553 research outputs found
Enlarged NT (≥3.5 mm) in the first trimester - Not all chromosome aberrations can be detected by NIPT
__Background:__ Since non-invasive prenatal testing (NIPT) in maternal blood became available, we evaluated which chromosome aberrations found in our cohort of fetuses with an enlarged NT in the first trimester of pregnancy (tested with SNP microarray) could be detected by NIPT as well.
__Method:__ 362 fetuses were referred for cytogenetic testing due to an enlarged NT (≥3.5 mm). Chromosome aberrations were investigated using QF-PCR, karyotyping and whole genome SNP array.
__Results:__ After invasive testing a chromosomal abnormality was detected in 137/362 (38 %) fetuses. 100/362 (28 %) cases concerned trisomy 21, 18 or 13, 25/362 (7 %) an aneuploidy of sex chromosomes and 3/362 (0.8 %) triploidy. In 6/362 (1.6 %) a pathogenic structural unbalanced chromosome aberration was seen and in 3/362 (0.8 %) a susceptibility locus for neurodevelopmental disorders was found. We estimated that in 2-10 % of fetuses with enlarged NT a chromosome aberration would be missed by current NIPT approaches.
__Conclusion:__ Based on our cohort of fetuses with enlarged NT we may conclude that NIPT, depending on the approach, will miss chromosome aberrations in a significant percentage of pregnancies. Moreover all abnormal NIPT results require confirmatory studies with invasive testing, which will delay definitive diagnosis in ca. 30 % of patients. These figures are important for pretest counseling enabling pregnant women to make informed choices on the prenatal test. Larger cohorts of fetuses with an enlarged NT should be investigated to assess the additional diagnostic value of high resolution array testing for this indication
Search for Resonant Decays at Belle
We report measurements and searches for resonant decays where is a
meson or
the X(3872) particle.Comment: accepted by Physics Letters
Moments of the Hadronic Invariant Mass Spectrum in B --> X_c l nu Decays at Belle
We present a measurement of the hadronic invariant mass squared (M^2_X)
spectrum in charmed semileptonic B meson decays B --> X_c l nu based on 140
fb^-1 of Belle data collected near the Y(4S) resonance. We determine the first,
the second central and the second non-central moments of this spectrum for
lepton energy thresholds ranging between 0.7 and 1.9 GeV. Full correlations
between these measurements are evaluated.Comment: published version of the paper (one figure added, minor changes in
the text); 16 pages, 3 figures, 10 table
Intercalibration of the barrel electromagnetic calorimeter of the CMS experiment at start-up
Calibration of the relative response of the individual channels of the barrel electromagnetic calorimeter of the CMS detector was accomplished, before installation, with cosmic ray muons and test beams. One fourth of the calorimeter was exposed to a beam of high energy electrons and the relative calibration of the channels, the intercalibration, was found to be reproducible to a precision of about 0.3%. Additionally, data were collected with cosmic rays for the entire ECAL barrel during the commissioning phase. By comparing the intercalibration constants obtained with the electron beam data with those from the cosmic ray data, it is demonstrated that the latter provide an intercalibration precision of 1.5% over most of the barrel ECAL. The best intercalibration precision is expected to come from the analysis of events collected in situ during the LHC operation. Using data collected with both electrons and pion beams, several aspects of the intercalibration procedures based on electrons or neutral pions were investigated
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