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FetalRenalMalformations:TheRoleofUltrasoundinDiagnosis

&Management

AlfredAbuhamad,M.D.EasternVirginiaMedicalSchool

Outline1.  RenalAnomalies

•  UrinaryTractDilation•  AberrantEarlyDevelopment•  DefectsTerminalMaturation

GUUltrasoundinFirstTrimester

FetalBladder

4

Bladder Bladder Bladder

13 weeks 13 weeks 12 weeks

5

FetalBladder

12 weeks

FetalBladder

• Seenin88%at12weeks• Seenin92–100%at13weeks• RenalsourceofAFis>16weeks

Ultrasound Obstet Gynecol 2003; 21: 338–341 Ultrasound Obstet Gynecol 1996; 7: 95–100

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7

NormalBladderLength<7mm

12 weeks

Megacystis(7-15mm)•  Chromosomalanomaliesin24%•  Withnormalchromosomes:

•  Resolutionin90%•  Renalanomaliesin10%

UltrasoundObstetGynecol2003;21:338

9

Megacystis(12mm)

Normal(6mm)

Megacystis(>15mm)

•  Chromosomalanomaliesin11%•  Withnormalchromosomes:

•  Renalanomaliesin100%

UltrasoundObstetGynecol2003;21:338

Kidneys(FirstTrimester)

A B

Kidneys

Kidneys

13 weeks 11 weeks

Axial

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13

Coronal

Kidneys

Kidneys

Adrenals

Adrenals

Most Optimal in First Trimester

FetalKidneys

• Seenin86-99%at12weeks• Seenin92–99%at13weeks

Ultrasound Obstet Gynecol 1996; 7: 95–100

FetalSex

• Inaccuratebefore12weeks• Accuracyincreaseswithadvancinggestationalage

• Greaterthan95%at>13weeks

Obstet Gynecol Surv 2009; 64: 50–57 16

Female

Male

ClassificationofRenalMalformations

Urinary Tract Dilation Aberrant Early Development Defects Terminal Maturation

UPJ

PUV

Hypoplasia Aplasia

MCDK ADPKD ARPKD

UVJ UV Reflux

Syndromes

Duplex

Urethral Atresia

•  Cell biology •  Genetics •  Embryology

Megaureter

Fusion Disorders

Ectopic Kidney

Spectrumwithsignificantoverlap

UrinaryTracyDilation

• UreteropelvicJunctionObstruction• UreterovesicalJunctionObstruction• VesicoureteralReflyux• LowerUrinaryTractObstruction• PruneBellySyndrome

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-  Dilatedrenalpelvis(+/-calyces)-  Nonvisibledistalureter(normal)-  NormalBladder

UrinaryTractDilation Referto:UreteropelvicJunctionObstruction

•  Physiologic(functional)–  Maternalhormones–  Overhydration

•  Upperureteralstenosis•  Obstructionbyanoverridingvessel

Etiology

Schematicfrom:http://www.chop.edu/conditions-diseases

Obstet Gynecol 1998;92:137–41

Increaseby2-3mm

- Obstructive- Physiologic

RenalPelvisDilationCanwedifferentiateprenatally?

•  Moredilation•  Calycealinvolvement•  Progressiveworsening

SuggestObstructive

Transient or physiologic

58%

Ureteropelvic junction (UPJ)

obstruction 30%

Vesicoureteric reflux (VUR)

10%

Utereterovesical junction (VUJ)

obstruction 1%

Vesico-outlet obstruction

1%

UrinaryTractDilation

Whatisadilatedrenalpelvis?

