Down’s Syndrome News and Research

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

One of the most common birth defects in newborn baby boys is never discussed, never seen in the media and rarely mentioned in medical educational material.

23 Jun 2017

MIT biologists identify how the immune system eliminates genetically imbalanced cells

Most living cells have a defined number of chromosomes: Human cells, for example, have 23 pairs. As cells divide, they can make errors that lead to a gain or loss of chromosomes, which is usually very harmful.

20 Jun 2017

Cryopreservation of Embryos to Improve Assisted Reproductive Technology

If we were to compare the progression of cryopreservation technology during recent years, we would find that from 2004 to 2013 over a timeframe of a decade, there has been around a 2.5 times increase in the rate of frozen-thawed embryo transfers (FETs) that were reported to the Society for Assisted Reproductive Technology (SART). While the rate of fresh embryo transfers (ET) that were completed was the same.

From Sofia Hospital of Obstetrics, Gynecology and Reproductive Medicine 19 Jun 2017

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

A phase 2 clinical trial in young adults with Down syndrome of a drug being investigated for the treatment of Alzheimer's disease supports further investigation of its potential.

1 Jun 2017

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

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

Even objective, automated vision testing--using a device called an autorefractor--gives variable results in patients with Down syndrome, reports a study in the May issue of Optometry and Vision Science, the official journal of the American Academy of Optometry. The journal is published by Wolters Kluwer.

5 May 2017

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

Illumina, Inc. today announced the launch of the VeriSeq™ NIPT Solution, a CE-IVD marked next-generation sequencing (NGS)-based approach to noninvasive prenatal testing, including CE-IVD marked library prep and analysis software, which enables laboratories in the European Union to bring efficient, highly accurate NIPT in-house.

10 Apr 2017

Urinary biomarkers may help identify OSA in children with Down syndrome

A study from Massachusetts General Hospital investigators raises the possibility of identifying children with Down syndrome who may also have obstructive sleep apnea (OSA) without the need for expensive and inconvenient sleep studies.

6 Apr 2017

Breakthrough technique harvests stem cells from urine to study Down syndrome

One of the biggest challenges in studying Down syndrome is finding the right research model. Animals and established cell lines are limited in their ability to mimic human disease, and results don't always translate to patient populations.

28 Mar 2017

NHGRI researchers use facial recognition software to diagnose rare genetic disease

Researchers with the National Human Genome Research Institute, part of the National Institutes of Health, and their collaborators, have successfully used facial recognition software to diagnose a rare, genetic disease in Africans, Asians and Latin Americans.

24 Mar 2017

Study supports clinical utility of DNA-based prenatal blood test in all pregnant women

A DNA-based prenatal blood test used to screen pregnancies for Down syndrome and similar chromosome abnormalities in high-risk women has moved a step closer to use in the general pregnancy population.

From Natera 3 Feb 2017

Combination assessment may rule out presence of OSA in children with Down syndrome

A combination of parental questionnaires and inexpensive diagnostic procedures that can be performed as part of a primary care visit may be able to rule out the presence of obstructive sleep apnea in people with Down syndrome.

26 Jan 2017

UI biologists discover protein that appears to regulate chromosome movement

Before an egg becomes fertilized, sets of chromosomes must pair up to pass along genetic information. This happens within each reproductive cell, where separate chromosomes of male and female origin move toward each other and eventually join.

25 Jan 2017

Popularity of non-invasive prenatal testing increasing among pregnant women

Genetic counselors are playing a greater role in areas of medicine in the wake of advancement in genomic technology.

19 Jan 2017

Research into common congenital brain defect identifies molecular basis

Scientists at Sanford Burnham Prebys Medical Discovery Institute (SBP) have discovered a molecular cause of hydrocephalus, a common, potentially life-threatening birth defect in which the head is enlarged due to excess fluid surrounding the brain.

14 Dec 2016

Families are probably not financially burdened by their childrens' Down Syndrome medical care

The first study to analyze the out-of-pocket costs to families for the medical care of children and adolescents with Down syndrome finds that monthly costs - averaged over the first 18 years of life - are less than $100 a month more than the costs for care of a typically developing child. The report published in American Journal of Medical Genetics, Part A also finds that the additional costs are lower when the child is older.

14 Dec 2016

Alkaloid in ayahuasca beverage triggers neurogenesis in human neural cells

Ayahuasca is a beverage that has been used for centuries by Native South-Americans. Studies suggest that it exhibits anxiolytic and antidepressant effects in humans.

7 Dec 2016

Study shows how oxidative damage may contribute to ‘maternal age effect’

For women in their 30s and beyond, the probability of a pregnancy that results in a miscarriage or a Down syndrome pregnancy is staggering with the risk increasing to 1 in 3 by the time a woman reaches her early 40s due to the "maternal age effect," the high incidence of mistakes in chromosome segregation that occur during the cell division process of meiosis, which gives rise to the egg.

19 Oct 2016

Psychologist designs interactive game for testing memory

Psychologist Jamie Edgin studies human memory at the University of Arizona, where her research often involves working with very young children and children with intellectual disabilities.

6 Oct 2016

New ACMG guidelines recommend NIPT as optimal initial screening test for all pregnant women

Natera, Inc., a leader in non-invasive genetic testing and the analysis of circulating cell-free DNA, applauds the new guidelines just released by the American College of Medical Genetics and Genomics, supporting the use of non-invasive prenatal tests (NIPT/NIPS) as an optimal, initial option to screen for specific genetic conditions, such as Trisomy 21 (Down syndrome) during pregnancy.

From Natera 30 Jul 2016

New diagnostic blood test may offer hope for transplant recipients through analysis of cfDNA

When cells die, whether through apoptosis or necrosis, the DNA and other molecules found in those cells don't just disappear. They wind up in the blood stream, where degraded bits and pieces can be extracted.

8 Jul 2016