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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
Recommended