OBJECTIVES. To emphasize the important components of a detailed obstetrical scan versus a routine 2 nd or 3 rd trimester scan

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2 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 2 nd or 3 rd 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 outcome S L I D E : 2

3 OBSTETRICAL US EXAMINATIONS DIFFERENT TYPES OF OB US SCANS CODE DESCRIPTION Standard US<14 wks Standard US>14 wks Detailed Anatomy Scan Limited Scan= Quickie Follow Up Scan Umbilical Artery Doppler Middle Cerebral Artery Doppler Uterine Artery Doppler

4 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

5 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): , 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)

6 HEAD & NECK FACE THORAX DETAILED ANATOMY SCAN TOP to BOTTOM STRUCTURES 3 rd & 4 th Ventricles CB Lobes, Vermis & Folia Brain Parenchyma Corpus Callosum Cranial Vault Neck and Pharynx Profile & Coronal Nose/Lips Views Maxilla, Mandible & Tongue Orbits Ear Position, Shape & Size Aortic & Ductal Arches 3VV/3 Vessel & Trachea Views Superior & Inferior Vena Cava Lungs & Thymus Esophagus Diaphragm Integrity Ribs

7 DETAILED ANATOMY SCAN ABDOMEN SPINE EXTREMITIES GENITALIA STRUCTURES Liver-Location, Size &Texture Gallbladder Spleen Small & Large Bowel Renal Vessels Adrenal Glands Perineum, Rectum & Anus Integrity, Alignment, Soft Tissues Spinal Cord & Conus Medullaris Number, Architecture & Position Hands & Feet Digits-Number, Position, Motion Gender Endometrium & Uterus Penile Shaft, Scrotum & Testes

8 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

9 DIAGNOSIS COMMON CHD ABBREVIATIONS ABBREVIATION 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

10 THE BALTIMORE WASHINGTON INFANT STUDY DIAGNOSIS CHILDREN with CHD (%) 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 : 10

11 DISORDERS ASSOCIATED WITH CHD Cardiosplenic Heterotaxy Syndromes Chromosomal Abnormalities Acronym Syndromes Disorders with Unique CV Pathology Other Syndromes and Disorders

12 CARDIOSPLENIC HETEROTAXY SYNDROMES LA Isomerism Polysplenia ML, R or L Liver Absent, Small or ML GB RA Isomerism Asplenia Central Liver ML GB Bilobed Lungs Malrotated Bowel Biliary Atresia Trilobed Lungs Malrotated Bowel Microgastria

13 TOO MUCH LEFT SIDEDNESS Polysplenia Left IVC

14 TOO MUCH RIGHT SIDEDNESS Duplicated SVC

15 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%

16 CHD TYPE CAN BE A TIP! Dextrocardia, DORV, AVSD ML Liver and Left GB 32 yo ref at 30 wks for cx CHD

17 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

18 UNBALANCED AV CANAL DEFECT (CAVC/AVSD) Tethered Cord 37 yo ref at 24 wks for CHD with no other T21 markers Polyhydramnios

19 TRISOMY 21 MAJOR MARKERS Atrioventricular Canal (AVC or AVSD) Duodenal Atresia Esophageal Atresia Ventricular Septal Defect (VSD)

20 T21 MINOR MARKERS Marker LR for T21 (Isolated Sign) General Pop Incidence Incidence in T21 Thick NF % 40-75% Short Femur % 24% Short Humerus % 24% Echogenic Bowel % 15% Mild RP % 18% IEF/EICF % ethnic 20% Abnormal NB % ethnic 10-60% Mild VM 0.15% 1.5%

21 Thickened Nuchal Fold Mild UTD Clinodactyly

22 EICF AND SMALL VSD FL within normal range T21 NB within normal range

23 COMMON FEATURES OF T21

24 ULTRASOUND FEATURES OF T18 CPC (50%) is the hallmark!! Cardiac Defects (90%) Clenched Hands (50%) IUGR (50%) often early onset wks Single Umbilical Artery (50%) Brain Anomalies (30%) 1) Posterior Fossa Anomalies 2) ACC, Ventriculomegaly Facial Anomalies (20%) GI Anomalies (20%) Spina Bifida (12%)

25 LARGE BILATERAL CPC S VSD T18 2VC

26 MULTIPLE CNS FINDINGS Large CSP Microtia T18 Partial ACC Clenched Hands

27 COMMON FEATURES OF TRISOMY 18

28 CB Hypoplasia T18 Long Philtrum

29 T18 Macrodactyly Sacral Vertebrae Long Bones

30 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%)

31 SEVERE SEMILOBAR HSP Fused Thalami Micropthalmia

32 Ectrodactyly T13 Rockerbottom Foot

33 COMMON FEATURES OF T13

34 FACE PREDICTS THE BRAIN Partial ACC Hypoplastic CB Vermian Hypoplasia

35 GIANT OMPHALOCELE & TRUNCUS ARTERIOSUS Pulsative UV Reversed Flow UA

36 DIGEORGE SYNDROME MICRODELETION 22Q11.2 CATCH 22 Cardiac Anomalies (74%) 1) Conotruncal malformations most common Abnormal Characteristic Facies Thymic Hypoplasia/Aplasia Cleft Palate (69%) Hypocalcemia (50%)

37 DIGEORGE SYNDROME Hypolastic LVOT Large VSD

38 DIGEORGE SYNDROME FL within FL within

39 DISORDERS WITH UNIQUE CV PATHOLOGY Tuberous Sclerosis Pentalogy of Cantrell Scimitar Syndrome S L I D E : 39

40 TUBEROUS SCLEROSIS

41 TUBEROUS SCLEROSIS Rhabdomyomas Subependymal Nodules

42 JUST GIANT OMPHALOCELE? Where s the Pericardium?

43 PENTALOGY OF CANTRELL Tethered Cord Loose Cord Knot Velamentous PCI

44 SCIMITAR SYNDROME Large Anomalous Pulmonary Vein

45 SCIMITAR SYNDROME THC 4 weeks Right Lung<< Left Lung

46 ACRONYM SYNDROMES CHARGE VACTERL PHACES S L I D E : 46

47 CHARGE C=Colobomas H=Heart Malformations A=Choanal Atresia R=Growth Delay IUGR G=Abnormal Genitalia E=Eye Anomalies S L I D E : 47

48 CHARGE SYNDROME Microtia Coloboma

49 CHARGE SYNDROME Undescended Testes Adducted Flexed Thumbs

50 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 : 50

51 VACTERL Segmentation Anomalies Plantar Flexed 5 th Digit

52 VACTERL Decreased Renal Length & Volume

53 PHACES P=Posterior Fossa Anomalies H=Hemangiomas A=Arterial Abnormalities C=Cardiac Defects E=Eye Anomalies S=Sternal Defects S L I D E : 53

54 PHACES SYNDROME IVH TOF

55 PHACES SYNDROME Coloboma Microtia

56 OTHER SYNDROMES & DISORDERS Carpenter Syndrome Cornelia de Lange Diabetic Embryopathy Fryn s Syndrome Holt-Oram Syndrome Meckel Gruber Smith Lemli Opitz Valproate Embryopathy

57 DIABETIC EMBRYOPATHY AVSD UNBALANCED TO RT

58 Malaligned Iliac Bones & EB Segmentation Anomalies

59 Abnormal Ribs & Toes Talipes & RRA

60 CONCLUSIONS A 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