Trisomy X News and Research

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Research provides evidence to support expansion of insurance coverage of NIPT

Research conducted by the University of Colorado Skaggs School of Pharmacy and Pharmaceutical Sciences provides evidence to support expansion of insurance plan coverage of noninvasive prenatal testing (NIPT), a simple maternal blood draw which screens for fetal chromosomal disorders including trisomy 13 (Patau syndrome), trisomy 18 (Edwards syndrome), and trisomy 21 (Down syndrome), to women under the age of 35.

8 Oct 2019

Researchers explore risk of ALL in children with Down syndrome

Acute lymphoblastic leukemia (ALL), is the most common childhood cancer. Children with trisomy 21 (Down syndrome) are 10 to 20 times more likely to develop ALL than children without Down syndrome.

24 Sep 2019

Potential of liquid biopsy in cancer biomarker detection and prenatal testing

The promise and challenges of liquid biopsy, an emerging, noninvasive method for targeted disease diagnosis and detection of cancer biomarkers to enable improved and personalized therapy, is the focus of a new special issue of Genetic Testing and Molecular Biomarkers, a peer-reviewed journal from Mary Ann Liebert, Inc., publishers.

22 Apr 2019

MIT announces creation of the Alana Down Syndrome Center

As part of MIT's continued mission to help build a better world, the Institute announced the creation of the Alana Down Syndrome Center, an innovative new research endeavor, technology development initiative, and fellowship program launched with a $28.6 million gift from Alana Foundation, a nonprofit organization started by Ana Lucia Villela of São Paulo, Brazil.

21 Mar 2019

Cannabinoid receptor type 1 appears to be potential target to treat Down syndrome

A study by the Neuropharmacology Laboratory-NeuroPhar of the Department of Experimental and Health Sciences at UPF reveals the involvement of the endocannabinoid system in cognitive disorders in mouse models of Down syndrome.

7 Feb 2019

NIPD offers reliable detection of fetal trisomies

Until a few years ago, invasive testing was the only way to diagnose trisomies, such as the Down syndrome, before birth. These invasive tests, for example amniocentesis, have a risk of causing miscarriage.

5 Jul 2018

Study shows feasibility of PerkinElmer's Vanadis NIPT assay for detection of fetal trisomy 21

PerkinElmer, Inc., a global leader committed to innovating for a healthier world, today announced the publication of a research study describing the technology behind the Vanadis NIPT system.

14 Mar 2018

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

Down's syndrome - also known as trisomy 21 - is a genetic disorder caused by an additional third chromosome 21. Although this genetic abnormality is found in one out of 700 births, only 20% of foetuses with trisomy 21 reach full term.

19 Jan 2018

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

New study correlates 80 cancer-related gene mutations with 34 AML subgroups

A large, new study of adults with acute myeloid leukemia (AML) correlates 80 cancer-related gene mutations with five subtypes of AML, which are defined by the presence of specific chromosomal abnormalities. The findings might help guide mutation testing and treatment decisions in the future.

21 Mar 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

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

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

Study reveals insights into survival, surgical interventions for children with trisomy 13 and 18

Among children born with the chromosome disorders trisomy 13 or 18 in Ontario, Canada, early death was the most common outcome, but 10 percent to 13 percent survived for 10 years, according to a study appearing in the July 26 issue of JAMA.

27 Jul 2016

Additional chromosomal abnormalities prognostic for CML

Additional chromosomal abnormalities can be used to create two prognostic groups of patients with chronic myeloid leukaemia, suggests research published in Blood.

20 Apr 2016

Clinical validation study on MaterniT GENOME test published in American Journal of Obstetrics and Gynecology

Sequenom, Inc., a life sciences company committed to enabling healthier lives through the development of innovative products and services, today announced the publication of a clinical validation study on the MaterniT GENOME laboratory-developed test in the American Journal of Obstetrics and Gynecology.

26 Feb 2016

Researchers develop new growth charts for U.S. children with Down syndrome

Pediatric researchers have developed the first set of growth charts for U.S. children with Down syndrome since 1988. These new charts provide an important tool for pediatricians to evaluate growth milestones for children and adolescents with this condition. With these new charts, pediatricians will be able to compare each patient's growth patterns with peers of the same age and sex who have Down syndrome.

28 Oct 2015

Chromosome 3q26.2 rearrangements linked to poor CML prognosis

Rearrangements of chromosome 3q26.2 have a significant negative impact on patients with chronic myeloid leukaemia, suggests research published in Blood.

1 Oct 2015

Sequenom Laboratories announces launch of MaterniT GENOME test

Sequenom Laboratories, a wholly owned subsidiary of Sequenom, Inc., a life sciences company committed to enabling healthier lives through the development of innovative products and services, announced today the upcoming launch of the MaterniT GENOME laboratory-developed test.

13 Jul 2015

Study: Non-invasive prenatal testing works in women at high risk of having babies with Down's syndrome

Results from a national study of non-invasive prenatal testing (NIPT) in women at high risk of having a baby with Down's syndrome will be presented at the annual conference of the European Society of Human Genetics today (Saturday).

8 Jun 2015