Trisomy 21 News and Research

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Heart complications uncommon for children and young adults after SARS-CoV-2 infection

Heart complications are uncommon, yet treatable for children and young adults after COVID-19 disease or SARS-CoV-2 infection, according to a new scientific statement from the American Heart Association that details what has been learned about how to treat, manage and even prevent cardiovascular complications from the SARS-CoV-2 virus in youth.

12 Apr 2022

First genetic rat model of Down syndrome offers better understanding of the condition

In pursuit of better ways to test new therapies and further explore the impacts of the unique genetics associated with Down syndrome, researchers at Johns Hopkins Medicine and Tottori University in Japan have genetically engineered and characterized what is believed to be the first rat model of Down syndrome.

14 Mar 2022

Optical genome mapping could change the existing workflow within cytogenetic laboratories

Dutch-French research shows that Optical Genome Mapping (OGM) detects abnormalities in chromosomes and DNA very quickly, effectively and accurately. Sometimes even better than all existing techniques together, as they describe in two proof-of-concept studies published in the American Journal of Human Genetics.

8 Jul 2021

Adults with Down syndrome more likely to die from COVID-19 than general population

A new study by an international team of researchers found that adults with Down syndrome are more likely to die from COVID-19 than the general population, supporting the need to prioritize vaccinating people with the genetic disorder.

22 Feb 2021

People born with a heart defect have low risk of moderate or severe COVID-19 infection

Results of a retrospective analysis suggest that people born with a heart defect who developed COVID-19 symptoms had a low risk of moderate or severe COVID-19 infection, according to a new article published today in the Journal of the American Heart Association, an open access journal of the American Heart Association.

14 Oct 2020

Specific gene impairment may also protect people with Down syndrome

Scientists from Stanley Manne Children's Research Institute at Ann & Robert H. Lurie Children's Hospital of Chicago discovered that a set of genes with decreased expression in individuals with Down syndrome may lead to clinical abnormalities in this population, such as poor muscle development and heart valve problems.

6 Aug 2020

How COVID-19 affects people with Down Syndrome

A new study published in June 2020 on the preprint online server medRxiv reports on the increased risk of COVID-19 in Down Syndrome (DS) and certain characteristic features that are found in this population segment.

3 Jun 2020

New therapeutic possibilities for treating intellectual disability in Down syndrome

A team of researchers has studied the neural basis of intellectual disability in mice with Down syndrome and has discovered that the neural networks of brain circuits relevant to memory and learning are over-activated and that the connectivity of these circuits is poor.

5 May 2020

Researchers discover new mechanism involved in the expression of Down syndrome

Researchers at CHU Sainte-Justine and Université de Montréal have discovered a new mechanism involved in the expression of Down syndrome, one of the main causes of intellectual disability and congenital heart defects in children.

21 Feb 2020

High-income and low-income countries have major differences in CHD prevalence, mortality

Even though mortality from congenital heart disease has declined over the last three decades as diagnosis and treatments have advanced, the chances for a child to survive a CHD diagnosis significantly differs based on the country where he or she is born.

3 Feb 2020

Research provides evidence to support expansion of insurance coverage of NIPT

Research conducted by the University of Colorado Skaggs School of Pharmacy and Pharmaceutical Sciences provides evidence to support expansion of insurance plan coverage of noninvasive prenatal testing (NIPT), a simple maternal blood draw which screens for fetal chromosomal disorders including trisomy 13 (Patau syndrome), trisomy 18 (Edwards syndrome), and trisomy 21 (Down syndrome), to women under the age of 35.

8 Oct 2019

Researchers explore risk of ALL in children with Down syndrome

Acute lymphoblastic leukemia (ALL), is the most common childhood cancer. Children with trisomy 21 (Down syndrome) are 10 to 20 times more likely to develop ALL than children without Down syndrome.

24 Sep 2019

Potential of liquid biopsy in cancer biomarker detection and prenatal testing

The promise and challenges of liquid biopsy, an emerging, noninvasive method for targeted disease diagnosis and detection of cancer biomarkers to enable improved and personalized therapy, is the focus of a new special issue of Genetic Testing and Molecular Biomarkers, a peer-reviewed journal from Mary Ann Liebert, Inc., publishers.

22 Apr 2019

MIT announces creation of the Alana Down Syndrome Center

As part of MIT's continued mission to help build a better world, the Institute announced the creation of the Alana Down Syndrome Center, an innovative new research endeavor, technology development initiative, and fellowship program launched with a $28.6 million gift from Alana Foundation, a nonprofit organization started by Ana Lucia Villela of São Paulo, Brazil.

21 Mar 2019

NIPD offers reliable detection of fetal trisomies

Until a few years ago, invasive testing was the only way to diagnose trisomies, such as the Down syndrome, before birth. These invasive tests, for example amniocentesis, have a risk of causing miscarriage.

5 Jul 2018

Study shows feasibility of PerkinElmer's Vanadis NIPT assay for detection of fetal trisomy 21

PerkinElmer, Inc., a global leader committed to innovating for a healthier world, today announced the publication of a research study describing the technology behind the Vanadis NIPT system.

14 Mar 2018

Children born with Down's syndrome have superior genome that compensates for disability

Down's syndrome - also known as trisomy 21 - is a genetic disorder caused by an additional third chromosome 21. Although this genetic abnormality is found in one out of 700 births, only 20% of foetuses with trisomy 21 reach full term.

19 Jan 2018

Illumina introduces fast, highly accurate Veriseq NIPT Solution in the European Union

Illumina, Inc. today announced the launch of the VeriSeq™ NIPT Solution, a CE-IVD marked next-generation sequencing (NGS)-based approach to noninvasive prenatal testing, including CE-IVD marked library prep and analysis software, which enables laboratories in the European Union to bring efficient, highly accurate NIPT in-house.

10 Apr 2017

Popularity of non-invasive prenatal testing increasing among pregnant women

Genetic counselors are playing a greater role in areas of medicine in the wake of advancement in genomic technology.

19 Jan 2017

Study shows how oxidative damage may contribute to ‘maternal age effect’

For women in their 30s and beyond, the probability of a pregnancy that results in a miscarriage or a Down syndrome pregnancy is staggering with the risk increasing to 1 in 3 by the time a woman reaches her early 40s due to the "maternal age effect," the high incidence of mistakes in chromosome segregation that occur during the cell division process of meiosis, which gives rise to the egg.

19 Oct 2016