OBJECTIVES To discuss the different types of OB ultrasound

examinations with emphasis on what is done here

at CHOP at the time of the initial evaluation

To emphasize the important components of a

detailed obstetrical scan versus a routine 2nd or 3rd

trimester scan

To illustrate with interesting cases how we perform

these scans and to show how additional findings

can significantly influence patient counseling,

management and ultimately outcomeS L I D E : 2

OBSTETRICAL US EXAMINATIONS

DIFFERENT TYPES OF OB US SCANS

CODE DESCRIPTION

76801 Standard US<14 wks

76805 Standard US>14 wks

76811 Detailed Anatomy Scan

76815 Limited Scan=“Quickie”

76816 Follow Up Scan

76820 Umbilical Artery Doppler

76821 Middle Cerebral Artery Doppler

93976 Uterine Artery Doppler

STANDARD ANATOMY SCAN

WHAT FETAL ANATOMY DOES THIS SCAN INCLUDE?

The Five C’s in the Fetal Head

CP, Cerebral ventricles, CSP, Cerebellum & Cisterna Magna

4CH with Inflow and Outflow Tracts

Stomach

Abdominal Cord Insertion

Kidneys

Bladder

Spine Longitudinal & Transverse

Three Vessel Umbilical Cord

DETAILED ANATOMY SCAN

WHAT FETAL ANATOMY DOES THIS SCAN INCLUDE?

Consensus report on the Detailed Fetal Anatomic

Ultrasound Examination: Indications, Components,

and Qualifications.

J Ultrasound Med 33(2): 189-195, 2014

Wax J, Minkoff H, Johnson A, Coleman B, Levine D, Helfgoff A,

O’Keefe D, Henningsen C, Benson, C.

Participants included representatives from the American Institute of Ultrasound in

Medicine (AIUM), Society of Maternal Fetal Medicine (SMFM), American College of

Obstetricians and Gynecologists (ACOG), American College of Osteopathic Obstetricians

and Gynecologists (ACOOG), American College of Radiology (ACR), Society of Diagnostic

Medical Sonography (SDMS) and Society of Radiologists in Ultrasound(SRU)

DETAILED ANATOMY SCAN

HEAD & NECK STRUCTURES

3rd & 4th Ventricles CB Lobes, Vermis & Folia

Brain Parenchyma

Corpus Callosum

Cranial Vault

Neck and Pharynx

FACE Profile & Coronal Nose/Lips Views

Maxilla, Mandible & TongueOrbits

Ear Position, Shape & Size

THORAX Aortic & Ductal Arches

3VV/3 Vessel & Trachea Views

Superior & Inferior Vena CavaLungs & Thymus

Esophagus

Diaphragm Integrity

Ribs

TOP to BOTTOM

DETAILED ANATOMY SCAN

ABDOMEN STRUCTURES

Liver-Location, Size &TextureGallbladder

Spleen

Small & Large Bowel

Renal Vessels

Adrenal Glands

Perineum, Rectum & Anus

SPINE Integrity, Alignment, Soft Tissues

Spinal Cord & Conus Medullaris

EXTREMITIES Number, Architecture & PositionHands & Feet

Digits-Number, Position, Motion

GENITALIA Gender

Endometrium & Uterus

Penile Shaft, Scrotum & Testes

COMMON CHOP CLINICAL SCENARIOS

Patients with known or suspected CHD to assess for other findings

Patients ref for possible or suspected CHD with normal CHOP Echo and detailed scan with other findings unrelated to the cardiovascular system

Patients ref for other diagnoses but found to have CHD on detailed scan and CHOP Echo

Patients with suspected complications of multiple gestations for cardiovascular analysis and treatment such as laser procedures, RFA, etc.

