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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.

Original publication




Journal article


Ultrasound Obstet Gynecol

Publication Date





188 - 193


aneuploidy, diagnosis, fetal DNA, non-invasive, pregnancy, screening, sequencing, trisomy, Adolescent, Adult, Chromosome Disorders, Chromosomes, Human, Pair 13, Chromosomes, Human, Pair 18, Down Syndrome, Female, Genetic Testing, Gestational Age, Humans, Karyotyping, Maternal Age, Maternal Serum Screening Tests, Middle Aged, Predictive Value of Tests, Pregnancy, Pregnancy Trimester, First, Pregnancy, High-Risk, Single-Blind Method, Trisomy, Trisomy 13 Syndrome, Trisomy 18 Syndrome, Young Adult