Journal article

Non-Invasive Prenatal Testing for Sex Chromosome Aneuploidy in Routine Clinical Practice

Louise Kornman, Ricardo Palma-Dias, Debbie Nisbet, Fergus Scott, Melody Menezes, Fabricio da Silva Costa, Andrew McLennan

FETAL DIAGNOSIS AND THERAPY | KARGER | Published : 2018

Abstract

OBJECTIVES: To assess the accuracy of non-invasive prenatal testing (NIPT) for sex chromosome aneuploidy (SCA) in routine clinical practice and to review counselling and sonographic issues arising in SCA cases. METHODS: Three specialist Australian obstetric ultrasound and prenatal diagnosis practices offering NIPT after 10 weeks' gestation participated in this study. NIPT was reported for chromosomes 21, 18, 13, X, and Y. RESULTS: NIPT screening was performed in 5,267 singleton pregnancies. The odds of being affected given a positive screening result (OAPR) was lowest for SCAs, most notably for monosomy X (20%). Fewer women underwent invasive prenatal testing when counselled regarding a high..

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