suatu materi tentang kelainan anatomi sistem pencernan yg berhubungan dengan obstertri dan ginekologi. termasuk lambung, usus halus, usus besar, rektum dan anus. Dapat berguna untuk penapisan sebelum bayi lahir. Diharapkan dengan materi ini dapat meningkatkan pengetahuan mahasiswa dalam ilmu yang berkaitan dengan Gastrointestinal terpadu. digunakan pada masyarakat umum dan sekitarnya.

1. Anomalies of the
Gastrointestinal Tract
and Anterior
Abdominal Wall
TJOKORDA GDE AGUNG SUWARDEWA
FETOMATERNAL DIVITION
DEPARTMENT OBSTETRIC-GYNECOLOGY
MEDICAL FACULTY OF UDAYANA UNIVERSITY
SANGLAH HOSPITAL
DENPASAR

2. Topic
 Atresias
 Meconium-Related Diseases
 Situs Inversus
 Ventral Abdominal Wall Defect

3. Atresias
Esophageal Atresia Intestinal Atresia
Duodenal Atresia
Jejunum & Ileal Atresia
Colonic Atresia
Anal Atresia

4. Esophageal Atresia
 Esophageal atresia is anomalous closure of the
esophagus that may or may not be associated
with a tracheoesophageal fistula.
 Incidence: range between 1 in 1500 and 1 in 5000
live birth.
 A low tracheoesophageal
fistula is present in
approximately 90% of all
cases

5. Esophageal Atresia
 Prenatal Diagnosis (USG) is
difficult
 Polyhydramnions & fetal
stomach ( ? )
 Fluid-filled gastric bubble
does not excluded the
anomaly
 Remember of
tracheoesophageal fistula
Ultrasound features

6. Esophageal Atresia
 Small stomach and
polyhydramnion still
considered an important
suggestive sign of esophageal
atresia
 But since the stomach is not
always visualized even in
healthy fetus
 Serial scans should be
obtained.
Ultrasound features

7. Esophageal Atresia
 Upper neck pouch
sign : Dilated,
fluid-filled proximal
esophageal pouch
 Detection rate
12,2% - 42%
Ultrasound features
vomiting

8. Esophageal Atresia
 Polyhydramnions : is not sensitive marker
 VACTERL syndrome : Vertebral defect-Anal
atresia-Cardiac anomalies-Tracheoesophageal
fistula with Esophageal atresia-Renal dysplasia-
Limb anomalies.
 Chromosome abnormality : Trisomi 18
Associated Anomalies

9. Esophageal Atresia
A chromosome abnormality should be
excluded by amniocentesis or
cordocentesis, depending on
gestational age.
Invasive testing

10. Esophageal Atresia
 Influenced by several factors
 Associated anomalies
 Birth weight
 Survival rate 17% - 97%
Prognosis

11. Esophageal Atresia
 Decompression amniocentesis
 Spontaneous delivery
Prenatal Management

12. Duodenal Atresia
 Congenital closure of the duodenum
 Incidence : 1 in 10,000 live births
 The condition results from a failure of
recanalization of duodenum during early
embryonic development.

13. Duodenal Atresia
 Three type :
Type I : membranous atresia
Type II : blindly terminating bowel
loops interconnected by a
fibrous band
Type III : complete separation of the
bowel loops
Pathoanatomic feature

14. Duodenal Atresia
Ultrasound features
 Double bubble sign
 Dilated stomach (s) &
distended proximal
duodenum (d)
 Suspected only if dual
cavities are noted on two
planes (longitudinal &
transverse) continue to
appear on repeat scans
 Polyhydramnion in 53 % of
cases

15. Duodenal Atresia
 Intraabdominal cyst:
 Hepatic cyst
 Choledochal cyst
 Renal cyst
 Ovarian cyst
 Peritoneal cyst
Differential diagnosis
DUODENAL ATRESIA
BIL.HYDRONEPHROSIS
OVARIAN CYST

16. Duodenal Atresia
 More than half : cardiac, renal,
musculoskeletal, or CNS anomalies.
 Vertebral anomalies in 37% of cases.
 Trisomi 21 in 30% - 40% of all cases.
Associated anomalies

17. Duodenal Atresia
Whenever the double bubble sign is found,
amniocentesis is indicated for chromosome
analysis.
Invasive testing

18. Duodenal Atresia
 Survival rate of 91% - 95%
 Overall mortality is more closely to
associated anomalies than to birth weight
 If combine with esophageal atresia, the
mortality rate is high, exceeding 60%.
Prognosis

19. Duodenal Atresia
 Since polyhydramnions is often present,
incidence premature delivery is a 43%.
 To prevent this, serial amniocentesis should
be performed.
 The goal is vaginal delivery at a perinatal
center.
Prenatal management

20. Jejunal and Ileal Atresia
 Complete distal closure of the small-bowel
lumen at the level of the jejunum or ileum.
 Incidence : 1 in 6000.
 Most cases is jejunal atresia
 Embryologi & pathogenesis:
 Incomplete revacuolization
 Postembolic or postthrombotic ischemic,
volvulus, intussusception.

