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Surgical history and outcomes in trisomy 13 and 18: A thirty-year review

  • Niloufar Hafezi
    Affiliations
    Department of Surgery, Division of Pediatric Surgery, Indiana University School of Medicine, 705 Riley Hospital Drive, Suite 2500, Indianapolis, IN 46202, United States
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  • Amanda R. Jensen
    Affiliations
    Department of Surgery, Division of Pediatric Surgery, Indiana University School of Medicine, 705 Riley Hospital Drive, Suite 2500, Indianapolis, IN 46202, United States
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  • Zoe M. Saenz
    Affiliations
    Department of Surgery, Division of Pediatric Surgery, Indiana University School of Medicine, 705 Riley Hospital Drive, Suite 2500, Indianapolis, IN 46202, United States
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  • Amelia T. Collings
    Affiliations
    Department of Surgery, Division of Pediatric Surgery, Indiana University School of Medicine, 705 Riley Hospital Drive, Suite 2500, Indianapolis, IN 46202, United States
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  • Cameron L. Colgate
    Affiliations
    Center for Outcomes Research in Surgery, Indiana University School of Medicine, 545 Barnhill Drive, Emerson Hall, Indianapolis, IN 46202, United States
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  • Zeynep N. Inanc Salih
    Affiliations
    Fetal Center at Riley Children's Health, Indiana University Health, 705 Riley Hospital Drive, Indianapolis, IN 46202, United States

    Department of Pediatrics, Division of Neonatal Perinatal Medicine, Indiana University School of Medicine, 705 Riley Hospital Drive, RT 4600, Indianapolis, IN 46202, United States
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  • Gabrielle C. Geddes
    Affiliations
    Fetal Center at Riley Children's Health, Indiana University Health, 705 Riley Hospital Drive, Indianapolis, IN 46202, United States

    Department of Molecular Genetics, Indiana University School of Medicine, 1002 Wishard Blvd, Indianapolis, IN 46202, United States
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  • Brian W. Gray
    Correspondence
    Corresponding author at: Pediatric Surgery, Riley Hospital for Children, Indiana University School of Medicine, 705 Riley Hospital Drive, RI 2500, Indianapolis, IN 46202, United States.
    Affiliations
    Department of Surgery, Division of Pediatric Surgery, Indiana University School of Medicine, 705 Riley Hospital Drive, Suite 2500, Indianapolis, IN 46202, United States

    Fetal Center at Riley Children's Health, Indiana University Health, 705 Riley Hospital Drive, Indianapolis, IN 46202, United States
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      Highlights

      • Trisomy 13 and 18 patients have many comorbidities and surgical needs.
      • Early mortality of these patients results in limited knowledge of their surgical outcomes.
      • We review surgical history of trisomy 13 and 18 patients over a 30-year period, including factors associated with mortality.
      • Misdiagnosis of trisomy 13 and 18 may lead to an inappropriate interpretation of mortality and other outcomes.

      Abstract

      Background

      Patients with Trisomy 13(T13) and 18(T18) have many comorbidities that may require surgical intervention. However, surgical care and outcomes are not well described, making patient selection and family counseling difficult. Here the surgical history and outcomes of T13/ T18 patients are explored.

      Methods

      A retrospective review of patients with T13 or T18 born between 1990 and 2020 and cared for at a tertiary children's hospital (Riley Hospital for Children, Indianapolis IN) was conducted, excluding those with insufficient records. Primary outcomes of interest were rates of mortality overall and after surgery. Factors that could predict mortality outcomes were also assessed.

      Results

      One-hundred-seventeen patients were included, with 65% T18 and 35% T13. More than half of patients(65%) had four or more comorbidities. Most deaths occurred by three months at median 42.0 days. Variants of classic trisomies (mosaicism, translocation, partial duplication; p = 0.001), higher birth weight(p = 0.002), and higher gestational age(p = 0.01) were associated with lower overall mortality, while cardiac(p = 0.002) disease was associated with higher mortality. Over half(n = 64) underwent surgery at median age 65 days at time of first procedure. The most common surgical procedures were general surgical. Median survival times were longer in surgical rather than nonsurgical patients(p<0.001). Variant trisomy genetics(p = 0.002) was associated with lower mortality after surgery, while general surgical comorbidities(p = 0.02), particularly tracheoesophageal fistula/esophageal atresia(p = 0.02), were associated with increased mortality after surgery.

      Conclusions

      Trisomy 13 and 18 patients have vast surgical needs. Variant trisomy was associated with lower mortality after surgery while general surgical comorbidities were associated with increased mortality after surgery. Those who survived to undergo surgery survived longer overall.

      Level of evidence

      III.

      Keywords

      Abbreviations:

      BW (birth weight), CT (classic trisomy), CI (confidence intervals), CDH (congenital diaphragmatic hernia), ECMO (extracorporeal membrane oxygenation), GA (gestational age), HR (hazard ratios), ICD (international classification of disease code), IQR (median with interquartile range), MT (misdiagnosed trisomy), OR (odds ratios), ENT (otolaryngologic or ear nose throat), TEF/EA (tracheoesophageal fistula/esophageal atresia repairs), T13 (trisomy 13), T18 (trisomy 18), VT (variant trisomy)
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