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A case series of adrenoleukodystrophy in children conceived through in vitro fertilization with an egg donor

OBJECTIVE: To report 3 cases of adrenoleukodystrophy (ALD) in children conceived by in vitro fertilization (IVF) and egg donation. DESIGN: A case report. PATIENT(S): Patients aged 4–5 years old, evaluated by the University of Minnesota Leukodystrophy Center, who were diagnosed with ALD after being c...

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Autores principales: Chang, Crystal, Gupta, Ashish O., Orchard, Paul J., Nascene, David R., Kierstein, Janell, Tryon, Rebecca K., Lund, Troy C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10028476/
https://www.ncbi.nlm.nih.gov/pubmed/36959964
http://dx.doi.org/10.1016/j.xfre.2022.12.005
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author Chang, Crystal
Gupta, Ashish O.
Orchard, Paul J.
Nascene, David R.
Kierstein, Janell
Tryon, Rebecca K.
Lund, Troy C.
author_facet Chang, Crystal
Gupta, Ashish O.
Orchard, Paul J.
Nascene, David R.
Kierstein, Janell
Tryon, Rebecca K.
Lund, Troy C.
author_sort Chang, Crystal
collection PubMed
description OBJECTIVE: To report 3 cases of adrenoleukodystrophy (ALD) in children conceived by in vitro fertilization (IVF) and egg donation. DESIGN: A case report. PATIENT(S): Patients aged 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 a hematopoietic stem cell transplant from a human leukocyte antigen-matched donor, and 1 patient received autologous lentiviral corrected hematopoietic cells. The disease state in 1 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 magnetic resonance imaging and monitoring the development or advancement of any cognitive, adaptive, and motor deficits. RESULT(S): Patients who received a transplant for ALD successfully experienced little to no disease progression at least 6 months to 1 year after treatment. CONCLUSION(S): 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.
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spelling pubmed-100284762023-03-22 A case series of adrenoleukodystrophy in children conceived through in vitro fertilization with an egg donor Chang, Crystal Gupta, Ashish O. Orchard, Paul J. Nascene, David R. Kierstein, Janell Tryon, Rebecca K. Lund, Troy C. F S Rep Original Article OBJECTIVE: To report 3 cases of adrenoleukodystrophy (ALD) in children conceived by in vitro fertilization (IVF) and egg donation. DESIGN: A case report. PATIENT(S): Patients aged 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 a hematopoietic stem cell transplant from a human leukocyte antigen-matched donor, and 1 patient received autologous lentiviral corrected hematopoietic cells. The disease state in 1 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 magnetic resonance imaging and monitoring the development or advancement of any cognitive, adaptive, and motor deficits. RESULT(S): Patients who received a transplant for ALD successfully experienced little to no disease progression at least 6 months to 1 year after treatment. CONCLUSION(S): 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. Elsevier 2022-12-23 /pmc/articles/PMC10028476/ /pubmed/36959964 http://dx.doi.org/10.1016/j.xfre.2022.12.005 Text en © 2022 The Author(s) https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Original Article
Chang, Crystal
Gupta, Ashish O.
Orchard, Paul J.
Nascene, David R.
Kierstein, Janell
Tryon, Rebecca K.
Lund, Troy C.
A case series of adrenoleukodystrophy in children conceived through in vitro fertilization with an egg donor
title A case series of adrenoleukodystrophy in children conceived through in vitro fertilization with an egg donor
title_full A case series of adrenoleukodystrophy in children conceived through in vitro fertilization with an egg donor
title_fullStr A case series of adrenoleukodystrophy in children conceived through in vitro fertilization with an egg donor
title_full_unstemmed A case series of adrenoleukodystrophy in children conceived through in vitro fertilization with an egg donor
title_short A case series of adrenoleukodystrophy in children conceived through in vitro fertilization with an egg donor
title_sort case series of adrenoleukodystrophy in children conceived through in vitro fertilization with an egg donor
topic Original Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10028476/
https://www.ncbi.nlm.nih.gov/pubmed/36959964
http://dx.doi.org/10.1016/j.xfre.2022.12.005
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