Gastroschisis Versus Omphalocele / Exomphalos

Author: Junise Swanson RN Jonathan Weeks, M.D.

Objectives: Upon the completion of this CME article, the reader will e a le to !. E"plain the importance of makin# a distinction etween a dia#nosis of #astroschisis $ersus omphalocele. %. &. Descri e the associated anomalies that can e seen with #astroschisis and omphalocele. Discuss the o$erall pro#nosis and mana#ement of #astroschisis and omphalocele. Introduction 'here are two main t(pes of $entral a dominal wall defects seen at the le$el of the um ilicus that are detecta le ( perinatal ultrasound. 'hese are #astroschisis and omphalocele ) e"omphalos. 'he identification of these two anomalies ( ultrasound alon# with ein# a le to differentiate etween them is essential for prenatal dia#nosis, o stetrical mana#ement, and assessin# pro#nosis. Definition and Incidence

*astroschisis is a malformation of the a dominal wall that presents as a protrusion of $iscera throu#h a paraum ilical defect. 'his condition has no known #enetic association. 'he defect usuall( occurs to the ri#ht of the um ilicus ut the um ilicus is intact. *astroschisis in$ol$es all the la(ers of the a dominal wall. +s a result, the small owel almost alwa(s e$iscerates throu#h the defect and floats freel( in the amniotic fluid. 'here is no mem ranous co$erin#. ,t is also unusual for the li$er, spleen, or ladder to herniate throu#h the defect. 'he incidence of #astroschisis worldwide is a out ! per !-,--li$e irths. .owe$er, isolated cases of #astroschisis can occur at a rate of a out / per !-,--- li$e irths in mothers under the a#e of %-. 0mphalocele 1E"omphalos2 is a midline defect where the a dominal contents herniate throu#h the ase of the um ilicus. 'he herniated a dominal contents usuall( include the owel and stomach, and often a portion of the li$er. 'hese contents are co$ered with a translucent, a$ascular mem rane, consistin# of peritoneum on the inside and amniotic mem rane on the outside, separated ( Wharton3s 4ell(. 'he incidence of omphalocele in li$e irths worldwide is a out % per !-,--- and increases with maternal a#e. Patho enesis *astroschisis is a defect resultin# from a $ascular compromise of either the ri#ht um ilical $ein or the omphalomesenteric arter(. Disappearance of the ri#ht um ilical $ein 1prior to %56&% da(s after conception2 ma( lead to ischemia and result in mesodermal and ectodermal dama#e. +nother possi ilit( is a $ascular accident in$ol$in# the omphalomesenteric arter( that leads to a disruption of the um ilical rin# and hence, herniation of the a dominal contents.

'he patho#enesis of 0mphalocele ) E"omphalos is completel( different. Durin# the de$elopment of the em r(o, four areas of tissue con$er#e to complete the closin# of the a dominal wall. 'hese are the caudal 1lower2, cephalic 1upper2, and two lateral 1side2 folds. ,f the caudal 1lower2 fold fails to fuse, it results in cloacal e"troph( of the ladder. ,f the cephalic 1upper2 fold fails to fuse the result is omphalocele with ectopia cordis 1the fetal heart outside the chest2 alon# with sternal and ) or diaphra#matic malformations 1often called 7entalo#( of Cantrell2. When the lateral 1side2 folds fail to fuse, this results in isolated omphalocele producin# the herniation of owel and usuall( li$er, stomach, and sometimes spleen dependin# on the si8e of the defect. 'his herniation is contained within a mem ranous sac into which the um ilical cord inserts. Associated Anomalies +ppro"imatel( 5-9 of #astroschisis cases are isolated occurrences, ut !-9 to &-9 are associated with other malformations. ,ntestinal tract complications are the most common and include malrotation, atresia, stenosis, chemical irritation and thickenin# 1due to direct e"posure with the amniotic fluid2, ischemia of owel sections 1due to kinkin#2, and owel o struction. 0ther defects or complications that ha$e een reported are con#enital heart defects, h(drocephalus, pol(h(dramnios, oli#oh(dramnios, #enitourinar( tract a normalities, and prune ell( s(ndrome.

