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Prenatal Diagnosis of Congenital Heart Disease- Where Are We?

Nithya Swaminathan, MD

Division of Pediatric Cardiology

Children’s Hospital Colorado, CO

Mishella Perez BS, RDMS, RDCS,

Division of Maternal Fetal Medicine

Scripps Health, San Diego, CA

Contributors: Heather Sun, MD- Rady Children’s, San Diego, CA

Jenna Keelan, MD- Children’s Health, Dallas, TX

Neeta Sethi, MD- Duke Children’s, Durham, NC

Lisa Zuckerwise, MD- MFM, UVA Health, VA

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Assess prenatal diagnostic rates for congenital heart disease (CHD)

Assess barriers to prenatal referrals

Propose a pathway to improve the diagnostic rates

Future scope and vision

Objectives

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Importance of Prenatal Detection of Congenital Heart Disease

Congenital heart disease (CHD) is the most common type of birth defect and the most common cause of infant mortality

Major forms of CHD can be detected at an 18-20 week anatomy scan

Effective screening of CHD prenatally should be a public health priority

Prenatal detection of CHD can have a significant impact on perinatal and postnatal outcomes

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Benefits to the Neonate

Helps with delivery planning. Decreased need for pre op mechanical ventilation, antibiotics, cardiac catheterization and emergent surgeries

Decreases delay in diagnosis

Detection of other non cardiac anomalies

Significant impact on perinatal and postnatal outcomes

Decreases neonatal mortality

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Allows family time to learn, plan and prepare

Opportunity for education and counseling, comprehensive diagnostic evaluation, decision-making, possible fetal therapy, multidisciplinary coordination of care, and specialized delivery planning

Fewer surprises in the delivery room

Benefits to the Family

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Benefits to the Medical Team

Plan for delivery and postnatal care

Gather the best team and be prepared

Determine the right place for delivery

Non cardiac anomalies- coordinate care with other teams

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Incidence of CHD

1% Baseline Risk

>3% Risk

Fetal Echo recommended when prenatal screening estimates >3% risk of CHD

1 in every 4 babies with CHD have critical CHD

1 per 100 live births

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American Society of Echocardiography Revised Fetal Echocardiogram Guidelines, July 2023

Fetal Echocardiogram Indications

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Fetal Echocardiogram Indications

Leading reason fetal cardiac evaluation is the referral for suspicion of a structural heart abnormality on obstetric US which results in a diagnosis of CHD in 40% to 50% of fetuses referred.

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The majority of congenital heart disease occurs in otherwise

LOW RISK PREGNANCIES

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Guidelines Over the Past Decade

Education of obstetrical sonographers and practitioners who perform fetal anatomic screening is vital to increase referrals and prenatal detection of critical outflow tract anomalies.

Pre-2013

4C View

Outflow Tracts

2013

Three Vessel View

Three Vessel Trachea View

AIUM/ISUOG

2019/2023

ISUOG

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Rates of Prenatal Diagnosis

Despite the fact that 99% of women giving birth to babies with serious CHD had obstetric ultrasound examinations in the second or third trimester, national rates of prenatal detection remain low

Quartermain and colleagues (2015) analyzed prospectively collected congenital heart surgery database comprised of over 31,000 patients in 91 centers in the United States from 2006-2012 and found only a 34% prenatal detection rate

Increased every year, from 26% (2006) to 42% (2012) to 58% (2023)

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Prenatal Diagnosis

Tricuspid Atresia

AV Canal Defect

Cc - TGA

TOF

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ABNORMAL

Three Vessel View

ABNORMAL

Outflow Tracts

Normal appearing

4 Chamber View

D-Transposition of the Great Arteries

Truncus Arteriosus

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Rates of Prenatal Diagnosis in the Last Decade

Davtyan et al. Prenatal Diagnosis Rate of Critical Congenital Heart Disease Remains Inadequate with Significant Racial/Ethnic and Socioeconomic Disparities and Technical Barriers. Pediatric Cardiology, 2023

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Large retrospective cohort study is based on data from 15 birth defect surveillance programmes that are members of the International Clearinghouse for Birth Defects Surveillance and Research across 12 countries in Europe, North and South America and Asia

The study included cases (LBs, stillbirths (SBs) and TOPFAs, depending on programme) with 1 of 12 types of CCHD: hypoplastic left heart syndrome (HLHS), coarctation of the aorta (COA), aortic valve stenosis (AoS), tetralogy of Fallot (TOF), d-transposition of great arteries (DTGA), double outlet right ventricle, persistent truncus arteriosus (PTA), interrupted aortic arch (IAA), pulmonary valve atresia with intact ventricular septum, tricuspid valve atresia/hypoplastic right heart (TriA/HRH), single ventricle (SV) and total anomalous pulmonary venous return (TAPVR).

