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.
Study finds increased rate of repeat pregnancies in women with intellectual and developmental disabilities

Study finds increased rate of repeat pregnancies in women with intellectual and developmental disabilities

Genetic testing before embryo transfer makes no difference to live birth rates

Genetic testing before embryo transfer makes no difference to live birth rates

New lab-on-a-chip technology could soon help detect fetal genetic abnormalities in early pregnancy

New lab-on-a-chip technology could soon help detect fetal genetic abnormalities in early pregnancy

NIPD offers reliable detection of fetal trisomies

NIPD offers reliable detection of fetal trisomies

New guidelines recommend newborns with Down’s syndrome to receive leukemia test

New guidelines recommend newborns with Down’s syndrome to receive leukemia test

Technology breakthrough could enable detection of fetal genetic abnormalities in early pregnancy

Technology breakthrough could enable detection of fetal genetic abnormalities in early pregnancy

New drug reduces symptoms of Rett syndrome in preclinical models

New drug reduces symptoms of Rett syndrome in preclinical models

Scientists identify gene responsible for evolution of recombination rates

Scientists identify gene responsible for evolution of recombination rates

Make room for babies: After giving birth, Duckworth presses Senate to bend rules

Make room for babies: After giving birth, Duckworth presses Senate to bend rules

Researchers develop way to sequence entire fetal genome by modifying prenatal testing method

Researchers develop way to sequence entire fetal genome by modifying prenatal testing method

New discovery could accelerate clinical translation of stem cell-based therapies

New discovery could accelerate clinical translation of stem cell-based therapies

In Trump’s first year, anti-abortion forces make strides despite setbacks

In Trump’s first year, anti-abortion forces make strides despite setbacks

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

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

MGH study points toward potential strategy for treating X-linked disorders

MGH study points toward potential strategy for treating X-linked disorders

New technique may reveal clues about role of centromeres in Down syndrome, other birth defects

New technique may reveal clues about role of centromeres in Down syndrome, other birth defects

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