Down’s Syndrome News and Research

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Natera, LifeLabs sign new agreement for non-invasive prenatal testing in Canada

Natera, Inc., a global leader in non-invasive genetic testing, and LifeLabs Medical Laboratory Services today announced a new agreement that gives LifeLabs the rights to perform non-invasive prenatal testing (NIPT) in Canada using Natera technology.

From Natera 25 Apr 2015

Case Western Reserve and MIT receive $1.7 million to explore potential treatments for Down syndrome

Thanks to the generosity of a philanthropy dedicated to children's issues, renowned Down syndrome researcher Alberto Costa, MD, PhD, has taken yet another step toward making Northeast Ohio the nation's leader in exploring potential treatments of the genetic condition that affects 400,000 people in the U.S.

23 Apr 2015

Findings of Ariosa's non-invasive prenatal testing study published online in NEJM

Results from the largest clinical trial to date, comparing non-invasive prenatal testing (NIPT) using the Harmony Prenatal Test with conventional first trimester combined screening (FTS) in a general pregnancy population have been published online in The New England Journal of Medicine.

6 Apr 2015

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

Position statement on promise, challenges of non-invasive prenatal testing

Two of the world's largest professional societies of human geneticists have issued a joint position statement on the promise and challenges of non-invasive prenatal testing (NIPT), a new procedure to test blood drawn from pregnant mothers for Down syndrome and other chromosomal disorders in the fetus.

26 Mar 2015

Physicians develop new quality measures for treatment of childhood obstructive sleep apnea

A work group of physicians from leading academic medical centers across the country, including NYU Langone Medical Center, has developed new quality measures for the detection and treatment of childhood obstructive sleep apnea (OSA), a potentially morbid, life-altering condition that affects hundreds of thousands of children and adolescents nationwide.

16 Mar 2015

Einstein researchers find possible clue to why older mothers have babies born with Down syndrome

Researchers at Albert Einstein College of Medicine of Yeshiva University have found a possible clue to why older mothers face a higher risk for having babies born with conditions such as Down syndrome that are characterized by abnormal chromosome numbers.

19 Feb 2015

New computer-simulated prescribing strategies for glasses may help Down syndrome patients see better

New computer-simulated prescribing strategies for glasses may improve the vision of individuals with Down syndrome, thanks to a team of University of Houston College of Optometry researchers who received a $1.67 million grant from the National Eye Institute.

12 Feb 2015

Cell free DNA analysis less effective than sequential screening in finding fetal chromosomal abnormalities

In a study to be presented on Feb. 5 in an oral plenary session at 8 a.m. PST, at the Society for Maternal-Fetal Medicine's annual meeting, The Pregnancy Meeting, in San Diego, researchers will report that cell free DNA analysis is less effective than sequential screening as primary testing for fetal chromosomal abnormalities.

5 Feb 2015

Alzheimer's brains commonly have many neurons with more DNA and genomic copies of APP gene

Scientists at The Scripps Research Institute have found diverse genomic changes in single neurons from the brains of Alzheimer's patients, pointing to an unexpected factor that may underpin the most common form of the disease.

5 Feb 2015

Cell-free fetal DNA testing more effective in detecting Down syndrome

Cell-free fetal DNA testing, which measures the relative amount of free fetal DNA in a pregnant woman's blood, is a new screening test that indicates the risk of Down syndrome (trisomy 21), Edward syndrome (trisomy 18), and Patau syndrome (trisomy 13).

3 Feb 2015

BGI Diagnostics develops ‘education hub’ to raise awareness about non-invasive prenatal testing

provider of accurate, reliable and affordable genetic tests and molecular diagnostics services has demonstrated its commitment to raising awareness about non-invasive prenatal testing (NIPT) by developing a dedicated ‘education hub’ as part of its new, highly informative website.

12 Dec 2014

Maternal age and successful egg freezing with PGS: an interview with Dr. Santiago Munné

The leading cause of of pregnancy loss or infertility is chromosomal abnormality or imbalance, where extra genetic material is present or some is missing - what’s called aneuploidy. This imbalance leads to the inability to produce viable embryos or pregnancy.

2 Dec 2014

Researchers to develop new tests to evaluate cognitive growth in people with intellectual disability

Leading researchers, funded through a new, five-year, $3.2 million grant from the National Institutes of Health, are collaborating to develop and evaluate tests designed to measure and track changes in the cognitive functioning of people who typically are difficult to assess accurately: those with an intellectual disability, formerly termed mental retardation.

3 Nov 2014

High risk for congenital heart defects in Down syndrome provides tool to identify changes in genes

Down syndrome is the most common chromosomal abnormality in humans, involving a third copy of all or part of chromosome 21. In addition to intellectual disability, individuals with Down syndrome have a high risk of congenital heart defects. However, not all people with Down syndrome have them – about half have structurally normal hearts.

25 Oct 2014

Researchers awarded grant to develop non-invasive device to detect Human Cytomegalovirus

Researchers from Cardiff and Swansea Universities have been awarded a grant of more than £323k to develop a new, non-invasive, low-cost, and easy to use point of care device to diagnose Human Cytomegalovirus (HCMV).

15 Oct 2014

Penn State scientists find that mitochondrial disease more prevalent in older moms

The discovery of a "maternal age effect" by a team of Penn State scientists that could be used to predict the accumulation of mitochondrial DNA mutations in maternal egg cells -- and the transmission of these mutations to children -- could provide valuable insights for genetic counseling.

14 Oct 2014

Women better informed about prenatal genetic testing choose fewer tests

A clinical trial led by UC San Francisco has found that when pregnant women are educated about their choices on prenatal genetic testing, the number of tests actually drops, even when the tests are offered with no out-of-pocket costs.

25 Sep 2014

Decision-support guide for prenatal genetic testing, no cost for testing result in less prenatal test use

An intervention for pregnant women that included a computerized, interactive decision-support guide regarding prenatal genetic testing, and no cost for testing, resulted in less prenatal test use and more informed choices, according to a study in the September 24 issue of JAMA.

24 Sep 2014

Research findings provide more details about earliest stages of neurodegenerative disease

The link between a protein typically associated with Alzheimer's disease and its impact on memory and cognition may not be as clear as once thought, according to a new study from the University of Wisconsin-Madison's Waisman Center.

19 Sep 2014