:or omphalocele ) e"omphalos, appro"imatel( ;-9 to /-9 are associated with other serious anomalies. Chromosome a normalities are seen in a out ;-9 of the fetuses with omphalocele. 1'o riefl( re$iew, the normal #enetic makeup of an indi$idual should consist of %% pairs of chromosomes, which are num ered ! throu#h %%, with a pair of se" chromosomes, for a total of %& pairs or <= chromosomes.2 'he most common chromosome anomalies seen with omphalocele are trisom( !&, trisom( !5, and trisom( %!. 0ther chromosome a normalities include 'urner S(ndrome 1a female with the #enetic makeup of <; chromosomes ut onl( one > chromosome ? <; >02, @linefelter S(ndrome 1a male with more than one > chromosome ? most often </ >>A2, and triploid( 1which is an indi$idual with a complete set of %& e"tra chromosomes ? such as =B >>>2. 0ther sporadic disorders that ma( include omphalocele as a component are 7entalo#( of Cantrell 1as descri ed a o$e2 and Ceckwith6Wiedemann s(ndrome 1which is a disorder of macrosomia in con4unction with an enlar#ed li$er and kidne(s and a lar#e protu erant ton#ue ? macro#lossia2. +ssociated cardiac defects are also common 1such as $entricular septal defect and tetralo#( of :allot2 as are neural tu e defects, a two6$essel um ilical cord, diaphra#matic hernias, arterio$enous 1+D2 malformations, low irth wei#ht, and a hi#her incidence of preterm deli$er(. !ltrasound "indin s and Prenatal Dia nosis

:or #astroschisis, multiple echo#enic free6floatin# owel loops near the anterior a dominal wall can e $isuali8ed durin# an ultrasound e$aluation. + mem ranous co$erin# or sac will not e seen. 'here will also e an intact um ilical cord insertion site seen to the left of the defect. 7ol(h(dramnios or oli#oh(dramnios can also e present. 'hese findin#s can e identified on a routine ultrasoundE howe$er, a tar#eted scan should e done to e$aluate the fetal anatom( for other possi le anomalies. Earl( detection of additional anomalies mi#ht affect pro#nosis. :actors that can sometimes make it difficult to identif( #astroschisis are a low amount of amniotic fluid 1oli#oh(dramnios2, the si8e of the defect, the fetal si8e and #estational a#e, and the fetal position. Detection efore !% weeks #estation can e difficult due to the normal mi#ration of the fetal #astrointestinal tract. 'he em r(onic owel normall( protrudes into the ase of the um ilical cord durin# the first trimester of pre#nanc(. 'he owel later mi#rates ack into the a dominal ca$it(. 'his process occurs etween the 5th and !%th week of #estation. 'herefore, it is important not to make an incorrect dia#nosis of a fetal anomal( at this earl( #estational a#e for a findin# that is a normal anatomical process. 'he maternal serum alpha6fetoprotein 1MS+:72 is a screenin# #enetic lood test that can e performed durin# pre#nanc(. Dalues are recorded as a normall( low, normal, or a normall( hi#h. :or #astroschisis, the MS+:7 le$el is a normall( ele$ated in B59 of the cases. ,f an amniocentesis is performed, the amniotic fluid +:7 le$el is also ele$ated. +cet(lcholinesterase 1+C.E2 is another su stance that can e tested for in amniotic fluid. Under normal circumstances, +C.E should not e detected in the amniotic fluid. .owe$er, for #astroschisis, +C.E is detected in the amniotic fluid. ,f (ou com ine MS+:7 screenin# with a positi$e identification ( ultrasound, most cases of #astroschisis can e dia#nosed prenatall( 1fi#ures ! F %2.

:or omphalocele ) e"omphalos, a solid appearin#, round, echo#enic mass ad4acent to the anterior a dominal wall is seen on ultrasound. 'he herniation is in the midline within a sac or mem rane and the um ilical cord inserts into this mass. +mniotic fluid +:7 le$els are also usuall( si#nificantl( ele$ated 1similar to #astroschisis2. +s with #astroschisis, ( com inin# +:7 screenin# with a positi$e identification ( ultrasound, a dia#nosis of omphalocele can usuall( e made. With this dia#nosis, howe$er, a tar#eted scan for other a normalities is $er( important due to the hi#h rate of associated anomalies 1fi#ures & F <2. #ana ement and Pro nosis 7roper mana#ement of the infant dia#nosed with an a dominal wall defect is important in terms ofG !. %. &. <. Detectin# associated anomalies earl( Deli$erin# the child at a center where appropriate postnatal care can e performed 7re$entin# iatro#enic in4ur( to the herniated a dominal contents durin# deli$er(, and Determinin# the proper deli$er( time as to decrease owel dama#e in utero