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Parameter Measurement Notes

Anterior-PosteriorRenalPelvicDiameter(APRPD) (mm)

Measuredontransverseimageatthemaximaldiameterofintrarenalpelvis16-27weeks ≥28weeks Postnatal

<4mm <7mm <10mm

UreteropelvicJunctionObstruction

•  1/3ofallUTD•  1in1,000-2,000livebirths• M:F2:1•  90%unilateral•  2/3involvetheleftkidney•  12%associatedwithextra-renalanomaly

Epidemiology

Schematic drawing retrieved from http://www.chop.edu/

• Massivedilationofrenalpelviswithoutdilatedcalycealsystem,implieslesserdegreeofobstruction

•  Intrarenaldilationposesariskforlossoffunction

UreteropelvicJunctionObstruction UreteropelvicJunctionObstructionProgressivedilation–Poorprognosis

23 weeks 28 weeks 32 weeks


• Mildcasesalmostalwaysresolvein12-24months

• Severecaseswillshowimprovementin70-80%

J Urol 2002;168:1118 – BJU Int 2003;91(9):850 – Urology 2009;73(3):521

CanUPJOresolvespontaneously?



Canwepredictneedforsurgeryonprenatalsonography?


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Journal of Urology 2013;190:661

•  FetalUTDof18mm•  NeonatalUTDof16mm

•  Sensitivityof100%•  Specificityof86%•  (95%CI80.7–89.9)


• Whenfunctionislow,itisunlikelytoimprove

• Goalofsurgicalinterventionistopreservecurrentfunction

JUrol1999;162:1041

Iffunctionislow,cansuccessfulsurgeryimproveit?


-  Dilatedrenalpelvis(+/-calyces)-  Dilateddistalureter-  NormalBladder

UrinaryTractDilation •  UreterovesicalJunctionobstruction

•  Megaureter•  Vesico-ureteralreflux•  Duplexkidney

Etiology


-  Dilatedrenalpelvis(+calyces)-  Dilateddistalureter-  Abnormaldilatedthickenedbladder

UrinaryTractDilation LowerUrinaryTractObstruction

•  Posteriorurethralvalvesin50-60%

•  Urethralatresiain20-40%•  Urethralstenosis•  Prunebellysyndrome

•  Cloacaldystrophy•  Megacystis-microcolonsyndrome

Etiology

Pediatric Urology. 2014; 84 (1)185.


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UltrasoundFindings• Dilatedrenalpelvis• Dilatedureter• Abnormalbladder

Vesico-OutletObstructionUltrasoundFindings

• Megacystis•  Thickenedbladderwall>3mm•  “Keyhole”sign:dilatedposteriorurethra

•  Bilateralhydronephrosisorcorticalcysts

•  Oligohydramnios

FirstTrimesterVesico-OutletObstruction Vesico-OutletObstruction

• Detailedultrasound• Amniocentesis(vesicocentesis)forCGH• Assesskidneys(size,echogenicity,corticalcysts)• Evaluateurineforprognosticindices• Comprehensivecounselingofparents

PrenatalEvaluation

Vesico-OutletObstructionBladderRupture

HowGoodareweinPredictingPrognosis?

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•  Lookforobstructivecysticdysplasia–  Small–  Echogenic–  Cysticchanges– Oligohydramnios

Vesico-OutletObstructionEvaluationofKidneys

PoorPrognosis

EvaluationofRenalFunction

J Pediatr Surg. 1985 Aug;20(4):376 - Pediatric Research. Nov 2012; 72(5):446 – J Urol 2004;172:852

Vesico-OutletObstruction

Prenatal Diagnosis 2007;27:900

HowGoodareweinpredictingPrognosis?

Sci Transl Med 2013;5:198.


•  Ultrasound•  Urineelectrolytes

MarginallyPredictiveofPoorOutcome

Recentstudysuggestsimprovedpredictionbyusing12urinaryproteins(PUV12)

HowGoodareweinpredictingPrognosis?


•  NormalAVF•  EGAatdiagnosis>24weeks

PredictiveofGoodOutcome

Lancet2013;382:1496–1506.

LUTO-TherapeuticIntervention

• Vesico-amnioticshunt• Fetalcystoscopy-Laser

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HowEffectiveisShuntingasaTherapeuticIntervention?

J of Urology 2005;174:1031.

