4. 1.1 Omphalocele/exomphalos
• Greek words "omphalos“ = naval, and "cele“= pouch.
• Median abdominal wall defect into which abdominal contents herniate
• Persistent of abdominal contents in to proximal(base) part of umblical
• No abdominal muscles, fascia and skin near the umblicus
• Covering of hernial sac is peritoneum and amnion
• 1/5,000 births only bowel , 1/10,000 births with liver
Liver containing omphalocele
• – Primary failure of body wall closure (5-8 weeks)
Bowel only omphalocele
• – Failed return of physiologic gut herniation (6-10 weeks)
• Chromosomal abnormalities (30-40%) in utero, less common at birth
(IUFD or termination)
― Trisomy 18 (most common), 13,21, Triploidy
• Syndromes include: Beckwith Wiedemann syndrome, pentalogy of
Cantrell, cloacal exstrophy….
Associated structural abnormalities;
• 25-30% of cases
– CVS: 50% of associated anomalies
– GIT: 40% ; Malrotation always present
; bowel atresias
– Others: MSK, CNS,GUS
7. Diagnosis of omphalocele
1. Antenatal ultrasound;
• T1WI ; Best for showing if colon is involved
– Meconium has high signal
― Liver dark
―Fluid-filled bowel is bright
; Helpful to evaluate suspected additional anomalies
8. Ultrasonographic findings;
• Best diagnostic clue;
• Smooth midline protruding abdominal wall mass covered by
• Color Doppler shows cord inserts on mass
• Smaller AC
1. Size ; varies depending on content of omphalocele
– Large if liver involved (> 8 cm called giant)
– Small if liver not involved (bowel only)
9. U/s cont…
2. Contents ; well seen with ultrasound;
• Liver + SI is most common
• Larger defects with spleen, bladder, stomach
• Multiple bowel loops , usually seen as echogenic (non-fluid filled bowel)
• look for peristalsis
3. Umbilical cord inserts onto membrane(Color Doppler)
– Usually centrally but can be eccentric
10. U/s cont…
4. Omphalocele membrane
―Peritoneum on inside and amnion on outside with sandwiched Wharton jelly
―Mostly thin but can also be multicystic (from cystic degeneration of WJ)
5.Ascites is common
– Almost always present by 3rd trimester
6. Polyhydramnios is common
7. fetal anatomic scan
Always look for features of syndromes and chromosomal abnormalities
when an omphalocele is seen
Physiological gut herniation ;
• Presents as a mass at umbilical cord insertion
• Consider only < 11.4 weeks / CRL < 55 mm
• Should not exceed 7 mm in diameter and never contain the liver
• Bowel wall thickened and dilate , look UCI
Bowel floating in ascites ; mimic floating bowel in amniotic fluid
• seen with gastroschisis
Umbilical Cord Cyst
• Often coexist
• Cysts near abdominal wall insertion site can mimic bowel herniation
• 1st-trimester cysts tend to resolve
• Depend on size and associated anomaly
• Survival is 80-90% if normal chromosomes and no syndromes/ other
• Giant omphalocele with mortality of 25%
• Stillbirth and neonatal death rates correlate with associated anomalies
• Delivery at tertiary care
• Benefits of cesarean section controversial
(May be recommended in cases of very large omphaloceles)
• Surgical treatment based on size
○ Primary closure if small
○ Delayed surgical closure if large
13. Omphalocele containing liver.
A: Sagittal image of fetus demonstrating large omphalocele (arrow) containing a region of
homogeneous tissue representing liver (L).
B: Color Doppler image of large omphalocele (arrow) showing vessels in the herniated portion of
the liver (L). Umbilical vessels (arrowhead) are seen inserting into the omphalocele sac.
15. 1.2. Gastroschisis
• Greek gastro (stomach) plus schisis (split), misnomer
• Herniation of the intraabdominal contents through a full thickness
paramedian abdominal wall defect,
• Usually measures 2-4 cm
• Not involve the umblical cord
• Usually on the right side, lateral to umbilicus (rare left-sided)
• More common in male,
• No membrane and floats freely in the amniotic fluid
16. Incidence; 1/2,000 births, usually SI
• Most are sporadic
• Chromosomal syndromes 1.2% and nonchromosomal syndromes (0.7%).
