OBJECTIVE: To examine the clinical implementation of chromosome-selective sequencing of cell-free DNA (cfDNA) in maternal blood and an algorithm that relies on the lower fetal fraction contribution of the 2 fetuses in the assessment of risk for trisomies in twin pregnancies. METHODS: Risk for trisomies 21, 18 and 13 by cfDNA testing were estimated in stored plasma samples obtained at 11-13 weeks' gestation from 207 pregnancies with known outcome and prospectively in 68 twin pregnancies undergoing screening at 10-13 weeks. RESULTS: Risk scores for trisomies were provided for 192 (92.8%) of stored plasma and for 63 (92.6%) of the prospective cases. In the retrospective study, 10 of 11 trisomic pregnancies were correctly identified with no false positive results. In the prospective study, 3 trisomic pregnancies were correctly identified with no false positive results. The median of the lower fetal fraction in the prospective study of twins was 7.4% (IQR range 5.9-10.0%), which was lower than in our previous study in singletons (median 10.0%, IQR 7.8-13.0%). CONCLUSIONS: cfDNA testing in twins is feasible but the reporting rate of results is lower than in singletons due to a lower fetal fraction.
OBJECTIVE: To examine the clinical implementation of chromosome-selective sequencing of cell-free DNA (cfDNA) in maternal blood and an algorithm that relies on the lower fetal fraction contribution of the 2 fetuses in the assessment of risk for trisomies in twin pregnancies. METHODS: Risk for trisomies 21, 18 and 13 by cfDNA testing were estimated in stored plasma samples obtained at 11-13 weeks' gestation from 207 pregnancies with known outcome and prospectively in 68 twin pregnancies undergoing screening at 10-13 weeks. RESULTS: Risk scores for trisomies were provided for 192 (92.8%) of stored plasma and for 63 (92.6%) of the prospective cases. In the retrospective study, 10 of 11 trisomic pregnancies were correctly identified with no false positive results. In the prospective study, 3 trisomic pregnancies were correctly identified with no false positive results. The median of the lower fetal fraction in the prospective study of twins was 7.4% (IQR range 5.9-10.0%), which was lower than in our previous study in singletons (median 10.0%, IQR 7.8-13.0%). CONCLUSIONS: cfDNA testing in twins is feasible but the reporting rate of results is lower than in singletons due to a lower fetal fraction.
Authors: Lidia García-Pérez; Renata Linertová; Margarita Álvarez-de-la-Rosa; Juan Carlos Bayón; Iñaki Imaz-Iglesia; Jorge Ferrer-Rodríguez; Pedro Serrano-Aguilar Journal: Eur J Health Econ Date: 2017-12-16
Authors: Sebastian Grömminger; Erbil Yagmur; Sanli Erkan; Sándor Nagy; Ulrike Schöck; Joachim Bonnet; Patricia Smerdka; Mathias Ehrich; Rolf-Dieter Wegner; Wera Hofmann; Markus Stumm Journal: J Clin Med Date: 2014-06-25 Impact factor: 4.241