case presentations [read-only] · cystic mass in the chest cardiac displacement / abnormal axis....

Diagnostic DilemmasDiagnostic Dilemmas

John R. Allbert, MDJohn R. Allbert, MD

Presbyterian Maternal Fetal Medicine Presbyterian Maternal Fetal Medicine AssociatesAssociates

Charlotte, NCCharlotte, NC

U/S Detected Fetal MalformationU/S Detected Fetal Malformation

What Parents Want To KnowWhat Parents Want To Know

�� Prognosis (as close as possible)Prognosis (as close as possible)

Physical Physical

Mental Mental

Likelihood of other anomaliesLikelihood of other anomalies�� Likelihood of other anomaliesLikelihood of other anomalies

�� Need for further studiesNeed for further studies

�� Risk of recurrenceRisk of recurrence

Sonographer’s Tools Sonographer’s Tools

�� Textbooks, (Smith’s Recognizable Patterns of Textbooks, (Smith’s Recognizable Patterns of Human Malformations, Mendelian Inheritance Human Malformations, Mendelian Inheritance in Man)in Man)

�� Internet, (Pubmed, Ovid)Internet, (Pubmed, Ovid)�� Internet, (Pubmed, Ovid)Internet, (Pubmed, Ovid)

�� Journals, (Ultrasound in Obstetrics & Journals, (Ultrasound in Obstetrics & Gynecology, Journal of Ultrasound in Medicine, Gynecology, Journal of Ultrasound in Medicine, and Prenatal Diagnosisand Prenatal Diagnosis

Case #1Case #1

11+3/7 Weeks11+3/7 Weeks

Case #1Case #1


Ultrasound DescriptionUltrasound Description

�� Cystic mass in the chestCystic mass in the chest

�� Cardiac displacement / abnormal axisCardiac displacement / abnormal axis

Case # 1Case # 1

Differential diagnosisDifferential diagnosis

Thoracic CystThoracic Cyst

�� Congenital diaphragmatic herniaCongenital diaphragmatic hernia

�� Congenital cystic adenoid malformationCongenital cystic adenoid malformation

�� Bronchogenic cystBronchogenic cyst�� Bronchogenic cystBronchogenic cyst

�� Esophageal duplication cystEsophageal duplication cyst

�� Neurenteric cystNeurenteric cyst

�� TeratomaTeratoma

�� NeuroblastomaNeuroblastoma

Abnormal Cardiac AxisAbnormal Cardiac Axis

Differential DiagnosisDifferential Diagnosis

�� Absent lungAbsent lung

�� Intrathoraic massIntrathoraic mass

Cardiosplenic syndromeCardiosplenic syndrome�� Cardiosplenic syndromeCardiosplenic syndrome

�� Congenital diaphragmatic herniaCongenital diaphragmatic hernia

�� Pleural effusionPleural effusion

�� Scimitar SyndromeScimitar Syndrome

Congenital Diaphragmatic HerniaCongenital Diaphragmatic Hernia

�� Herniation of the abdominal contents into the Herniation of the abdominal contents into the chestchest

�� 8080--90% left sided posterior through foramen of 90% left sided posterior through foramen of BochdalekBochdalekBochdalekBochdalek

�� 10% right sided anterior through foramen of 10% right sided anterior through foramen of MorgagniMorgagni

�� <5% bilateral<5% bilateral


U/S CluesU/S Clues

�� Cystic structure in the chestCystic structure in the chest

�� Absent stomachAbsent stomach

�� Peristalsis in the chestPeristalsis in the chest

HydramniosHydramnios�� HydramniosHydramnios

�� Use color doppler to identify hepatic vesselsUse color doppler to identify hepatic vessels

�� Abdominal circumference smallAbdominal circumference small

Congenital Diaphragmatic HerniaCongenital Diaphragmatic Hernia50% have Associated Anomalies50% have Associated Anomalies

