OVERVIEW ON PRENATAL

DETECTION OF CHD :
INDICATIONS AND TIMING OF
FOETAL ECHOCARDIOGRAPHY
Dr Putri Bt Yubbu
Pediatric Cardiologist, HSIS Serdang and
HSAAS Pediatric Lecturer
 INTRODUCTION

 Congenital heart disease (CHD)is the most common congenital

malformation
 Accounts for 40% of death from congenital anomalies

 Incidence of CHD is about 8-10 per 1000 live births.

 Every year, 4,000 – 5,000 children born with CHD in Malaysia:
 Estimated Critical CHD ~ 1250/year
 About 20–30% of critical CHD cases diagnosed late Malaysian Statistic Department 2021
Bakker, M. K. et al. (2019). British Medical Journal Open, 9(7)
  Liberman, R. F. et al. (2014). Pediatrics, 134(2),
 PRENATAL DIAGNOSIS OF CHD

• Prenatal screening with a foetal

echocardiogram > important strategy to
improve the detection of critical CHD
worldwide
• Developed country: prenatal diagnosis
improved perioperative outcomes in infants
with critical CHD and decreased morbidity and
mortality
• Low-middle-income countries: prenatal
diagnosis of CHD is limited due to
 lack of awareness and trained personnel
 lack of implementation of standard protocols in
the conduct of mid-trimester anomaly scans
 FOETAL ECHOCARDIOGRAPHY

 A detailed sonographic evaluation to identify

and characterise foetal heart anomalies before
delivery
 It is safe, highly sensitive, and specific in
screening CHD among high-risk pregnant
mothers
FOETAL ECHOCARDIOGRAPHY

4 Chamber view Outflow Tract

 FOETAL ECHOCARDIOGRAPHY

3VV 3 Vessels Trachea View

FOETAL ECHOCARDIOGRAPHY
 THE IMPORTANCE OF PRENATAL DIAGNOSIS OF
CHD
 Allows for appropriate counseling to take
place and improves their understanding of
CHD of unborn child.
 Allay parental fears, improved
psychological state, and bolster coping skill
in dealing with the birth of a child with
CHD
 Allows an appropriate strategy for delivery
with plan of action for postnatal care

Circulation 2001 ,Thorac Cardiovasc Surg 2001

 THE IMPORTANCE OF PRENATAL DIAGNOSIS OF
CHD
Transportation of patients to cardiac center
for treatment > risk of acute complication
during the journey and need a lot of resources
High incidence of aneuploidy, syndromes and
other structural anomalies > termination of
pregnancy can be offered if detected early

Fetal therapy can be offered

 FETAL INTERVENTIONS
• Fetal Cardiac Interventions have gained
acceptance in fetal medicines as their efficacy
and safety have been demonstrated
throughout the world
• Success of fetal cardiac intervention relies
mainly on the expertise of a dedicated
multidisciplinary team
 AS with evolving HLHS
HLHS with intact or restrictive IAS
PAIVS with concern for worsening right
ventricular (RV) hypoplasia Peralta et al. Fetal and Hybrid Procedures in CHD Springer 2016
Strasburger JF et al.Fetal Arrhythmia Diagnosis and Pharmacologic
Management. J Clin Pharmacol. 2022 
Veeken et al. Laser for twin-to-twin transfusion syndrome: a guide for
endoscopic surgeons. Facts Views Vis Obgyn. 2019
 FETAL THERAPY

Treatment for Fetal SVT with anti-arrhytmia,

sirolimus therapy in hemodynamically

significant cardiac Rhabdomyomas

 prevention of heart block with

hydroxychloroquine in mother with previous
history of heart block

• Laser therapy in twin-to-twin transfusion

syndrome Peralta et al. Fetal and Hybrid Procedures in CHD Springer 2016
Strasburger JF et al.Fetal Arrhythmia Diagnosis and Pharmacologic
Management. J Clin Pharmacol. 2022 
Veeken et al. Laser for twin-to-twin transfusion syndrome: a guide for
endoscopic surgeons. Facts Views Vis Obgyn. 2019
PRENATAL DIAGNOSIS OF
CHD IN MALAYSIA?
 FOETAL CARDIAC SCREENING PRACTICE SURVEY IN MALAYSIA
(FEBRUARY-AP RIL 2016)
HOSPITAL Hospital Hospital Hospital JB Hospital HOSPITAL IIUM SC,
Center Hospital Ipoh Hospital UMMC KL
KL Kota Bharu Selayang (Paed Terengganu KLANG, KUANTA N
/Hospital (FMS) Melaka FMS MFM
(MFM T) FMS FMS cardiologist) FMS SGOR FMS MFM
No of
Trained 1 0 1 2 1 1 1 2 2 8
Personnel
Fetal
Screening
15 10** 3 9 8-9 8 11 9 5 16
Experience
(No of Year)
No of CHD
Screening 1200 2486 150 500 700- 1400 150 450 500 250 3000
per Year
No of
Positive
Screening
30 (30) 20/(NA) 10(10) 36(7)* 10 (8) 13(13) 6-8 (6) 15(14) 3(0)* 50(0)*
(Suspected
CHD/confirm
ed) per Year
% of positive
screening 2.5% 0.8% 6.6% 7.2% ? 8.6% 1.7% 3% 1.2% 1.6%
CHD

