Peter Lillitos, Grace Moriarty, Thomas Witter, Conal Austin, Owen Miller, Gurleen K. Sharland, John M. Simpson, Vita Zidere, and Trisha V. Vigneswaran. Long-Term Outcome Following Prenatal Diagnosis of Transposition of the Great Arteries. Pediatric Cardiology. 2026;47:1591-1601. doi:10.1007/s00246-025-03939-w.
Pubmed: https://pubmed.ncbi.nlm.nih.gov/40663135/
Take-Home Points
- This single-center study evaluated 207 fetuses prenatally diagnosed with d-transposition of the great arteries (d-TGA) between 1995 and 2022, providing one of the largest and longest follow-up series available.
- Prenatal diagnosis led to 201 live births, with only 2 intrauterine deaths and 4 pregnancy terminations, demonstrating excellent fetal survival and low termination rates.
- No patient died before balloon atrial septostomy (BAS), highlighting the potential benefit of planned delivery and immediate access to specialized cardiac care.
- The arterial switch operation (ASO) was performed in 198 of 201 live-born infants (98.5%), with 95.5% 30-day survival after surgery.
- Overall long-term survival was 92.5%, with most survivors now reaching the third decade of life.
- Cardiac reinterventions occurred in 9.2% of prenatally diagnosed patients, while neurologic and behavioral morbidity affected approximately 1 in 20 survivors, including autism spectrum disorder in 5.6%.
Commentary from Dr. Varun Aggarwal (Wilmington, DE, USA), editor-in-chief of Congenital Heart Disease Journal Watch:
Few congenital heart lesions illustrate the value of prenatal diagnosis more clearly than dextro-transposition of the great arteries (d-TGA). Unlike many congenital heart defects, infants with d-TGA often appear remarkably stable in utero yet can deteriorate rapidly after birth when successful transition to postnatal circulation depends on adequate intracardiac mixing. Consequently, prenatal diagnosis has long been viewed as one of the most important determinants of early survival.
What has remained less clear is whether that prenatal advantage extends beyond the neonatal period.
In this important study from the Evelina London Children’s Hospital, Lillitos and colleagues provide nearly three decades of experience with prenatally diagnosed d-TGA and offer one of the most comprehensive assessments to date of long-term survival, reinterventions, and neurodevelopmental outcomes after prenatal diagnosis.
The findings are reassuring from the outset.
Among 207 prenatally diagnosed fetuses, there were only two intrauterine deaths and four terminations of pregnancy. More importantly, all live-born infants survived to undergo postnatal assessment, and none died prior to balloon atrial septostomy. In an era before widespread prenatal diagnosis, precisely this interval represented one of the most vulnerable periods for infants with d-TGA.
The physiologic explanation is straightforward. Newborns with d-TGA depend on communication between parallel circulations. If atrial-level mixing is inadequate, profound hypoxemia can develop rapidly. Prenatal diagnosis facilitates delivery at specialized centers where emergency balloon atrial septostomy and definitive surgical care are immediately available. The absence of pre-septostomy mortality in this series highlights the success of that strategy.
The surgical results are equally impressive.
Nearly every infant underwent an arterial switch operation, and 30-day survival following surgery exceeded 95%. These outcomes mirror the remarkable evolution of the arterial switch procedure since its introduction and confirm that contemporary repair of d-TGA now achieves survival rates that would have seemed extraordinary several decades ago.
Perhaps the most important contribution of the study, however, is its long-term perspective.
For many congenital heart lesions, contemporary survival has become so favorable that the conversation increasingly shifts from survival to quality of life. Parents receiving a prenatal diagnosis today understandably ask not only, “Will my child survive?” but also, “What will life look like years from now?” This study provides valuable data to help answer those questions.
Long-term survival exceeded 92%, with most patients surviving well into adolescence and adulthood. Even more encouraging, the need for subsequent intervention remained relatively low. Only about 9% required reintervention during follow-up, most commonly involving the pulmonary arteries or coronary circulation. Freedom from reintervention remained excellent over time.
The coronary findings deserve particular attention.
Coronary transfer remains one of the most technically demanding components of the arterial switch operation. Although late coronary complications were uncommon, every patient requiring late coronary intervention had abnormal coronary anatomy. This observation reinforces the importance of lifelong surveillance, particularly among individuals with complex coronary patterns at the time of repair.
For ACHD clinicians, these data are highly relevant.
The earliest arterial switch survivors now populate adult congenital practices. Understanding the prevalence and timing of late coronary disease, pulmonary artery stenosis, neo-aortic valve dysfunction, and other sequelae is essential as this population continues to age.
The neurodevelopmental findings are perhaps the most thought-provoking aspect of the study.
Approximately 5% of patients experienced neurologic or developmental challenges, including learning difficulties, seizures, or autism spectrum disorder. While event numbers were small, autism was identified in 5.6% of survivors, notably higher than estimates for the general population.
Importantly, these findings should not be interpreted as evidence that prenatal diagnosis causes neurodevelopmental problems. Rather, they reinforce growing recognition that neurodevelopmental outcomes in congenital heart disease are influenced by a complex combination of fetal physiology, altered cerebral development, perioperative factors, genetics, and postnatal environmental influences.
Indeed, several studies have demonstrated that fetuses with complex congenital heart disease exhibit altered cerebral maturation before birth. The current report adds to this evolving narrative and underscores why neurodevelopmental surveillance should be considered an integral component of congenital heart care rather than an optional adjunct.
Another interesting observation was the absence of a significant difference in long-term outcomes between prenatally and postnatally diagnosed patients who reached intervention. However, the authors correctly emphasize an important caveat: the postnatal cohort only included infants who survived long enough to undergo BAS or arterial switch surgery. Infants who died before intervention could not be captured in the surgical database, potentially underestimating the true benefit of prenatal diagnosis.
This distinction is critical during prenatal counseling.
The major advantage of prenatal diagnosis may not be improved postoperative survival but rather avoidance of the vulnerable period before diagnosis and definitive treatment. Ensuring delivery in an appropriately equipped center likely remains one of the greatest benefits of fetal detection.
The study also reflects the remarkable improvement in fetal detection rates over time. By the most recent era, over 90% of patients undergoing intervention within this network had been identified prenatally. This achievement illustrates the impact of enhanced screening protocols, improved sonographer training, and systematic incorporation of outflow tract and three-vessel views into obstetric screening programs.
Ultimately, this report delivers a reassuring message for fetal cardiologists and families alike. Prenatal diagnosis of d-TGA enables coordinated delivery and postnatal management, facilitates timely intervention, and is associated with excellent long-term outcomes. Although a small minority of patients experience reinterventions or neurodevelopmental challenges, most survive well into adulthood with favorable clinical status.
Clinical Perspective
Prenatal diagnosis of d-TGA allows planned delivery in specialized centers, eliminates pre-septostomy mortality in this series, and results in excellent long-term survival following arterial switch repair. More than 90% of patients survived long term, reintervention rates remained low, and most patients reached adulthood with favorable outcomes. Neurodevelopmental surveillance remains important, as neurologic and behavioral morbidity affected approximately 5% of survivors.