�� 30% CNS30% CNS

�� 20% cardiac20% cardiac

�� RenalRenal

SpinalSpinal�� SpinalSpinal

�� Aneuploidy in 16Aneuploidy in 16--37% (Trisomy 9,13,18, 21, 37% (Trisomy 9,13,18, 21, Deletion 4pDeletion 4p--, tetrasomy 12p), tetrasomy 12p)


�� Up to 85% contain herniated liver, usually left Up to 85% contain herniated liver, usually left lobe next to the heart with the stomach lobe next to the heart with the stomach displaced posteriorlydisplaced posteriorly

�� Can use color Doppler to follow portal veinCan use color Doppler to follow portal vein�� Can use color Doppler to follow portal veinCan use color Doppler to follow portal vein

�� Right sided may be confused for chest mass and Right sided may be confused for chest mass and stomach is below the diaphragm, though stomach is below the diaphragm, though gallbladder may be in chestgallbladder may be in chest


GeneticsGenetics

�� Sporadic 1:2Sporadic 1:2--5K5K

�� AneuploidyAneuploidy

�� Autosomal dominantAutosomal dominant

�� Fryns Syndrome: autosomal recessiveFryns Syndrome: autosomal recessive�� Fryns Syndrome: autosomal recessiveFryns Syndrome: autosomal recessive

Facial and digital abnormalitiesFacial and digital abnormalities

Cleft lip and palateCleft lip and palate

CNS malformationsCNS malformations

MicrognathiaMicrognathia

Case #1Case #1


Right Side Left Side

Case #1Case #1


RightLeft RightLeft

Case #1Case #1


First TrimesterFirst Trimester

Diaphragmatic HerniaDiaphragmatic Hernia

Normal CDH

Case #1Case #1


Increased NTIncreased NT

Diaphragmatic HerniaDiaphragmatic Hernia

�� 1/40001/4000

�� Aneuploidy and other anomalies 50%Aneuploidy and other anomalies 50%

�� Venous congestion probable cause of nuchal Venous congestion probable cause of nuchal edemaedemaedemaedema

�� 37% of all cases of CDH37% of all cases of CDH

�� 83% of those with NND secondary to pulmonary 83% of those with NND secondary to pulmonary hypoplasiahypoplasia

�� 22% of survivors22% of survivors

Case #2Case #2

AscitesAscites

Isolated AscitesIsolated Ascites

�� Anechoic fluid in the abdomenAnechoic fluid in the abdomen

�� Rule out pseudoascitesRule out pseudoascites

�� Rule out hydropsRule out hydrops

Pleural and pericardial effusionPleural and pericardial effusionPleural and pericardial effusionPleural and pericardial effusion

EdemaEdema

HydramniosHydramnios

Placentomegaly (>4 cm)Placentomegaly (>4 cm)


DifferentialDifferential

�� Perforated bowel secondary to anomaly such as Perforated bowel secondary to anomaly such as atresias, malrotation, volvulusatresias, malrotation, volvulus

�� Urinary ascites secondary to PUV, UPJ, UVJUrinary ascites secondary to PUV, UPJ, UVJ

�� Ruptured ovarian cystRuptured ovarian cyst�� Ruptured ovarian cystRuptured ovarian cyst

�� Cloacal malformation with perforationCloacal malformation with perforation

�� Immune hydropsImmune hydrops

�� Nonimmune hydropsNonimmune hydrops


Nonimmune HydropsNonimmune Hydrops

�� Infection: Parvo B19, CMV, varicella, Infection: Parvo B19, CMV, varicella, toxoplasmosis, syphyllistoxoplasmosis, syphyllis

�� Aneuploidy: 45XO and trisomy 21 most Aneuploidy: 45XO and trisomy 21 most commoncommoncommoncommon

