT
• Lasts 3-4 months….hernia
• Cost Vicryl™ 15x 15” $1800*
* BCH list price 2013
Non-absorbable, Meshed
• Allows tissue ingrowth,
stronger
• Higher rate of enterocutaneous
fistulae
• Onlay support
• Cost e.g. Marlex™ 10x14” $500
Non-absorbable, Non-meshed
• Temporary use silo construction
(e.g. Silastic™)
• No ingrowth, minimal adhesions
• Permanent use (e.g. Goretex™)
higher hernia rate?
• Cost* $600 for 10x15”Goretex™
* BCH list price 2013
Biological Materials
• Variety of freeze-dried,
acellular dermal or intestinal
products (e.g. Alloderm™,
Surgisis™)
• Inlay graft or onlay above
fascia
• Neovascularized, tissues
replaced by native cellular
ingrowth
Biological Materials
• Small series/case reports in pediatric literature
(Alaish et al. J Ped Surg (2006) 41, E37–E39)
• Variable reports in adult abdominal wall
reconstruction literature
• Cost has come down, 5x10” sheet of Alloderm™
~$1800*
* BCH list price 2013
Flaps
• Local tissues usually
sufficient
• Mobilization wide
undermining
• Can be facilitated with
relaxing incisions
Zama et al. Br Assoc Plas Surg (2004) 57, 749–753
Flaps
Br Assoc Plas Surg (2004) 57, 749–753
Adjunctive Procedures
• Skin closure: secondary
but important part of
reconstruction
• Umbilicoplasty if possible
• Secondary procedures:
hernias, bulges,
hypertophic/depressed
scar
Adjunctive Procedures
Long-Term Follow Up
• Postnatal survival rates 70-95%
• Mortality related to associated cardiac and
chromosomal anomalies
Rijwani, Davenport, Dawrnat. et al. J Pediatr Surg 2005
Incidence of Bowel
Obstruction
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•
•
•
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170 abd wall defects; 111 w/ omphalocele
10 yr median F/U
12/92 (13%) incidence of adhesive SBO
85% occurred in 1st yr
88% underwent laparotomy
Sepsis and fascial dehiscence risk factors in
entire cohort
Van Eijck, Wijnen, van Goor. JPS 2008
Neurodevelopmental
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•
•
•
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Cohort from CHOP with GO
31 pts
Overall survival 81%
20 survivors enrolled in prospective F/U
Age > 6m, had Bayley (BSID-II,-III)
Danzer, Flake, Adzick, Hedrick. JPS 2010
Neurodevelopmental
Median age at evaluation 12 mo
• Motor skills:
– Normal 40%
– Mildly delayed 13%
– Severely delayed 47%
• Cognitive/Language skills:
– Ave 40%
– Mildly delayed 13%
– Severely delayed 40%
Of 6 with severe delays:
2 autism
4 tracheostomy
1 Williams syndrome
Danzer, Flake, Adzick, Hedrick. JPS 2010
Pulmonary Hypoplasia
• Definition nebulous, often based on
clinical course
• Require long-term vent support
• ? “permanently limited” reserve
• High postoperative mortality 30-60%
Assessment of Early
Pulmonary Function in GO
• N=14, mean age 19 mo
• PFT’s
– Spirometry
– Fractional lung volume assessment
– Bronchodilator responsiveness
– Passive respiratory mechanics
Danzer, Hedrick, Panitch. JPS 2012
Assessment of Early
Pulmonary Function in GO
•
•
•
•
•
•
FVC, mean Forced Exp Vol, TLC
FRC normal
Restrictive pattern demonstrated
responsiveness to bronchodilators
Reduced lung compliance
Undetermined clinical significance
Danzer, Hedrick, Panitch. JPS 2012
Can Pulmonary Function be
Predicted Prenatally?
• Fetal MRI assessed at ~26 wks (N=17)
• Observed/Expected TLV calculated vs.
age-matched fetal nomograms
• Mean O/E TLV 52% (+/- 17%)
• Age at delivery 37 wk
• Survival 94%
Danzer, Victoria,Hedrick. JPS 2012
Can Pulmonary Function be
Predicted Prenatally?
• 88% staged reduction
• Infants <50% O/E TLV
– Lower Apgar scores
– Prolonged ventilatory support
– Delayed oral intake
– Longer hospitalization
Fetal MRI predictive of postnatal morbidity
Numbers small, but.....a start
Danzer, Victoria,Hedrick. JPS 2012
QOL Studies
• Tunell series of mixed abd wall defects
• 88% reported good health; 80% good QOL
• 40% concerned about height, inadequate in
sporting/ social activities
• Educational levels equal to general population
• Many report absence of umbilicus caused
psychologic distress
Long Term F/U Challenges
• Most case reports, small series, single
center F/U
• Typically includes gastroschisis
• Definition of giant omphalocele diverse
• Are defects containing the whole
liver/all viscera different?
Parental Perspective
“People turn to social media for answers which
can be greatly helpful, but also dangerous as
parents generalize their experience and their
child's condition in counseling other parents.
I think the world, is in need of some really
good long term follow up on these kids to
change the perspective surrounding survival
and short/long term complication statistics.”
Long-Term F/U Needed
Summary
• No single “right way” to manage but
optimistic outcome in absence of severe
congenital heart disease/chromosomal
anomalies
• Situation dependent
• Numerous tools/techniques available
• Outcome data needed
Thank You!