Advertisement

A Case Series of Adrenoleukodystrophy in Children Conceived Through In vitro Fertilization with an Egg Donor

  • Crystal Chang
    Affiliations
    Division of Pediatric Blood and Marrow Transplantation & Cellular Therapy Program, Department of Pediatrics, University of Minnesota Medical School, Minneapolis, MN, USA
    Search for articles by this author
  • Ashish O. Gupta
    Affiliations
    Division of Pediatric Blood and Marrow Transplantation & Cellular Therapy Program, Department of Pediatrics, University of Minnesota Medical School, Minneapolis, MN, USA

    Division of Pediatric Blood and Marrow Transplantation & Cellular Therapy Program, Department of Pediatrics, University of Minnesota Medical School, Minneapolis, MN, USA
    Search for articles by this author
  • Paul J. Orchard
    Affiliations
    Division of Pediatric Blood and Marrow Transplantation & Cellular Therapy Program, Department of Pediatrics, University of Minnesota Medical School, Minneapolis, MN, USA
    Search for articles by this author
  • David R. Nascene
    Affiliations
    Department of Radiology, University of Minnesota Medical School, Minneapolis, MN, USA
    Search for articles by this author
  • Janell Kierstein
    Affiliations
    Department of Genetics and Metabolism, Children’s Hospital Colorado, Aurora, CO, USA
    Search for articles by this author
  • Rebecca K. Tryon
    Affiliations
    Division of Pediatric Blood and Marrow Transplantation & Cellular Therapy Program, Department of Pediatrics, University of Minnesota Medical School, Minneapolis, MN, USA

    Department of Genetics, M Health Fairview, Minneapolis, MN, USA
    Search for articles by this author
  • Troy C. Lund
    Correspondence
    Correspondence: Troy Lund, MSMS, PhD, MD, FAAP Associate Professor, University of Minnesota, Pediatric Blood and Marrow Transplant Division, Metabolic Program, 20 Delaware St SE, Minneapolis, MN 55455, Fax: 612-624-3913, Phone: 612-625-4185
    Affiliations
    Division of Pediatric Blood and Marrow Transplantation & Cellular Therapy Program, Department of Pediatrics, University of Minnesota Medical School, Minneapolis, MN, USA
    Search for articles by this author
Open AccessPublished:December 23, 2022DOI:https://doi.org/10.1016/j.xfre.2022.12.005
      This paper is only available as a PDF. To read, Please Download here.

      Abstract

      Objective

      To report 3 cases of adrenoleukodystrophy (ALD) in children conceived by in-vitro fertilization (IVF) and egg donation.

      Design

      Case report.

      Patients

      Patients, ages 4-5 years old, evaluated by the University of Minnesota Leukodystrophy Center, who were diagnosed with ALD after being conceived by IVF with oocytes provided by the same donor.

      Intervention(s)

      One patient received hematopoietic stem cell transplant (HSCT) from HLA-matched donor and one patient received autologous lentiviral corrected hematopoietic cells. The disease state in one patient was unfortunately too advanced for effective treatment to be administered.

      Main Outcome Measure(s)

      Progression of disease after diagnosis or treatment was observed by cerebral MRI and monitoring the development or advancement of any cognitive, adaptive, and motor deficits.

      Results

      Patients who received a transplant for ALD successfully experienced little to no continued progression of the disease at least 6 months to 1 year after treatment.

      Conclusion

      These 3 cases of transmission of ALD through oocyte donation and IVF highlight the potential need to implement more comprehensive genetic screening of gamete donors to prevent the transfer of rare, but severe genetic diseases through IVF. Further, these cases highlight limitations in carrier screening guidelines that limit reportable variants to pathogenic and likely pathogenic variants.

      Keywords