�� Cardiac anomaly or arrythmiaCardiac anomaly or arrythmia

�� Fetal mass: CCAM, PS, teratomaFetal mass: CCAM, PS, teratoma

�� Chylous ascitesChylous ascites

�� Placental chorioangiomaPlacental chorioangioma

AscitesAscites

MCA DopplerMCA Doppler

PSV=27 cm/s

Ascites Ascites

Right KidneyRight Kidney

AscitesAscites

Bladder @ 29 weeksBladder @ 29 weeks

0.27 cm

Right Kidney Right Kidney

Right Kidney Right Kidney

Posterior Urethral ValvePosterior Urethral Valve

UroascitesUroascites

Case # 3Case # 3

Case # 3Case # 3

Right Sided Abdominal MassRight Sided Abdominal Mass

28 Weeks Left Kidney28 Weeks Left Kidney

Right Side Abdominal MassRight Side Abdominal Mass

28 Weeks28 Weeks

Kidney at 30 weeksKidney at 30 weeks

Kidney 55.8 mm

Mass 30 WeeksMass 30 Weeks

Amniotic Fluid At 30 WeeksAmniotic Fluid At 30 Weeks

Unilateral Solid Pelvic MassUnilateral Solid Pelvic Mass

�� Renal TumorRenal Tumor--Mesoblastic Nephroma, Wilms tumor, Mesoblastic Nephroma, Wilms tumor, Rhabdoid tumorRhabdoid tumor

�� Multicystic dysplastic kidneyMulticystic dysplastic kidney

�� Autosomal recessive polycystic kidney diseaseAutosomal recessive polycystic kidney disease

Autosomal dominant polycystic kidney diseaseAutosomal dominant polycystic kidney disease�� Autosomal dominant polycystic kidney diseaseAutosomal dominant polycystic kidney disease

�� BeckwithBeckwith--Wiedemann SyndromeWiedemann Syndrome

�� Adrenal lesionsAdrenal lesions

�� Retroperitoneal teratomaRetroperitoneal teratoma

�� Crossed fused ectopyCrossed fused ectopy

Congenital Mesoblastic NephromaCongenital Mesoblastic Nephroma

�� Most common renal fetal neoplasmMost common renal fetal neoplasm

Congenital Mesoblastic NephromaCongenital Mesoblastic Nephroma

�� Benign mesenchymal renal tumor composed of Benign mesenchymal renal tumor composed of predominantly of spindle cellspredominantly of spindle cells

�� Diagnosis: solid hyperechoic renal mass + Diagnosis: solid hyperechoic renal mass + hydramnios, may have ring signhydramnios, may have ring signhydramnios, may have ring signhydramnios, may have ring sign

�� May displace abdominal organs and cause bowel May displace abdominal organs and cause bowel obstructionobstruction

�� Hydrops may occur (AV shunting vs venous Hydrops may occur (AV shunting vs venous obstruction)obstruction)

�� HypercalcemiaHypercalcemia

Mesoblastic NephromaMesoblastic Nephroma

NeonateNeonate

�� Preterm DeliveryPreterm Delivery

�� HypercalcemiaHypercalcemia

�� HypertensionHypertension

Large abdominal circumferenceLarge abdominal circumference�� Large abdominal circumferenceLarge abdominal circumference

�� Rare recurrenceRare recurrence

Mesoblastic NephromaMesoblastic Nephroma

TreatmentTreatment

�� Amnioreduction Amnioreduction

�� Nephrectomy with wide marginsNephrectomy with wide margins

Case # 4Case # 4Case # 4Case # 4

Kidneys 19 WeeksKidneys 19 Weeks


Length 3.7 cm

Ultrasound FindingsUltrasound Findings

�� Enlarged echogenic kidneysEnlarged echogenic kidneys

�� OligohydramniosOligohydramnios

Enlarged KidneysEnlarged Kidneys


�� Autosomal dominant polycystic kidney diseaseAutosomal dominant polycystic kidney disease

�� Autosomal recessive polycystic kidney diseaseAutosomal recessive polycystic kidney disease