With a dia#nosis of #astroschisis, the fetus should ha$e follow6up ultrasounds to watch for intrauterine #rowth restriction 1seen in ;-9 of cases2, oli#oh(dramnios or pol(h(dramnios, and for si#ns of owel o struction and dama#e. @ar(ot(pin# 1#enetic amniocentesis2 is not usuall( recommended ecause most cases of #astroschisis are not associated with chromosome a normalities. 10ne potential concern, howe$er, is the issue that an omphalocele that has ruptured throu#h its mem rane co$erin# could mimic a #astroschisis. 'herefore, some prenatal testin# centers ma( offer further #enetic testin#.2 Most studies ha$e concluded that cesarean section does not si#nificantl( enefit the fetus re#ardin# mor idit( and mortalit( postnatall(. ,f the defect is lar#e and contains a portion of the li$er, most o stetricians would consider cesarean section o$er $a#inal deli$er(. ,f at all possi le, the child should e deli$ered at a tertiar( care center. ,n the case of an isolated #astroschisis the o$erall pro#nosis is $er( #ood with a sur$i$al rate of #reater than B-9. ,n cases where a si#nificant atresia of the intestinal tract has occurred, the sur$i$al rate can drop to as low as <-9. Usuall( the #astroschisis will e closed within %< hours of deli$er(. Sta#ed closures ma( e necessar( dependin# on the si8e of the defect and associated anomalies.

:or omphalocele ) e"omphalos, serial ultrasound e$aluations are indicated to follow fetal #rowth. ,ntrauterine #rowth restriction is also common with this disorder, alon# with pol(h(dramnios and preterm la or. Rupture of the mem rane co$erin# is rare 1 ut can occur2E howe$er, owel atresias are uncommon. @ar(ot(pin# 1throu#h #enetic amniocentesis2 is usuall( recommended, especiall( in the presence of other anomalies ecause of the hi#h rate of chromosomal a normalities seen with omphalocele. +n omphalocele ( itself is not an indication for cesarean section. :or a lar#e omphalocele containin# li$er, the fear of in4ur( to the li$er with $a#inal deli$er( is a concern and therefore, cesarean section is often recommended. Still irths are common amon# fetuses with omphalocele, especiall( in the presence of other anomalies or chromosomal defects. Death durin# the neonatal period depends on the other anomalies that ma( e seen in addition to the omphalocele. Se$ere associated anomalies are responsi le for 5-9 to !--9 of the reported deaths. Sepsis and complications from sur#ical repairs are responsi le for less than !-9 of the deaths. +ppro"imatel(, ;-9 of fetuses dia#nosed with omphalocele will not sur$i$e 1a#ain, this is usuall( due to the other associated a normalities2. ,n the a sence of other anomalies, the outcome for a fetus with omphalocele is #ood. Sur#ical repairs can e comple" and sta#ed closures are usuall( dependent upon the si8e of the defect. 0mphaloceles are usuall( repaired within %< to <5 hours of irth. $ummar%

'hou#h somewhat similar in their presentation 1an a dominal wall defect with an ele$ated maternal serum +:7 le$el2, #astroschisis and omphalocele are distinctl( different. 'he( ha$e a dissimilar patho#enesis and can carr( a different pro#nosis dependin# on the associated anomalies, if present. ,t is important for ultrasono#raphers to understand these differences when dealin# with a patient who is carr(in# a fetus with one of these con#enital defects. "i ures !F% co$erin#. &F< 0mphalocele ? mass ad4acent to the fetal anterior a dominal wall with a mem rane co$erin#. &eferences or $u ested &eadin : !. Creas( R@ and Resnik R. Maternal6:etal Medicine. 7rinciples and 7ractice. 7hiladelphiaG SaundersE !BB<. %. &. <. ;. :leisher +S, et al. Sono#raph( in 0 stetrics and *(necolo#(. ConnecticutG +ppleton F Han#eE !BB=. Reece E+, .o ins JC, Mahone( MJ, et al. Medicine of the :etus and Mother. 7hiladelphiaG HippincottE !BB%. Callen 7W. Ultrasono#raph( in 0 stetrics and *(necolo#(. 7hiladelphiaG SaundersE !BB<. .arrison MR, *ol us MS, and :ill( R+. 'he Un orn 7atient, 7renatal Dia#nosis and 'reatment. 7hiladelphiaG SaundersE !BB!. =. /. Romero R, 7ilu *, Jeant( 7, et al. 7renatal Dia#nosis of Con#enital +nomalies. ConnecticutG +ppleton F Han#eE !B55 'winnin# 7, Mc.u#o JM, and 7illin# DW. 'e"t ook of :etal + normalities. Edin ur#hG Churchill Hi$in#stoneE %---.

