Outcome and Associated Findings in Individuals with Pre- and Postnatal Diagnosis of Tetralogy of Fallot (TOF) and Prediction of Early Postnatal Intervention

Abstract

Purpose The aim of our retrospective evaluation was to compare the outcome of patients with prenatal and postnatal diagnosis of Tetralogy of Fallot (TOF) and to analyze prenatal echocardiographic parameters predicting intervention within 30 days postnatal.

Materials and Methods We evaluated 142 patients in our pediatric heart center and prenatal diagnosis center and prenatal practice Praenatal plus in Cologne between 01/08–06/16.

Results Within the prenatal diagnosis group, 6/74 fetuses (8.1 %) had TOF with pulmonary atresia (TOF-PA), and 6 (8.1 %) had absent pulmonary valve syndrome (TOF-APVS). 14 (18.9 %) had an abnormal karyotype including 9/14 (64.3 %) with microdeletion 22q11.2. 25 (33.8 %) had extracardiac malformation. 4 (5.4 %) had agenesis of ductus arteriosus (DA), 22 (29.7 %) had right aortic arch (RAA) and 9 (12.2 %) had major aortopulmonary collateral arteries (MAPCAs). Within the postnatal diagnosis group, no patient had TOF-PA, 4/68 (5.9 %) had TOF-APVS. 12 (17.6 %) had extracardiac malformations, 9 (13.2 %) had an abnormal karyotype including 2/9 with microdeletion 22q11.2. 10 (14.7 %) had RAA, 9 (13.2 %) had MAPCAs. There were no cases with agenesis of DA. Increasing z-score values of the left/right pulmonary artery (LPA/RPA) prenatally were associated with a lower probability for early postnatal intervention (RPA: p = 0.017; LPA: p = 0.013). Within the prenatal diagnosis group, 12 of 41 (29.3 %) live-born patients with follow-up and intention to treat needed early intervention versus 7 (10.3 %) in the postnatal diagnosis group (p = 0.02). Within the postnatal diagnosis group, there were no deaths, while 2 (4.9 %) post-intervention deaths occurred in the prenatal diagnosis group.

Conclusion There are no significant differences concerning post-intervention survival in the prenatal diagnosis group versus the postnatal diagnosis group. Complex cases may be underrepresented in the postnatal diagnosis group. Smaller RPA/LPA values prenatally seem to be associated with early postnatal intervention.

Zusammenfassung

Ziel Ziel unserer retrospektiven Auswertung war der Outcome-Vergleich von Patienten mit pränatal und postnatal diagnostizierter Fallot-Tetralogie (TOF) sowie die Auswertung fetaler Echokardiografie-Parameter im Hinblick auf Prädiktion einer Intervention innerhalb 30 Tage postnatal.

Material und Methode Ausgewertet wurden 142 Patienten, die von 01/08–06/16 in unserem Kinderherz-Zentrum, unserer Pränataldiagnostik oder in der Praxis Praenatal plus in Köln vorstellig waren.

Ergebnisse In der Pränatal-Diagnose-Gruppe waren 6 von 74 (8,1 %) mit TOF und Pulmonalatresie (TOF-PA), 6 (8,1 %) mit absent-pulmonary-valve-syndrome (TOF-APVS). 14 (18,9 %) hatten einen auffälligen Karyotyp, darunter 9/14 mit Mikrodeletion 22q11.2 (64,3 %). 25 (33,8 %) hatten extrakardiale Fehlbildungen. 4 (5,4 %) hatten eine Ductus arteriosus (DA) -Agenesie, 22 (29,7 %) einen rechten Aortenbogen (RAA), 9 (12,2 %) hatten aortopulmonale Kollateralen (MAPCAs). In der Postnatal-Diagnose-Gruppe waren keine Patienten mit TOF-PA, 4 von 68 (5,9 %) hatten TOF-APVS. 12 (17,6 %) hatten extrakardiale Fehlbildungen, 9 (13,2 %) hatten einen auffälligen Karyotyp, darunter 2/9 mit Mikrodeletion 22q11.2. 10 (14,7 %) hatten ein RAA, 9 (13,2 %) hatten MAPCAs. Es gab keine DA-Agenesien. Pränatal höhere z-Werte der linken/rechten Pulmonalarterie (LPA/RPA) waren mit einer niedrigeren Wahrscheinlichkeit für eine frühe postnatale Intervention assoziiert (RPA: p = 0,017; LPA: p = 0,013). Innerhalb der Pränatal-Diagnose-Gruppe benötigten 12 von 41 (29,3 %) Lebendgeburten mit follow-up und Intention-to-treat eine frühe Intervention versus 7 von 68 (10,3 %) innerhalb der Postnatal-Diagnose-Gruppe (p = 0,02). In der Postnatal-Diagnose-Gruppe gab es keine Todesfälle, in der Pränatal-Diagnose-Gruppe gab es 2/41 (4,9 %) Todesfälle postinterventionell.

