Association of right aortic arch and agenesis of ductus arteriosus in prenatal tetralogy of Fallot spectrum and its clinical implications.

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  • Additional Information
    • Source:
      Publisher: Wiley Country of Publication: England NLM ID: 8106540 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-0223 (Electronic) Linking ISSN: 01973851 NLM ISO Abbreviation: Prenat Diagn Subsets: MEDLINE
    • Publication Information:
      Original Publication: Chichester, [Sussex]; New York : Wiley, c1981-
    • Subject Terms:
      Tetralogy of Fallot*/diagnostic imaging ; Tetralogy of Fallot*/epidemiology ; Tetralogy of Fallot*/genetics ; Aorta, Thoracic*/abnormalities ; Aorta, Thoracic*/diagnostic imaging ; Ultrasonography, Prenatal* ; Ductus Arteriosus*/abnormalities ; Ductus Arteriosus*/diagnostic imaging; Humans ; Female ; Retrospective Studies ; Pregnancy ; Adult ; Pulmonary Atresia/diagnostic imaging ; Pulmonary Atresia/diagnosis ; Infant, Newborn ; Abnormalities, Multiple/epidemiology ; Abnormalities, Multiple/diagnostic imaging
    • Abstract:
      Objective: In our center, we observed an increased frequency of right aortic arch (RAA) with an agenesis of the ductus arteriosus (ADA) in prenatally diagnosed tetralogy of Fallot (ToF) and its variations. This study aimed to determine whether there is an association of RAA and ADA in fetuses with ToF. Distribution of genetic anomalies and impact on postnatal outcome were further evaluated.
      Method: Single-center retrospective observational study including pregnancies with prenatal diagnosis of ToF from 2010 to 2023. All cases were subdivided into ToF with pulmonary stenosis (PS) and pulmonary atresia (PA). Clinical and echocardiographic databases were reviewed for pregnancy outcome, genetic anomalies, and postnatal course.
      Results: The cohort included 169 cases, 124 (73.4%) with ToF/PS and 45(26.6%) with ToF/PA. Agenesis of the ductus arteriosus was significantly associated with RAA in both subtypes of ToF (p = 0.001) compared to left aortic arch and found in 82.5% (33/40) versus 10.7% (9/84) of fetuses with ToF/PS and in 57.1% (8/14) versus 12.9% (4/31) of fetuses with ToF/PA. In both ToF/PS and ToF/PA, RAA/ADA versus RAA/patent DA revealed a significantly higher risk for the presence of genetic abnormalities, especially microdeletion 22q11.2, major aorto-pulmonary collateral arteries and a shorter time to complete surgical repair.
      Conclusion: We demonstrated a significantly increased frequency of RAA/ADA in patients with prenatally diagnosed ToF. Although this association revealed no significant impact on overall survival, the prenatal detection of RAA/ADA has implications for counseling, genetic evaluation and postnatal management.
      (© 2024 The Author(s). Prenatal Diagnosis published by John Wiley & Sons Ltd.)
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    • Publication Date:
      Date Created: 20240527 Date Completed: 20240616 Latest Revision: 20240912
    • Publication Date:
      20250114
    • Accession Number:
      10.1002/pd.6611
    • Accession Number:
      38797960