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.

Lisa Hui; Cecilia Pynaker; Leonard Bonacquisto; Anthea Lindquist; Alice Poulton; Eliza Kluckow; Briohny Hutchinson; Fiona Norris; Mark D Pertile; Lucy Gugasyan; Abhijit Kulkarni; James Harraway; Amanda Howden; Richard McCoy; Fabricio da Silva Costa; Melody Menezes; Ricardo Palma-Dias; Debbie Nisbet; Nicole Martin; Michael Bethune; Zeffie Poulakis; Jane Halliday

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.

Lisa Hui, Cecilia Pynaker, Leonard Bonacquisto, Anthea Lindquist, Alice Poulton, Eliza Kluckow, Briohny Hutchinson, Fiona Norris, Mark D Pertile, Lucy Gugasyan, Abhijit Kulkarni, James Harraway, Amanda Howden, Richard McCoy, Fabricio da Silva Costa, Melody Menezes, Ricardo Palma-Dias, Debbie Nisbet, Nicole Martin, Michael Bethune Show all

Am J Obstet Gynecol | Elsevier BV | Published : 2021

DOI: 10.1016/j.ajog.2021.03.050

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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