Schlussfolgerung Es zeigten sich keine Unterschiede hinsichtlich post-interventionellem Überleben in der Pränatal-Diagnose-Gruppe versus Postnatal-Diagnose-Gruppe. Komplexe Fälle könnten in der Postnatal-Diagnose-Gruppe unterrepräsentiert sein. Pränatal kleinere RPA/LPA-Werte scheinen mit einer frühen postnatalen Intervention assoziiert zu sein.

Key words

fetal echocardiography - congenital heart disease - Tetralogy of Fallot

Publikationsverlauf

Eingereicht: 12. Juni 2018

Angenommen: 12. September 2018

Artikel online veröffentlicht:
19. November 2018

• References

• 1 Starr JP. Tetralogy of fallot: yesterday and today. World J Surg 2010; 34: 658-668
• 2 Poon LCY, Huggon IC, Zidere V. et al. Tetralogy of Fallot in the fetus in the current era. Ultrasound Obstet Gynecol 2007; 29: 625-627
• 3 Van Dongen EI, Glansdorp AG, Mildner RJ. et al. The influence of perioperative factors on outcomes in children aged less than 18 months after repair of tetralogy of Fallot. J Thorac Cardiovasc Surg 2003; 126: 703-710
• 4 Van Arsdell G, Maharaj G, Tom J. et al. What is the optimal age for repair of tetralogy of Fallot?. Circulation 2000; 102: 123-129
• 5 Hirji A, Bernasconi A, McCrindle BW. et al. Outcomes of prenatally diagnosed tetralogy of Fallot: Implications for valve-sparing repair versus transannular patch. Can J Cardiol 2010; 26: e1-e6
• 6 Hornberger LK, Sanders SP, Sahn DJ. et al. In utero pulmonary artery and aortic growth and potential for progression of pulmonary outflow tract obstruction in tetralogy of fallot. J Am Coll Cardiol 1995; 25: 739-745
• 7 Escribano D, Herraiz I, Granados MA. et al. Tetralogy of Fallot : prediction of outcome in the mid-second trimester of pregnancy. Prenat Diagn 2011; 31: 1126-1133
• 8 Kwon EN, Parness IA, Srivastava S. et al. Subpulmonary stenosis assessed in midtrimester fetuses with tetralogy of fallot: A novel method for predicting postnatal clinical outcome. Pediatr Cardiol 2013; 34: 1314-1320
• 9 Pepas L, Savis A, Jones A. et al. An echocardiographic study of tetralogy of Fallot in the fetus and infant. Cardiol Young 2003; 13: 240-247
• 10 Friedman K, Balasubramanian S, Tworetzky W. Midgestation fetal pulmonary annulus size is predictive of outcome in tetralogy of fallot. Congenit Heart Dis 2014; 9: 187-193
• 11 Quartermain MD, Glatz AC, Goldberg DJ. et al. Pulmonary outflow tract obstruction in fetuses with complex congenital heart disease: Predicting the need for neonatal intervention. Ultrasound Obstet Gynecol 2013; 41: 47-53
• 12 Carvalho JS, Allan LD, Chaoui R. et al. ISUOG Practice Guidelines (updated): sonographic screening examination of the fetal heart. Ultrasound Obstet Gynecol 2013; 41: 348-359
• 13 Schneider C, McCrindle BW, Carvalho JS. et al. Development of Z-scores for fetal cardiac dimensions from echocardiography. Ultrasound Obstet Gynecol 2005; 26: 599-605
• 14 Allan L, Sharland G. Prognosis in fetal tetralogy of Fallot. Pediatr Cardiol 1992; 13: 1-4
• 15 Wolter A, Kawecki A, Stressig R. et al. Fetal Cardiac Axis in Fetuses with Conotruncal Anomalies. Ultraschall in Med 2017; 38: 198-205
• 16 Axt-Fliedner R, Kurkevych A, Slodki M. et al. Absent pulmonary valve syndrome – diagnosis, associations, and outcome in 71 prenatally diagnosed cases. Prenat Diagn 2017; 37: 812-819
• 17 Guntheroth WG, Forster FK, Stevenson JG. Cause of normal pulmonic velocity in fetal tetralogy of Fallot. Am J Cardiol 2003; 92: 1485-1487