21. Jejunal and Ileal Atresia
 Usually appear as
multiple cystic areas
within the fetal
abdomen
 Changing their shape
during prolonged
observation as a result
of peristaltic
 Most cases are not
diagnosed until the third
trimester.
Ultrasound feature
Jejunal atresia

22. Jejunal and Ileal Atresia
Ultrasound feature
Ileal atyresia
 Usually appear as
multiple cystic areas
within the fetal
abdomen
 Changing their shape
during prolonged
observation as a result
of peristaltic
 Most cases are not
diagnosed until the third
trimester.

23. Jejunal and Ileal Atresia
 A mesenteric cyst
 Renal cyst or hydronephrosis
 An ovarian cyst
 A cystic sacrococcygeal teratoma
with retroperitoneal extention
 A non obstructive dilatation of the
small bowel
Defferential diagnosis

24. Jejunal and Ileal Atresia
 Depend on : birth weight, associated
anomalies, and complication that arise
 If rupture meconium peritonitis
 Overall mortality rate of 80%
Prognosis

25. Jejunal and Ileal Atresia
 Because surgically correctable condition
 Intrauterine diagnosis must be provide
 Bowel perforation and meconium peritonitis
early delivery
Prenatal management

26. Colonic Atresia
 Colonic atresia is a congenital
closure of the large bowel
 Incidence : 1 in 10,000 live birth to 1
in 20,000 live birth
 Etiology : the defect is believed to
result from deficient blood flow and
inflamatory changes.

27. Hirschprung disease
 Congenital megacolon
 Deficient migration of parasympathetic
neuroblasts into the bowel during the 9th
to 12th weeks of embryo development.

28. Hirschprung disease
 Dilatation of large bowel is noted within
fetal abdomen
Ultrasound feature
35 WEEKS
25MM

29. Hirschprung disease
 The dilated colon loop cannot be further
differentiated with ultrasound
 Occasionally found in healthy fetus
especially during the third trimester
Differential diagnosis

30. Hirschprung disease
 Isolated colonic atresia has a good
prognosis.
 Curable by resection of atretic bowel
segment
Prognosis

31. Hirschprung disease
 Serial scans during pregnancy
 Detect any complication
 Delivery at perinatal center
 Pediatric surgeon.
Prenatal management

32. Anal Atresia
 Congenital closure of the anus
 Incidence : 1 in 2000 to 1 in 3000 birth
 The condition result from a failure of
perforation of the embryonic anal
membrane

33. Anal Atresia
 Pathoanatomic are variable
 Simple membrane closure of the anus
 Complex cloacal malformation
 Fistula : bladder, urethra, vagina
Pathoanatomic feature

34. Anal Atresia
 Enlarged, fluid-filled loop
of large bowel
 Others have normal-
appearing colon loops
 Another suggestive sign :
calcified, hyperechoic,
intraluminal meconium
Ultrasound feature
DILATED RECTUM

35. Anal Atresia
 Ovarian cyst
 Mesenteric cyst
 Ureteral dilatation
Differential diagnosis

36. Anal Atresia
 Significanly lower serum AFP levels in
fetus with anal atresia than in fetus with a
higher-level obstruction.
 Fetal karyotyping is optional.
Testing

37. Anal Atresia
 Serial scans should be performed
 Infant should be delivered in the
perinatal center
Prenatal management

38. Meconium-Related Diseases
 Meconium ileus
 Meconium peritonitis

39. Meconium ileus
 Meconium ileus refers to an obstruction of
the distal small bowel by inspissated
meconium
 Incidence : 1 in 1500 to 1 in 2000 live birth

40. Meconium ileus
 Most frequent cause is cyctic fibrosis
(mucoviscidosis)
 Autosomal-recessive disorder of
exocrine system,
 Overproduction viscous mucus
Etiology & Pathogenesis

41. Meconium ileus
 Dilated ileum with dense
internal echoes
 During third trimester,
meconium illeus
increases bowel
echogenicity
 But no detectable bowel
dilatation
Ultrasound feature
DD

42. Meconium ileus
 Half of fetuses with meconium ileus develop other
gastrointestinal complication : volvulus, bowel
perforation, meconium peritonitis
 Mortality rate in newborns is high
 Cause of death almost always a severe pulmonary
complication
Prognosis

43. Meconium ileus
 If bowel ruptured is not occurred, no
reason to induced labor
 Chromosome analysis.
Prenatal management

44. Meconium Peritonitis
 A steril imflamation of peritoneum following
bowel perforation with the extravasation of
meconium.
 Incidence : 1 in 35,000 live birth

45. Meconium Peritonitis
Etiology & pathogenesis
Local vascular insufficiency
Bowel wall
Small bowel obstruction,
Volvulus, intussusception,
Mesenteric arterial
thrombosis
Necrosis & perforation
Meconium extravasate
Severe chemical irritation &
Peritoneum inflammation

46. Meconium Peritonitis
 Depend :
 underlying disorder,
 gestational age,
 size of defect,
 time elapsed since
the bowel rupture
Ultrasound features
 Decreases luminal diameter
 Ascites
 Intraabdominal densities &
calcifications (acoustic
shadows)
 Thicken bowel loop

