Down Syndrome News and Research

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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.
Breakthrough technique harvests stem cells from urine to study Down syndrome

Breakthrough technique harvests stem cells from urine to study Down syndrome

NHGRI researchers use facial recognition software to diagnose rare genetic disease

NHGRI researchers use facial recognition software to diagnose rare genetic disease

Study supports clinical utility of DNA-based prenatal blood test in all pregnant women

Study supports clinical utility of DNA-based prenatal blood test in all pregnant women

Combination assessment may rule out presence of OSA in children with Down syndrome

Combination assessment may rule out presence of OSA in children with Down syndrome

UI biologists discover protein that appears to regulate chromosome movement

UI biologists discover protein that appears to regulate chromosome movement

Popularity of non-invasive prenatal testing increasing among pregnant women

Popularity of non-invasive prenatal testing increasing among pregnant women

Research into common congenital brain defect identifies molecular basis

Research into common congenital brain defect identifies molecular basis

Families are probably not financially burdened by their childrens' Down Syndrome medical care

Families are probably not financially burdened by their childrens' Down Syndrome medical care

Alkaloid in ayahuasca beverage triggers neurogenesis in human neural cells

Alkaloid in ayahuasca beverage triggers neurogenesis in human neural cells

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

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

Psychologist designs interactive game for testing memory

Psychologist designs interactive game for testing memory

New ACMG guidelines recommend NIPT as optimal initial screening test for all pregnant women

New ACMG guidelines recommend NIPT as optimal initial screening test for all pregnant women

New diagnostic blood test may offer hope for transplant recipients through analysis of cfDNA

New diagnostic blood test may offer hope for transplant recipients through analysis of cfDNA

Neurotherapeutic video game may help improve cognitive abilities in children with genetic disorders

Neurotherapeutic video game may help improve cognitive abilities in children with genetic disorders

Diabetic mothers three times more likely to have anti-fetal brain autoantibodies

Diabetic mothers three times more likely to have anti-fetal brain autoantibodies

Lack of affordable, accessible adaptive clothing creates barriers for people with disabilities

Lack of affordable, accessible adaptive clothing creates barriers for people with disabilities

Maternal immune dysfunction linked to risk of autism with intellectual disability in children

Maternal immune dysfunction linked to risk of autism with intellectual disability in children

Studies explore possible link between pediatric cancer and light therapy for newborn jaundice

Studies explore possible link between pediatric cancer and light therapy for newborn jaundice

Researchers identify single RCAN1 gene responsible for onset of type 2 diabetes

Researchers identify single RCAN1 gene responsible for onset of type 2 diabetes

Super Suits help improve developmental delays in children

Super Suits help improve developmental delays in children