التفاصيل البيبلوغرافية
| العنوان: |
Clinical evaluation of the IONA test: a non-invasive prenatal screening test for trisomies 21, 18 and 13 |
| المؤلفون: |
Matthew Forman, Michael D. Risley, Kelly E Cohen, Rosalyn Mazey, Alastair McKelvey, Edward D. Johnstone, Asma Khalil, Rachel Hulme, William Denman, Brenda Kelly, Hatem A Mousa, Aris T. Papageorghiou |
| المصدر: |
Ultrasound in Obstetrics & Gynecology |
| سنة النشر: |
2015 |
| مصطلحات موضوعية: |
0301 basic medicine, Trisomy 13 Syndrome, diagnosis, Pregnancy, High-Risk, Aneuploidy, Chromosome Disorders, Trisomy, 0302 clinical medicine, Pregnancy, Medicine, Single-Blind Method, education.field_of_study, 030219 obstetrics & reproductive medicine, Framingham Risk Score, Radiological and Ultrasound Technology, Maternal Serum Screening Tests, Obstetrics and Gynecology, Gestational age, General Medicine, sequencing, Middle Aged, Original Papers, Predictive value of tests, Female, non‐invasive, Maternal Age, Adult, Down syndrome, medicine.medical_specialty, Adolescent, Population, fetal DNA, Gestational Age, 03 medical and health sciences, Young Adult, Predictive Value of Tests, Humans, Radiology, Nuclear Medicine and imaging, Genetic Testing, aneuploidy, education, Gynecology, Original Paper, Chromosomes, Human, Pair 13, business.industry, screening, medicine.disease, Pregnancy Trimester, First, 030104 developmental biology, Reproductive Medicine, Karyotyping, Down Syndrome, business, Chromosomes, Human, Pair 18, Trisomy 18 Syndrome |
| الوصف: |
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. |
| تدمد: |
1469-0705 |
| URL الوصول: |
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7aaea4cc2bac73de7cb32f05e444fc99
https://pubmed.ncbi.nlm.nih.gov/26493543 |
| حقوق: |
OPEN |
| رقم الأكسشن: |
edsair.doi.dedup.....7aaea4cc2bac73de7cb32f05e444fc99 |
| قاعدة البيانات: |
OpenAIRE |