TreatmentofObstruction

Long-termOutcomesinChildrenTreatedbyPrenatalShunting

• RenalFunction:

– 45%acceptable

– 22%mildinsufficiency

– 33%dialysisand/ortransplant

Obstet Gynecol 2005;106:503

TreatmentofObstruction•  Retrospectivecohortstudyof111fetuseswithobstruction•  Patientsofferedfetalcystoscopy,vesico-amnioticshuntingornointervention

•  Comparedtonointervention–  Bothinterventionsassociatedwithstatisticallysignificantincreasedsurvival

(RR1.7-1.8,P=0.04-0.05)–  Fetalcystoscopysignificantlyimproved6monthsrenalfunctionincasesof

posteriorurethralvalves(P=0.03)

Ultrasound Obstet Gynecol, 2011; 37: 696–701.

Intervention N Survivalrate

Ofsurvivors,normalrenalfunctionat6months

Fetalcystoscopy 34 44% 75%

Vesicoamnioticshunting 16 38% 60%

None 61 20% 40%

• 50fetalcystoscopies(31withPUV–1trisomy18)• Year1:

– 17/30(56.7%)survived,– 13/17(76.5%)hadnormalrenalfunction

• Year2:– 15/28(53.6%)survived,– 11/15(73.3%)hadnormalrenalfunction

Prenatal Diagnosis 2016, 36, 297–303

TreatmentofObstruction

•  Vesicoamnioticshunting(VAS)andcystoscopyimprovessurvivaloverconservativemanagement

•  Long-termimpactonrenalfunctionispoorwithVASandconservativemanagement

•  Cystoscopyappearstoimprovelong-termrenalfunction,butthereislackofrobustdataatthisstage

Lancet2013;382:1496–1506.

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AberrantEarlyDevelopment

• DuplicatedRenalCollectingSystem• RenalAplasia• RenalFusionDisorders• MulticysticDysplasticKidney

DuplicatedRenalCollectingSystem

• DuplexKidney• 2pelvicalycealsystems• UpperPole(1/3)• LowerPole(2/3)– Uncomplicated– Complicated(most)


WhenComplicated• UpperPole– Ureteralectopia– Ureterocele

• LowerPole– VesicoureteralReflux– UreteropelvicJunctionObstruction


UreterEctopia• Mostcommonlocationisbladderneck

• Butcanbeanywhereingenitaltract

• Degreeofectopiacorrelateswithupperpoledysplasia(obstruction)

J Urology 1997;158:1245

UltrasoundFindings

UltrasoundObstetGynecol:1996;7:174.

•  Sagittallengthofkidney>95th%•  “Cyst-like”structureintheupperpole

•  Twoseparaterenalpelves•  Ureteroceleintheurinarybladder

•  Dilatedureter,usuallyfromtheupperpole

DuplicatedRenalCollectingSystem“Cyst-likeStructureinUpperPole”

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DuplicatedRenalCollectingSystem“DilatedUreter”

DuplicatedRenalCollectingSystem“Ureterocele(s)inBladder”


UltrasoundFindings

Abuhamad1996.UltrasoundObstetGynecol:7;174.

• Ureteroceleinthebladderisoftenfirstcluetodiagnosis

• Keepinmindthatureterocelescancollapsewithfullbladder

RenalAplasia,FusionandMigrationAnomalies

• RenalAgenesis– Bilateral– Unilateral

• Ectopickidney• Fusiondisorders:– Horseshoekidney– Crossedectopia

BilateralRenalAgenesis

UltrasoundFindings•  Anhydramnios•  Emptyrenalfossabilaterally•  Bladdercannotbevisualized•  Dopplershowsnorenalarteries

•  Flatadrenalgland•  Hypertrophiccardiomyopathy

Bilateral Renal Agenesis

13 weeks


AmnioticFluid

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FlatAdrenal

FlatAdrenal


12 weeks 13 weeks

UnilateralRenalAgenesis

• Prevalence1in2000births• Significantassociationwithanomaliesin30%• Contralateralvesico-urinaryrefluxin20%• Lookforrenalectopiabeforefinaldiagnosis•  Increaseriskforhypertensionlaterinlife

UnilateralRenalAgenesisUltrasoundFindings

UltrasoundQuarterly.2010;26(4).233

•  NormalAFV•  Emptyrenalfossaunilaterally•  NormalBladder•  Largenormalkidney•  Dopplershowsnorenalarteryonmissingside

•  Flatadrenalglandonmissingside

UnilateralRenalAgenesisUltrasoundFindings

EctopicKidneyEpidemiology

UltrasoundQuarterly.2010;26(4).233-240.

