Christine Westra, MS3
Gillian Lieberman, MD
Prenatal Diagnosis of Gut Prenatal Diagnosis of Gut
HerniationsHerniations by Ultrasoundby Ultrasound
Christine Westra, Harvard Medical School, Year IIIChristine Westra, Harvard Medical School, Year III
Gillian Lieberman, MDGillian Lieberman, MD
June, 2011
11
Christine Westra, MS3
Gillian Lieberman, MD
Uses of Ultrasound (US) in ObstetricsUses of Ultrasound (US) in Obstetrics
establish the presence of a living embryo/fetus. establish the presence of a living embryo/fetus.
estimate the age of the pregnancy. estimate the age of the pregnancy.
diagnose congenital abnormalities of the fetus. .
evaluate the position of the fetus. evaluate the position of the fetus.
evaluate the position of the placenta. evaluate the position of the placenta.
determine if there are multiple pregnancies. determine if there are multiple pregnancies.
determine the amount of amniotic fluid around the determine the amount of amniotic fluid around the
baby. baby.
check for opening or shortening of the cervix or check for opening or shortening of the cervix or
mouth of the womb. mouth of the womb.
assess fetal growth. assess fetal growth.
assess fetal wellassess fetal well--being. being.
http://www.radiologyinfo.org
22
Christine Westra, MS3
Gillian Lieberman, MD
Fetal US: Transverse PlanesFetal US: Transverse Planes
From Callen PW: Ultrasonography in Obstetrics and
Gynecology, 4th ed. Philadelphia, Saunders, 2000
33
Transverse
plane through
brain
Transverse
plane through
abdomen
PACS: BIDMC
PACS: BIDMC
Christine Westra, MS3
Gillian Lieberman, MD
Fetal US: Sagittal PlanesFetal US: Sagittal Planes
From Callen PW: Ultrasonography in Obstetrics and
Gynecology, 4th ed. Philadelphia, Saunders, 2000
44
PACS: BIDMC
PACS: BIDMC
Christine Westra, MS3
Gillian Lieberman, MD
Meet Our PatientMeet Our Patient
39 39 yoyo F, G4P0, wanted First Trimester F, G4P0, wanted First Trimester
ScreeningScreening
Previous spontaneous abortion and 2 D&C Previous spontaneous abortion and 2 D&C
elective abortionselective abortions
No significant PMH or other surgeriesNo significant PMH or other surgeries
55
Christine Westra, MS3
Gillian Lieberman, MD
About First Trimester ScreeningAbout First Trimester Screening
Performed between 11 and 13 weeks LMPPerformed between 11 and 13 weeks LMP
Evaluates risk of Evaluates risk of TrisomyTrisomy 21, 18 and 1321, 18 and 13
85% sensitive, 5% false positive rate85% sensitive, 5% false positive rate
Parameters:Parameters:
Maternal ageMaternal age
Serum levels of Serum levels of hCGhCG and pregnancyand pregnancy--associated plasma associated plasma
protein A (PAPPprotein A (PAPP--A)A)
US measurement of US measurement of nuchalnuchal translucencytranslucency
66
Christine Westra, MS3
Gillian Lieberman, MD
Our PatientOur Patient’’s Fetal US: s Fetal US:
NuchalNuchal Translucency Translucency
77
Nuchal Translucency = 3.0 mm
(normal <3.0 mm)
First Trimester Screening
Results:
•Risk of Trisomy 21= 1:9
•Risk of Trisomy 13
or 18= 1:73
12 weeks LMP
PACS: BIDMC
Christine Westra, MS3
Gillian Lieberman, MD
Our PatientOur Patient’’s Fetal US:s Fetal US:
Gut Gut HerniationHerniation
88
12 weeks LMP
Transverse plane
through mid-abdomen
shows a prominent gut
herniation at the
umbilical cord insertion
site
PACS: BIDMC
Christine Westra, MS3
Gillian Lieberman, MD
Overview of GI EmbryologyOverview of GI Embryology
FIGURE 41-22 Normal development of the
anterior abdominal wall. A, Herniation into the base
of the proximal umbilical cord (9 weeks’ gestation). B, This
bowel undergoes a 90-degree rotation along the axis of
the superior mesenteric artery. C, At approximately 12
weeks’ gestation, the bowel returns to its normal position
in the abdominal cavity, undergoing an additional 180-
degree rotation along the axis of the superior mesenteric
artery.