• GI abnormalities (80-90%)
• Malrotated or nonrotated bowel in all cases
17. Etiology; unknown
Failed closure of ventral body wall at 5-7 weeks
• Deficient mesoderm may be etiology of abnormal body wall folding
• Ischemic injury to anterior abdominal wall (MC)
• Weakness of the wall by abnormal involution of right umblical vein
T2WI ; High signal in exteriorized bowel loops
• Helpful when visualization compromised
( Maternal obesity, oligohydramnios…)
• Helpful to evaluate suspected additional anomalies
20. u/s cont…
1. Contents ;
– Large amount of bowel "out" is typical
□ Small bowel always involved
□ Large bowel often involved
– Stomach and bladder may externalize
– Rarely liver
• Simple gastroschisis (80-90%)
No additional anomalies, no significant bowel dilation
• Complex gastroschisis ; dilated bowel, extruded liver, other anomalies
21. u/s cont…
2. Bowel dilation (> 7 mm considered dilated)
– Extracorporeal bowel dilation is common (88%)
• Not predictive of bowel atresia
• Progressive as pregnancy advances
– Intraabdominal bowel dilation (IABD) more predictive of bowel
• > 14 mm associated with ↑ rates of atresia (29%)
• IABD < 14 mm with 91% negative predictive value for atresia
3. Bowel wall appearance
– Thickened, echogenic, matted, nodular
• 2° chemical peritonitis from amniotic fluid exposure
• Fibrinous, serosal deposit "peel"
– Associated with atresia, other bowel pathology
22. u/s cont…
4. Stomach often malpositioned
– Stomach "pulled" toward UCI
5. Oligohydramnios more common than polyhydraminos
– Poly. suggests atresia /obstruction
6. Fetal growth restriction (25%)
7. Pulsed Doppler
○ Abnormal umbilical artery flow associated with FGR, bowel obstruction,
8. Color Doppler to locate the cord in relation to the herniation.
23. Gastroschisis with progressive bowel dilatation
A: Transverse color Doppler image of abdomen in 18-week fetus nondilated loops of free flowing
bowel (arrow) herniated through gastroschisis defect. The umbilical cord insertion (arrowhead),
with flow visible in the umbilical vessels with color, is intact.
B: Image of abdomen in same fetus at 32 weeks demonstrating dilatation of the herniated bowel
(arrows) in the gastroschisis
25. Natural History & Prognosis
• Condition of the bowel at birth is the single most important prognostic
• Greater dilation of the bowel loops suggests poorer prognosis, especially
if over 20 mm
• simple gastroschisis approaches 100%
• Complex; mortality rates 28-50%
- Most consider lethal if liver involved
• Intra-uterine mortality rate of 10-15%.
No consensus on time of delivery and time of surgical treatment
Wide variability in institutional practice patterns
Recent study shows prevalence of IUFD does not ↑ at > 35 weeks
Primary closure versus delayed closure
Most infants are treated surgically on the first day of life.
Delivery at tertiary care center
○ Careful control of body fluids and heat loss
○ Increased risk of bowel injury due to improper handling during transport
27. Complications of gastroschisis;
• In utero bowel obstruction and perforation
• Peritonitis; meconium peritonitis
• Necrotizing enterocolitis
• Short gut syndrome
• Fistula formation
28. Umblical hernia
• When the intestine returns to the abdominal cavity during the 10weeks
and then later herniate again through an imperfectly closed
• The umblical scar fails to form or weak
• Common type(10%) of newborns and common in prematures
• Usually the greater omentum and part of SI, is covered by subcutaneous
tissue and skin,
• Usually ranges in diameter from 1 - 5 cm and the defect is via the linea
29. • Usually the hernia doesn’t reach its maximum size until end of 28 days
• It protrude during crying, straining or coughing
• Surgery is usually not indicted unless the hernia persists to the age of 3
to 5 yrs
30. types Physiologic hernia omphalocele gastroschisis Umblical hernia
Stages of anomaly 6- 12weeks 3-5weeks 5-6weeks After birth
Genetics Sporadic familiar Sporadic sporadic
Small intestine Small intestine,
SI Usually greater
omentum, smt SI
Cord insertion and
covering of hernia
On apex of
herniated sac, skin
to left of
SC tissue and skin
Other anomaly Rare Common Less common Less common
Not reported 30-40% rare rare
Table comparing different types of anterior abdominal wall defects
31. 2. Errors of rotations;
2.1 Non-rotation of the midgut loop
2.2 Reversed rotation of the midgut loop
2.3 Mixed rotation of the midgut loop
32. 2.1 Non-rotation of the midgut loop
• Also called left sided colon
• Normal first 90 degree anticlockwise rotation
• Fails to undergo the next 180-degree counterclockwise rotation
• As a result, the SI lies on the right side of the abdomen, and the entire LI
is on the left side.