•  1in500-3,000livebirths•  40%ofcasesofemptyrenalfossa

•  Mostcommonlocationinpelvis,abovebladder

•  Couldbeanywhereinbody

PelvicKidneyUltrasoundFindings

UltrasoundQuarterly.2010;26(4).233-240.

•  Unilateralemptyrenalfossa•  Normalcontralateralkidney•  Commonly,superiortothebladder

• Mayhaveabnormalmorphology

•  Variablebloodsupply

Schematic drawing from http://renalsystem.weebly.com/congenital-anomalies1.html

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PelvicKidney

UltrasoundFindings

74

Pelvic kidney

Normal kidney

Adrenal glands

FirstTrimesterPelvicKidney

ThoracicKidneyEctopicKidney HorseshoeKidney

Etiology•  Kidneysfuseduringdevelopment•  Mostcommonlythelowerpoles•  Bridgingtissue=“isthmus”•  Isthmusbecomestetheredbelowtheinferiormesentericartery

•  Incompleteascentofkidneys

UltrasoundQuarterly.2010;26(4).233-240.Schematic drawing from http://renalsystem.weebly.com/congenital-anomalies1.html

HorseshoeKidneyUltrasoundFindings

•  Coronalview–mostoptimalfordiagnosis

•  Renaltissue(isthmus)overthespine• Multiplerenalarteries• Malrotationwithreversedlongitudinalaxisofeachkidney

J Ultrasound Med. 2000;19(1):27- UOG, 2005; 25: 554

HorseshoeKidney

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Horseshoe Kidney HorseshoeKidney

FirstTrimester

Horseshoe Kidney HorseshoeKidney

14weeks

CrossedFusedRenalEctopiaEpidemiology•  1in2,000-7,000•  Associatedanomalies

–  Uterine–  imperforateanus–  skeletal

Etiology•  Abnormalfusion•  Ureteroffusedkidneycrosses

midline•  Insertsnormallyinbladder

Ultrasound Quarterly. 2010; 26(4). 233-240. Schematic drawing from http://renalsystem.weebly.com/congenital-anomalies1.html

CrossedFusedRenalEctopia

UltrasoundFindings•  Unilateralemptyrenalfossa•  Bilobed,enlarged-appearingkidney

•  Atleast2renalarteries•  Norenaltissueoverspineoncoronalview

•  Ectopickidneymaybecomplicatedbycysticdysplasia

Ultrasound Quarterly. 2010; 26(4). 233-240.

CrossedFusedRenalEctopiaUltrasoundFindings

MulticysticDysplasticKidney•  Anabnormallyfunctioningkidney•  Normalrenaltissueisreplacedbycysts•  Pathogenesis:

–  Atresiaoftheuterteralbud–  Subsequentenlarged,non-communicatingcollectingtubulesformingcysts

Prenatal Diagn 2001; 21: pp. 924

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MulticysticDysplasticKidney

Epidemiology•  Unilateral:1/4000births•  Bilateral:1/10,000births• M:F2 : 1• Worseinfemales•  75%Unilateral

Prenat Diagn 2001; 21: pp. 924-935 and Brown Medical School Digital Pathology, retrieved from: http://www.brown.edu/Courses/Digital_Path/systemic_path/renal/multicystic.html


UltrasoundFindings•  Brightechogenicappearance•  Canbeanysize•  Multipleirregularnon-communicatinganechoiccysts

•  Lackofrenalpelvis•  Interveningparenchymaechogenicduetocompressionbythecysts

Prenat Diagn 2001; 21:924

MulticysticDysplasticKidneyUltrasoundFindings

•  SmalltoabsentrenalarterywithabnormalDoppler

•  Temporalchangeinsome•  Upto35%withextrarenalanomalies•  About10%aneuploidywhenassociatedwithotheranomalies


MulticysticDysplasticKidney•  Approximately25%ofcontralateralkidneysareabnormal–  Vesicoureteralreflux–  Ureteropelvicjunction(UPJ)obstruction–  Ureterovesicaljunction(UVJ)obstruction–  Ectopicureter–  Renalagenesis

Prenat Diagn 1999; 19: 418–423.


