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MFM clinicians & sonographers

Prenatal diagnosis of tetralogy of Fallot

Recognize the anatomy. Assess pulmonary blood flow. Translate the findings into a plan for birth.

  1. 01Recognize

    Use complementary views to identify the TOF pattern.

  2. 02Characterize

    Define obstruction, vessels, ductal flow, and associated findings.

  3. 03Act

    Communicate uncertainty and coordinate prenatal and neonatal care.

Take the 6-question quiz →Cases • scanning tips • management

Recognition

A normal four-chamber view can miss TOF

The outflow tracts may carry the decisive findings.

The tempting conclusion

Four chambers and balanced ventricular size do not establish normal great-artery connections.

The next action

Complete outflow and three-vessel/three-vessel-and-trachea views. Refer a suspected cardiac abnormality for specialist fetal echocardiography.

Anatomic pattern

Three prenatal findings establish the pattern

Look for a malalignment VSD, an overriding aorta, and right ventricular outflow obstruction.

Right ventricleLeft ventricleTo lungsTo bodyOverriding aortaNarrow lung pathwayVSD: hole in the wall
Conceptual anatomy only; orientation and proportions are simplified. VSD = ventricular septal defect.

Image acquisition

A reproducible sweep prevents skipped anatomy

Establish fetal orientation and situs before interpreting cardiac relationships.

  1. 01Start

    Situs, cardiac position, four chambers, AV junction.

  2. 02Sweep

    LVOT and RVOT; trace both ventricular outlets.

  3. 03Complete

    3VV/3VT, arches, ductus, and pulmonary branches.

LVOT & five-chamber view

Confirm septal malalignment in more than one plane

An apparent septal gap can be an imaging artifact.

Show the relationship

Demonstrate the subaortic VSD and aorta spanning the septum. Trace the outlet from the ventricle rather than interpreting one frozen image.

Challenge the finding

Change the angle and obtain an orthogonal view. Check grayscale before relying on color; excessive gain can blur boundaries.

RVOT assessment

Follow the RV outflow to the branch arteries

“Small pulmonary artery” is a starting observation, not a complete assessment.

InfundibulumPulmonary valveMain PARight & left PA

Define the level

Assess subvalvar narrowing, valve opening, annulus size, and main pulmonary artery continuity.

Describe the distal anatomy

Record branch caliber and confluence when visible. State when pulmonary supply or branch anatomy cannot be resolved.

Measurement tip

Use the laboratory’s validated measurement method and gestational-age reference. Record the actual dimension, Z-score, and reference model so serial studies can be compared.

3VV & 3VT

Examine size, sidedness, and relationships

Disproportion between the great vessels should trigger a focused outflow assessment.

Typical size orderPossible TOF patternPAAoSVCPAAoSVC
Simplified three-vessel caliber comparison, not an ultrasound image. PA: pulmonary artery; Ao: aorta; SVC: superior vena cava. Evaluate arch–trachea relationships separately in 3VT.

Tips & tricks

Optimize the image before interpreting the color

A technical limitation can imitate missing flow or abnormal anatomy.

Improve the grayscale image

  • Magnify the heart and reduce unnecessary depth.
  • Use a narrow sector to preserve frame rate.
  • Change maternal position or return after fetal movement.

Tune the Doppler image

  • Use a small color box over the structure of interest.
  • Adjust gain and velocity scale to the question.
  • Save cine loops; minimize unnecessary Doppler exposure.

Hemodynamics

Doppler supports anatomy but does not replace it

Velocity and aliasing depend on settings, beam alignment, and the amount of flow.

What color can add

Show flow through the outflow tract and into the overriding aorta. Confirm suspected turbulence with appropriate interrogation.

What a number cannot do

A single RVOT velocity cannot define all fetal TOF or predict newborn stability. Severe obstruction with very little flow may not produce a dramatic jet.

Ductus arteriosus

Name ductal flow by its origin and destination

Describing anatomy is clearer than labeling color as “forward” or “reverse.”

PA → descending aorta

The usual fetal ductal-flow direction. It does not, by itself, exclude evolving obstruction or later neonatal support.

Aorta → pulmonary artery

Raises concern that lung blood supply may depend on an open ductus after birth. Integrate with pulmonary valve and artery findings.

