Papageorghiou, AT;
Khalil, A;
Forman, M;
Hulme, R;
Mazey, R;
Mousa, HA;
Johnstone, ED;
McKelvey, A;
Cohen, KE;
Risley, M;
et al.
Papageorghiou, AT; Khalil, A; Forman, M; Hulme, R; Mazey, R; Mousa, HA; Johnstone, ED; McKelvey, A; Cohen, KE; Risley, M; Denman, W; Kelly, B
(2016)
Clinical evaluation of the IONA test: a non-invasive prenatal screening test for trisomies 21, 18 and 13.
Ultrasound Obstet Gynecol, 47 (2).
pp. 188-193.
ISSN 1469-0705
https://doi.org/10.1002/uog.15791
SGUL Authors: Papageorghiou, Aris Khalil, Asma
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Abstract
OBJECTIVE: To evaluate the clinical accuracy of the IONA® test for aneuploidy screening. METHODS: This was a multicenter blinded study in which plasma samples from pregnant women at increased risk of trisomy 21 underwent cell-free DNA analysis utilizing the IONA test. For each sample, the IONA software generated a likelihood ratio and a maternal age-adjusted probability risk score for trisomies 21, 18 and 13. All results from the IONA test were compared against accepted diagnostic karyotyping. RESULTS: A total of 442 maternal samples were obtained, of which 437 had test results available for analysis and assessment of clinical accuracy. The IONA test had a detection rate of 100% for trisomies 21 (n = 43; 95% CI, 87.98-100%), 18 (n = 10; 95% CI, 58.72-100%) and 13 (n = 5; 95% CI, 35.88-100%) with cut-offs applied to likelihood ratio (cut-off > 1 considered high risk for trisomy) and probability risk score incorporating adjustment for maternal age (cut-off ≥ 1/150 considered high risk for trisomy). The false-positive rate (FPR) was 0% for trisomies 18 and 13 with both analysis outputs. For trisomy 21, a FPR of 0.3% was observed for the likelihood ratio, but became 0% with adjustment for maternal age. CONCLUSION: This study indicates that the IONA test is suitable for trisomy screening in a high-risk screening population. The result-interpretation feature of the IONA software should facilitate wider implementation, particularly in local laboratories, and should be a useful addition to the current screening methods for trisomies 21, 18 and 13. Copyright © 2015 ISUOG. Published by John Wiley & Sons Ltd.
Item Type: | Article | ||||||||
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Additional Information: | © 2015 The Authors. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of the International Society of Ultrasound in Obstetrics and Gynecology. This is an open access article under the terms of the Creative Commons Attribution-NonCommercial-NoDerivs License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non-commercial and no modifications or adaptations are made. | ||||||||
Keywords: | aneuploidy, diagnosis, fetal DNA, non-invasive, pregnancy, screening, sequencing, trisomy, aneuploidy, diagnosis, fetal DNA, non-invasive, pregnancy, screening, sequencing, trisomy, Obstetrics & Reproductive Medicine, 1114 Paediatrics And Reproductive Medicine | ||||||||
SGUL Research Institute / Research Centre: | Academic Structure > Institute of Medical & Biomedical Education (IMBE) Academic Structure > Institute of Medical & Biomedical Education (IMBE) > Centre for Clinical Education (INMECE ) Academic Structure > Molecular and Clinical Sciences Research Institute (MCS) Academic Structure > Molecular and Clinical Sciences Research Institute (MCS) > Vascular (INCCVA) |
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Journal or Publication Title: | Ultrasound Obstet Gynecol | ||||||||
ISSN: | 1469-0705 | ||||||||
Language: | eng | ||||||||
Dates: |
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Publisher License: | Creative Commons: Attribution-Noncommercial-No Derivative Works 4.0 | ||||||||
PubMed ID: | 26493543 | ||||||||
Web of Science ID: | WOS:000369835100010 | ||||||||
Go to PubMed abstract | |||||||||
URI: | https://openaccess.sgul.ac.uk/id/eprint/107862 | ||||||||
Publisher's version: | https://doi.org/10.1002/uog.15791 |
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