| Autor: |
Dar, P, Jacobson, B, MacPherson, C, Egbert, M, Malone, F, Wapner, RJ, Roman, AS, Khalil, A, Faro, R, Madankumar, R, Edwards, L, Haeri, S, Silver, R, Vohra, N, Hyett, J, Clunie, G, Demko, Z, Martin, K, Rabinowitz, M, Flood, K, Carlsson, Y, Doulaveris, G, Malone, C, Hallingstrom, M, Klugman, S, Clifton, R, Kao, C, Hakonarson, H, Norton, ME |
| Jazyk: |
angličtina |
| Rok vydání: |
2022 |
| ISSN: |
1097-6868 |
| Popis: |
BACKGROUND: Cell-free DNA (cfDNA) non-invasive prenatal screening for trisomy (T) 21, 18, and 13 has been rapidly adopted into clinical practice. However, prior studies are limited by lack of follow up genetic testing to confirm outcomes and accurately assess test performance, particularly in women at low-risk for aneuploidy. OBJECTIVE: To compare the performance of cfDNA screening for T21, T18 and T13 between women at low and high-risk for aneuploidy in a large, prospective cohort with genetic confirmation of results. STUDY DESIGN: A multicenter prospective observational study at 21 centers in 6 countries. Women who had SNP-based cfDNA screening for T21, T18 and T13 were enrolled. Genetic confirmation was obtained from prenatal or newborn DNA samples. Test performance and test failure (no-call) rates were assessed for the cohort and women with low and high prior risk for aneuploidy were compared. An updated cfDNA algorithm, blinded to pregnancy outcome, was also assessed. RESULTS: 20,194 were enrolled at median gestational age of 12.6 weeks (IQR:11.6, 13.9). Genetic outcomes were confirmed in 17,851 (88.4%): 13,043 (73.1%) low-risk and 4,808 (26.9%) high-risk for aneuploidy. Overall, 133 trisomies were diagnosed (100 T21; 18 T18; 15 T13). cfDNA screen positive rate was lower in low- vs. high-risk (0.27% vs. 2.2%, p |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
|
Full Text from ScienceDirect