• The cecum and appendix lie just inferior to the pylorus of the stomach
• Usually asymptomatic
34. 2.2 Reversed rotation
• Normal initial 90-degree counterclockwise rotation
• but the second 180-degree rotation occurs clockwise , so the net
rotation of the midgut is 90 degrees clockwise.
• Duodenum lies anterior to SMA and transverse colon is posterior to SMA
Transverse colon may be ;
Obstructed by pressure from SMA
36. 2.3 Mixed rotations / Malrotations
• Failure of the midgut loop to complete the final 90 degrees of rotation
• Improperly positioned and incompletely fixed intestine are prone to
• The cecum is fixed to the posterolateral abdominal wall by peritoneal
bands that pass over the duodenum.(DO)
37. • When midgut volvulus occurs, the SMA may be obstructed, resulting in
infarction and gangrene of the intestine.
• In utero = atresias of SI
• Infants are prone to midgut volvulus and present s/s of IO
u/s ; normal doesn’t exclude
1. 3rd part of the duodenum is not in the normal retromesentric
2. Dilated duodenum caused by obstruction by ladds bands
3. Abnormal position of SMV either anterior or to the left
4. Whirlpool sign of volvulus
• caused by a bowel wrap around SMA, creating a pattern like
41. Barium study
• describes the spiral appearance of the distal duodenum and proximal
jejunum in the setting of midgut volvulus
• DJ flexure to the right of midline, inferiorly
• proximal dilatation of the duodenum
• DJ flexure doesn’t cross the spine
42. 6/25/2018 42
AP and Lateral barium study, shows DJF to the right of midline and
inferiorly and anteriorly
44. 3. Errors of retraction
• It is considered a remnant of the omphalomesenteric-vitelline duct,
which connects the yolk sac to the midgut through the umbilical cord.
• This duct is typically obliterated by the 5-8th week of gestation.
Failure of closure results in:
• diverticulum (~90% of cases)
• omphalomesenteric fistula
• fibrous band
46. 3.1 Ileal Diverticulum (Meckel’s Diverticulum)
• It is named after Johann Friedrich Meckel, who described its anatomy
and embryology in 1809
• A remnant of the proximal part of the yolk stalk that fails to degenerate
results in a fingerlike blind pouch that projects from the ileum.
• Occurs in about 1/50 people
• most common structural congenital anomaly of GIT
• Is a true diverticulum
• Arises from the antimesenteric border of the SI
• it is usually asymptomic and only occasionally leads to abdominal pain
and/or rectal bleeding
• lined with heterotopic mucosa in up to 60% of cases:
• gastric mucosa ~62%
• pancreatic ~6%
• gastric and pancreatic ~5%
• jejunal ~2%
• Brunner glands ~2%
• gastric and duodenal ~2%
• gastrointestinal haemorrhage :
• most common complication (30%).
• Large mostly self-limiting bright red rectal bleed.
• small-bowel obstruction:
• luminal obstruction from diverticulitis or foreign body impacted or
• intussusception: particularly if the diverticulum inverts
• Littre hernia: inclusion of the diverticulum into a hernia
• inflammation: Meckel diverticulitis
51. Radiographic features
• Detected incidentally or after complication.
• limited value in the diagnosis of an uncomplicated Meckel d.
• show a blind-ending peristaltic loop connected to the small bowel.
• limited value in uncomplicated cases, seems normal bowel loop.
• Show a fluid- or air-filled blind-ending pouch that arises from the
antimesenteric side of the distal ileum.
• diverticulum may invert and appear as an intraluminal polypoid
52. Angiography or CT angiography
• If bleeding
• barium filling a blind-ending tube arise from the ileum.
• Scintigraphy with 99mTc-Na-pertechnetate has a limited sensitivity
(~60%). It, however, aids in the diagnosis of diverticula with ectopic
• Pertechnetate is taken up by mucin-secreting cells of the gastric mucosa
and ectopic gastric tissue. Higher sensitivity in children (~85-90%).
53. 6/25/2018 53
This small bowel follow-through image shows barium filling a blind-ending
tubular structure (arrow) that is arising from the ileum.
54. Stenosis and Atresia of the SI
• Partial occlusion(stenosis) and complete occlusion (atresia) ;
• 1/3rd cases of IO
• Most often in the duodenum (25%) and ileum (50%).
