Increasing maternal age is not a significant cause of false positive results for Monosomy X in non-invasive prenatal testing

Prenatal Diagnosis
Rhiannon SandowAndrew McLennan

Abstract

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. 52,499 NIPT samples were tested over 69 months, across 3 specialist obstetric services. Outcome data was available for 96 out of 107 cases high risk for MX. Cytogenetic outcomes were compared to clinical and demographic data to look for trends which may indicate higher likelihood of a false positive NIPT result. The likelihood of a false positive MX result significantly increased with the absence of ultrasound features suggestive of MX and with lower PAPP-A levels. Non-significant trends towards false positive results were identified with increased maternal age, increased body mass index and Caucasian ethnicity. Maternal age is not a reliable predictor of a false positive result. Assessment of ultrasound findings and placental serology in the first trimester is important for appropriate post-test counselling and should continue to be a part of screening even when NIPT is used as a first-tier ...Continue Reading

References

Oct 1, 1979·Human Genetics·T Kajii, K Ohama
Sep 12, 2002·Prenatal Diagnosis·Yuval YaronAvi Orr-Urtreger
Jul 20, 2006·The Journal of Clinical Endocrinology and Metabolism·Kirstine StochholmClaus Højbjerg Gravholt
Feb 24, 2007·Cytogenetic and Genome Research·L M RussellP A Jacobs
Feb 28, 2009·Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology·K O KaganK H Nicolaides
Jul 2, 2009·The Australian & New Zealand Journal of Obstetrics & Gynaecology·Fergus ScottAndrew McLennan
May 3, 2013·Obstetrics and Gynecology·Diana W BianchiUNKNOWN MatErnal BLood IS Source to Accurately diagnose fetal aneuploidy (MELISSA) Study Group
Jul 22, 2014·Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology·R AkolekarF D'Antonio
Sep 25, 2014·Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology·M S QuezadaK H Nicolaides
Nov 20, 2015·Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology·C B WulffUNKNOWN Danish Fetal Medicine Study Group
Jan 29, 2016·The Australian & New Zealand Journal of Obstetrics & Gynaecology·Andrew McLennanFergus Scott
May 18, 2016·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Anne Mardy, Ronald J Wapner
Jun 14, 2016·Nature Communications·Mitchell J MachielaStephen J Chanock
Apr 7, 2017·Prenatal Diagnosis·Tanja Schlaikjaer HartwigFinn Stener Jørgensen
May 19, 2017·The Journal of Maternal-fetal & Neonatal Medicine : the Official Journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians·Fergus Perry ScottAndrew Cameron McLennan
Sep 6, 2017·Fetal Diagnosis and Therapy·Louise KornmanAndrew McLennan
Jun 22, 2018·The Journal of Maternal-fetal & Neonatal Medicine : the Official Journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians·Kelly M ChenMaximilian Schmid
Jun 30, 2018·Prenatal Diagnosis·Fergus ScottAndrew McLennan
Feb 7, 2019·The Australian & New Zealand Journal of Obstetrics & Gynaecology·Hilary Bowman-SmartMartin B Delatycki
Apr 13, 2019·Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology·J BetaR Akolekar
Aug 14, 2019·Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology·A SyngelakiK H Nicolaides

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