Ultrasound Examination In 1st

Trimester Congenital Heart

Disease
Irvan Adenin
Topics
• Introduction
• Fetal Heart Anatomy
• History of FEC
• Detection trisomy 21,13,18 by intergrated
• CHD in trisomy 21,13, and 18
• How to detect CHD in 1st trimester
• What CHD types can detect by transvaginal sonography
• Limitation CHD at 1st trimester
• Benefid detection CHD in 1st trimester
 INTRODUCTION
Fetal cardiac examination in the 1st trimester
• Body situs
• Four chambers
• Great vessels
Many CHDs can be detected in the first
trimester
Fetal heart can also assess of indirect markers such
as:
• Tricuspid regurgitation (TR),
• Abnormal cardiac axis,
Ultrasound examination in the first trimester
requires high-resolution images gray scale and
color Doppler and needs combined
transabdominal and transvaginal.
Fetal Heart Anatomy
 History and progression FEC in 1st trimester
• Fifteen echocardiographic views of the
heart were selected for study because of
their known general usefulness, at Fetuses
between 18 and 40 weeks of gestation
(G.R.Devore, 1982)
• Because early gestational resolution of
detail fetal heart insufficient visualize, strict
criteria were followed particular cardiac
view, these criteria in Table 1. (Lawrence A.
Dolkart, 1991)
History and progression
FEC in 1 trimester
st

• Schematic of the 4CV

• Real-time image of the four-
chamber view
• FEC view
• The long axis 4CV view (1.RV 2. LV, 3 RA,
4.LA, 5.IVS, 6.IAS, 7.tricuspid and 8.mitral
valves, and 9.foramen ovale)
• Short axis view at the level of the aortic
and pulmonic valves.
• Short axis view at the level of atrio-
ventriculo valve

(G.R.Devore, 1992)
 Four-chamber Two equally sized ventricles and atria; offset mitral and tricus- pid valves; ventricular
septum intact up to the cardiac crux
History and Five-chamber Two equally sized ventricles and atria; discrete circular aortic cross section in center of
heart
progression FEC Aortic arch Longitudinal arch view with at least one carotid, brachiocephalic or subclavian branch
clearly arising from the vessel
in 1st trimester Short axis aorta Discrete circular echo representing the aortic root visualized within the center of the heart

Short axis ventricles Isolated right and left ventricular cavities in cross section with
defined interventricular septum
Long axis left ventricle Defined continuity from interventricular septum through the
Kriteria visualisasi aortic root in longitudinal (parasagittal) section; mitral leaflet
approximated to contralateral aortic wall
jantung sesuai bagian
Inferior, superior vena Longitudinal views with vessel entrance into right atrium
jantung yang akan cavae
diperiksa. Pulmonary trunk Longitudinal view with definitive connection to right ventricle

Mitral, tricuspid valves Leaflets as visualized on four-chamber view but interventricular

septum not necessarily imaged
Aortic, pulmonary valves Moving echogenic points near root of vessel in longitudinal or
cross-sectional view
Ductus arteriosus Continuity of pulmonary trunk into descending aorta; no
emerging vessels projecting toward neck
Short axis base Short axis view at level of aortic and pulmonic outflow tracts
(pulmonary trunk draping over central aorta in cross section); tricuspid valve and right
(Lawrence A. Dolkart, 1991) atrium in view
History and
progression FEC
in 1st trimester

Persentase
struktur
jantung yang
divisualisasikan

(Lawrence A. Dolkart, 1991)

 History FEC in first
trimester
• Ten foetuses with
cardiac anomaly
diagnosis by
Transvaginal
sonography at 12-16
weeks
gestation.(Bronshtein,
1990)

Parallel fashion great artery Dextrocardia, VSD

arising from ventricle (TGA)
History FEC in first
trimester
• Prenatal diagnosis of
ventricular septal defect
and overriding aorta at
14 weeks' gestation,
using transvaginal
sonography. (Bronshtein,
1990)

Curved arrow: overriding aorta, white Arrow: VSD and overriding aorta
arrow: VSD, and black arrow: septum at
the apex
History FEC in
first trimester

Sonography and
pathologic data 10
fetuses with cardiac
abnormality
(Bronshtein, 1990)
Nowadays
Resiko terjadinya Trisomy 21, 18, dan 13 berdasarkan
ketebalan NT
Number of
pregnancies
with nuchal
translucency
(NT) thickness
above the
95th centile
Turning the pyramid detection of
fetal anomaly

