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Breathing disorder tests for Down syndrome children to be investigated by researchers at the University of Southampton

Researchers at the University of Southampton are planning to investigate tests for a breathing disorder that affects babies and children who have Down syndrome while they sleep. They aim to provide the missing evidence so that doctors can introduce affordable and simple routine screening. [More]
Non-invasive prenatal genetic screening: an interview with Dr. Charles Strom, Senior Medical Director, Quest Diagnostics

Non-invasive prenatal genetic screening: an interview with Dr. Charles Strom, Senior Medical Director, Quest Diagnostics

A new category of non-invasive genetic screening tests is gaining a great deal of interest in the medical field – including from Quest Diagnostics -- for its potential to help screen women during pregnancy for genetic abnormalities known as trisomies, the most common of which is Down syndrome. [More]
Quest Diagnostics offers access to a new non-invasive prenatal test developed by Natera

Quest Diagnostics offers access to a new non-invasive prenatal test developed by Natera

Quest Diagnostics (NYSE:DGX), the world’s leading diagnostic information services company, and Natera, a leading innovator in prenatal genetic testing, today announced that Quest Diagnostics will offer physicians access to Panorama™, a new non-invasive prenatal test developed by Natera. [More]

Some second trimester markers for Down’s syndrome more telling than others

A new analysis has found that some second trimester markers for Down’s syndrome that are detected by ultrasound are more telling than others. Published early online in Ultrasound in Obstetrics & Gynecology, the study’s results will help adjust pregnant women’s risks for having a child with the condition. [More]

Personal digital assistants can improve workplace performance for people with ASD function

Only 15% of adults with autism spectrum disorder (ASD) in the United States have some form of paid work. Difficulties related to cognition, behavior, communication, and sensory processing can impact their ability to attain and retain employment. Now investigators report the task management and organizational features on personal digital assistants (PDAs) can help people with ASD function more successfully in the workplace. [More]
Diabetic mothers and risk of birth defects in baby: Study

Diabetic mothers and risk of birth defects in baby: Study

Anew study published in Diabetologica reveals that pregnant women with diabetes are almost four times more likely to have a baby with a birth defect. [More]
A more accurate blood test to detect fetal Downs syndrome launched

A more accurate blood test to detect fetal Downs syndrome launched

Pregnant mothers in the U.S. who wish to know whether they're carrying a fetus with Down syndrome now have access to a commercial genetic blood test that has a 99 per cent accuracy rate. [More]
Stem cells from kidneys - World first from Australian scientists

Stem cells from kidneys - World first from Australian scientists

According to Australian scientists, their latest stem cell research breakthrough will bring new treatments for a growing epidemic of chronic kidney disease. They are the first in the world to generate a type of stem cell from human kidney cells. The Melbourne scientists are hoping their discovery will have far-reaching effects in treating the disease. [More]
DNA sequencing of maternal blood plasma can accurately detect trisomy 21

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. [More]

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. [More]

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. [More]
Lumiphore signs global cooperation with Algeta to integrate Lumi4 complexes

Lumiphore signs global cooperation with Algeta to integrate Lumi4 complexes

Lumiphore Inc., a portfolio company of Nanostart AG, has signed a global cooperation with Algeta ASA a leading company specializing in innovative radiopharmaceutical therapies to treat cancer patients. The agreement enables the integration of Lumiphore's Lumi4 complexes into the targeted radiotherapeutics and companion diagnostics from Algeta. [More]
Genetics research team discovers new recurrent translocations

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. [More]
Frost & Sullivan awards FCMB for breakthrough work in non-invasive prenatal testing

Frost & Sullivan awards FCMB for breakthrough work in non-invasive prenatal testing

Frost & Sullivan is pleased to announce that it has awarded its prestigious 2010 Scandinavia New Product Innovation Award to FCMB ApS ("FCMB") for its breakthrough work in non-invasive prenatal testing. FCMB is developing a suite of non-invasive prenatal diagnostics based on isolating fetal cells from maternal blood samples. FCMB's diagnostics have the potential to provide results that are as accurate as more invasive procedures, such as amniocentesis and chronic villus sampling (CVS), without the risk of miscarriage or other fetal damage. [More]

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. [More]

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. [More]
First UK conference to address benefits of breastfeeding for babies with developmental disabilities

First UK conference to address benefits of breastfeeding for babies with developmental disabilities

The first UK conference to address the benefits of breastfeeding for babies with developmental disabilities will be hosted by the University of Hertfordshire next week. [More]

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. [More]
Researchers to measure children with Down syndrome to develop new growth charts

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. [More]
'Mindfulness' for reducing aggressive behaviour in people with developmental disabilities

'Mindfulness' for reducing aggressive behaviour in people with developmental disabilities

A very ancient and effective practice - mindfulness - is being given a new and surprising application. For the first time ever, mindfulness is being used to reduce the likelihood of aggressive behaviour in people with developmental disabilities as well as mental health problems. [More]