Variant • pulmonary atresia

Map the source of pulmonary blood flow

TOF with pulmonary atresia requires a pulmonary-supply assessment.

Establish the finding

Confirm no antegrade continuity/flow from RV to pulmonary artery with optimized views and Doppler.

Trace supply

Assess the ductus, central pulmonary arteries, confluence, and possible major aortopulmonary collateral arteries (MAPCAs).

Variant • absent pulmonary valve

Absent pulmonary valve adds an airway problem

A small annulus may coexist with markedly enlarged pulmonary arteries.

  1. 01Recognize

    Rudimentary valve function with marked regurgitation and to-and-fro flow.

  2. 02Assess

    Enlarged main/branch pulmonary arteries, cardiac function, and signs of compromise.

  3. 03Plan

    Consider airway compression and respiratory support needs at birth.

Differential diagnosis

Describe connections before choosing a label

Resolve anatomy across multiple views and seek expert review when the distinction remains uncertain.

PossibilityDecisive question
TOF / DORV with pulmonary stenosisHow do both great arteries connect to the ventricles? Describe the VSD and degree of aortic commitment; an override percentage alone is incomplete.
Common arterial trunkIs there one arterial root supplying systemic, pulmonary, and coronary circulations, rather than two separate outlets?
VSD without TOFIs the RV outflow unobstructed, and is the aortic relationship normal?
TOF with AVSDIs there an abnormal AV junction/common valve in addition to the outflow findings?

Associated findings

Search beyond the outflow tract

Associated anatomy can change counseling, testing, and neonatal needs.

Complete cardiac assessment

Assess the AV junction, arch sidedness, venous connections, valve function, rhythm, and ventricular function.

Detailed fetal assessment

Review extracardiac anatomy and growth. Evaluate the thymus when feasible and look for other features that inform genetic counseling.

Genetic evaluation

Offer genetic diagnosis with informed counseling

Testing informs more than the cardiac surgical plan.

  1. 01Counsel

    Discuss the phenotype, family history, patient preferences, and test limitations.

  2. 02Offer

    Diagnostic testing with chromosomal microarray for the structural anomaly.

  3. 03Individualize

    Consider additional sequencing with genetics when the phenotype or prior results support it.

Surveillance

Serial assessment should answer a management question

Ask what could change the delivery or newborn plan.

Compare over time

  • Pulmonary valve and artery growth.
  • Antegrade RVOT and ductal flow patterns.
  • Cardiac function, valve regurgitation, and hydrops when relevant.

Set the next interval

Individualize follow-up with fetal cardiology. Progressive obstruction, uncertain pulmonary supply, or functional concerns require closer reassessment.

Evidence appraisal

A risk marker is not a universal treatment threshold

Vetten et al., 2025: retrospective multicenter cohort of 253 infants with simple TOF.

What was studied

Measurements at 28–32 weeks; early intervention meant a procedure within 30 days after birth. 33 infants (13%) had early intervention.

What predicted early intervention

PV Z-score ≤ −3.5 OR abnormal ductal flow: sensitivity 79%, specificity 70%.

Delivery planning

Match the delivery site to neonatal needs

Document actual capabilities and transfer access, not only a hospital level designation.

No anticipated immediate instability

Agree on newborn assessment, timely echo, cardiology access, and escalation if the postnatal findings differ.

Suspected ductal dependence or airway risk

Coordinate delivery where stabilization, PGE1 when indicated, and the required cardiac/airway expertise are available.

Neonatal handoff

A written handoff makes prenatal diagnosis useful

The receiving team needs the anticipated physiology and a contingency plan.

  1. 01Name the risk

    Specify subtype, expected pulmonary supply, and unresolved anatomy.

  2. 02Name the action

    Plan examination, oxygenation assessment, echo, and PGE1 for suspected ductal dependence.

  3. 03Name the team

    Identify neonatal/cardiology contacts, delivery location, and transport or intervention arrangements.

After birth

Repair strategy follows anatomy and clinical course

Counsel families about the pathway without promising a single operation date.

Stable classic TOF

Elective complete repair is commonly planned in infancy; AATS consensus supports 3–6 months for asymptomatic infants.

Symptomatic or complex disease

Earlier repair or staged palliation may be appropriate. Pulmonary supply, comorbidities, size, and center expertise shape the approach.

