Increasing maternal age is not a significant cause of false-positive results for monosomy X in non-invasive prenatal testing.,Prenatal Diagnosis

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Increasing maternal age is not a significant cause of false-positive results for monosomy X in non-invasive prenatal testing.
Prenatal Diagnosis ( IF 2.7 ) Pub Date : 2020-07-16 , DOI: 10.1002/pd.5790
Rhiannon Sandow _{1,

2} , Fergus P Scott _{1,

3} , Philip J Schluter _{4,

5} , Daniel L Rolnik ₆ , Melody Menezes _{7,

8} , Deborah Nisbet _{9,

10} , Andrew C McLennan _{1,

11}

Affiliation

Sydney Ultrasound for Women, Monash IVF Group, Sydney, New South Wales, Australia.
Department of Cancer Genetics, Royal Prince Alfred Hospital, Camperdown, New South Wales, Australia.
Faculty of Medicine, University of New South Wales, Randwick, New South Wales, Australia.
School of Health Sciences, University of Canterbury - Te Whare Wānanga o Waitaha, Christchurch, New Zealand.
School of Clinical Medicine, Primary Care Clinical Unit, The University of Queensland, Brisbane, Queensland, Australia.
Department of Obstetrics and Gynaecology, Monash University, Melbourne, Victoria, Australia.
Monash Ultrasound for Women, Monash IVF Group, Melbourne, Victoria, Australia.
Department of Paediatrics, The University of Melbourne, Melbourne, Victoria, Australia.
Department of Ultrasound Services, The Royal Women's Hospital, Parkville, Victoria, Australia.
Women's Ultrasound Melbourne, East Melbourne, Victoria, Australia.
Discipline of Obstetrics, Gynaecology and Neonatology, The University of Sydney, Sydney, New South Wales, Australia.

The accuracy of cell‐free DNA aneuploidy screening varies by the chromosome assessed. The positive predictive value is consistently low for monosomy X (MX), at less than 30%. This study aims to investigate maternal age and other possible predictors of false‐positive MX screening results in order to guide pre‐test and post‐test counselling.

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