Downs Syndrome News and Research

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The QCOVID4 algorithm developed using data from the Omicron wave identifies those at highest risk of severe COVID-19 outcomes

A recent article illustrated the derivation and validation of the QCOVID4 risk determination algorithm for predicting COVID-19 hospitalization and death risk in England.

18 Aug 2022

Study underscores value of Mass General’s online health tool about Down syndrome

A new software program effectively brings the expertise of Massachusetts General Hospital specialists to many more patients with Down syndrome (DS), according to a study published today in Genetics in Medicine.

8 Sep 2020

Discovery of protective protein could open door to better treatment of fast-growing cancer cells

The discovery that an essential protein plays a protective role during cell division, could open the door to better targeted treatment of fast-growing cancer cells.

1 Aug 2019

Genomic Analysis Technologies: Past, Present and Future

In this interview, Jay Flatley, Executive Chairman of Illumina, gives an introduction to Illumina and the next generation genomics tools they provide.

From Pittcon 10 Apr 2017

New prenatal test introduced for detecting Down’s Syndrome

A new prenatal test for Down’s Syndrome may be more effective at diagnosing the condition than the standard screening that is currently used, suggests a study published in the New England Journal of Medicine.

2 Apr 2015

Six in every ten serious heart defects in foetuses go undetected in ultrasound scans

Over six in every ten serious heart defects in foetuses go undetected in the ultrasound scans given to all pregnant women. According to research at Linköping University in Sweden, one reason why malformations are not found is obesity in the expectant mother.

13 Mar 2014

Researchers develop new cry analyzer to look for clues about baby's health

To parents, a baby's cry is a signal of hunger, pain, or discomfort. But to scientists, subtle acoustic features of a cry, many of them imperceptible to the human ear, can hold important information about a baby's health.

12 Jul 2013

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.

15 Mar 2013

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.

From Quest Diagnostics 13 Mar 2013

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.

From Quest Diagnostics 21 Feb 2013

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.

30 Jan 2013

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.

3 Sep 2012

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.

6 Feb 2012

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.

20 Oct 2011

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.

19 May 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

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.

From Thermo Fisher Scientific Inc. 26 Oct 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