![]() ![]() The review outlines the methodologies of the different reproductive approaches available to OI families and highlights their advantages and disadvantages. 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 considers reproductive options across all phases of family planning, including pre-pregnancy, fertilisation, pregnancy, and post-pregnancy. 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 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. ![]() The current review describes a selection of the latest reproductive approaches which may be suitable for prospective parents faced with a risk of OI. As a genetic disorder which undoubtedly affects quality of life, OI significantly alters the reproductive confidence of families at risk. Pathogenic variants in more than 20 different genes can lead to OI, and phenotypes can range from mild to lethal forms. ![]() The disorder is characterised by genetic and clinical heterogeneity. OI patients typically suffer from numerous fractures, skeletal deformities, shortness of stature and hearing loss. Osteogenesis Imperfecta (OI) is a rare genetic disorder involving bone fragility. ![]()
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