�� Bilateral multicystic dysplastic kidneyBilateral multicystic dysplastic kidney

�� BeckwithBeckwith--Wiedemann syndromeWiedemann syndrome�� BeckwithBeckwith--Wiedemann syndromeWiedemann syndrome

�� MeckelMeckel--Gruber syndromeGruber syndrome

�� Trisomy 13Trisomy 13

�� Normal variantNormal variant

�� Tuberus sclerosis (usually not seen in utero)Tuberus sclerosis (usually not seen in utero)

ARPKDARPKD

AutopsyAutopsy

Autosomal RecessiveAutosomal Recessive

Polycytic Kidney DiseasePolycytic Kidney Disease

�� Ectatic distal convoluted tubules and collecting Ectatic distal convoluted tubules and collecting ducts with increasing volume of the medulladucts with increasing volume of the medulla

�� Incidence 1/20Incidence 1/20--50 K50 K

�� Gene (PKHD1) on Chromosome 6p12Gene (PKHD1) on Chromosome 6p12�� Gene (PKHD1) on Chromosome 6p12Gene (PKHD1) on Chromosome 6p12

ARPKDARPKD

ManagementManagement

�� Amniocentesis / CVSAmniocentesis / CVS

�� Offer terminationOffer termination

�� Monitor abdominal circumferenceMonitor abdominal circumference

Predelivery consultation with pediatric Predelivery consultation with pediatric �� Predelivery consultation with pediatric Predelivery consultation with pediatric nephrologistnephrologist

�� Encourage autopsyEncourage autopsy

Case #5Case #5Case #5Case #5

22 Weeks Renal Fossa22 Weeks Renal Fossa

2.4X1.7 cm


Fetal Head Fetal Feet

Ultrasound FindingsUltrasound Findings

�� Unilateral left sided suprarenal massUnilateral left sided suprarenal mass

�� Homogenously echogenicHomogenously echogenic

�� Normal appearing kidneysNormal appearing kidneys

Both adrenals seenBoth adrenals seen�� Both adrenals seenBoth adrenals seen



�� NeuroblastomaNeuroblastoma

�� Bronchopulmonary sequestrationBronchopulmonary sequestration


Aorta

Subdiaphragmatic BPSSubdiaphragmatic BPS

�� Bronchopulmonary tissue that does not connect Bronchopulmonary tissue that does not connect to the tracheobronchial tree with the feeding to the tracheobronchial tree with the feeding vessel originating from the aortavessel originating from the aorta

�� 1010--15% of BPS are subdiaphragmatic15% of BPS are subdiaphragmatic�� 1010--15% of BPS are subdiaphragmatic15% of BPS are subdiaphragmatic

�� 90% left90% left--sidedsided

�� Spontaneous regression commonSpontaneous regression common

�� Genetics: sporadic with no recurrence riskGenetics: sporadic with no recurrence risk

�� Associated anomalies in up to 50%Associated anomalies in up to 50%

BPSBPS

�� MRI or CT after deliveryMRI or CT after delivery

�� Embolization of feeding vesselEmbolization of feeding vessel

�� Surgical ligation and resectionSurgical ligation and resection

Final CaseFinal Case

32 Week IUP 32 Week IUP Referred for Decreased Fetal MovementReferred for Decreased Fetal Movement

32 Week IUP32 Week IUP

Decreased MovementDecreased Movement

Velamentous CordVelamentous Cord

Vasa PreviaVasa Previa

IVF PatientIVF Patient

Transabdominal View of CervixTransabdominal View of Cervix

34 Week Twins34 Week Twins

Conceived with IVFConceived with IVF

34 Week IVF Twins34 Week IVF Twins

Transvaginal U/STransvaginal U/S

FHR 142 bpm

PreviaPrevia

Transvaginal UltrasoundTransvaginal Ultrasound

Vasa PreviaVasa Previa

Risk FactorsRisk Factors

�� Placenta previaPlacenta previa

�� Low lying placentaLow lying placenta

�� IVF patientsIVF patients

Velamentous cord insertionVelamentous cord insertion�� Velamentous cord insertionVelamentous cord insertion