Reporting & escalation

Report what changes care—and what remains uncertain

A useful report distinguishes a finding from its interpretation.

Minimum actionable report

  • Views obtained and technical limitations.
  • Connections, VSD, RVOT level, valve/PA measurements and Z-score model.
  • Ductal flow, arch, branch arteries, and associated findings.

Close the loop

  • State suspected subtype and confidence.
  • Flag severe obstruction, uncertain lung supply, or functional compromise promptly.
  • Record referral, follow-up, and the proposed newborn plan.

Practice • hypothetical cases

Apply the pathway to two contrasting studies

These cases illustrate reasoning; they are not patient records or stand-alone risk calculators.

Case A

Malalignment VSD and overriding aorta; antegrade pulmonary flow; PA-to-aorta ductal flow; preserved function.

Case B

Similar intracardiac pattern; very small pulmonary valve and aorta-to-PA ductal flow.

Reveal the reasoning

Both require specialist confirmation, genetic counseling, and follow-up. Case A still needs serial evaluation and a newborn plan. Case B raises greater concern for ductal-dependent pulmonary blood flow: reassess anatomy, coordinate delivery capabilities, and establish PGE1/stabilization readiness. Neither is classified solely by one number.

Clinical pearls

Six habits improve recognition and planning

Remember the actions that make the diagnosis useful.

01 · Complete the sweep

A normal four-chamber view does not clear the outflow tracts.

02 · Confirm anatomy

Reproduce findings in more than one plane.

03 · Optimize Doppler

Poor settings can mimic absent flow.

04 · Trace pulmonary supply

Name ductal flow by its source and destination.

05 · Offer genetics

Separate screening from diagnostic testing.

06 · Write the newborn plan

Specify team, location, actions, and uncertainty.

Evidence & controversies

Prediction remains imperfect

Use evidence to support judgment, and name its limits.

Established

Multiplanar anatomy, pulmonary flow assessment, genetic evaluation, and coordinated perinatal care guide practice.

Still uncertain

No single cut-off predicts every newborn’s needs. Measurement models, phenotype, and referral selection affect risk estimates.

Research priorities

Prospective external validation of prediction models, standardized measurements, and phenotype-specific genetic and long-term outcomes.

References • 1 of 2

Screening, diagnosis, and perinatal care

Guideline recommendations and expert clinical synthesis.

  1. Guideline · ISUOG 2023Carvalho JS, et al. ISUOG Practice Guidelines (updated): fetal cardiac screening. Ultrasound Obstet Gynecol. 2023;61:788–803. doi:10.1002/uog.26224.Read source Guideline · ISUOG 2023 (opens in a new tab)
  2. Guideline · ASE 2023Moon-Grady AJ, et al. Guidelines and Recommendations for Performance of the Fetal Echocardiogram: An Update from the American Society of Echocardiography. J Am Soc Echocardiogr. 2023;36:679–723. doi:10.1016/j.echo.2023.04.014.Read source Guideline · ASE 2023 (opens in a new tab)
  3. Specialist education · ISUOGChaoui R, Pilu G. Tetralogy of Fallot. ISUOG VISUOG: Abnormal outflow tracts, Fallot and variants. Accessed September 17, 2026.Read source Specialist education · ISUOG (opens in a new tab)
  4. Clinical report · Pediatrics 2022Haxel CS, et al. Care of the Fetus With Congenital Cardiovascular Disease: From Diagnosis to Delivery. Pediatrics. 2022;150(Suppl 2):e2022056415C. doi:10.1542/peds.2022-056415C.Read source Clinical report · Pediatrics 2022 (opens in a new tab)
  5. Guideline · SMFM Consult #41Society for Maternal-Fetal Medicine; Dugoff L, Norton ME, Kuller JA. The use of chromosomal microarray for prenatal diagnosis. Am J Obstet Gynecol. 2016;215:B2–B9. doi:10.1016/j.ajog.2016.07.016.Read source Guideline · SMFM Consult #41 (opens in a new tab)

References • 2 of 2

Genetics, treatment, and emerging evidence

Reviewed September 17, 2026. Interpret each source within its population and evidence type.