99
9 weeks
12 weeks
From: Rumack, Diagnostic Ultrasound, 3rd Ed. 2005
Christine Westra, MS3
Gillian Lieberman, MD
Companion Patient 1Companion Patient 1
32 32 yoyo F, G3P1, presented for First Trimester F, G3P1, presented for First Trimester
ScreeningScreening
Unsure of dates, IUD removed 2 mo agoUnsure of dates, IUD removed 2 mo ago
~ 11.5 weeks~ 11.5 weeks
Previous Cesarean delivery at 39 weeks for breechPrevious Cesarean delivery at 39 weeks for breech
Previous elective D&C abortionPrevious elective D&C abortion
No significant PMHNo significant PMH
1010
Christine Westra, MS3
Gillian Lieberman, MD
Companion Patient 1 Fetal US: Companion Patient 1 Fetal US:
Gut Herniation Gut Herniation
1111
Christine Westra, MS3
Gillian Lieberman, MD
Companion Patient 1 F/U US:Companion Patient 1 F/U US:
Normal Cord insertionNormal Cord insertion
Transverse view shows normal
cord insertion without gut
herniation
1212
Doppler US confirms that the
umbilical cord contains only
patent vessels
Christine Westra, MS3
Gillian Lieberman, MD
Physiologic Gut Herniation Physiologic Gut Herniation
1313
• Gut herniation is physiologic up to 12 weeks LMP
• >12 weeks LMP, gut herniation suggests an anterior abdominal wall defect
Christine Westra, MS3
Gillian Lieberman, MD
Returning to Our PatientReturning to Our Patient
Chose to have Sequential Screening Test at 16 weeksChose to have Sequential Screening Test at 16 weeks
Parameters: Parameters:
alphaalpha--fetoprotein (AFP)fetoprotein (AFP)
unconjugated unconjugated estriolestriol (uE3)(uE3)
ββhCGhCG
DimericDimeric inhibininhibin A (DIA)A (DIA)
Results:Results:
Risk of Trisomy 21: Risk of Trisomy 21: 1:5
Risk of Trisomy 13 or 18: Risk of Trisomy 13 or 18: 1:61
Had a F/U ultrasound at 16 weeks to reassess gut Had a F/U ultrasound at 16 weeks to reassess gut
herniationherniation
1414
Christine Westra, MS3
Gillian Lieberman, MD
Our PatientOur Patient’’s F/U Fetal US: s F/U Fetal US:
Anterior Abdominal Wall Defect Anterior Abdominal Wall Defect
1515
Transverse plane
through mid-abdomen
still shows a prominent
gut herniation at the
umbilical cord insertion
site indicating an anterior
abdominal wall defect
Christine Westra, MS3
Gillian Lieberman, MD
About Anterior Abdominal Wall DefectsAbout Anterior Abdominal Wall Defects
Detection rate by US is 65Detection rate by US is 65--98% (largely reflects operator 98% (largely reflects operator
variability) variability)
Four major types:Four major types:
OmphaloceleOmphalocele
Most common (1:4000 live births)Most common (1:4000 live births)
HerniationHerniation of abdominal contents into base of umbilical cordof abdominal contents into base of umbilical cord
GastroschisisGastroschisis
Occurs in 1:10,000 live birthsOccurs in 1:10,000 live births
Loops of bowel protrude through all layers of abdominal wallLoops of bowel protrude through all layers of abdominal wall
PentologyPentology of Cantrellof Cantrell
OmphaloceleOmphalocele, a diaphragmatic defect, a pericardial defect, ectopic heart , a diaphragmatic defect, a pericardial defect, ectopic heart
and disruption of the sternum, craniofacial anomaliesand disruption of the sternum, craniofacial anomalies
LimbLimb--body wall complexbody wall complex
A neural tube defect, an anterior abdominal wall defect, and limA neural tube defect, an anterior abdominal wall defect, and limb b
