Prenatal Diagnosis of Gut Herniations Herniations by...
Transcript of Prenatal Diagnosis of Gut Herniations Herniations by...
Christine Westra, MS3Gillian 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 IIIGillian Lieberman, MDGillian Lieberman, MD
June, 2011
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Christine Westra, MS3Gillian Lieberman, MD
Uses of Ultrasound (US) in ObstetricsUses of Ultrasound (US) in Obstetricsestablish 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
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Christine Westra, MS3Gillian Lieberman, MD
Fetal US: Transverse PlanesFetal US: Transverse Planes
From Callen PW: Ultrasonography in Obstetrics and Gynecology, 4th ed. Philadelphia, Saunders, 2000
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Transverse plane through brain
Transverse plane through abdomen
PACS: BIDMC
PACS: BIDMC
Christine Westra, MS3Gillian Lieberman, MD
Fetal US: Sagittal PlanesFetal US: Sagittal Planes
From Callen PW: Ultrasonography in Obstetrics and Gynecology, 4th ed. Philadelphia, Saunders, 2000
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PACS: BIDMC
PACS: BIDMC
Christine Westra, MS3Gillian Lieberman, MD
Meet Our PatientMeet Our Patient39 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 abortionsNo significant PMH or other surgeriesNo significant PMH or other surgeries
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About First Trimester ScreeningAbout First Trimester ScreeningPerformed 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 ageSerum 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
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Our PatientOur Patient’’s Fetal US: s Fetal US: NuchalNuchal Translucency Translucency
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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, MS3Gillian Lieberman, MD
Our PatientOur Patient’’s Fetal US:s Fetal US: Gut Gut HerniationHerniation
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12 weeks LMP
Transverse plane through mid-abdomen shows a prominent gut herniation at the umbilical cord insertion site
PACS: BIDMC
Christine Westra, MS3Gillian 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.
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9 weeks
12 weeks
From: Rumack, Diagnostic Ultrasound, 3rd Ed. 2005
Christine Westra, MS3Gillian 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 breechPrevious elective D&C abortionPrevious elective D&C abortionNo significant PMHNo significant PMH
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Companion Patient 1 Fetal US: Companion Patient 1 Fetal US: Gut Herniation Gut Herniation
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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
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Doppler US confirms that the umbilical cord contains only patent vessels
Christine Westra, MS3Gillian Lieberman, MD
Physiologic Gut Herniation Physiologic Gut Herniation
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• Gut herniation is physiologic up to 12 weeks LMP• >12 weeks LMP, gut herniation suggests an anterior abdominal wall defect
Christine Westra, MS3Gillian 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 weeksParameters: Parameters:
alphaalpha--fetoprotein (AFP)fetoprotein (AFP)unconjugated unconjugated estriolestriol (uE3)(uE3)ββhCGhCGDimericDimeric inhibininhibin A (DIA)A (DIA)
Results:Results:Risk of Trisomy 21: Risk of Trisomy 21: 1:5Risk 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
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Our PatientOur Patient’’s F/U Fetal US: s F/U Fetal US: Anterior Abdominal Wall Defect Anterior Abdominal Wall Defect
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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, MS3Gillian Lieberman, MD
About Anterior Abdominal Wall DefectsAbout Anterior Abdominal Wall DefectsDetection 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
GastroschisisGastroschisisOccurs in 1:10,000 live birthsOccurs in 1:10,000 live birthsLoops of bowel protrude through all layers of abdominal wallLoops of bowel protrude through all layers of abdominal wall
PentologyPentology of Cantrellof CantrellOmphaloceleOmphalocele, 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 complexA 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
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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, MS3Gillian Lieberman, MD
Two chamber view of the heart shows a ventricular septal defect
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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, MS3Gillian 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 abnormalities67% of fetuses detected by amniocentesis die before term67% of fetuses detected by amniocentesis die before term90% 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.
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About About OmphaloceleOmphaloceleLocated 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
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Small-bowel only
Small-bowel and liver
From: Rumack, Diagnostic Ultrasound, 3rd Ed. 2005
Christine Westra, MS3Gillian Lieberman, MD
Example of Giant Example of Giant OmphaloceleOmphalocele on Fetal USon Fetal US
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Transverse plane shows a large gut herniation containing liver (L) with the portal vein (PV), small bowel (SB) and the stomach (S)
Christine Westra, MS3Gillian Lieberman, MD
Companion Patient 2Companion Patient 219 19 yoyo F, G2P1 presented for First Trimester F, G2P1 presented for First Trimester ScreeningScreening
No significant PMHNo significant PMHPrior delivery at 39 weeks, no complicationsPrior delivery at 39 weeks, no complicationsSmokes Smokes ½½ ppdppd; boyfriend smokes 1 ; boyfriend smokes 1 ppdppd
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Companion Patient 2 Fetal US:Companion Patient 2 Fetal US: Gut HerniationGut Herniation
Rib
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Sagittal plane shows a gut herniation
Christine Westra, MS3Gillian Lieberman, MD
Rib
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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, MS3Gillian Lieberman, MD
OmphaloceleOmphalocele vs. vs. GastroschisisGastroschisisOmphaloceleOmphalocele
Midline cord Midline cord insertion siteinsertion siteVariable size (2Variable size (2--10cm)10cm)Liver can be involvedLiver can be involvedMembrane presentMembrane presentOften ascites and bowel Often ascites and bowel wall thickeningwall thickeningOften cardiac, GI and GU Often cardiac, GI and GU defectsdefectsOften chromosomal Often chromosomal abnormalitiesabnormalities
GastroschisisGastroschisisParaumbilicalParaumbilicallocationlocationSmall (2Small (2--4 cm)4 cm)Bowel onlyBowel onlyNo membraneNo membraneBowel wall thickened but Bowel wall thickened but usually no ascitesusually no ascitesRarely associated with Rarely associated with other structural or other structural or chromosomal chromosomal abnormalitiesabnormalitiesAssociated with IUGR and Associated with IUGR and smokingsmoking 2525
Christine Westra, MS3Gillian Lieberman, MD
OmphaloceleOmphalocele on 3D USon 3D US
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OmphaloceleOmphalocele on MR Imagingon MR Imaging
Sagittal T2-weighted MRI of a fetus with omphalocele containing liver, some bowel and part of the stomach
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SummaryIn 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 defectsHow to distinguish omphalocele from gastroschisis on fetal US
You were offered fetal US examples of:Omphalocele
Small-bowel onlyGiant with liver involvement3D US and MRI views for comparison
GastroschisisPhysiologic gut herniationVentricular septal defectAbnormal nuchal translucency
Christine Westra, MS3Gillian Lieberman, MD
Take-home PearlsFetal 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, MS3Gillian Lieberman, MD
ReferencesReferencesRumackRumack, 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.
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AcknowledgementsAcknowledgementsI 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
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