�� Patients with vaginal bleedingPatients with vaginal bleeding

�� Always lookAlways look

ConclusionConclusion

�� Describe the ultrasound findings of the Describe the ultrasound findings of the abnormalityabnormality

�� Confirm by looking at abnormality from at least Confirm by looking at abnormality from at least two different anglestwo different anglestwo different anglestwo different angles

�� Look for other anomaliesLook for other anomalies

�� Use color Doppler for all cystic lesions, Use color Doppler for all cystic lesions, (Aneurysms), and to evaluate feeding vessels(Aneurysms), and to evaluate feeding vessels

�� Always ask “What else could it be”Always ask “What else could it be”

ConclusionConclusion

What Do You Tell The PatientWhat Do You Tell The Patient

�� Avoid being evasive, they can read your faceAvoid being evasive, they can read your face

Describe the findingsDescribe the findings�� Describe the findingsDescribe the findings

�� Find the silver liningFind the silver lining

Abdominal Tubular CystAbdominal Tubular Cyst

18 Weeks18 Weeks

Abdominal CystAbdominal Cyst

18 Weeks18 Weeks



�� Bowel Atresia (duodenal, jejunal, ileal)Bowel Atresia (duodenal, jejunal, ileal)

�� Ovarian cystOvarian cyst

�� Enteric duplicationEnteric duplication

�� Mesenteric cystMesenteric cystMesenteric cystMesenteric cyst

�� Choleductal cystCholeductal cyst

�� HydrocolposHydrocolpos

�� Urachal CystUrachal Cyst

�� Most cystic abdominal masses are related to the urinary Most cystic abdominal masses are related to the urinary tracttract

Intestinal AtresiasIntestinal Atresias

�� Hyperperistalsis Hyperperistalsis

�� Bowel contents, (succus entericus) are often Bowel contents, (succus entericus) are often echogenicechogenic

�� Risk is perforation, (always consider this in Risk is perforation, (always consider this in �� Risk is perforation, (always consider this in Risk is perforation, (always consider this in isolated ascitesisolated ascites

�� Normal colon is often prominent in the 3Normal colon is often prominent in the 3rdrd

trimester with normal caliber 18 mmtrimester with normal caliber 18 mm

Intracerebral CystIntracerebral Cyst

Intracerbral CystIntracerbral Cyst

Cranial 3Cranial 3--D Sectional PlanesD Sectional Planes

Intracerebral CystIntracerebral Cyst


�� Glioependymal cystGlioependymal cyst

�� SchizencephalySchizencephaly


�� Dandy Walker coninuumDandy Walker coninuum�� Dandy Walker coninuumDandy Walker coninuum

�� Porencephalic cystPorencephalic cyst-- replaces damaged brainreplaces damaged brain

�� Intracranial hemorrhage (subacute)Intracranial hemorrhage (subacute)

�� Vein of GalenVein of Galen

�� Arachnoid cystArachnoid cyst

Arachnoid CystArachnoid Cyst

�� Smooth marginated anechoic cystSmooth marginated anechoic cyst

�� Remaining brain normal in most casesRemaining brain normal in most cases

�� ACC in 5% of supratentorial cystsACC in 5% of supratentorial cysts

May have ventriculomegalyMay have ventriculomegaly�� May have ventriculomegalyMay have ventriculomegaly


LocationLocation

�� Cerebral convexitiesCerebral convexities

�� 1/3 in the posterior fossa1/3 in the posterior fossa


ManagementManagement

�� AmnioAmnio

�� Monitor for growthMonitor for growth

�� Head size may impact timing of deliveryHead size may impact timing of delivery

case presentations [read-only] · cystic mass in the chest cardiac displacement / abnormal axis....

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