Down Syndrome

Down syndrome is a chromosomal abnormality characterized by the presence of an extra copy of genetic material on the 21st chromosome, either in whole (Trisomy 21) or in part (such as due to translocations). The effects of the extra copy vary greatly among people, depending on the extent of the extra copy, genetic history and pure chance. In 2007, the American College of Obstetricians and Gynecologists (ACOG) endorsed guidelines that offer risk assessment to all pregnancies for fetal chromosomal abnormalities, including Down syndrome. It is estimated that approximately 70%, or 2.8 million, women undergo Down syndrome screening in the United States each year.

What is Down Syndrome?

Down syndrome or Down's syndrome, is a congenital condition that usually causes some degree of learning disability and is typically characterized by certain physical features.

Down Syndrome in Society

Down Syndrome Management

Down Syndrome Complications

Down Syndrome Epidemiology

Down Syndrome and Other Diseases

Down Syndrome Screening

Down Syndrome History

Gene Targets for in Utero Therapy in Down Syndrome: Potentials and Pitfalls

Down Syndrome Symptoms

Down Syndrome and Leukemia

Down Syndrome Research

Latest Down Syndrome News and Research

New blood test could save millions through early tuberculosis detection

A new study presented today at ADLM 2026 in Anaheim, California found that a simple blood test could accurately identify tuberculosis (TB) - a leading cause of death worldwide - among patients with varying degrees of exposure to the disease.

28 Jul 2026

Blood tests improve Alzheimer's detection in Down syndrome patients

New blood tests that detect early changes associated with Alzheimer's disease are making diagnosis easier and accessible to more patients, since they are less invasive than the brain scans or spinal taps typically used for a definitive diagnosis.

27 Jul 2026

Study uncovers biological differences behind co-occurring conditions of Down syndrome

In a groundbreaking new study published in Nature Communications, researchers from the University of Colorado Anschutz Linda Crnic Institute for Down Syndrome (Crnic Institute) discovered unique biological processes altered among individuals with Down syndrome who have different sets of co-occurring conditions.

23 Jul 2026

Healthcare barriers impact survival rates for adult congenital heart disease

People with congenital heart disease living in states with low household incomes and limited access to health insurance and the specialized care they need may be more likely to become disabled or die from congenital heart disease, according to new, independent research published today in the Journal of the American Heart Association, an open-access, peer-reviewed journal of the American Heart Association.

15 Jul 2026

Hidden junk DNA could play decisive role in cancer

Many repetitive regions of the genome have been considered "junk DNA" because the technologies available did not allow them to be studied at sufficient resolution.

5 Jun 2026

Rural siblings of neurodivergent children face poorer mental wellbeing

New Curtin University-led research has found siblings of people with neurodevelopmental conditions in regional and remote Australia are struggling with poorer wellbeing and are more likely to feel overlooked.

21 May 2026

New skin patch could replace bulky polygraphs and sleep monitors

A novel wireless chest patch enables continuous monitoring of stress signals, enhancing psychophysiological assessment in clinical and real-world settings.

19 May 2026

Neurodegeneration in Down syndrome may begin shortly after birth

Signs of neurodegeneration in individuals with Down syndrome may start as early as birth, a critical stage of brain development, a new study shows.

8 May 2026

Molecular map reveals how Down syndrome alters brain development

Scientists at UCLA have created one of the first cellular-resolution molecular maps detailing how Down syndrome alters human brain development before birth - a resource that resolves longstanding contradictions in the field and could lay the groundwork for future therapeutic strategies.

25 Apr 2026

Study maps the evolution of myeloid leukemia in children with Down syndrome

It may be possible to identify which pre-cancerous cells will develop into a rare type of blood cancer, due to new research showing that a single genetic change drives myeloid leukemia in children with Down syndrome.

23 Apr 2026

Excessive RNA editing enzyme alters brain circuit formation in Down syndrome

A collaborative research study co-led by scientists at the Icahn School of Medicine at Mount Sinai and the Liber Institute for Brain Development has for the first time identified a biological process that may help explain how the brain develops differently in people with Down syndrome.

31 Mar 2026

Brain lesions in Down syndrome show unexpected reversible changes

What has long been interpreted as permanent and irreversible vascular damage may not be exclusively so.

19 Mar 2026

Adults with intellectual and developmental disabilities face severe mental health disparities

Adults with intellectual and developmental disabilities, such as autism and Down syndrome, experience substantially higher rates of anxiety and depression than the general population of adults, researchers reported today in JAMA Network Open.

20 Feb 2026

FDA-approved anti-seizure drug could help fight Alzheimer's disease

While physicians and scientists have long known Alzheimer's disease involves the buildup of toxic protein fragments in the brain, they have struggled to understand how these harmful fragments are produced.

12 Feb 2026

Alterations in liver metabolism experienced by individuals with Down syndrome

Researchers at the University of Colorado Anschutz Linda Crnic Institute for Down Syndrome (Crnic Institute) have uncovered compelling evidence that individuals with Down syndrome experience significant alterations in liver metabolism, including elevated levels of bile acids in the bloodstream and other biomarkers of liver dysfunction.

22 Jan 2026

Finger-prick blood test shows promise for detecting Alzheimer’s disease biology

Finger-prick dried blood sampling can accurately measure key Alzheimer’s disease biomarkers, including p-tau217, GFAP, and NfL, showing strong concordance with venous plasma and meaningful associations with CSF pathology. While analytical limitations remain, this minimally invasive approach shows promise as a scalable research and screening tool within biomarker-based diagnostic pathways.

6 Jan 2026

Finger-prick blood tests enable remote detection of Alzheimer’s biomarkers

A groundbreaking international study has demonstrated that Alzheimer's disease biomarkers can be accurately detected using simple finger-prick blood samples that can be collected at home and mailed to laboratories without refrigeration or prior processing.

5 Jan 2026

Long-approved drug shows promise in slowing neuron loss in Alzheimer’s disease

Scientists at the University of Colorado Anschutz have discovered that while brain neuron changes, including cell loss, may begin in early life, a drug long-approved for other conditions might be repurposed to slow this damage, offering new hope for those with Alzheimer's disease (AD) and other cognition issues.

19 Dec 2025

UCI MIND secures major funding for new Alzheimer's research facility

With a $50 million lead gift from the Quilter family and approximately $30 million in new commitments, the University of California, Irvine's Institute for Memory Impairments and Neurological Disorders will begin planning to build a state-of-the-art research and care facility to enhance its position as a global leader in Alzheimer's disease and related dementias research and patient care.

8 Dec 2025

New discovery could reshape how scientists think about Alzheimer’s treatment

Rutgers neuroscientist Peng Jiang was visiting his hometown of Qianshan, a city in China's Anhui province, when a neighbor came to his parents' house with a story that would stay with him.

24 Nov 2025