• Majorityinvoluteovertime• Longtermincreaseinhypertensionandtumors

• Riskislow,electivenephrectomyisnolongerroutinelyperformed

• Longtermsmallriskofchronicrenalfailure


Long-TermOutcome

LargeHyperechoicKidneys

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DefectsinTerminalMaturation

• AutosomalRecessivePolycysticKidneyDisease(ARPKD)

• AutosomalDominantPolycysticKidneyDisease(ADPKD)

PartofCiliopathygroupofSyndromes

PolycysticKidneyDisease

• AutosomalRecessivePolycysticKidneyDisease(ARPKD)– Cystsoriginatefromcollectingducts– Numeroussmallcysts

• AutosomalDominantPolycysticKidneyDisease(ADPKD)– Cystsoriginatefromallnephron– Fewerlargercysts

KeyDifference

•  Singlegenedisorder•  1:20,000-50,000births• M:F=1

• MutationofPKHD1gene-chromosome6p12

•  Encodeabnormalproteins,fibrocystins,causingnumeroussmallcyststoforminthecollectingtubules

AutosomalRecessivePKDIncidenceandPathogenesis

AutosomalRecessivePKDUltrasoundFeatures•  Enlargedhyperechoickidneys(>2SD)•  Lossofcortico-medullarydifferentiation

•  Cystsundetectablebyultrasound•  Difficulttodiscerncalycealpattern•  Smallorabsentbladder•  Oligohydramnios•  Kidneyechogenicitycanbeseenby12-16weeks

•  PrenataldiagnosisifinformativePrenat Diagn 2001; 21:924

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Fetus 1- ARPKD Fetus 2 - Sibling - ARPKD

AutosomalRecessivePKDFirstTrimester

•  Variablephenotypeexpression•  Eitherverypoorwithdeathinneonatalperiod•  Quitereasonableifsurviveneonatalperiod

•  Severehypertension,• Hepaticfibrosis• Recurrentinfections

AutosomalRecessivePKDPrognosis

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AutosomalDominantPKDIncidenceandPathogenesis

•  1/1000births•  MutationsinthePKD-1(85%)orPKD-2(15%)genes(Chromosome16)

•  PKD-2associatedwithmilderdisease•  Largecyststhroughoutthenephron•  Interstitialfibrosis•  Hypertensionandrenalfailureinadulthood

PrenatDiagn2001;21:pp.924-935

AutosomalDominantPKDUltrasoundFeatures

•  Enlargedechogenickidneys•  Individualcystsmaybevisible•  Calycealsystemtypicallyvisible•  Normalbladder•  Normalamnioticfluid•  Parentwithrenalcysts•  Kidneyechogenicityrarelyseenbefore16weeks

PrenatDiagn2001;21:924

AutosomalDominantPKD AutosomalDominantPKDMaternalKidneys

Prognosis

• Usuallyasymptomaticuntil5thdecade

• PresentswithHTN&end-stagerenalfailure

• Accountsfor10-15%ofrenaldialysisortransplant

AutosomalDominantPKD Conclusions•  Understandspectrumofrenalabnormalitiesandoverlapbetweenentities

•  NewUTDclassification(2014)•  Normalamnioticfluid>14weeksindicatesrenalfunction

•  Complexityinpatientcounseling–manyrenaldiseaseshavevariableexpression

•  Isolatedunilateralrenalanomaliesareusuallyassociatedwithgoodoutcomes

•  Bilateralrenalanomaliescarriesguardedprognosis

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