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.
Researchers find new way to restrict ability of cancer to use glucose for energy

Researchers find new way to restrict ability of cancer to use glucose for energy

Review explains nuances of non-invasive prenatal screening for pregnant women

Review explains nuances of non-invasive prenatal screening for pregnant women

Penn State receives federal grant to improve services for children with complex communication needs

Penn State receives federal grant to improve services for children with complex communication needs

Research aims to raise awareness of higher rate of testicular cancer in patients with DS

Research aims to raise awareness of higher rate of testicular cancer in patients with DS

Studies shed new light on leading cause of birth defects and miscarriage

Studies shed new light on leading cause of birth defects and miscarriage

Study reveals how cells from patients with developmental disease differ from healthy cells

Study reveals how cells from patients with developmental disease differ from healthy cells

Maternal folic acid intake round conception may reduce children's pesticide-related autism risk

Maternal folic acid intake round conception may reduce children's pesticide-related autism risk

Antipsychotics commonly prescribed to adults with IDD, study finds

Antipsychotics commonly prescribed to adults with IDD, study finds

Large clinical study reveals the performance of Natera's Panorama® non-invasive prenatal test

Large clinical study reveals the performance of Natera's Panorama® non-invasive prenatal test

Medical City Frisco pediatric urologists break down barriers regarding penile birth defects

Medical City Frisco pediatric urologists break down barriers regarding penile birth defects

MIT biologists identify how the immune system eliminates genetically imbalanced cells

MIT biologists identify how the immune system eliminates genetically imbalanced cells

Cryopreservation of Embryos to Improve Assisted Reproductive Technology

Cryopreservation of Embryos to Improve Assisted Reproductive Technology

Phase 2 clinical study examines Alzheimer's disease drug to treat adults with Down syndrome

Phase 2 clinical study examines Alzheimer's disease drug to treat adults with Down syndrome

Study finds increased variability in autorefractor testing in patients with Down syndrome

Study finds increased variability in autorefractor testing in patients with Down syndrome

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

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

Urinary biomarkers may help identify OSA in children with Down syndrome

Urinary biomarkers may help identify OSA in children with Down syndrome

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