Trisomy 21 News and Research

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An extra gene causes excessive inhibitory connections in the neocortex of Down syndrome mouse models

An extra copy of a gene that controls synapse formation in the cortex causes excessive inhibitory signaling and may contribute to Down syndrome, according to a new study publishing April 20th in the open access journal PLOS Biology by Bing Ye of the University of Michigan, US, and colleagues.

21 Apr 2023

Scientists identify the cause of leukemia in people with trisomy 21

People with a third copy of chromosome 21, known as trisomy 21, are at high risk of developing Acute Myeloid Leukaemia (AML), an aggressive form of blood cancer.

10 Mar 2023

Brain over-activation could be causing seizures and social deficits in genetic subtype of autism

Northwestern Medicine scientists have identified the cause of a genetic subtype of autism and schizophrenia that results in social deficits and seizures in mice and humans.

28 Feb 2023

Study suggests cortical hemorrhage in fetal brain may be associated with COVID-19

Researchers evaluated the impact of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infections on fetal brain health.

25 Jan 2023

ACMG's new guideline strongly recommends the use of noninvasive prenatal screening for fetal chromosome abnormalities

The American College of Medical Genetics and Genomics (ACMG) has released a new Evidence-Based Clinical Practice Guideline (EBG), "Noninvasive prenatal screening for fetal chromosome abnormalities in a general-risk population: An evidence-based clinical guideline of the American College of Medical Genetics and Genomics."

16 Dec 2022

The Applications of Non-Invasive Prenatal Testing (NIPT) - 10 Years of Experience

In this interview, NewsMedical speaks with Iris Meng from Shanghai, China, about the application of non-invasive prenatal testing (NIPT).

From BGI Genomics 6 Dec 2022

What parents need to know about prenatal tests | BGI Perspectives

The birth of every new life is to be celebrated! Expecting parents often advised by doctors from the department of gynecology and obstetrics to consider noninvasive prenatal tests (NIPT).

From BGI Genomics 26 Oct 2022

Study reveals why viral infections are less frequent but more severe in individuals with Down syndrome

Individuals with Down syndrome have less-frequent viral infections, but when present, these infections lead to more severe disease.

14 Oct 2022

The role of oxidative stress in congenital syndromes

Researchers discuss the role of oxidative stress in genetic conditions.

10 Oct 2022

Yourgene Health Receives HSA approval for IONA Nx NIPT Workflow in Singapore

Yourgene Health plc (“Yourgene”, AIM: YGEN), a leading international molecular diagnostics group, today announced it has received Health Sciences Authority (HSA) approval for its IONA® Nx NIPT Workflow in Singapore.

From Yourgene Health 29 Sep 2022

GnRH therapy could improve cognitive deficits in men with Down syndrome

Gonadotropin-releasing hormone (GnRH) therapy improves cognitive function in Down syndrome (DS) mouse models and male patients with DS, according to a new study.

1 Sep 2022

Overnight EEG studies may help inform care for girls with Rett syndrome

In Rett syndrome, a genetic condition affecting girls almost exclusively, mutations in the MECP2 gene cause a regression of language and motor skills starting at 12 to 18 months of age.

8 Aug 2022

Shared decision-making training program for nurses to support Down syndrome screening decisions

JMIR Publications recently published "Web-Based Training for Nurses on Using a Decision Aid to Support Shared Decision-making About Prenatal Screening: Parallel Controlled Trial" in JMIR Nursing which reported that in this study, these authors aimed to assess the impact of a shared decision-making (SDM) training program on nurses' intention to use a decision aid with pregnant women deciding on prenatal screening for Down syndrome.

29 Jul 2022

Insight into the future of genetic testing

In this interview, we speak to Sheetal Parmar, vice president of medical affairs and head of clinical services at Natera, about their cell-free DNA (cfDNA) testing services.

From Natera 15 Apr 2022

Scientific statement from the American Heart Association on COVID-19 and cardiovascular complications in children and adolescents

A recent scientific statement published in Circulation reviewed the current knowledge on COVID-19.

13 Apr 2022

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