Journal article

Population-based impact of noninvasive prenatal screening on screening and diagnostic testing for fetal aneuploidy

Lisa Hui, Briohny Hutchinson, Alice Poulton, Jane Halliday

GENETICS IN MEDICINE | NATURE PUBLISHING GROUP | Published : 2017

Abstract

PurposeTo assess the population-wide impact of noninvasive prenatal screening (NIPS) on combined first-trimester screening (CFTS), early ultrasound (11-13 weeks), and invasive prenatal diagnosis in a state with over 73,000 births per year.MethodsAnalysis of population-based data from 2000 to 2015 including (i) invasive prenatal tests, (ii) CFTS uptake, and (iii) total births. Utilization of early ultrasound was analyzed before and after NIPS (2010-2015).ResultsInvasive testing decreased significantly by 39.6% from 2012 to 2015 despite steady births. More than half of all confirmed cases of trisomy 21 were ascertained by NIPS in 2015, despite NIPS comprising only 11.7% of total indications fo..

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Grants

Awarded by National Health and Medical Research Council


Funding Acknowledgements

L.H. was funded by a National Health and Medical Research Council Early Career Fellowship (1105603), and J.H. was funded by a National Health and Medical Research Council Senior Research Fellowship (1021252). Discretionary funding from the Murdoch Childrens Research Institute has supported the data collection and reporting over the years, as did the Victorian Department of Health until 2008. The Victorian Clinical Genetics Services, Monash Medical Centre, and the private laboratories of Australian Clinical Laboratories and Melbourne Pathology form the contributors to the Victorian Prenatal Diagnosis Database. We gratefully acknowledge the following individuals within this collaboration for their cooperation and support: Leonard Bonacquisto, Lucy Gugasyan, Amanda Howden, Fiona Norris, and Mark Pertile.