Journal article

Prenatal and preimplantation genetic diagnosis for single gene disorders: A population-based study from 1977 to 2016

Alice Poulton, Sharon Lewis, Lisa Hui, Jane L Halliday

Prenatal Diagnosis | WILEY | Published : 2018

Abstract

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 χ2 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 ..

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Grants

Awarded by National Health and Medical Research Council Senior Research Fellowship


Awarded by National Health and Medical Research Council Early Career Fellowship


Funding Acknowledgements

National Health and Medical Research Council Senior Research Fellowship, Grant/Award Number: 10121252; National Health and Medical Research Council Early Career Fellowship, Grant/Award Number: 1105603