Down Syndrome News and Research

Latest Down Syndrome News and Research

Methylation provides signal of unique mix of leukocytes

When a person is sick, there is a tell-tale sign in their blood: a different mix of the various types of immune cells called leukocytes. A group of scientists at several institutions including Brown University has discovered a way to determine that mix from the DNA in archival or fresh blood samples, potentially providing a practical new technology not only for medical research but also for clinical diagnosis and treatment monitoring of ailments including some cancers.

10 Jul 2012

Researchers use maternal blood sample to sequence genome of an unborn baby

Researchers at the Stanford University School of Medicine have for the first time sequenced the genome of an unborn baby using only a blood sample from the mother.

5 Jul 2012

Study reveals decline in number of babies born with birth defects across Europe

The number of babies born with birth defects (major congenital anomalies) across Europe has fallen over the decade (2000-2009), University of Ulster research has revealed.

23 Jun 2012

Genes ‘choose only good eggs’ for IVF

Researchers have identified a technique that could help them “pick the right egg” for in vitro fertilization treatment.

8 Jun 2012

Study identifies 29 potential DS biomarker proteins in maternal serum

Prenatal screening for Down syndrome (DS) is still in need of improvement. Perinatal medicine experts have worked hard to find new biomarkers for screening of DS. Dr. Shi he Shao and his co-investigators, from Jiangsu University and Changzhou Woman and Children Health Hospital, report in the May 2012 issue of Experimental Biology and Medicine that they have successfully identified twenty-nine differentially expressed proteins in maternal serum from pregnancies carrying DS fetuses with proteomic approaches.

8 Jun 2012

Fluency therapy may improve stuttering in Down syndrome

Stuttering among children with Down syndrome may be substantially improved with fluency shaping therapy and parental contingency measures, leading to greater self-confidence, self-esteem, and school participation, suggest Canadian researchers.

7 Jun 2012

Novel assay accurately detects trisomy 21 or 18 from maternal blood samples

Current screening strategies for Down syndrome, caused by fetal trisomy 21 (T21), and Edwards syndrome, caused by fetal trisomy 18 (T18), have false positive rates of 2 to 3%, and false negative rates of 5% or higher. Positive screening results must be confirmed by amniocentesis or chorionic villus sampling, which carry a fetal loss rate of approximately 1 in 300 procedures. Now an international, multicenter cohort study finds that a genetic test to screen for trisomy 21 or 18 from a maternal blood sample is almost 100% accurate.

6 Jun 2012

Researchers identify chromosomal make-up of human eggs

In a groundbreaking study, Yale School of Medicine researchers and colleagues at the University of Oxford have identified the chromosomal make-up of a human egg. This discovery may soon allow them to avoid using abnormal - or aneuploid - eggs during infertility treatments, and instead to pick eggs that are healthy enough for a successful in vitro fertilization (IVF) cycle.

2 Jun 2012

Viewpoints: Doctor-led frugality; George will on his son's life with Down syndrome; Facebook spurs organ donors

In case you missed it, a recommendation came out last month that physicians cut back on using 45 common tests and treatments. ... Most doctors will agree with the recommendations on the list. But the problem of overuse is less one of bad doctors although there are a few; the problem is more one of good doctors working in a bad system. ... But we have to start somewhere -; and this list is a good start. Now it needs to be extended.

4 May 2012

Scientists identify how cell architecture changes during formation of gametes

Scientists using high-powered microscopes have made a stunning observation of the architecture within a cell - and identified for the first time how the architecture changes during the formation of gametes, also known as sex cells, in order to successfully complete the process.

2 May 2012

Couples with infertility and miscarriages offered detailed embryo screening with 99% accuracy

Termed “preimplantation genetic screening (PGS)” the process involves a full chromosome count of embryos to ensure only the healthiest are implanted. It has a 99 per cent accuracy rate, giving hopeful parents the best chance to conceive and carry a healthy baby to term.

30 Apr 2012

Women & Infants named lead center in 14-site study of cytomegalovirus

Women & Infants Hospital of Rhode Island, through its participation in the Maternal-Fetal Medicine Units Network, has been named the lead center in a 14-site, $25 million study of cytomegalovirus (CMV), the most common infection during pregnancy.

24 Apr 2012

Missing tool helps sperm and eggs develop exactly 23 chromosomes each

Researchers at the University of California, Davis have discovered a key tool that helps sperm and eggs develop exactly 23 chromosomes each. The work, which could lead to insights into fertility, spontaneous miscarriages, cancer and developmental disorders, is published April 13 in the journal Cell.

16 Apr 2012

Viewpoints: Health law seeks to remedy broken insurance market; Overhaul was sunk by its complexity

Commentators look at some of the underlying issues of the health law which is being considered by the Supreme Court.

10 Apr 2012

Review highlights potential strategies for treatment of Down syndrome, AD

Down syndrome (DS) is the most common genetic disorder in live born children arising as a consequence of a chromosomal abnormality. It occurs as a result of having three copies of chromosome 21, instead of the usual two. It causes substantial physical and behavioral abnormalities, including life-long cognitive dysfunction that can range from mild to severe but which further deteriorates as individuals with DS age.

2 Mar 2012

DANSR/FORTE assay more effective in diagnosing Edwards and Down syndrome

Using a noninvasive test on maternal blood that deploys a novel biochemical assay and a new algorithm for analysis, scientists can detect, with a high degree of accuracy, the risk that a fetus has the chromosomal abnormalities that cause Down syndrome and a genetic disorder known as Edwards syndrome.

22 Feb 2012

Massively parallel sequencing effective in diagnosing fetal aneuploidies

In a study to be presented today at the Society for Maternal-Fetal Medicine's annual meeting, The Pregnancy Meeting -, in Dallas, Texas, researchers will report findings that indicate that massively parallel sequencing can be used to diagnose fetal aneuploidies, including Down syndrome, Edwards syndrome, Patau syndrome and Turner syndrome.

13 Feb 2012

PAP improves attention, anxiety and QOL in children with OSAS

Children and adolescents with obstructive sleep apnea had substantial improvements in attention, anxiety and quality of life after treatment with positive airway pressure (PAP)—a nighttime therapy in which a machine delivers a stream of air through a mask into the nose.

10 Feb 2012

Chromosomal microarray provides more information about fetal abnormalities

A nationwide, federally funded study has found that testing a developing fetus' DNA through chromosomal microarray (CMA) provides more information about potential disorders than does the standard method of prenatal testing, which is to visually examine the chromosomes.

10 Feb 2012

Longer looks: Former Komen VP's new 'bona fides'; Alzheimer's definition changing?; Palin on her special needs child

Even if you put politics and ideology completely aside, Karen Handel had to resign from Susan G. Komen for the Cure. It's hard to think of the last time an employee did so much damage to such a respected brand in so little time. ... But while Komen will sustain long-term damage, Handel probably will be just fine. Yes, she's lost her position as Komen's vice president for public policy. But Handel has long had political aspirations, and she's now a right-wing cause célèbre.

10 Feb 2012