9 research outputs found

    Incorporación del estudio de ADN fetal en sangre materna al cribado de cromosomopatías

    Get PDF
    Objetivo: Evaluar la efectividad del cribado combinado de primer trimestre para la detección prenatal de aneuploidías tras 6 años de implantación en nuestro servicio y su repercusión en la disminución de pruebas diagnósticas invasivas. Se propone establecer un protocolo para incorporar el estudio de ADN fetal en sangre materna a partir de las revisiones bibliográficas publicadas. Método: Se evaluó el riesgo de anomalía cromosómica fetal en 3177 gestaciones mediante cribado combinado de primer trimestre entre enero de 2011 y diciembre de 2014. Se revisaron las amniocentesis realizadas desde que se instauró el cribado combinado en 2008 comparándolas con las de los 5 años anteriores. Resultados: La tasa de detección del cribado para trisomía 21 fue del 94,4% y la tasa de falsos positivos de 6,4%. En el año 2005 estábamos realizando 194 amniocentesis, tras 6 años de implantación del cribado, en el año 2013 se realizaron 35 amniocentesis lo que implica una disminución del 70%. Conclusiones: El cribado combinado de primer trimestre ha demostrado una mayor tasa de detección para trisomía 21 que el cribado de segundo trimestre y/o la edad materna, además de que ha llevado a una importante reducción en el número de pruebas invasivas. En los próximos años la incorporación del estudio de ADN fetal mejorará la detección de aneuploidías, con una drástica disminución de las pruebas invasivas por lo que se hace necesario la implantación de nuevos protocolos. Aims: To evaluate the effectiveness of first trimester combined screening in the prenatal detection of aneuploidy after 6 years of implantation in our service and its impact in reducing invasive diagnostic tests. It is proposed to establish a protocol to incorporate the study of fetal DNA in maternal blood from published literature reviews. Methods: The risk of fetal chromosomal anomalies was assessed in 3177 pregnancies with first trimester combined screening between January 2009 and December 2014. The amniocenteses performed were checked against those of the previous 5 years. Results: The detection rate of screening for trisomy 21 was 94.4% and the false-positive rate was 6.4%. In 2005 there were 194 amniocenteses. In 2013, 5 years after the introduction of screening, 68 amniocenteses were performed, representing a 70% reduction in invasive procedures. Conclusions: First trimester combined screening has shown a higher detection rate for trisomy 21 that the second trimester screening and/or maternal age, and has substantially reduced the use of invasive prenatal diagnostics procedures. In the coming years, the incorporation of the study of fetal DNA improve the detection of aneuploidys with a drastic reduction of invasive tests so that, the implementation of new protocols is necessary

    Integrity monitoring for carrier phase ambiguities

    No full text
    The determination of the correct integer number of carrier cycles (integer ambiguity) is the key to high accuracy positioning with carrier phase measurements from Global Navigation Satellite Systems (GNSS). There are a number of current methods for resolving ambiguities including the Least-squares AMBiguity Decorrelation Adjustment (LAMBDA) method, which is a combination of least-squares and a transformation to reduce the search space. The current techniques to determine the level of confidence (integrity) of the resolved ambiguities (i.e. ambiguity validation), usually involve the construction of test statistics, characterisation of their distribution and definition of thresholds. Example tests applied include ratio, F-distribution, t-distribution and Chi-square distribution. However, the assumptions that underpin these tests have weaknesses. These include the application of a fixed threshold for all scenarios, and therefore, not always able to provide an acceptable integrity level in the computed ambiguities. A relatively recent technique referred to as Integer Aperture (IA) based on the ratio test with a large number of simulated samples of float ambiguities requires significant computational resources. This precludes the application of IA in real time. This paper proposes and demonstrates the power of an integrity monitoring technique that is applied at the ambiguity resolution and positioning stages. The technique has the important benefit of facilitating early detection of any potential threat to the position solution, originating in the ambiguity space, while at the same time giving overall protection in the position domain based on the required navigation performance. The proposed method uses the conventional test statistic for ratio testing together with a doubly non-central F distribution to compute the level of confidence (integrity) of the ambiguities. Specifically, this is determined as a function of geometry and the ambiguity residuals from least squares based ambiguity resolution algorithms including LAMBDA. A numerical method is implemented to compute the level of confidence in real time. The results for Precise Point Positioning (PPP) with simulated and real data demonstrate the power and efficiency of the proposed method in monitoring both the integrity of the ambiguity computation and position solution processes. Furthermore, due to the fact that the method only requires information from least squares based ambiguity resolution algorithms, it is easily transferable to conventional Real Time Kinematic (RTK) positioning.Peer Reviewe

    Enhanced precise point positioning for GNSS users

    No full text
    This paper summarizes the main results obtained during the development of an Enhanced Precise Point Positioning (EPPP) Global Navigation Satellite Systems multifrequency user algorithm. The main innovations include the application of precise ionospheric corrections to facilitate the resolution of undifferenced carrier phase ambiguities, ambiguity validation, and integrity monitoring. The performance of the EPPP algorithm in terms of accuracy, convergence time, and integrity is demonstrated with actual GPS and simulated Galileo data. This can be achieved with very limited bandwidth requirements for EPPP users (less than 300 b/s for dual-frequency GPS data)

    Evolution over Time of Ventilatory Management and Outcome of Patients with Neurologic Disease∗

    No full text
    OBJECTIVES: To describe the changes in ventilator management over time in patients with neurologic disease at ICU admission and to estimate factors associated with 28-day hospital mortality. DESIGN: Secondary analysis of three prospective, observational, multicenter studies. SETTING: Cohort studies conducted in 2004, 2010, and 2016. PATIENTS: Adult patients who received mechanical ventilation for more than 12 hours. INTERVENTIONS: None. MEASUREMENTS AND MAIN RESULTS: Among the 20,929 patients enrolled, we included 4,152 (20%) mechanically ventilated patients due to different neurologic diseases. Hemorrhagic stroke and brain trauma were the most common pathologies associated with the need for mechanical ventilation. Although volume-cycled ventilation remained the preferred ventilation mode, there was a significant (p < 0.001) increment in the use of pressure support ventilation. The proportion of patients receiving a protective lung ventilation strategy was increased over time: 47% in 2004, 63% in 2010, and 65% in 2016 (p < 0.001), as well as the duration of protective ventilation strategies: 406 days per 1,000 mechanical ventilation days in 2004, 523 days per 1,000 mechanical ventilation days in 2010, and 585 days per 1,000 mechanical ventilation days in 2016 (p < 0.001). There were no differences in the length of stay in the ICU, mortality in the ICU, and mortality in hospital from 2004 to 2016. Independent risk factors for 28-day mortality were age greater than 75 years, Simplified Acute Physiology Score II greater than 50, the occurrence of organ dysfunction within first 48 hours after brain injury, and specific neurologic diseases such as hemorrhagic stroke, ischemic stroke, and brain trauma. CONCLUSIONS: More lung-protective ventilatory strategies have been implemented over years in neurologic patients with no effect on pulmonary complications or on survival. We found several prognostic factors on mortality such as advanced age, the severity of the disease, organ dysfunctions, and the etiology of neurologic disease
    corecore