anomalies, often severe scoliosisanomalies, often severe scoliosis
Cause elevated Cause elevated --fetoprotein (AFP) in amniotic fluid and fetoprotein (AFP) in amniotic fluid and
maternal serummaternal serum
1616
Christine Westra, MS3
Gillian Lieberman, MD
1717
Transverse plane
with doppler US
shows the gut
herniation is centrally
located within the
umbilical cord
insertion site
indicating it is an
omphalocele
Our PatientOur Patient’’s F/U Fetal US: s F/U Fetal US:
OmphaloceleOmphalocele
Christine Westra, MS3
Gillian Lieberman, MD
Two chamber view of the heart
shows a ventricular septal defect
1818
16 weeks LMP
Doppler US confirms that there
is communication between the R
and L ventricles
Our PatientOur Patient’’s F/U Fetal US: s F/U Fetal US:
Ventricular Ventricular SeptalSeptal Defect Defect
Christine Westra, MS3
Gillian Lieberman, MD
Our PatientOur Patient’’s Outcomes Outcome
Because of high risk results of First Trimester and Because of high risk results of First Trimester and
Sequential Screening exams, our patient chose to have Sequential Screening exams, our patient chose to have
amniocentesis performed at 18 weeks LMP. amniocentesis performed at 18 weeks LMP.
The amniocentesis proved the fetus had The amniocentesis proved the fetus had TrisomyTrisomy 18, 18,
Edwards syndrome.Edwards syndrome.
TrisomyTrisomy 18 is associated with abdominal wall, kidney, and cardiac 18 is associated with abdominal wall, kidney, and cardiac
defects and multiple structural abnormalitiesdefects and multiple structural abnormalities
67% of fetuses detected by amniocentesis die before term67% of fetuses detected by amniocentesis die before term
90% live90% live--born die by 1 year of age (median survival= 8 wks)born die by 1 year of age (median survival= 8 wks)
Our patient underwent elective abortion of the fetus at 18 Our patient underwent elective abortion of the fetus at 18
weeks LMP.weeks LMP.
1919
Christine Westra, MS3
Gillian Lieberman, MD
About About OmphaloceleOmphalocele
Located centrally within Located centrally within
umbilical cord umbilical cord
3030--40% are associated with 40% are associated with
chromosomal abnormalities (rare chromosomal abnormalities (rare
if liver is involved)if liver is involved)
75% associated with other 75% associated with other
structural defects, especially structural defects, especially
cardiac, other GI and GU cardiac, other GI and GU
55--10% are part of Beckwith10% are part of Beckwith--
WeidemannWeidemann syndrome: gigantism, syndrome: gigantism,
renal tumors, renal tumors, hemihypertrophyhemihypertrophy, ,
and and macroglossiamacroglossia
2020
Small-bowel only
Small-bowel
and liver
From: Rumack, Diagnostic
Ultrasound, 3rd Ed. 2005
Christine Westra, MS3
Gillian Lieberman, MD
Example of Giant Example of Giant OmphaloceleOmphalocele
on Fetal USon Fetal US
Rib
2121
Rib
Transverse plane
shows a large gut
herniation containing
liver (L) with the
portal vein (PV),
small bowel (SB) and
the stomach (S)
Christine Westra, MS3
Gillian Lieberman, MD
Companion Patient 2Companion Patient 2
19 19 yoyo F, G2P1 presented for First Trimester F, G2P1 presented for First Trimester
ScreeningScreening
No significant PMHNo significant PMH
Prior delivery at 39 weeks, no complicationsPrior delivery at 39 weeks, no complications
Smokes Smokes ½½ ppdppd; boyfriend smokes 1 ; boyfriend smokes 1 ppdppd
2222
