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

11


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

22


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


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


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

55


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

66


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


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


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


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

1010


Companion Patient 1 Fetal US: Companion Patient 1 Fetal US: Gut Herniation Gut Herniation

1111


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


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


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

1414


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


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

1616


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


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


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.

1919


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

2020

Small-bowel only

Small-bowel and liver



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)


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

2222


Companion Patient 2 Fetal US:Companion Patient 2 Fetal US: Gut HerniationGut Herniation

Rib

2323

Rib

Sagittal plane shows a gut herniation


Rib

2424

Rib

Transverse plane with doppler US shows the herniation is lateral to the umbilical cord insertion


Companion Patient 2 Fetal US:Companion Patient 2 Fetal US: GastroschisisGastroschisis


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


OmphaloceleOmphalocele on 3D USon 3D US

2626


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


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


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


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.

3030


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

3131

prenatal diagnosis of gut herniations herniations by...

Documents