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Clinical evaluation of the IONA test: a non-invasive prenatal screening test for trisomies 21, 18 and 13.
Ultrasound Obstet Gynecol 2016; 47(2):188-93UO

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.

Authors+Show Affiliations

Fetal Medicine Unit, St George's University Foundation Hospitals NHS Trust, London, UK. Nuffield Department of Obstetrics and Gynaecology, John Radcliffe Hospital, Oxford, UK.Fetal Medicine Unit, St George's University Foundation Hospitals NHS Trust, London, UK.Premaitha Health plc, Manchester, UK.Premaitha Health plc, Manchester, UK.Premaitha Health plc, Manchester, UK.Department of Fetal and Maternal Medicine, Leicester Royal Infirmary, Leicester, UK.Tommy's Research Centre, Central Manchester Foundation Trust, Manchester, UK.Fetal Medicine Unit, Norfolk and Norwich University Hospitals Foundation Trust, Norwich, UK.Department of Fetal Medicine, Leeds General Infirmary, Leeds, UK.Premaitha Health plc, Manchester, UK.Premaitha Health plc, Manchester, UK.Nuffield Department of Obstetrics and Gynaecology, John Radcliffe Hospital, Oxford, UK.

Pub Type(s)

Journal Article
Multicenter Study
Randomized Controlled Trial
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

26493543

Citation

Papageorghiou, A T., et al. "Clinical Evaluation of the IONA Test: a Non-invasive Prenatal Screening Test for Trisomies 21, 18 and 13." Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology, vol. 47, no. 2, 2016, pp. 188-93.
Papageorghiou AT, Khalil A, Forman M, et al. Clinical evaluation of the IONA test: a non-invasive prenatal screening test for trisomies 21, 18 and 13. Ultrasound Obstet Gynecol. 2016;47(2):188-93.
Papageorghiou, A. T., Khalil, A., Forman, M., Hulme, R., Mazey, R., Mousa, H. A., ... Kelly, B. (2016). Clinical evaluation of the IONA test: a non-invasive prenatal screening test for trisomies 21, 18 and 13. Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology, 47(2), pp. 188-93. doi:10.1002/uog.15791.
Papageorghiou AT, et al. Clinical Evaluation of the IONA Test: a Non-invasive Prenatal Screening Test for Trisomies 21, 18 and 13. Ultrasound Obstet Gynecol. 2016;47(2):188-93. PubMed PMID: 26493543.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Clinical evaluation of the IONA test: a non-invasive prenatal screening test for trisomies 21, 18 and 13. AU - Papageorghiou,A T, AU - Khalil,A, AU - Forman,M, AU - Hulme,R, AU - Mazey,R, AU - Mousa,H A, AU - Johnstone,E D, AU - McKelvey,A, AU - Cohen,K E, AU - Risley,M, AU - Denman,W, AU - Kelly,B, Y1 - 2015/12/28/ PY - 2015/05/22/received PY - 2015/10/08/revised PY - 2015/10/13/accepted PY - 2015/10/24/entrez PY - 2015/10/24/pubmed PY - 2016/11/1/medline KW - aneuploidy KW - diagnosis KW - fetal DNA KW - non-invasive KW - pregnancy KW - screening KW - sequencing KW - trisomy SP - 188 EP - 93 JF - Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology JO - Ultrasound Obstet Gynecol VL - 47 IS - 2 N2 - 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. SN - 1469-0705 UR - https://www.unboundmedicine.com/medline/citation/26493543/Clinical_evaluation_of_the_IONA_test:_a_non_invasive_prenatal_screening_test_for_trisomies_21_18_and_13_ L2 - https://doi.org/10.1002/uog.15791 DB - PRIME DP - Unbound Medicine ER -