Journal article

What is the real "price" of more prenatal screening and fewer diagnostic procedures? Costs and trade-offs in the genomic era

Lisa Hui, Mary Norton



Any screening approach, including with cell-free DNA, will have an inferior detection rate compared with 100% diagnostic testing with chromosomal microarrays. Cell-free DNA-based screening, however, should not be seen as a threat to informed choice or maximising the benefits of diagnostic testing. Screening methods have become so much better that more women are now comfortable relying on such screening and do not need the certainty of a diagnostic test. This has not lead to a decline in detection of fetal chromosome abnormalities-in fact, we are now seeing historically high yields from prenatal screening. There are both economic and ethical consequences of offering universal diagnostic testi..

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Awarded by National Health and Medical Research Council Early Career Fellowship

Funding Acknowledgements

LH receives salary support from the National Health and Medical Research Council Early Career Fellowship (#1105603). Discretionary funding from the Murdoch Children's Research Institute has supported the Victorian Prenatal Diagnosis data collection and reporting over the years, as has the Victorian Department of Health until 2008. MN has no funding used for this report.