• Most complications occur in the later

stages of pregnancy (unpredictable in
the early trimester)
• The first integrated examination at
11-13 can determine risk for anomaly
 Advantage of turning
the pyramid
detection
bHCG
Human
Chromosome
19q13.32
• Nicolaides screening 11–14 weeks
by combining maternal age, fetal
NT, nasal bone and maternal serum
free β-hCG and PAPP-A detection
rate 95% with an invasive testing
rate 2%. PAPP-A
Human
• Trisomi 21, 13, dan 18 Chromosome
berhubungan peningkatan: usia 9q33.1.
ibu, NT, penurunan PAPP-A. Trisomi
21: β-hCG meningkat, pada trisomi
18 dan 13: β-hCG menurun

Nicolaides, K.H. Ultrasound Obstet. Gynecol. 2003,

 Detection rate for trisomy 21 and false-positive rate of screening tests
Detection Chromosomal
by combination test in
early pregnancy

β-hCG, beta-human chorionic

gonadotropin;
DR, detection rate;
FPR, false-positive rate;
MA, maternal age;
NB, nasal bone;
NT, nuchal translucency;
PAPP-A, pregnancy-associated
plasma protein-A.

KH.Nicolaides K, Ultrasound Obstet Gynecol, 2003

Nuchal
Translucency
(NT) thickness
above the
95th centile
related
Chromosomal
abnormality
 Trisomy 21 related CHD
Most common :
• Atrioventricular septal defect
(AVSD, 29%),
• Followed by ventricular septal
defect (VSD,21.5%)
• Atrial septal defect (ASD, 19.9%).
• The most common associations
avsd + asd (10%)
• VSD + ASD (7.8%).

Benhaourech, Sanaa, MD, Drighil, 18. Stoll C, Dott B, Alembik Y, et al.. European Journal of Medical Genetics.
Abdenasser, MD, and El Hammiri 2015;58:674-68
Ayoub, MD. Cardiovasc J Afr 2016 8. Freeman SB, Bean LH, Allen EG, et al. Genetics in Medicine. 2008
 Trisomy 13 and 18
related CHD
• Among congenital
malformations,
congenital heart
defects stand out,
comprising
structural and
functional
abnormalities.
• Congenital heart
defects are
heterogeneous
requiring different
interventions.
 Technique FEC at 1st trimester
Optimization of the gray-scale cardiac examination in
the first trimester
Fetus in dorsoposterior position (NT-position)

Image magnified
Fetal thorax to occupy one-third of ultrasound image

High contrast image settings Figure: Abdominal situs (A) with stomach (asterisk) and 4CV, transverse
Narrow sector width view (B) apical view (C). LV, left ventricle; RV, right ventricle; R, right; L, Left.

Optimization of Color Doppler Cardiac Examination in

the First Trimester
Optimize the gray-scale image before activating color
Doppler
Narrow color Doppler box

Mid-velocity color Doppler range

Low color Doppler gain

Bidirectional color Doppler if available

Figure: Ultrasound examination diastolic flow from both right (RA) and
left (LA) atrium into right (RV) and left (LV) ventricle, respectively. B is
higher resolution due to transvaginal
Technique FEC at
1st trimester
• Four essential planes in
the first trimester cardiac
examination include the
plane at the abdominal
circumference level

(A) abdominal situs with the stomach (asterisk) left side, (B) 4CVview in gray scale, (C)
4CV in color Doppler in diastole (D) TVTV in color Doppler in systole LV, left ventricle; RV,
right ventricle; PA, pulmonary artery; Ao, aorta; R, right; L, Left.
Congenital Heart Disease in
First Trimester

• Congenital heart disease (CHD) most

common severe congenital
abnormality.
• First trimester pregnancy prevalence
of CHD is higher, fetuses with complex
anomalies die in utero, especially
when associated with extracardiac
malformations or early hydrops.
• Detection fetal anomaly is indication
for fetal echocardiography.
• CHD can be suspected in the first
trimester by:
• Thickened nuchal translucency (NT),
• Extracardiac malformations,
• Direct cardiac and great vessel Table: Incidence nuchal translucency thickness above the 95th centile and reversed a
anatomic abnormalities. wave in the DV for major cardiac defects
• Revered a wave Ductus Venosus (DV)
Chelemen, Nicolaides et.al Contribution of Ductus Venosus, Doppler in First-Trimester Screening for
Major Cardiac Defects, Fetal Diagn Ther 2011
 Abnormal Ultrasound Findings and Suspected Cardiac Anomalies in the First Trimester
Four-chamber view
Grey scale and color doppler
Three-vessel- trachea view in color Doppler
Abnormal cardiac axis:
1. Left-sided in TOF, Common Arterial Trunk
2. Mesocardia in TGA, DORV,
3. Dextrocardia in heterotaxy
4. Severe tricuspid insufficiency in Ebstein anomaly,
5. Single ventricle in AVSD,
6. Univentricular heart,
7. HLHS,
8. Tricuspid atresia with VSD
1. Discrepant great vessel size with forward flow in the small
vessel in TOF,
2. Coarctation of the aorta,
3. Tricuspid atresia with VSD
4. Discrepant great vessel size with reversed flow in the small
vessel in HLHS, HRHS, PA with VSD
5. Single large great vessel in CAT, PA with VSD
6. Single great vessel of normal size in TGA or DORV
7. Interrupted aortic isthmus in interrupted aortic arch
8. Aortic arch right-sided to the trachea in right- sided aortic
arch with left ductus arteriosus
Indirect Signs of Cardiac Anomalies
• Relationship
in 1st Trimester NT and CHD

