Down’s Syndrome News and Research

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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

Diabetic mothers and risk of birth defects in baby: Study

Anew study published in Diabetologica reveals that pregnant women with diabetes are almost four times more likely to have a baby with a birth defect.

6 Feb 2012

Medicaid news: Kansas insurer says 'no' to Medicaid

The state of Kansas' largest insurance company has decided it doesn't want to participate in Gov. Sam Brownback's plan to move Medicaid patients into privatized managed-care programs. In a letter addressed "Dear provider," Angie Strecker, director of institutional relations for Blue Cross Blue Shield of Kansas, said the insurer "has decided not to submit a proposal to the state to be a Medicaid contractor."

6 Feb 2012

DNA-based prenatal blood test can also identify trisomy 13 and 18

A newly available DNA-based prenatal blood test that can identify a pregnancy with Down syndrome can also identify two additional chromosome abnormalities: trisomy 18 (Edwards syndrome) and trisomy 13 (Patau syndrome). The test for all three defects can be offered as early as 10 weeks of pregnancy to women who have been identified as being at high risk for these abnormalities.

3 Feb 2012

Research Down Syndrome enters second year of national running program

Research Down Syndrome (RDS), a nonprofit foundation that is among the leading sources for funding of Down syndrome related cognitive research, is entering the second year of its national running program, Race for the Extraordinary, to help increase public awareness and funding for Down syndrome research. The mission of RDS is the development of safe and effective therapies to address the intellectual difficulties associated with Down syndrome.

30 Jan 2012

Chromosome aberrations happen in pairs when it comes to cancer

A healthy genome is characterized by 23 pairs of chromosomes, and even a small change in this structure - such as an extra copy of a single chromosome - can lead to severe physical impairment. So it's no surprise that when it comes to cancer, chromosomal structure is frequently a contributing factor, says Prof. Ron Shamir of the Blavatnik School of Computer Science at Tel Aviv University.

24 Jan 2012

Clinical trial to compare Aria's prenatal test and standard first-trimester screening for T21

Aria Diagnostics, a molecular diagnostics company, announced that it is initiating a blinded, multicenter clinical trial that compares its non-invasive prenatal test with the standard first-trimester screening test (serum screening and nuchal translucency ultrasound alone and in combination) to detect Trisomy 21, which is associated with Down syndrome.

13 Jan 2012

New NIST clinical SRM can help in accurate CMV detection and treatment

A new clinical Standard Reference Material (SRM) from the National Institute of Standards and Technology (NIST) will help health care professionals more accurately diagnose and treat cytomegalovirus (CMV), a common pathogen that is particularly dangerous for infants and persons with weakened immune systems.

12 Jan 2012

Aria's non-invasive test more effective in detecting Trisomy 18 & 21

Aria Diagnostics, a molecular diagnostics company, today announced publication of data supporting a directed, non-invasive approach to cell-free DNA (cfDNA) analysis in maternal blood for evaluation of two common fetal trisomies linked to genetic disorders.

10 Jan 2012

GSN completes $20M financing round

Gene Security Network Inc. (GSN) today announced the completion of a $20 million financing round, as well as the change of the company's name to Natera, Inc. The financing round was led by Lightspeed Venture Partners, which is joined in the current round by Claremont Creek Ventures and Sequoia Capital.

7 Jan 2012