Journal article
Reexamining the optimal nuchal translucency cutoff for diagnostic testing in the cell-free DNA and microarray era: results from the Victorian Perinatal Record Linkage study
L Hui, C Pynaker, L Bonacquisto, A Lindquist, A Poulton, E Kluckow, B Hutchinson, F Norris, MD Pertile, 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 Show all
American Journal of Obstetrics and Gynecology | MOSBY-ELSEVIER | Published : 2021
Abstract
Background: The American College of Obstetricians and Gynecologists and the Society for Maternal-Fetal Medicine recently recommended offering genetic counseling and diagnostic testing for enlarged nuchal translucency at ≥3.0 mm, regardless of previous negative screening with noninvasive prenatal testing. Objective: This study aimed to perform a population-based, individual record linkage study to determine the optimal definition of an enlarged nuchal translucency for the detection of atypical chromosome abnormalities. Study Design: This was a retrospective study of women resident in Victoria, Australia, undergoing combined first-trimester screening during the 24-month period from January 201..
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Awarded by Victorian Clinical Genetics Services
Funding Acknowledgements
L.H. was funded by a National Health and Medical Research Council Early Career Fellowship (1105603, 2016-2019) , a University of Melbourne Research Fellowship from the Faculty of Medicine, Dentistry and Health Sciences (2020) , and a Medical Research Future Fund Emerging Leader Fellowship (2021-2025) . J.H. was funded by a National Health and Medical Research Council Senior Research Fellowship (10121252) . The funding bodies had no role in the conduct of the research or the writing of the manuscript. R.P.D. reports a commercial relationship with Roche Diagnostics and Natera and personal fees from Philips Ultrasound, outside the submitted work. D.N. reports a commercial relationship with Roche Diagnostics and Natera, outside the sub-mitted work. The remaining authors report no conflict of interest.