Performance and Diagnostic Value of Genome-Wide Noninvasive Prenatal Testing in Multiple Gestations.

OBJECTIVE: To evaluate the accuracy and diagnostic value of genome-wide noninvasive prenatal testing (NIPT) for the detection of fetal aneuploidies in multiple gestations, with a focus on dichorionic-diamniotic twin pregnancies. METHODS: We performed a retrospective cohort study including data from pregnant women with a twin or higher-order gestation who underwent genome-wide NIPT at one of the eight Belgian genetic centers between November 1, 2013, and March 1, 2020. Chorionicity and amnionicity were determined by ultrasonography. Follow-up invasive testing was carried out in the event of positive NIPT results. Sensitivity and specificity were calculated for the detection of trisomy 21, 18, and 13 in the dichorionic-diamniotic twin cohort. RESULTS: Unique NIPT analyses were performed for 4,150 pregnant women with a multiple gestation and an additional 767 with vanishing gestations. The failure rate in multiple gestations excluding vanishing gestations ranged from 0% to 11.7% among the different genetic centers. Overall, the failure rate was 4.8%, which could be reduced to 1.2% after single resampling. There were no common fetal trisomies detected among the 86 monochorionic-monoamniotic and 25 triplet cases. Two monochorionic-diamniotic twins had an NIPT result indicative of a trisomy 21, which was confirmed in both fetuses. Among 2,716 dichorionic-diamniotic twin gestations, a sensitivity of 100% (95% CI 74.12-100%) and a specificity of 100% (95% CI 99.86-100%) was reached for trisomy 21 (n=12). For trisomy 18 (n=3), the respective values were 75% (95% CI 30.06-95.44%) sensitivity and 100% (95% CI 99.86-100%) specificity, and for trisomy 13 (n=2), 100% (95% CI 20.65-100%) sensitivity and 99.96% (95% CI 99.79-99.99%) specificity. In the vanishing gestation group, 28 NIPT results were positive for trisomy 21, 18, or 13, with only five confirmed trisomies. CONCLUSION: Genome-wide NIPT performed accurately for detection of aneuploidy in dichorionic-diamniotic twin gestations

MMB & DFT 2014 : Proceedings of the International Workshops ; Modeling, Analysis and Management of Social Networks and their Applications (SOCNET 2014) & Demand Modeling and Quantitative Analysis of Future Generation Energy Networks and Energy-Efficient Systems (FGENET 2014)

At present, a comprehensive set of measurement, modeling, analysis, simulation, and performance evaluation techniques are employed to investigate complex networks. A direct transfer of the developed engineering methodologies to related analysis and design tasks in next-generation energy networks, energy-efficient systems and social networks is enabled by a common mathematical foundation. The International Workshop on "Demand Modeling and Quantitative Analysis of Future Generation Energy Networks and Energy-Efficient Systems" (FGENET 2014) and the International Workshop on "Modeling, Analysis and Management of Social Networks and their Applications" (SOCNET 2014) were held on March 19, 2014, at University of Bamberg in Germany as satellite symposia of the 17th International GI/ITG Conference on "Measurement, Modelling and Evaluation of Computing Systems" and "Dependability and Fault-Tolerance" (MMB & DFT 2014). They dealt with current research issues in next-generation energy networks, smart grid communication architectures, energy-efficient systems, social networks and social media. The Proceedings of MMB & DFT 2014 International Workshops summarizes the contributions of 3 invited talks and 13 reviewed papers and intends to stimulate the readers’ future research in these vital areas of modern information societies.Gegenwärtig wird eine reichhaltige Klasse von Verfahren zur Messung, Modellierung, Analyse, Simulation und Leistungsbewertung komplexer Netze eingesetzt. Die unmittelbare Übertragung entwickelter Ingenieurmethoden auf verwandte Analyse- und Entwurfsaufgaben in Energienetzen der nächsten Generation, energieeffizienten Systemen und sozialen Netzwerken wird durch eine gemeinsame mathematische Basis ermöglicht. Die Internationalen Workshops "Demand Modeling and Quantitative Analysis of Future Generation Energy Net-works and Energy-Efficient Systems" (FGENET 2014) und "Modeling, Analysis and Management of Social Networks and their Applications" (SOCNET 2014) wurden am 19. März 2014 als angegliederte Symposien der 17. Internationalen GI/ITG Konferenz "Measurement, Modelling and Evaluation of Computing Systems" und "Dependability and Fault-Tolerance" (MMB & DFT 2014) an der Otto-Friedrich-Universität Bamberg in Deutschland veranstaltet. Es wurden aktuelle Forschungsfragen in Energienetzen der nächsten Generation, Smart Grid Kommunikationsarchitekturen, energieeffizienten Systemen, sozialen Netzwerken und sozialen Medien diskutiert. Der Tagungsband der Internationalen Workshops MMB & DFT 2014 fasst die Inhalte von 3 eingeladenen Vorträgen und 13 begutachteten Beiträgen zusammen und beabsichtigt, den Lesern Anregungen für ihre eigenen Forschungen auf diesen lebenswichtigen Gebieten moderner Informationsgesellschaften zu vermitteln

Diagnostic yield of testing for RFC1 repeat expansions in patients with unexplained adult-onset cerebellar ataxia

status: publishe

Outcome of publicly funded nationwide first-tier noninvasive prenatal screening

Purpose Noninvasive prenatal screening (NIPS) using cell-free DNA has transformed prenatal care. Belgium was the first country to implement and fully reimburse NIPS as a first-tier screening test offered to all pregnant women. A consortium consisting of all Belgian genetic centers report the outcome of two years genome-wide NIPS implementation. Methods The performance for the common trisomies and for secondary findings was evaluated based on 153,575 genome-wide NIP tests. Furthermore, the evolution of the number of invasive tests and the incidence of Down syndrome live births was registered. Results Trisomies 21, 18, and 13 were detected in respectively 0.32%, 0.07%, and 0.06% of cases, with overall positive predictive values (PPVs) of 92.4%, 84.6%, and 43.9%. Rare autosomal trisomies and fetal segmental imbalances were detected in respectively 0.23% and 0.07% of cases with PPVs of 4.1% and 47%. The number of invasive obstetric procedures decreased by 52%. The number of trisomy 21 live births dropped to 0.04%. Conclusion Expanding the scope of NIPS beyond trisomy 21 fetal screening allows the implementation of personalized genomic medicine for the obstetric population. This genome-wide NIPS approach has been embedded successfully in prenatal genetic care in Belgium and might serve as a framework for other countries offering NIPS