Vascular injury most accepted theory of development; multiple possible
– Kinking of mesenteric artery during malrotation/ malfixation
– Fetal hypotension(distress)
○ Frequently associated with other GI anomalies
56. Surgical classification system of jejunoileal atresia:
Type I: Membranous atresia
○ Web or diaphragm occluding bowel segment
○ No mesenteric defect
○ Normal bowel length
• Type II: Blind ends separated by fibrous cord
○ No mesenteric defect
○ Normal bowel length
• Type IIIa: Blind ends with complete separation
○ V-shaped mesenteric defect
○ Short bowel
• Type IIIb: Affects long contiguous segment of jejunum and ileum (rare
○ Remaining segments have spiraled apple-peel appearance
○ Large mesenteric defect
• Type IV: Multiple small bowel atresias
57. Diagnosis ;
• May better delineate site of obstruction
• Obstructed fluid-filled loops
○ Low-signal T1WI, high-signal T2WI
○ May allow diagnosis of multiple atresia
○ Look for high-signal meconium in normal colon on T1W
59. Ultrasound for atresia;
○ Echogenic bowel in 2nd trimester may be 1st sign
○ Triple bubble for proximal jejunal atresia
○ Sausage-shaped and dilated, fluid-filled bowel loops
○ Hyperperistalsis of obstructed segments often seen in real time
60. Jejunal vs. ileal atresia
– shows a short segment of dilated bowel
– Greater bowel dilatation
―More likely to have enlarged stomach
– Less likely to perforate
– Higher association with FGR and polyhydraminos
– multiple loops of dilated bowel
– Less distensible, with earlier perforation
– Usually not associated with polyhydramnios
Absent anal target sign(Hyperechoic mucosa with hypoechoic ring)
• Can appear prominent in 3rd trimester, normal caliber 18 mm
• Double bubble and no bowel dilatation beyond duodenum
○ Dilated bowel segment shows no peristalsis
○ Heterogeneous lumen contents from hemorrhage/necrosis
• May be indistinguishable early
62. Jejunal atresia.
A: Transverse view through the fetal abdomen reveals a dilated segment of bowel
B: There is moderate-to-severe polyhydramnios
64. In this fetus with polyhydramnios at 31 weeks, dilated bowel can be traced from the
stomach to the duodenum, terminating in a blind-ending loop of proximal jejunum
Postnatal radiograph after air injection into the NG tube shows the proximal jejunal
blind-ending loop, with a gasless distal abdomen.
Proximal jejunal atresia was confirmed surgically
Proximal jejunal atresia
65. 4. Errors of fixation
Abnormalities of the mesenteries;
• At first all parts of the SI and LI have a mesentery and suspended from
the posterior abdominal wall.
• After the completion of rotation of the gut, some fixed others not
The original mesentery persists as;
• The mesentery of small intestine,
• The transverse mesocolon,
• The pelvic mesocolon.
66. Examples of errors of fixations;
• 4.1 Volvulus; where parts of intestine, that are normally retroperitoneal,
may have mesentery.
• 4.2 Adhesion; where parts of intestine, which normally, have a
mesentery, may be fixed by abnormal peritoneal attachment.
• 4.3 Sub-hepatic cecum
• 4.4 Mobile cecum
67. Subhepatic cecum and appendix
Due to failure of the cecum to elongate and descend into the RLAQ or
If the cecum adheres to the inferior surface of the liver when it returns to
it will be drawn superiorly as the liver diminishes in size
As a result, they remain in their fetal positions.
More common in males and occur in 6% of fetuses.
it may create a problem in the diagnosis of appendicitis and during
69. Mobile cecum;
• Results from incomplete fixation of the ascending colon.
• In 10% of people, the cecum has an abnormal amount of freedom.
• In very unusual cases, it may herniate into the right inguinal canal.
• Clinically significant because of the possible variations in the position of
the appendix and because risk of cecal volvulus
70. Take off message;
• When gastroschisis or omphalocele is detected in the first trimester, the
next step is ruling out additional anomalies.