*astroschisis ? free6floatin# owel loops with no mem rane

5. B. !-. !!.

Cher$enak :+, ,saacson *C, and Camp ell S. Ultrasound in 0 stetrics and *(necolo#(, Dolume % US+G .alE !BB&. Jones @H. Reco#ni8a le 7atterns of .uman Malformation. 7hiladelphiaG SaundersE !BB/. 7etriko$sk( CM. :etal Disorders, Dia#nosis and Mana#ement. New AorkG Wile(6HissE !BBB. :leischer +C, Romero R, Mannin# :+, et al. 'he 7rinciples and 7ractice of Ultrasono#raph( in 0 stetrics and *(necolo#(. ConnecticutG +ppleton F Han#eE !B5;.

About the Author Junise Swanson recei$ed her Cachelors de#ree from the Uni$ersit( of @entuck( in Nursin# in !B/=. She also conducted further post6#raduate studies in iolo#( in !B5/ from the Uni$ersit( of Houis$ille. She was a neonatal nurse for !< (ears in the Neonatal ,ntensi$e Care Unit at the Uni$ersit( of Houis$ille .ospital. :or the last / (ears she has een a 7erinatal Ultrasono#rapher at the Maternal :etal Medicine Center at the Uni$ersit( of Houis$ille .ospital, Norton .ealthcare3s Reproducti$e 'estin# Center, and 'he Maternal :etal Medicine Center of the Norton Su ur an .ospital. Jonathan Weeks, M.D. is a oard certified 0 stetrician ) *(necolo#ist and 7erinatolo#ist. .e is currentl( director of the Maternal :etal Medicine Center at Norton Su ur an .ospital. Dr. Weeks has se$eral pu lications in peer6re$iew medical 4ournals and has lectured at numerous meetin#s across the countr(. Examination: !. *astroschisis is a malformation of the a dominal wall that +. is commonl( associated man( different #enetic disorders. C. usuall( occurs to the left of the um ilicus ut the um ilicus is intact. C. onl( in$ol$es a few la(ers of the a dominal wall. D. has no mem ranous co$erin#.

E. allows a dominal contents to herniate throu#h the ase of the um ilicus. %. 'he incidence of #astroschisis worldwide is a out +. ! per !-,--- li$e irths. C. % per !-,--- li$e irths. C. & per !-,--- li$e irths. D. < per !-,--- li$e irths. E. ; per !-,--- li$e irths.

&.

0mphalocele 1E"omphalos2 is a midline defect +. where the a dominal contents herniate to the ri#ht side of the um ilicus. C. that rarel( contains the li$er, owel, and stomach. C. that allows a dominal contents to herniate throu#h the ase of the um ilicus. D. that has no mem rane co$erin#. E. where the a dominal contents herniate to the left side of the um ilicus. <. 'he incidence of omphalocele in li$e irths worldwide is a out +. / per !-,--- and increases with maternal a#e. C. / per !-,--- and decreases with maternal a#e. C. % per !-,--- and increases with maternal a#e. D. % per !-,--- and decreases with maternal a#e. E. < per !-,--- and is not affected ( maternal a#e. *astroschisis is a defect resultin# from a $ascular compromise of +. the left um ilical $ein C. the superior mesenteric arter( C. the inferior mesenteric arter( D. the splenic arter( E. the omphalomesenteric arter( Durin# the de$elopment of the em r(o, if the caudal fold tissue fails to fuse, it results in +. cloacal e"troph( of the ladder C. omphalocele C. #astroschisis D. 7entalo#( of Cantrell E. ectopia cordis Durin# the de$elopment of the em r(o, if the lateral tissue folds fail to fuse, it results in +. cloacal e"troph( of the ladder C. omphalocele

;.

=.

/.