  1. Review · Bassett et al. 2023Bassett AS, Reuter MS, Malecki S, Silversides C, Oechslin E. Clinically Relevant Genetic Considerations for Patients With Tetralogy of Fallot. CJC Pediatr Congenit Heart Dis. 2023;2:426–439. doi:10.1016/j.cjcpc.2023.10.002.Read source Review · Bassett et al. 2023 (opens in a new tab)
  2. Observational study · Vetten et al. 2025Vetten Z, et al. Prenatal Predictors of Early Intervention in Simple Tetralogy of Fallot: A Retrospective Multi-Centre Study. Prenat Diagn. 2025;45:743–751. doi:10.1002/pd.6796.Read source Observational study · Vetten et al. 2025 (opens in a new tab)
  3. Consensus · AATS 2022Miller JR, et al. The American Association for Thoracic Surgery (AATS) 2022 Expert Consensus Document: Management of infants and neonates with tetralogy of Fallot. J Thorac Cardiovasc Surg. 2023;165:221–250. doi:10.1016/j.jtcvs.2022.07.025.Read source Consensus · AATS 2022 (opens in a new tab)
  4. Patient resource · CDCCenters for Disease Control and Prevention. Tetralogy of Fallot. Congenital Heart Defects. Accessed September 17, 2026.Read source Patient resource · CDC (opens in a new tab)

References

  1. Guideline · ISUOG 2023Carvalho JS, et al. ISUOG Practice Guidelines (updated): fetal cardiac screening. Ultrasound Obstet Gynecol. 2023;61:788–803. doi:10.1002/uog.26224.Read source Guideline · ISUOG 2023 (opens in a new tab)
  2. Guideline · ASE 2023Moon-Grady AJ, et al. Guidelines and Recommendations for Performance of the Fetal Echocardiogram: An Update from the American Society of Echocardiography. J Am Soc Echocardiogr. 2023;36:679–723. doi:10.1016/j.echo.2023.04.014.Read source Guideline · ASE 2023 (opens in a new tab)
  3. Specialist education · ISUOGChaoui R, Pilu G. Tetralogy of Fallot. ISUOG VISUOG: Abnormal outflow tracts, Fallot and variants. Accessed September 17, 2026.Read source Specialist education · ISUOG (opens in a new tab)
  4. Clinical report · Pediatrics 2022Haxel CS, et al. Care of the Fetus With Congenital Cardiovascular Disease: From Diagnosis to Delivery. Pediatrics. 2022;150(Suppl 2):e2022056415C. doi:10.1542/peds.2022-056415C.Read source Clinical report · Pediatrics 2022 (opens in a new tab)
  5. Guideline · SMFM Consult #41Society for Maternal-Fetal Medicine; Dugoff L, Norton ME, Kuller JA. The use of chromosomal microarray for prenatal diagnosis. Am J Obstet Gynecol. 2016;215:B2–B9. doi:10.1016/j.ajog.2016.07.016.Read source Guideline · SMFM Consult #41 (opens in a new tab)
  6. Review · Bassett et al. 2023Bassett AS, Reuter MS, Malecki S, Silversides C, Oechslin E. Clinically Relevant Genetic Considerations for Patients With Tetralogy of Fallot. CJC Pediatr Congenit Heart Dis. 2023;2:426–439. doi:10.1016/j.cjcpc.2023.10.002.Read source Review · Bassett et al. 2023 (opens in a new tab)
  7. Observational study · Vetten et al. 2025Vetten Z, et al. Prenatal Predictors of Early Intervention in Simple Tetralogy of Fallot: A Retrospective Multi-Centre Study. Prenat Diagn. 2025;45:743–751. doi:10.1002/pd.6796.Read source Observational study · Vetten et al. 2025 (opens in a new tab)
  8. Consensus · AATS 2022Miller JR, et al. The American Association for Thoracic Surgery (AATS) 2022 Expert Consensus Document: Management of infants and neonates with tetralogy of Fallot. J Thorac Cardiovasc Surg. 2023;165:221–250. doi:10.1016/j.jtcvs.2022.07.025.Read source Consensus · AATS 2022 (opens in a new tab)
  9. Patient resource · CDCCenters for Disease Control and Prevention. Tetralogy of Fallot. Congenital Heart Defects. Accessed September 17, 2026.Read source Patient resource · CDC (opens in a new tab)

Reviewed September 17, 2026. Original schematics are educational illustrations, not diagnostic images.