Down’s Syndrome News and Research

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GENNET, BGI enter collaborative agreement for non-invasive fetal trisomy test

BGI, the world's largest genomics organization, and GENNET, a center for genetics, fetal medicine and assisted reproduction, jointly announced that they have entered a collaborative agreement on non-invasive fetal trisomy (NIFTY) test with the aim to significantly improve reproductive health in Czech and Slovak Republic. Th

17 Oct 2012

Study documents women's experiences after abnormal prenatal chromosomal microarray testing

We often hear that "knowledge is power." But, that isn't always the case, especially when the knowledge pertains to the health of an unborn child, with murky implications, at best. A new study, led by researchers from the Perelman School of Medicine at the University of Pennsylvania, begins to document this exception to the general rule.

24 Sep 2012

Maternal choline intake could essentially change fetal genetic expression into adulthood

Just as women are advised to get plenty of folic acid around the time of conception and throughout early pregnancy, new research suggests another very similar nutrient may one day deserve a spot on the obstetrician's list of recommendations.

24 Sep 2012

Clinton skewers GOP on Medicare, offers strong defense of Obama on health law

In former President Bill Clinton's speech to nominate Barack Obama for re-election, he made a point-by-point case to return Obama to a second term, lauding his efforts to strengthen Medicare and Medicaid and to pass the health law.

7 Sep 2012

$Fetal fraction of cfDNA does not vary significantly among pregnant women regardless of trisomy risk$

Fetal fraction of cfDNA does not vary significantly among pregnant women regardless of trisomy risk

A study published in The Journal of Maternal-Fetal and Neonatal Medicine demonstrates that the fraction of fetal cell-free DNA (cfDNA) in maternal blood is unaffected by the mother's presumed risk for trisomy, offering support for the use of non-invasive prenatal testing (NIPT) for detecting genetic conditions such as Down syndrome in a broad patient population.

28 Aug 2012

Walnuts provide key nutrients that may be essential in male reproductive health

Research published in the recent issue of Biology of Reproduction Papers-in-Press reports that 75 grams (approximately 2.5 ounces) of walnuts consumed per day improved sperm vitality, motility, and morphology (normal forms) in a group of healthy young men between 21-35 years of age.

17 Aug 2012

Associate director of Clinical Genetics receives Angelo DiGeorge Medal of Honor

Donna McDonald-McGinn, M.S., CGC, associate director of Clinical Genetics and program director of the "22q and You" Center at The Children's Hospital of Philadelphia, received the Angelo DiGeorge Medal of Honor on July 6 at the 8th Biennial International 22q11.2 DS Conference in Lake Buena Vista, Florida. Ms. McDonald-McGinn, who began her career at CHOP in 1985, is the second person to receive this highly esteemed honor.

6 Aug 2012

Similar molecular pathways involved in intellectual disability due to Fragile X and Down syndromes

Intellectual disability due to Fragile X and Down syndromes involves similar molecular pathways report researchers in The EMBO Journal. The two disorders share disturbances in the molecular events that regulate the way nerve cells develop dendritic spines, the small extensions found on the surface of nerve cells that are crucial for communication in the brain.

3 Aug 2012

Adult human brain remarkably malleable and capable of new feats

There is growing evidence that, beyond what was previously believed, the adult human brain is remarkably malleable and capable of new feats -- even in the last decades of life.

2 Aug 2012

Many patients may benefit from day 5 embryo biopsy

Over the last several years Carolina Conceptions has been offering embryo biopsy to rule out chromosomal abnormalities and genetic diseases in future pregnancies. One of the downsides of the technique was that biopsies were performed after 3 days of embryo culture, which was later discovered to limit the ability of the embryo to undergo normal development. This actually reduced the chance of pregnancy, often erasing any advantage that was provided by the biopsy procedure.

21 Jul 2012

Memantine boosts memory function in people with Down syndrome

Researchers at the University of Colorado School of Medicine have found a drug that boosts memory function in those with Down syndrome, a major milestone in the treatment of this genetic disorder that could significantly improve quality of life.

18 Jul 2012

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