Trisomy X News and Research

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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

Research indicates possible danger of cancerous tissue development by using stem cells

Research work carried out at the Hebrew University of Jerusalem arouses a cautionary warning in the growing field of the development of stem cells as a means for future treatment of patients through replacement of diseased or damaged tissues by using the patient's own stem cells. The research indicates a possible danger of cancerous tissue development in the use of such cells.

22 Nov 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

A novel approach for funding children's genetic disease research

Parent Project Muscular Dystrophy together with Trisomy 18 Foundation are among 100 charities that earned a $25,000 grant during Round 1 of the Chase Community Giving Challenge on Facebook.

19 Jan 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

Possible new approach to slow the progression of cognitive decline in Down's syndrome

A study by neuroscientist William C. Mobley, MD, PhD, chair of the Department of Neurosciences at the University of California, San Diego School of Medicine, and colleagues at Stanford University Medical School has demonstrated a possible new approach to slowing the inevitable progression of cognitive decline found in Down's syndrome.

19 Nov 2009

NuGEN launches the Ovation WGA System for genome amplification

NuGEN Technologies Inc, a pace-setter in nucleic acid sample preparation, announces its entrance into the DNA market today with the Ovation WGA System, a linear, remarkably reliable, and more robust solution to whole genome amplification.

30 Sep 2009

SEQUENOM's first laboratory developed cystic fibrosis test launched

SEQUENOM, Inc. today announced that the company's first laboratory developed test, the SensiGene(TM) Cystic Fibrosis (CF) Carrier Screening test, has been launched.

18 Sep 2009

Prenatal testing helps to bring down the birth rate of babies with Down syndrome

With new prenatal tests for Down syndrome on the horizon promising to be safer, more accurate, and available to women earlier in pregnancy, the medical community must come together and engage in dialogue about the impact of existing and expected tests, argues a new leading article published Online First by Archives of Disease in Childhood.

14 Sep 2009

Reduced ovarian reserve is associated with an increased risk of trisomic pregnancy

Women who have a diminished number of eggs in their ovaries, either because they are older or for some other reason such as ovarian surgery, may be more at risk of a trisomic pregnancy than women with an ovarian reserve within the normal, fertile range.

30 Jun 2009

People with Down syndrome may have more cancer-protective genes

Most cancers are rare in people with Down syndrome, whose overall cancer mortality is below 10 percent of that in the general population. Since they have an extra copy of chromosome 21, it's been proposed that people with Down syndrome may be getting an extra dose of one or more cancer-protective genes.

20 May 2009

Molecule tracking reveals mechanism of chromosome separation in dividing cells

University of Washington (UW) researchers are helping to write the operating manual for the nano-scale machine that separates chromosomes before cell division.

8 Mar 2009

Breakthrough in prenatal screening for Down syndrome

Lenetix, Inc. today announced a significant step in the development of an improved first and second trimester non-invasive fetal chromosomal screening test to detect Down syndrome and other genetic fetal conditions.

29 Jan 2009