Christine Westra, MS3
Gillian Lieberman, MD
Companion Patient 2 Fetal US:Companion Patient 2 Fetal US:
Gut HerniationGut Herniation
Rib
2323
Rib
Sagittal plane shows
a gut herniation
Christine Westra, MS3
Gillian Lieberman, MD
Rib
2424
Rib
Transverse plane with
doppler US shows the
herniation is lateral to
the umbilical cord
insertion
From: Rumack, Diagnostic
Ultrasound, 3rd Ed. 2005
Companion Patient 2 Fetal US:Companion Patient 2 Fetal US:
GastroschisisGastroschisis
Christine Westra, MS3
Gillian Lieberman, MD
OmphaloceleOmphalocele vs. vs. GastroschisisGastroschisis
OmphaloceleOmphalocele
Midline cord Midline cord
insertion siteinsertion site
Variable size (2Variable size (2--10cm)10cm)
Liver can be involvedLiver can be involved
Membrane presentMembrane present
Often ascites and bowel Often ascites and bowel
wall thickeningwall thickening
Often cardiac, GI and GU Often cardiac, GI and GU
defectsdefects
Often chromosomal Often chromosomal
abnormalitiesabnormalities
GastroschisisGastroschisis
ParaumbilicalParaumbilical
locationlocation
Small (2Small (2--4 cm)4 cm)
Bowel onlyBowel only
No membraneNo membrane
Bowel wall thickened but Bowel wall thickened but
usually no ascitesusually no ascites
Rarely associated with Rarely associated with
other structural or other structural or
chromosomal chromosomal
abnormalitiesabnormalities
Associated with IUGR and Associated with IUGR and
smokingsmoking 2525
Christine Westra, MS3
Gillian Lieberman, MD
OmphaloceleOmphalocele on 3D USon 3D US
2626
Christine Westra, MS3
Gillian Lieberman, MD
OmphaloceleOmphalocele on MR Imagingon MR Imaging
Sagittal T2-weighted
MRI of a fetus with
omphalocele containing
liver, some bowel and
part of the stomach
2727
Christine Westra, MS3
Gillian Lieberman, MD
Summary
In this presentation you learned:
The uses of US in obstetrics and common US planes for assessing
the fetus.
The appearance of gut herniations on US and how to differentiate
physiologic gut herniation from abdominal wall defects
How to distinguish omphalocele from gastroschisis on fetal US
You were offered fetal US examples of:
Omphalocele
Small-bowel only
Giant with liver involvement
3D US and MRI views for comparison
Gastroschisis
Physiologic gut herniation
Ventricular septal defect
Abnormal nuchal translucency
Christine Westra, MS3
Gillian Lieberman, MD
Take-home Pearls
Fetal gut herniation can be seen on US in transverse and
sagittal planes during first trimester fetal US
Gut herniation is physiologic up to 12 weeks LMP; if
present after 12 weeks, it suggests an anterior abdominal
wall defect
Omphalocele is seen on fetal US as a central umbilical
cord herniation
Gastroschisis is seen on fetal US as a lateral umbilical
cord herniation
Christine Westra, MS3
Gillian Lieberman, MD
ReferencesReferences
RumackRumack, Wilson, , Wilson, CharboneauCharboneau. Diagnostic Ultrasound, 3. Diagnostic Ultrasound, 3rdrd ed. St. Louis, MO: Mosbyed. St. Louis, MO: Mosby--
ElselvierElselvier; 2005.; 2005.
Anandakumar C, Nuruddin Badruddin M, Chua TM, Wong YC, Chia D. FAnandakumar C, Nuruddin Badruddin M, Chua TM, Wong YC, Chia D. Firstirst--trimester trimester
prenatal diagnosis of prenatal diagnosis of omphaloceleomphalocele using threeusing three--dimensional ultrasonography. dimensional ultrasonography. Ultrasound Ultrasound
ObstetObstet Gynecol. Gynecol. 2002; 20: 6352002; 20: 635––637.637.