C. D. E. 5.

#astroschisis 7entalo#( of Cantrell ectopia cordis

'he most common associated anomal(1s2 seen with #astroschisis is 1are2 +. prune ell( s(ndrome C. #enitourinar( tract a normalities C. con#enital heart defects D. intestinal tract complications E. h(drocephalus

B. +ssociated anomalies seen with #astroschisis include all of the followin# e"cept +. intestinal tract complications such as malrotation, atresia, and stenosis. C. ischemia of owel sections due to kinkin#, and o struction. C. con#enital heart defects D. #enitourinar( tract a normalities E. trisom( !5. !-. ,n re#ard to omphalocele ) e"omphalos, chromosome a normalities are seen in a out IIIIIII of fetuses. +. !-9. C. ;-9 C. %;9 D. /;9 E. B-9 0mphalocele can e seen with numerous different chromosome a normalities includin# triploid(, which is a fetus with +. <; chromosomes missin# an > C. </ chromosomes with an e"tra > C. </ chromosomes with an e"tra A D. </ chromosomes with an e"tra num er !& E. =B chromosomes

!!.

!%. Ceckwith6Wiedemann s(ndrome ma( e associated with all of the followin# e"cept +. an enlar#ed li$er C. enlar#ed kidne(s C. #rowth restriction D. omphalocele E. macro#lossia

!&. 'he ultrasound findin#s for #astroschisis ma( include all of the followin# e"cept +. multiple echo#enic free floatin# owel loops near the anterior a dominal wall C. no e$idence of a mem ranous co$erin# or sac C. pol(h(dramnios D. oli#oh(dramnios E. an um ilical cord that inserts into the mass !<. :actors that can sometimes make it difficult to identif( #astroschisis include all of the followin# e"cept +. the si8e of the defect C. the fetal si8e C. the #estational a#e D. too much amniotic fluid 1pol(h(dramnios2 E. the fetal position ,t is important not to make an incorrect dia#nosis of a fetal anomal( etween the 5th and !%th week of #estation ecause +. the fetal li$er and spleen are not completel( formed (et. C. the em r(onic owel normall( protrudes into the ase of the um ilical cord durin# this time period and could mimic an anomal(. C. the amount of amniotic fluid is too low at this point in #estation to make an accurate assessment. D. the fetal stomach u le is not $isi le enou#h to confirm the presence of owel. E. the um ilical cord at this #estational a#e looks like owel on ultrasound ima#in#.

!;.

!=.

'he ultrasound findin#s for omphalocele include +. a solid appearin#, round, echo#enic mass ad4acent to the anterior a dominal wall C. an um ilical cord that inserts to the ri#ht of the mass C. an um ilical cord that inserts to the left of the mass D. no e$idence of a mem ranous co$erin# or sac E. a herniation of a dominal contents to the ri#ht of the um ilicus !/. With a dia#nosis of #astroschisis, +. the fetus should ha$e follow6up ultrasounds to watch for macrosomia. C. the fetus should ha$e follow6up ultrasounds to watch for oli#oh(dramnios.

C. D. E. !5.

kar(ot(pin# 1#enetic amniocentesis2 should alwa(s e recommended ecause most cases of #astroschisis are associated with chromosome a normalities. the patient should deli$er ( cesarean section if the case is an isolated #astroschisis the o$erall pro#nosis is $er( poor with a sur$i$al rate of less than !-9.

Re#ardin# a potential dia#nosis of #astroschisis, one potential concern that ma( result in some prenatal testin# centers offerin# further #enetic testin#, such as amniocentesis, is +. the issue that an omphalocele ma( ha$e ruptured throu#h its mem rane co$erin#, mimickin# the appearance of a #astroschisis. C. the presence of owel ischemia due to kinkin#. C. the presence of oli#oh(dramnios. D. the presence of an ele$ated maternal serum alpha6 fetoprotein. E. the presence of owel thickenin# due to prolon#ed e"posure to amniotic fluid. With a dia#nosis of omphalocele ) e"omphalos, +. serial ultrasound e$aluations are indicated to watch for macrosomia ecause it is common with this disorder. C. rupture of the mem rane co$erin# is $er( common findin#. C. kar(ot(pin# 1#enetic amniocentesis2 is usuall( recommended, especiall( in the presence of other anomalies. D. if the defect is lar#e containin# the li$er, the patient should e informed that it is less traumatic to the li$er to deli$er $a#inall(. E. the risk of still irth is rare ecause omphalocele is usuall( not associated with other anomalies or chromosomal defects. Cecause of the other associated a normalities, appro"imatel( IIIIII of fetuses dia#nosed with omphalocele will not sur$i$e. +. !-9 C. %;9 C. &;9 D. ;-9 E. /;9

!B.

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