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Prenatal and preimplantation genetic diagnosis for single gene disorders: A population‐based study from 1977 to 2016
Author(s) -
Poulton Alice,
Lewis Sharon,
Hui Lisa,
Halliday Jane L.
Publication year - 2018
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.5352
Subject(s) - population , prenatal diagnosis , medicine , genetic testing , genetics , pediatrics , biology , pregnancy , fetus , environmental health
Objective To examine the statewide utilisation of prenatal diagnosis (PNDx) and preimplantation genetic diagnosis (PGT‐M) for single gene disorders. Methods Population‐based study of all women utilising PNDx in the Australian state of Victoria from 1977 to 2016. Single gene disorders were categorised using a systematic approach that aimed to reflect aspects of the PNDx decision‐making process. Data on PGT‐M for single gene disorders from 2005 to 2016 were similarly examined for comparison. Statistical significance testing was performed with χ 2 test. Results Following an initial uptake period, annual PNDx rates for single gene disorders stabilised between 1.3 and 2.2 per 1000 births after the year 2000. The majority of PNDx (72%) was performed for disorders that primarily impair physical ability, while PNDx for adult onset conditions was rare (3%). PGT‐M for single gene disorders has seen rapid growth since its introduction, and annual numbers now equal that of PNDx. In contrast to PNDx, one quarter of PGT‐M tests were performed for adult onset conditions. Conclusions Our population‐wide analysis has demonstrated a steady demand for PNDx for single gene disorders over the past decade, in contrast to the rapidly increasing utilisation of PGT‐M. PGT‐M appears to be the preferred testing modality for adult onset disorders.