• Follow up scan is very important
• Save life through safe abdominal scan
• Langman medical embryology 12th edition
• The Developing Human Clinically Oriented Embryology 8th Edition
• Before We Are Born Essential Of Embryology And Birth Defect 9th Edition
• Larsen’s Human Embryology 5th Edition
• Atlas of ultrasound in obstetric and gynecology 2nd edition
• Callen’s ultrasonography in obstetrics and gynecology 6th edition
• Internet source
Hinweis der Redaktion
b/c formation of abdominal compartment occurs during gastulation, a critical failure of growth at this time is associated with other defects
Result from impaired growth of mesodermal(muscle) and endodermal(skin) components of abdominal wall. The midgut fails to retract into the abdominal cavity.
General pathogenesis includes teratogenic effects by early pregnancy use of antithyroid drugs
commoner with smaller omphalocoele containing bowel only
Small abdominal cavity and large omphalocele is associated with pulmonary and thoracic hypoplasia
Especially brain anomalies
an allantoic cyst is often present Appearance of eviscerated bowel is generally good because of protection from membrane
Stomach. As early as 8 weeks, the stomach can be visualized as a left-sided hypoechoic cavity in the upper abdomen.21,30
By 11 to 14 weeks the stomach is visible in 99% of fetuses
Bowel. After 12 weeks the entire bowel is intra-abdominal, with
visualization more successful between 13 and 14 weeks compared to 11 to 12 weeks
Use to identify omphalocele contents
– Hepatic vessels in sac confirm liver involvement
– Look for ductus venosus in 1st trimester, Membrane rupture is complication(rare)
If present have mortality rate around 80-100%. Complete reduction of large omphaloceles can cause harmful elevation of intraabdominal pressure
Absent of right omphalomesentric artery
Rupture of anterior abdominal wall, it can be associated with abnormalities of the brain (4.5%), heart (2.5%), limbs (2.2%),and kidneys(1.9%) and
Rupture of omphalocele and herniation of viscera in to the base of umblical cord before the sides of anterior abdominal wall have closed
In theory, gastroschisis should be able to be distinguished from the physiologic herniation and omphalocele in the first trimester by its location lateral to the umbilicus (typically rightsided) however, image resolution or fetal position and movement may limit the ability to adequately characterize any bowel herniation prior to 12 weeks and requires confirmation after 12 weeks.
Bowel wall is directly exposed to the amniotic fluid which is causing chemical peritonitis. As a result of this chemical irritation, bowel wall thickens and becomes echogenic and nodular Often multiple or long-segment atresias
In the second trimester, gastroschisis typically appears as an irregular mass of tissue anterior to the abdomen on one side of the umbilical cord insertion.
○ Evaluation of SMA not predictive of bowel health and fetal outcome
Gastroschisis is usually an isolated finding and is rarely associated with chromosomal anomalies.
The smaller the gastroschisis, the greater the risk of ischaemia to the herniated gut due to a more severe restriction of blood flow.
( fibrous band in the median line of the anterior abdominal wall between the rectus muscles)
The cecum and the most proximal region of the large intestine may or may not fuse to the dorsal body wall to become secondarily retroperitoneal.
This rotation brings the regions of the midgut and hindgut into their normal spatial relationships, with one important exception:
A contrast x-ray study can determine the presence of rotational abnormalities.
Normally the smv should be located to the right, the duodenumshould be located between mesentric artery and aorta in the retroperitoneal space,
(i.e. all layers of the gastrointestinal tract are present in its wall)
small-bowel obstruction: second most common presentation
gastrointestinal haemorrhage, may show the persistent omphalomesenteric artery in most cases although recognition of the artery may be difficult due to overlying vessels.
The loss of blood supply leads to necrosis of the intestine and development of a fibrous cord connecting the proximal and distal ends of normal intestine.
Also failed recanalization
Type IIIb atresia (“apple peel” atresia; is characterized by a bowel segment (distal to the atresia) that is shortened, coiled around a mesentery remnant, and lacking a blood supply from the SMA (blood supply to this bowel segment is via collateral circulation).
Type IV atresiais characterized by multiple atresia throughout the bowel having the appearance of a “string of sausages.”
Hyperperistalsis within dilated small bowel loops highly suggestive of obstruction
Bowel contents (succus entericus) commonly echogenic, Continued bowel dilation into 3rd trimester
--May not see before 26 weeks
-- Seen in < 50% of cases of jejunal obstruction
Dilated stomach May be seen before bowel dilatation
After the completion of rotation of the gut, the duodenum, the ascending colon, the descending colon and the rectum become retroperitoneal (by fusion of their mesenteries with the posterior abdominal wall).
may descend only to the lumbar region. Alternatively, it may descend into the pelvis
A subhepatic cecum and “high-riding”appendix may be seen in adults.