State-wide utilization and performance of traditional and cell-free DNA-based prenatal testing pathways: the Victorian Perinatal Record Linkage (PeRL) study

A Lindquist; L Hui; A Poulton; E Kluckow; B Hutchinson; MD Pertile; L Bonacquisto; L Gugasyan; A Kulkarni; J Harraway; A Howden; R McCoy; F Da Silva Costa; M Menezes; R Palma-Dias; D Nisbet; N Martin; M Bethune; Z Poulakis; J Halliday

Journal article

State-wide utilization and performance of traditional and cell-free DNA-based prenatal testing pathways: the Victorian Perinatal Record Linkage (PeRL) study

A Lindquist, L Hui, A Poulton, E Kluckow, B Hutchinson, MD Pertile, L Bonacquisto, L Gugasyan, A Kulkarni, J Harraway, A Howden, R McCoy, F Da Silva Costa, M Menezes, R Palma-Dias, D Nisbet, N Martin, M Bethune, Z Poulakis, J Halliday

Ultrasound in Obstetrics and Gynecology | WILEY | Published : 2020

DOI: 10.1002/uog.21899

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Abstract

Objectives: To perform individual record linkage of women undergoing screening with cell-free DNA (cfDNA), combined first-trimester screening (CFTS), second-trimester serum screening (STSS), and/or prenatal and postnatal cytogenetic testing with the aim to (1) obtain population-based estimates of utilization of prenatal screening and invasive diagnosis, (2) analyze the performance of different prenatal screening strategies, and (3) report the residual risk of any major chromosomal abnormality following a low-risk aneuploidy screening result. Methods: This was a retrospective study of women residing in the state of Victoria, Australia, who underwent prenatal screening or invasive prenatal dia..

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University of Melbourne Researchers

Anthea Lindquist Author

Lisa Hui Author

Melody Menezes Author

Ricardo Palma-Dias Author

Related Projects (1)

TRANSLATING ADVANCES IN CELL-FREE FETAL NUCLEIC ACIDS INTO BETTER PERINATAL CARE

My overall aim is to translate advances in biotechnology into better care for pregnant women. My first aim is to study brain development by ..

Grants

Awarded by Victorian Clinical Genetics Services

Funding Acknowledgements

L.H. is funded by aNationalHealth and Medical Research Council Early Career Fellowship (1105603) and J.H. was funded by a National Health and Medical Research Council Senior Research Fellowship (10121252). The funding body had no role in the conduct of the research or the writing of the manuscript.