Trisomy 21 News and Research

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Clinical trial to compare Aria's prenatal test and standard first-trimester screening for T21

Aria Diagnostics, a molecular diagnostics company, announced that it is initiating a blinded, multicenter clinical trial that compares its non-invasive prenatal test with the standard first-trimester screening test (serum screening and nuchal translucency ultrasound alone and in combination) to detect Trisomy 21, which is associated with Down syndrome.

13 Jan 2012

Aria's non-invasive test more effective in detecting Trisomy 18 & 21

Aria Diagnostics, a molecular diagnostics company, today announced publication of data supporting a directed, non-invasive approach to cell-free DNA (cfDNA) analysis in maternal blood for evaluation of two common fetal trisomies linked to genetic disorders.

10 Jan 2012

Longer looks: Romney and abortion politics

The heart attacks never came. Four days later, Chris woke up. It was not the awakening of Hollywood movies in which the patient comes to, just as he was, speaking full sentences and completely mobile. Three years later, Chris still cannot talk. Although he breathes on his own, his lungs battle a steady barrage of infections; a feeding tube provides all his sustenance, and his muscles have contracted into short, twisted knots. He can move only the slightest bit. … Still, Wayne and Judy say that his cognition is improving.

9 Dec 2011

New DNA-based prenatal blood test can identify pregnancy with Down syndrome

A new DNA-based prenatal blood test that can strikingly reduce the number of risky diagnostic procedures needed to identify a pregnancy with Down syndrome is ready to be introduced into clinical practice.

18 Oct 2011

LifeCodexx, Sequenom partner to commercialize prenatal lab testing services in Europe

Sequenom, Inc., a life sciences company providing innovative genetic analysis solutions, today announced it has partnered with LifeCodexx AG, a company focused on the development of clinically validated Next Generation Molecular Diagnostics, for the commercialization of prenatal laboratory testing services in Europe.

11 Aug 2011

Illumina, Sequenom sign three-year supply agreement

Sequenom, Inc., a life sciences company providing innovative genetic analysis solutions, today announced it has signed a three-year supply agreement with Illumina, Inc., a leading developer and manufacturer of life sciences tools for the large-scale analysis of genetic variation and function.

From Illumina, Inc. 11 Jul 2011

New insight into oocyte chromosome abnormalities

Ovarian stimulation undertaken by women of advanced maternal age receiving fertility treatment may be disrupting the normal pattern of meiosis - a critical process of chromosome duplication followed by two specialised cell divisions in the production of oocytes and sperm - and leading to abnormalities of chromosome copy numbers that result in IVF failure, pregnancy loss or, more rarely, the birth of affected children with conditions such as Down's syndrome, which is caused by the inheritance of three copies of chromosome 21.

4 Jul 2011

Six new scientists to receive SWCRF grants for cancer research

This year, the Samuel Waxman Cancer Research Foundation awarded individual grants to six new researchers in addition to funding 18 collaborative grants and three ongoing individual grants. The Foundation expanded its scientific grants program to a total of more than $3.1 million.

1 Jul 2011

Start of clinical validation study of Down’s syndrome diagnostic test

In conjunction with several Central European prenatal centers, scientists at GATC Biotech AG and LifeCodexx AG have begun the clinical validation study of a non-invasive, prenatal diagnostic test based on next generation sequencing.

28 Jun 2011

Beta amyloid may inhibit specific cell motors and contribute to memory loss

A protein associated with Alzheimer's disease clogs several motors of the cell transport machinery critical for normal cell division, leading to defective neurons that may contribute to the memory-robbing disease, University of South Florida researchers report.

3 May 2011

Trial of non-invasive prenatal test to determine Down syndrome successful

At the moment, the only reliable way of diagnosing chromosomal irregularities during pregnancy is to use invasive prenatal methods. This causes miscarriage in about one per cent of these risky surgical procedures.

14 Apr 2011

DNA sequencing of maternal blood plasma can accurately detect trisomy 21

In a study published online today in the American Journal of Obstetrics & Gynecology, researchers from the Sequenom Center for Molecular Medicine confirmed that DNA sequencing of maternal blood plasma could accurately detect trisomy 21.

10 Feb 2011

DNA blood test can help rule out Down's syndrome among high risk pregnancies

The blood test could mean that 98% of invasive procedures could be avoided, say the authors. The test uses the latest DNA technology to analyse genetic components in the mother's blood that indicate whether the foetus has Down's.

12 Jan 2011

Sequenom CMM authorizes SensiGene T21 LDT clinical validation study

Sequenom, Inc. today announced that the company's wholly-owned reference laboratory, the Sequenom Center for Molecular Medicine (Sequenom CMM), has authorized commencement of a pivotal clinical validation study. This validation study is designed to evaluate the clinical performance of the SensiGene T21 Laboratory Developed Test (LDT) for the detection of an overabundance in maternal blood of chromosome 21, which is associated with fetal chromosome 21 aneuploidy.

23 Dec 2010

Genetics research team discovers new recurrent translocations

A genetics research team based at The Children's Hospital of Philadelphia continues to discover recurrent translocations—places in which two chromosomes exchange pieces of themselves. As many as 1 in 600 persons carry balanced chromosome translocations, which involve no loss or gain of DNA. Most such people appear healthy, but may have a child with abnormal chromosome composition and disabilities resulting from disrupted, extra or missing copies of genes.

30 Jul 2010

Simple blood test may help detect chromosomal abnormalities in developing foetus

Researchers in The Netherlands believe they are on the verge of developing a simple, prenatal blood test that would be able to detect accurately chromosomal abnormalities in the developing foetus.

29 Jun 2010

Non-Invasive prenatal blood test to detect chromosomal abnormalities in foetus

Researchers in The Netherlands believe they are on the verge of developing a simple, prenatal blood test that would be able to detect accurately chromosomal abnormalities in the developing foetus. At present, the only reliable way to do this is through amniocentesis or chorionic villus sampling, both of which are invasive and carry the risk of triggering a miscarriage.

29 Jun 2010

China Medical Technologies' AUTOMAGLIA 90 analyzer and Down Syndrome Screening receive SFDA approval

China Medical Technologies, Inc., a leading China-based advanced in-vitro diagnostic company, today announced that it received approval for its AUTOMAGLIA 90 fully-automated ECLIA analyzer as well as Down Syndrome screening kit from the State Food and Drug Administration of China.

29 Apr 2010

Researchers to measure children with Down syndrome to develop new growth charts

Parents and doctors have known for a long time that children with Down syndrome tend to grow more slowly and are considerably shorter than most other children. But pediatricians needing to record growth milestones at regular office visits have an outdated set of growth charts based on data collected more than 25 years ago.

23 Apr 2010

Down syndrome and Alzheimer's disease are the same

Nearly 20 years ago Huntington Potter kicked up a storm of controversy with the idea that Down syndrome and Alzheimer's were the same disease. Now the evidence is in: He was right.

18 Jan 2010