• Increased Nuchal
Translucency Thickness
• Reversed A-Wave in Ductus
Venosus
• Tricuspid Regurgitation
(complex CHD)
A. Reversed flow in
• Cardiac Axis in Early Gestation the a-waves
(Better relation CHD), left B. Tricuspid
side: ToF, Truncus; regurgitation
Mesocardia: TGA, DORV; (technique?)
Dextrocardia : Heterotaxy.
 HLHS at
1 trimester
st

Figure: Hypoplastic left heart syndrome

A. Absence of a left ventricle (arrow) in the four-chamber view.
B. Color Doppler shows diastolic flow between right atrium (RA) and right
ventricle (RV) with absent left ventricular flow.
C. Three- Vessel Trachea View in color Doppler shows antegrade flow in the
Figure: Schematic hypoplastic left heart
pulmonary artery (PA) (blue arrow) and retrograde flow of aortic arch (AoA)
syndrome (HLHS):
§ Hypoplastic hypokinetic left ventricle (LV), (red arrow).
§ Dysplastic mitral valve,
§ Atretic aortic valve
§ Hypoplastic aorta (Ao)
Atrioventricular Septal
Defect in
1st Trimester
Figure: Schematic 4CV with complete
atrioventricular septal defect (AVSD).
LA, left atrium; RA, right atrium; LV,
left ventricle; RV, right ventricle.
Figure 4CV in complete atrioventricular septal defect
(AVSD) 12 weeks gestation demonstrated by:
1. the star in A and B.
2. single channel of blood on color Doppler entering the
ventricles over a common atrioventricular valve.
LV, left ventricle; RV, right ventricle.
 Tetralogy of Fallot in
1 trimester
st
Figure Schematic Tetralogy of Fallot. LA (left atrium), RA
(right atrium), LV (left ventricle), RV (right ventricle) VSD,
ventricular septal defect, PA (pulmonary artery), Ao ( aorta).
TOF may be difficult to diagnose in the first trimester, unless
with cardiac axis deviation
Figure: Tetralogy of Fallot at 14 weeks of gestation transvaginally.
A and B: Axial planes of the chest at 4CV gray scale and color
Doppler. 4CV appears normal with an axis deviation to the left (A)
and with normal filling during diastole (B). C: The five-chamber C
overriding of the dilated aorta over VSD (star). D: TVTV discrepant
vessel size with small (PA) compared dilated overriding aorta (AO).
Antegrade flow is noted in both great vessels
 Transposition Great
Artery type D (D-TGA)
in 1st trimester

• TVTV presence single great artery of normal

size, representing the superiorly located aorta
(Ao). (A)
• Oblique view of the chest (B) shows the parallel
course of the great vessels arising in
discordance with aorta from RV and pulmonary
Figure. Schematic D-TGA. great vessels parallel artery from LV
course in oblique axial view, LA, left atrium; RA,
right atrium; LV, left ventricle; RV, right ventricle;
PA, pulmonary artery; Ao, aorta.
Coaartasio Aorta
Figure A and B:
4CV in two fetuses in
13 weeks,
in 1st Trimester A: Axial 4CV
B: Apical color 4CV
discrepant ventricular
chamber size with
small (LV)

Figure A:
Color 4CV.
A: 4CV color
B: TVTV 14 weeks
small aortic arch
shows antegrade flow
distinction from HLHS
Figure. Schematic CoA: Narrowing of the where reversal flow
aortic arch, typically located at the in Aortic arch
isthmic region, between the left
subclavian artery and the ductus
arteriosus
 Keuntungan dan kekurangan
pemeriksaan 1st trimester
• Reduced invasive examinations (> 35 years)
• Possibility 1st trimester invasive testing
• Perform chorionic villi sampling in the
earlier trimester than second trimester
amniocentesis because it is safer
• Termination of the first trimester of an
abnormal pregnancy
• Reduce anxiety

Sage Journal, Univ Manchester US

Comparison of first and second trimester
ultrasound screening for fetal anomalies
• Advantages later scan in
discovering anomalies heart,
urinary tract and CNS,
• Lethal malformations were
detected in both groups, but
detection of heart malformations
needs improvement.
 Fetal Echocardiography Course
Lecture (zoom) and Hands-on

Harapan Kita Women And Children Hospital

Contac person: Endang- 081318217305
Terima Kasih