S L I D E : 8

Ventricular Septal Defect VSD

Truncus Arteriosus TA

Transposition of Great Arteries TGA

Tetralogy of Fallot TOF

Single Ventricle SV

Pulmonic Stenosis/Atresia PS/PA

Patent Ductus Arteriosus PDA

Interrupted Aortic Arch IAA

Hypoplastic Left Heart Syndrome HLHS

Double Outlet Right Ventricle DORV

Coarctation of the Aorta CoA

Atrioventricular Septal Defect AVSD

Atrioventricular Canal AVC

Atrial Septal Defect ASD

COMMON CHD ABBREVIATIONS

DIAGNOSIS ABBREVIATION

Ventricular Septal Defect 26

Tetralogy of Fallot 9

Atrioventricular Septal Defect 9

Atrial Septal Defect 8

Pulmonary Valvular Stenosis 7

Coarctation of the Aorta 7

Hypoplastic Left Heart Syndrome 6

D-Transposition of the Great Arteries 5

Other 23

S L I D E : 1 0

THE BALTIMORE WASHINGTON INFANT STUDY

DIAGNOSIS CHILDREN with CHD (%)

DISORDERS ASSOCIATED WITH CHD

Cardiosplenic Heterotaxy Syndromes

Chromosomal Abnormalities

Acronym Syndromes

Disorders with Unique CV Pathology

Other Syndromes and Disorders

CARDIOSPLENIC HETEROTAXY SYNDROMES

LA IsomerismPolysplenia Bilobed Lungs

ML, R or L Liver Malrotated Bowel

Absent, Small or ML GB Biliary Atresia

RA Isomerism

Asplenia Trilobed Lungs

Central Liver Malrotated Bowel

ML GB Microgastria

“TOO MUCH LEFT SIDEDNESS”

Polysplenia Left IVC

“TOO MUCH RIGHT SIDEDNESS”

Duplicated SVC

CARDIOSPLENIC HETEROTAXY SYNDROMES

Left Atrial Isomerism Right Atrial Isomerism

Dextrocardia 30-40% Dextrocardia 30-40%

Bilateral SVC 40% Bilateral SVC 50-70%

PAPVR (partial) 20-40% TAPVR 50-70%

Common Atrium ASD 80% ASD 90%

Atrioventricular Canal 20-40% AVC 85%

Single Ventricle 10% SV >50%

Conotruncal Defects 15-30% Conotruncal Defects 80%

Interrupted IVC >70%

LVOT Obstruction 40%

CHD TYPE CAN BE A TIP!

32 yo ref

at 30 wks

for cx CHD

ML Liver and Left GBDextrocardia, DORV, AVSD

SPECIFIC CHROMOSOMAL ABNORMALITIES

Chromosome Disorder CHD

T21 AVSD, VSD, TOF, etc

T18 VSD, TOF, DORV, AVSD, etc

T13 HLHS, DORV, AVSD, etc

XO Turner’s CoA, HLHS, etc

22q11 DiGeorge TA, TOF, IAA, etc

Triploidy VSD, ASD, TA, etc

UNBALANCED AV CANAL DEFECT (CAVC/AVSD)

37 yo ref

at 24 wks

for CHD

with no

other T21

markers

PolyhydramniosTethered Cord

TRISOMY 21 MAJOR MARKERS

Atrioventricular Canal (AVC or AVSD)

Duodenal Atresia

Esophageal Atresia

Ventricular Septal Defect (VSD)

Marker LR for T21(Isolated Sign)

General Pop

Incidence

Incidence in

T21

Thick NF 11-17 1-2% 40-75%

Short Femur 1-2.7 5% 24%

Short Humerus 5-7.5 5% 24%

Echogenic

Bowel

6-6.7 2% 15%

Mild RP 1.5-1.9 3% 18%

IEF/EICF 1.2-2.8 0.5-20%

ethnic

20%

Abnormal NB 2

0-80

0.5-1.2%

ethnic

10-60%

Mild VM 0.15% 1.5%

T21 MINOR MARKERS

Thickened Nuchal Fold

ClinodactylyMild UTD

EICF AND SMALL VSD

NB within normal rangeFL within normal range T21

COMMON FEATURES OF T21

ULTRASOUND FEATURES OF T18

CPC (50%) is the “hallmark”!!

Cardiac Defects (90%)

Clenched Hands (50%)

IUGR (50%) often early onset 14-24 wks

Single Umbilical Artery (50%)

Brain Anomalies (30%)

1) Posterior Fossa Anomalies

2) ACC, Ventriculomegaly

Facial Anomalies (20%)

GI Anomalies (20%)

Spina Bifida (12%)

LARGE BILATERAL CPC’S

T18

VSD

2VC

MULTIPLE CNS FINDINGS

T18 Partial ACCLarge CSP

Microtia

Clenched Hands

COMMON FEATURES OF TRISOMY 18

T18CB Hypoplasia Long Philtrum

T18

Long Bones

Macrodactyly Sacral Vertebrae

ULTRASOUND FEATURES OF T13

CNS Anomalies (70%)1) Holoprosencephaly is the “Hallmark”

Cardiac Defects (80%)

Postaxial Polydactyly (75%)

Facial Anomalies (50%)1) The face predicts the brain!!