47. Meconium Peritonitis
 Ascites in nonimmune fetal hydrops
 Urinary ascites
 Meconium ileus
 Viral infection
Differential diagnosis
Percutaneous aspiration of the ascites yields a brownish-yellow fluid

48. Meconium Peritonitis
 Defends :
 Underlying disorder
 Gestational age
 Duration of the meconium peritonitis
Prognosis
 Mortality rate, 80% in 1966.
Today it range between 40%-62%

49. Meconium Peritonitis
 Mature fetus induced labor
 Immature lung maturation cs
Prenatal management

50. Situs Inversus
 Partial or complete mirror-image
transportation of the viscera.
 Typical feature of Kartagener syndrome,
 Marked by triad :
 Bronchiectasis
 Situs inversus
 sinusitis

51. Situs Inversus
 Result from an absence of ciliary motion on
the embryonic epithelial cells.
 These cell are responsible for producing the
normal rotation and bilateral symmetry of
the internal organs
Etiology & pathogenesis

52. Situs Inversus
 Stomach on the right side
 The heart may be found on
the contralateral side
Ultrasound features
19 weeks,2 days

53. Ventral Abdominal Defect
1. Omphalocele
2. Umbilical hernia
3. Gastroschisis
4. Eventration
Four main types :

54. Omphalocele & Umbilical Hernia
 Ventral abdominal wall defect with a midgut
hernial sac containing abdominal viscera
 Incidence : 1 in 2280 to 1 in 10,000 live births

55. Omphalocele & Umbilical Hernia
 Omphalocele :
 Occurs during the third weeks embryonic
development.
 Primary deficient closure of the ventral
abdominal wall
 Marked by a failure of formation of the
umbilical ring
 The hernia sac contains liver and bowel
Embryology

56. Omphalocele & Umbilical Hernia
 Umbilical hernia :
 Resembles omphalocele, but
occurs somewhat later in
embryonic development, after
umbilical ring has already
formed.
 Incomplete reduction of the
bowel from the physiologic
umbilical hernia
 Smaller than omphalocele
 Contain only bowel
Embryology

57. Omphalocele & Umbilical Hernia
 Hernial sac located in front of
abdominal wall and connected to
the abdominal by a base of
variable width.
 Sac contain : bowel only or
maybe with stomach and liver
Ultrasound features

58. Omphalocele & Umbilical Hernia
Ultrasound features

59. Omphalocele & Umbilical Hernia
 The sac may closely envelop the
visceral content or it may contain
copious fluid that separate the sac
from the extrude viscera
 In some cases the cystic sac may
be accompanied by demonstrable
umbilical cyst.
 Abdominal diameter or AC smaller
Ultrasound features

60. Omphalocele & Umbilical Hernia
 Diagnosis omphalocele
between 10-14 weeks of
gestation?
 The physiologic umbilical
hernia is still present up to
12 weeks gestation
(misinterpretation?)
 Serial scans
Physiologic umbilical hernia

61. Omphalocele & Umbilical Hernia
 Prognosis of omphalocele depend on:
 Size of defect
 Associated anomalies
 The larger defect more challenging it can be
repair after birth
 Pulmonary problem are not uncommon
 Mortality rate 34%
Prognosis

62. Omphalocele & Umbilical Hernia
 Avoids the risk of hernial sac rupture
 Large omphalocele caesarean section
 Small omphalocele considered vaginal delivery
Prenatal management

63. Gastroschisis
 Gastroschisis is an open, sporadically
occurring abdominal wall defect with
extruded loops of bowel
 Incidence : 1 in 30,000 birth

64. Gastroschisis
 Extruded viscera
are not covered
by a hernial sac
 The defect is
located to the
right of the
umbilical cord
insertion.
Pathoanatomic features

65. Gastroschisis
 There is no hernial sac
 Bowel loop extruded from
the paraumbilical defect on
the right side
 Bowel loops float freely in
the amniotic fluid
 Can be diagnosed by the end
of first trimester
 Diameter or AC to small
Ultrasound features

66. Gastroschisis
17 weeks 35 weeks
35 weeks
35 weeks

67. Gastroschisis
Diferential diagnosis
 Rupture omphalocele  Gastroschisis

68. Gastroschisis
Noninvasive/invasive testing
 Maternal serum AFP level are markedly
elevated (99%) in pregnancy associated
with gastroschisis.
 Low association with chromosome
abnormalities.

69. Gastroschisis
Prognosis
 The mortality rate, 10%-12,7%
 The mortality rate was 50%, if the liver partially or
completely outside the body
 Prenatal diagnosis and delivery at a perinatal
center provide the most effective basis for
successful surgical treatment of gastroschisis.

70. Gastroschisis
Prenatal management
 Mode of delivery is controversial.
 Cesarean section did not improve the
perinatal outcome
 Recommended time of delivery from a
surgical standpoint, is 37 weeks.

71. O . . O . . O
Giiitu . . toh