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Reproductive options for families at risk of Osteogenesis Imperfecta: a review
BACKGROUND: Osteogenesis Imperfecta (OI) is a rare genetic disorder involving bone fragility. OI patients typically suffer from numerous fractures, skeletal deformities, shortness of stature and hearing loss. The disorder is characterised by genetic and clinical heterogeneity. Pathogenic variants in...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7251694/ https://www.ncbi.nlm.nih.gov/pubmed/32460820 http://dx.doi.org/10.1186/s13023-020-01404-w |
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author | Zhytnik, Lidiia Simm, Kadri Salumets, Andres Peters, Maire Märtson, Aare Maasalu, Katre |
author_facet | Zhytnik, Lidiia Simm, Kadri Salumets, Andres Peters, Maire Märtson, Aare Maasalu, Katre |
author_sort | Zhytnik, Lidiia |
collection | PubMed |
description | BACKGROUND: Osteogenesis Imperfecta (OI) is a rare genetic disorder involving bone fragility. OI patients typically suffer from numerous fractures, skeletal deformities, shortness of stature and hearing loss. The disorder is characterised by genetic and clinical heterogeneity. Pathogenic variants in more than 20 different genes can lead to OI, and phenotypes can range from mild to lethal forms. As a genetic disorder which undoubtedly affects quality of life, OI significantly alters the reproductive confidence of families at risk. The current review describes a selection of the latest reproductive approaches which may be suitable for prospective parents faced with a risk of OI. The aim of the review is to alleviate suffering in relation to family planning around OI, by enabling prospective parents to make informed and independent decisions. MAIN BODY: The current review provides a comprehensive overview of possible reproductive options for people with OI and for unaffected carriers of OI pathogenic genetic variants. The review considers reproductive options across all phases of family planning, including pre-pregnancy, fertilisation, pregnancy, and post-pregnancy. Special attention is given to the more modern techniques of assisted reproduction, such as preconception carrier screening, preimplantation genetic testing for monogenic diseases and non-invasive prenatal testing. The review outlines the methodologies of the different reproductive approaches available to OI families and highlights their advantages and disadvantages. These are presented as a decision tree, which takes into account the autosomal dominant and autosomal recessive nature of the OI variants, and the OI-related risks of people without OI. The complex process of decision-making around OI reproductive options is also discussed from an ethical perspective. CONCLUSION: The rapid development of molecular techniques has led to the availability of a wide variety of reproductive options for prospective parents faced with a risk of OI. However, such options may raise ethical concerns in terms of methodologies, choice management and good clinical practice in reproductive care, which are yet to be fully addressed. |
format | Online Article Text |
id | pubmed-7251694 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-72516942020-06-04 Reproductive options for families at risk of Osteogenesis Imperfecta: a review Zhytnik, Lidiia Simm, Kadri Salumets, Andres Peters, Maire Märtson, Aare Maasalu, Katre Orphanet J Rare Dis Review BACKGROUND: Osteogenesis Imperfecta (OI) is a rare genetic disorder involving bone fragility. OI patients typically suffer from numerous fractures, skeletal deformities, shortness of stature and hearing loss. The disorder is characterised by genetic and clinical heterogeneity. Pathogenic variants in more than 20 different genes can lead to OI, and phenotypes can range from mild to lethal forms. As a genetic disorder which undoubtedly affects quality of life, OI significantly alters the reproductive confidence of families at risk. The current review describes a selection of the latest reproductive approaches which may be suitable for prospective parents faced with a risk of OI. The aim of the review is to alleviate suffering in relation to family planning around OI, by enabling prospective parents to make informed and independent decisions. MAIN BODY: The current review provides a comprehensive overview of possible reproductive options for people with OI and for unaffected carriers of OI pathogenic genetic variants. The review considers reproductive options across all phases of family planning, including pre-pregnancy, fertilisation, pregnancy, and post-pregnancy. Special attention is given to the more modern techniques of assisted reproduction, such as preconception carrier screening, preimplantation genetic testing for monogenic diseases and non-invasive prenatal testing. The review outlines the methodologies of the different reproductive approaches available to OI families and highlights their advantages and disadvantages. These are presented as a decision tree, which takes into account the autosomal dominant and autosomal recessive nature of the OI variants, and the OI-related risks of people without OI. The complex process of decision-making around OI reproductive options is also discussed from an ethical perspective. CONCLUSION: The rapid development of molecular techniques has led to the availability of a wide variety of reproductive options for prospective parents faced with a risk of OI. However, such options may raise ethical concerns in terms of methodologies, choice management and good clinical practice in reproductive care, which are yet to be fully addressed. BioMed Central 2020-05-27 /pmc/articles/PMC7251694/ /pubmed/32460820 http://dx.doi.org/10.1186/s13023-020-01404-w Text en © The Author(s) 2020 Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated in a credit line to the data. |
spellingShingle | Review Zhytnik, Lidiia Simm, Kadri Salumets, Andres Peters, Maire Märtson, Aare Maasalu, Katre Reproductive options for families at risk of Osteogenesis Imperfecta: a review |
title | Reproductive options for families at risk of Osteogenesis Imperfecta: a review |
title_full | Reproductive options for families at risk of Osteogenesis Imperfecta: a review |
title_fullStr | Reproductive options for families at risk of Osteogenesis Imperfecta: a review |
title_full_unstemmed | Reproductive options for families at risk of Osteogenesis Imperfecta: a review |
title_short | Reproductive options for families at risk of Osteogenesis Imperfecta: a review |
title_sort | reproductive options for families at risk of osteogenesis imperfecta: a review |
topic | Review |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7251694/ https://www.ncbi.nlm.nih.gov/pubmed/32460820 http://dx.doi.org/10.1186/s13023-020-01404-w |
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