Down Syndrome

News Down Syndrome

• Fragile X and Down syndromes share signalling pathway for intellectual disability

  Intellectual disability due to Fragile X and Down syndromes involves similar molecular pathways report researchers in The EMBO Journal. The two disorders share disturbances in the molecular events that regulate the way nerve cells develop dendritic spines, the small extensions found on the surface o more

• Multiplicom receives €200,000 grant for novel non-invasive pre-natal test

  Multiplicom, a molecular diagnostics company specializing in the design, development, production and commercialization of molecular genetic tests based on massively parallel sequencing, announced that it has been awarded a €200,000 grant from the Flemish agency for Innovation by Science and Technolo more

• Study finds massively parallel sequencing can detect fetal aneuploidies, including Down syndrome

  In a study to be presented at the Society for Maternal-Fetal Medicine's annual meeting, The Pregnancy Meeting ™, in Dallas, Texas, researchers will report findings that indicate that massively parallel sequencing can be used to diagnose fetal aneuploidies, including Down syndrome, Edwards syndrome, more

Publications Down Syndrome

• Age independent first‐trimester screening for Down syndrome: improvement in test performance

  ABSTRACT Objective To compare screening performance for Down syndrome (DS) of the absolute risk (AR) method to the first‐trimester combined test (FCT) at different maternal ages. Methods Retrospective analysis of 32,448 FCT. AR was defined as final risk divided by maternal age risk. more

• The role of noninvasive prenatal testing as a diagnostic versus a screening tool ‐ a cost‐effectiveness analysis

  ABSTRACT Objective As the sensitivity and specificity of noninvasive prenatal testing (NIPT) that uses cell‐free fetal DNA in maternal serum to identify Down syndrome in utero improves, NIPT could be considered a diagnostic test thus avoiding the complications of chorionic villus sampling or a more

• Maternal cfDNA screening for Down syndrome – a cost sensitivity analysis

  ABSTRACT Objective To determine the principal factors contributing to the cost of avoiding a birth with Down syndrome, using cell free (cf)DNA to replace conventional screening. Methods A range of unit costs were assigned to each item in the screening process. Detection rates were estim more

Market studies Down Syndrome

• Down Syndrome – Pipeline Review, H2 2012

  Introduction Global Markets Direct’s, 'Down Syndrome - Pipeline Review, H2 2012', provides an overview of the Down Syndrome therapeutic pipeline. This report provides information on the therapeutic development for Down Syndrome, complete with latest updates, and special features on late-stage and more

Websites Down Syndrome