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Rates of Prenatal Diagnosis

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Rates of Prenatal Diagnosis

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Barriers to Prenatal Detection of CHD

Socioeconomic Factors

Insurance, Race, Geographic Location

Access to Perinatologists/Fetal Cardiologists

Image Optimization and Education of Frontline Sonographers

(Outflow tracts and 3VT views)

Access to Trained Sonographers

Barriers

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Ultrasound Obstet Gynecol 2020; 55: 747–757�

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FHS Education Webinar Link

Screening views and image optimization:

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This highlights the continuing need for further education, training, and innovation to improve the accuracy of obstetrical scanning and to expand the availability of fetal echocardiography services nationally

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OB sonographer lectures

Five-axial view screening

On-site fetal cardiologists supervise all

fetal echocardiograms at all MFM clinics

Ongoing educational programs

for OB and MFM sonographers

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Evans et al. The Journal of Maternal-Fetal & Neonatal Medicine 2022, 35:25, 8761-8766.

45%

82%

Prenatal Diagnosis Rate

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Kaur A, Hornberger LK, Fruitman D et al (2022). J Obstet Gynaecol Can 2022;44(8):895-900

82%

66%

37%

20%

2016-2018

58% of 1405 fetuses and infants

Prenatally Diagnosed CHD

83%

66%

2008-2012

Overall Prenatal Detection Rate

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Prenatal Detection Rates Stratified by Fundamental Diagnoses and Categorized by Whether the Anomaly Is Generally Considered to Be Detectable on the 4-Chamber View

Ribeiro ER et al. Ann Thorac Surg.2026;121:153-62

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Relative percentages of congenital heart operations by prenatal diagnosis and postnatal diagnosis (unique patients), January 1, 2006–June 30, 2023. (AIUM, American Institute of Ultrasound in Medicine; CHD, congenital heart disease.)

Ribeiro ER et al. Ann Thorac Surg.2026;121:153-62

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Relative percentages of prenatal detection by whether fundamental diagnosis is visible on 4-chamber view and year (unique patients), January 1, 2006–June 30, 2023. (CHD, congenital heart disease.)

Ribeiro ER et al. Ann Thorac Surg.2026;121:153-62

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The study included 108,512 patients at 123 centers. Prenatal detection rates of CHD continuously increased during the study time frame. Prenatal detection rates varied by region (43.6%- 56.2%) and lesion type (13.1%-77.1%). Prenatal detection rates have increased for lesions not routinely detected on a 4-chamber view but visible on outflow tract views in comparison to those routinely detected on a 4-chamber view (P [ .029).

Prenatal detection rates of CHD have generally increased over time, particularly for lesions requiring outflow tract views relative to lesions routinely detectable on the 4-chamber view. Prenatal detection rates for some forms of CHD remain suboptimal and require ongoing quality improvement efforts. Further investigation of the potential impact of increasing prenatal detection rates on outcomes is warranted. Overall improved but still less than 65-70% prenatal detection rates.

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Future Pathways

Artificial Intelligence

To assist during screening OB ultrasounds for machine based learning strategies

Robust Telemedicine Programs

For outreach centers to bridge the gap of social inequities
For collaboration with OBGYN colleges

Creative Sonographer Training

Virtual Simulators

Hands-On Sessions

Incorporating fetal cardiac views on screening ultrasound
Adaptation of the 3VV and 3VT view could pave the way toward increasing prenatal diagnosis rates of CHD

Widespread Education

Including indications for fetal cardiology referral

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The Future…

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Virtual Simulators

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Ribeiro ER, Co-Vu J, Quartermain MD, Bonnell LN, Goldberg DJ, Brinkley LM, Peek GJ, Habib RH, Nelson JS, Bleiwies MS, Jacobs ML, Jacobs JP. Variation of prenatal detection of congenital heart disease in infants: updated analysis of The Society of Thoracic Surgeons Congenital Heart Surgery Database. Ann Thorac Surg. 2026;121:153–162. doi:10.1016/j.athoracsur.2025.06.049

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Thank you

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