Renal Anomalies (50%)

IUGR (50%)

SEVERE SEMILOBAR HSP

MicropthalmiaFused Thalami

T13 Rockerbottom FootEctrodactyly

COMMON FEATURES OF T13

“FACE PREDICTS THE BRAIN”

Partial ACC Hypoplastic CB Vermian Hypoplasia

GIANT OMPHALOCELE & TRUNCUS ARTERIOSUS

Pulsative UV Reversed Flow UA

DIGEORGE SYNDROME MICRODELETION 22Q11.2

Cardiac Anomalies (74%)1) Conotruncal malformations most common

Abnormal Characteristic Facies

Thymic Hypoplasia/Aplasia

Cleft Palate (69%)

Hypocalcemia (50%)

CATCH 22

DIGEORGE SYNDROME

Hypolastic LVOT Large VSD

DIGEORGE SYNDROME

FL within FL within

DISORDERS WITH UNIQUE CV PATHOLOGY

Tuberous Sclerosis

Pentalogy of Cantrell

Scimitar Syndrome

S L I D E : 3 9

TUBEROUS SCLEROSIS

TUBEROUS SCLEROSIS

Subependymal NodulesRhabdomyomas

JUST GIANT OMPHALOCELE?

Where’s the Pericardium?

PENTALOGY OF CANTRELL

Tethered Cord Loose Cord Knot Velamentous PCI

SCIMITAR SYNDROME

Large Anomalous Pulmonary Vein

SCIMITAR SYNDROME

THC 4 weeks

Right Lung<< Left Lung

ACRONYM SYNDROMES

CHARGE

VACTERL

PHACES

S L I D E : 4 6

CHARGEC=Colobomas

H=Heart Malformations

A=Choanal Atresia

R=Growth Delay IUGR

G=Abnormal Genitalia

E=Eye Anomalies

S L I D E : 4 7

CHARGE SYNDROME

Coloboma

Microtia

CHARGE SYNDROME

Adducted

Flexed

Thumbs

Undescended

Testes

VACTERL ASSOCIATION

V=Vertebral Anomalies

A=Anal Atresia

C=Cardiac Anomalies

T=Tracheoesophageal Fistula

E=Eophageal Atresia

R=Renal Abnormalities

L=Limb Defects

S L I D E : 5 0

VACTERL

Segmentation Anomalies

Plantar Flexed 5th Digit

VACTERL

Decreased Renal Length & Volume

PHACESP=Posterior Fossa Anomalies

H=Hemangiomas

A=Arterial Abnormalities

C=Cardiac Defects

E=Eye Anomalies

S=Sternal Defects

S L I D E : 5 3

PHACES SYNDROME

TOFIVH

PHACES SYNDROME

MicrotiaColoboma

OTHER SYNDROMES & DISORDERS

Carpenter Syndrome

Cornelia de Lange

Diabetic Embryopathy

Fryn’s Syndrome

Holt-Oram Syndrome

Meckel Gruber

Smith Lemli Opitz

Valproate Embryopathy

DIABETIC EMBRYOPATHY

AVSD UNBALANCED TO RT

Segmentation

AnomaliesMalaligned Iliac Bones & EB

Abnormal Ribs & Toes Talipes & RRA

CONCLUSIONSA detailed evaluation of the fetal thorax differs from the

routine 4CH and outflow tract views, including scans of

the aortic & ductal arches, 3 vessel & trachea view,

superior & inferior vena cava, lungs, thymus, esophagus,

diaphragm integrity and ribs.

Congenital heart disease is associated with many

conditions including heterotaxy, aneuploidy and various

syndromes which have structural anomalies that can be

accurately diagnosed with high resolution 2d/3d scans.

Prenatal evaluation at a tertiary center such as CHOP

can optimize diagnosis, parental counseling and the

overall management of patients. S L I D E : 6 0