Barseghyan K, Gumbs JL, Miller DA.Barseghyan K, Gumbs JL, Miller DA. Progression of a giant Progression of a giant omphaloceleomphalocele in utero: in utero:
ultrasound and fetal magnetic resonance imaging findings. ultrasound and fetal magnetic resonance imaging findings. Fetal Fetal DiagnDiagn TherTher. .
2010;28(4):2332010;28(4):233--5. 5.
HeydanusHeydanus R,R, RaatsRaats MA,MA, TibboelTibboel D,D, et al:et al: Prenatal diagnosis of fetal abdominal wall defects: Prenatal diagnosis of fetal abdominal wall defects:
A retrospective analysis of 44 cases.A retrospective analysis of 44 cases. PrenatPrenat DiagnDiagn.. 1996;1996; 16:41116:411--417. 417.
Middleton WD, Kurtz AB, Hertzberg BS. Ultrasound: The RequisitesMiddleton WD, Kurtz AB, Hertzberg BS. Ultrasound: The Requisites, 2, 2ndnd ed. St. Louis, MO: ed. St. Louis, MO:
MosbyMosby--ElselvierElselvier; 2004.; 2004.
Obstetric Ultrasound. http://Obstetric Ultrasound. http://www.radiologyinfo.orgwww.radiologyinfo.org;; Radiological Society of North America. Radiological Society of North America.
Updated March 15, 2010. Accessed June 14, 2011.Updated March 15, 2010. Accessed June 14, 2011.
van van ZalenZalen--SprockSprock RM, RM, VugtVugt JM, van JM, van GeijnGeijn HP FirstHP First--trimester trimester sonographysonography of physiological of physiological
midgutmidgut herniation and early diagnosis of herniation and early diagnosis of omphaloceleomphalocele. . PrenatPrenat DiagnDiagn. . 1997;17(6):511.1997;17(6):511.
3030
Christine Westra, MS3
Gillian Lieberman, MD
AcknowledgementsAcknowledgements
I would like to extend a special thank you to: I would like to extend a special thank you to:
Dr. Dr. JaskiranJaskiran GrewalGrewal, US Radiology Fellow, US Radiology Fellow
Dr. Colin Dr. Colin McArdleMcArdle, US Radiology Attending, US Radiology Attending
Dr. Gillian Lieberman, Radiology Clerkship DirectorDr. Gillian Lieberman, Radiology Clerkship Director
Emily Hanson, Medical Student Education Coordinator Emily Hanson, Medical Student Education Coordinator
My colleagues: My colleagues: GelarehGelareh, Amar, Steve, Tom, Amar, Steve, Tom
3131
Prenatal Diagnosis of Gut Herniations by Ultrasound
Uses of Ultrasound (US) in Obstetrics
Fetal US: Transverse Planes
Fetal US: Sagittal Planes
Meet Our Patient
About First Trimester Screening
Our Patient’s Fetal US: �Nuchal Translucency
Our Patient’s Fetal US:� Gut Herniation
Overview of GI Embryology
Companion Patient 1
Companion Patient 1 Fetal US: �Gut Herniation
Companion Patient 1 F/U US:�Normal Cord insertion
Physiologic Gut Herniation
Returning to Our Patient
Our Patient’s F/U Fetal US: �Anterior Abdominal Wall Defect
About Anterior Abdominal Wall Defects
Slide Number 17
Slide Number 18
Our Patient’s Outcome
About Omphalocele
Example of Giant Omphalocele �on Fetal US
Companion Patient 2
Companion Patient 2 Fetal US:�Gut Herniation
Slide Number 24
Omphalocele vs. Gastroschisis
Omphalocele on 3D US
Omphalocele on MR Imaging
Summary
Take-home Pearls
References
Acknowledgements
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