•Median positive screening for CHD by OB/MFM : 3.0% compare to experienced pediatric cardiologist 8.6%
•Problems: lack of trained personnel performing fetal echo, heavy workloads, poor data compilation, senior MFM/FMS left for private
•practise**
Cardiovasc Diagn Ther 2016;6(1):44-49 - 1280 pregnant: 118 high risk, 1162 low risk. CHD 26/128 0 (only 2 in high risk group).No difference in incidence of CHD in high and low risk group
(20.3:1000) *Data not available/not referred to pediatric cardiologist/no trained paediatric cardiologist close by )
Courtesy Dr Haifa Abdul Latiff Consultant Paediatric Cardiologist,IJN
 CASE 1
• 2 hours of life Full term baby, BW: 3 kg,
delivered via SVD at other hospital
• Apgar Score 7/8
• Antenatal: GDM on diet control
• Severe respiratory distress and cyanosis
• Required high setting ventilation & high
multiple inotropic support
• Bedside echocardiography – simple d-TGA with
restrictive PFO
• Very unstable for transportation to cardiac center
• Succumbed
 CASE 2

Madam S 26 Y/O G1P0 at 28 weeks

Delivered at term via SVD with BW: 3.2 kg at Cardiac center
Apgar Score 9/10
Admitted to NICU > Balloon atrial septectomy done at 2 hours of life
DELAY IN DIAGNOSIS
CAUSE POOR
PRE-OPERATIVE
CONDITION
• Study had shown that patients who
presented with shock, severe hypoxemia
or severe acidosis had greater risk of
mortality
• Antenatal diagnosis of CHD causes
reduce cardiovascular compromise and Kaplan-Meier survival analysis of poor pre-operative
end organ dysfunction   condition(PPC) on the survival of infants with critical
CHD in Johor, Malaysia(2006-2015)

Nizam et al Paediatric Cardiolgy, May 2018

Brown KL, Heart 92:1298–1302.
Prenatal diagnosis and planned peripartum care of critical CHD is
feasible in resource-limited settings and is associated with
significantly lower costs of neonatal cardiac care.

The dual benefit of improved clinical outcomes and lower costs of

cardiac care should encourage policymakers in resource-limited
settings towards developing more prenatal cardiac services.
 Prenatal detection of CHD

Fetal
Detection of Echocardio
(Pediatric Cardiologist)
fetal CHD graphy
depends on
Suspected heart anomalies require
the skill of the more comprehensive evaluation
operator (Foeto-maternal Specialist)

Fetal Heart Screening

Ultrasonographer, Medical Officer, Family Medicine specialist,
Obstetrician
 WHO SHOULD FETAL ECHO BE OFFERED?
to each and every pregnant ladies
because CHD occurs more
commonly in otherwise low risk
pregnancy ?
Not Practicable ,
Because of the lack of skilled
personals and sophisticated &
expensive equipment

What is feasible is a high

risk screening
 INDICATION OF FETAL ECHOCARDIOGRAPHY
Maternal Indications Fetal Indications
✔ Family history of Congenital Heart Disease ✔ Abnormal obstetrical ultrasound screen

✔ Metabolic disorder (e.g. Diabetes) ✔ Increased 1st trimester nuchal translucency

✔ Exposure to prostaglandin synthetase ✔ Extracardiac abnormality

inhibitors( eg. Ibuprofen, salicylic acid,
indomethacin)

✔ Rubella Infection ✔ Chromosomal abnormality

✔ Autoimmune disease eg. SLE ✔ Arrhythmia

✔ Familial inherited disorders( eg. Noonan’s, ✔ Hydrops

Ellisvan Creveld, Marfan etc

✔ In vitro fertilization Multiple gestation with suspicion of Twin-twin

transfusion syndrome
ASE 2022 AIUM Practice Guideline J. Ultrasound Med .2013
 Maternal Diabetes And Risk Of CHD
Total Adult Population 20,722,00

Prevalence of DM in 18.3%
adults
Total Cases of DM in 3.6 million
adults
International Diabetes Federation 2019

⮚ Fivefold higher incidence of CHD in infants of diabetic mother

⮚ TGA and VSD arteries are common cardiac defects in fetuses of diabetic pregnancies
⮚ Risk factor for Heterotaxy Syndrome
⮚ Poor glycemic control in the first trimester of gestation > strongly correlated with an
N Engl J Med 1981;304:1331–1334.
increased risk of structural defects in infants of diabetic mothers Obstet Gynecol 1993;81:954–957
 INDICATION OF FETAL ECHOCARDIOGRAPHY
Maternal Indications Fetal Indications
✔ Family history of Congenital Heart Disease ✔ Abnormal obstetrical ultrasound screen

