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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