✔ Metabolic disorder (e.g. Diabetes) ✔ Increased 1st trimester nuchal translucency

✔ Exposure to prostaglandin synthetase ✔ Extracardiac abnormality

inhibitors( eg. Ibuprofen, salicylic acid,
indomethacin)

✔ Rubella Infection ✔ Chromosomal abnormality

✔ Autoimmune disease eg. SLE ✔ Arrhythmia

✔ Familial inherited disorders( eg. Noonan’s, ✔ Hydrops

Ellisvan Creveld, Marfan etc

✔ In vitro fertilization Multiple gestation with suspicion of Twin-twin

transfusion syndrome
ASE 2022 AIUM Practice Guideline J. Ultrasound Med .2013
INDICATION FOR FETAL ECHOCARDIOGRAPHY AND CHD DETECTION
RATE

Nizam, M. et al Diagnostic
Error in Echocardiography
and the Effect on Neonatal
Management: Ten-Year
Experience from a Middle-
Income Country. Congenital
Heart Disease, 15(4), 203–
216.
•N= 1,280 pregnant women( 118- high risk group and 1,162 low risk group).

•26 cases of CHDs were detected based on abnormal foetal echocardiography (20.3 per 1,000)

•2 of the 26 cases of CHD occurred in high risk group whereas the remaining 24 occurred in low

risk pregnancy
•Difference in the incidence of CHDs between the two groups (P=0.76)


advocate foetal echocardiography should be included as a part of routine antenatal

screening and all pregnant women irrespective of risk factors for CHDs.
 When foetal echo should be offered?

As early as possible…..
When termination of pregnancy
and karyotyping can be offered

As late as possible…..
when late appearing,
lesion are not missed
15 weeks fetus with Left Isomerism and AVSD
 TIMING OF FOETAL ECHOCARDIOGRAPHY
• Optimally between 18-22 weeks
 when routine mid-trimester obstetric ultrasound assessment
performed to screen for foetal abnormalities
 most serious heart defect can be detected
• Earliest four chamber view : 12-13 weeks
• Comprehensive cardiac evaluation at 15-18 weeks >>difficult, may need to
repeat
• Follow-up foetal echocardiography around 30th week of pregnancy if CHD
is identified or suspected with risk of progression
• Beyond 32-34 weeks >> the ratio of amniotic fluid to body size decreases >
limiting the acoustic window >decrease image quality

Diagnosis and treatment of Fetal Cardiac Diseases Circulation.2014

• A lack of adaptational skills when performing screening ultrasound as opposed
to the circumstantial factors such us BMI or fetal position play important role in
failure to detect CHD prenatally
• Adequate quality of the second–trimester standard anomaly scan is essential
for prenatal detection of CHD
• Trained Sonographers who perform high volume of examinations and
monitoring of quality may improve the prenatal detection rate of CHD
• A decision-analytic model was designed to compare four screening strategies to identify fetuses with
major CHD in a theoretical cohort of 4 000 000 births in the USA. The four strategies were:
(1) three views: four-chamber view (4CV) and views of the left (LVOT) and right (RVOT) ventricular
outflow tract
(2) five views: 4CV, LVOT, RVOT and longitudinal views of the ductal arch and aortic arch;
(3) five axial views: 4CV, LVOT, RVOT, three-vessel (3V) view and three-vessels-and-trachea view; and
(4) six views: 4CV, LVOT, RVOT and 3V views and longitudinal views of the ductal arch and aortic arch.
Outcomes related to neonatal mortality and neurodevelopmental disability were evaluated. The analysis was performed from a healthcare-system
perspective, with a cost-effectiveness willingness-to-pay threshold set at $100 000 per quality-adjusted life year (QALY).
Baseline analysis, one-way sensitivity analysis and Monte-Carlo simulation were performed.
• The implications of an improvement in overall newborn survival following prenatal
diagnosis could be far-reaching

Support expanded efforts to improve prenatal screening for CHD

during routine obstetric examination
 target education programs for obstetric sonographers
 updated recommendations for ultrasound examinations
 improved access to fetal echocardiograms.

• Each of these involves significant time , resources and changes in practice for
the providers
FETAL HEART
INTEREST
GROUP
•Mission
• To improve prenatal
detection of CHD in
Malaysia
• To promote the
development and
advancement in the field of
fetal cardiology diagnosis
and management
• To encourage research
activity and collaboration
in fetal cardiology
 SUMMARY
Foetal heart screening is important for early diagnosis of cardiac anomalies, especially the critical
and serious CHDs > proper management to improve outcome
Prenatal detection of CHD in this country are still very low
Adequate quality of the second–trimester standard anomaly scan is essential for prenatal
detection of CHD
Suspected heart anomalies require more comprehensive evaluation using Foetal Echocardiography
Indication for foetal echocardiography are pregnant women with maternal, foetal and familial risk
factors
Optimal time for foetal echocardiography is between 18-22 weeks when most serious heart defect
can be detected
THANK
YOU