Trisomy 21 News and Research

RSS

cfDNA testing lowers false positive rates and higher predictive values in general obstetric population

A study in this week's New England Journal of Medicine potentially has significant implications for prenatal testing for major fetal chromosome abnormalities. The study found that in a head-to-head comparison of noninvasive prenatal testing using cell free DNA (cfDNA) to standard screening methods, cfDNA testing (verifi- prenatal test, Illumina, Inc.) significantly reduced the rate of false positive results and had significantly higher positive predictive values for the detection of fetal trisomies 21 and 18.

From Illumina, Inc. 27 Feb 2014

Natera initiates distribution partnership with ProPath for Panorama non-invasive prenatal screening test

Natera, a leading innovator in prenatal genetic testing, today announced the initiation of a distribution partnership with ProPath, a wholly physician-owned provider of pathology services to clinicians and medical facilities in the United States, for its Panorama non-invasive prenatal screening test (NIPT).

From Natera 12 Feb 2014

BGI Health to introduce NIFTY screening test to reduce miscarriages

BGI Health is marking Baby Loss Awareness Week (9-15 October) with the launch of a new non-invasive screening test for Down’s Syndrome and other conditions, which can reduce the risk of miscarriage significantly compared with other, potentially unnecessary invasive procedures, according to recent studies.

1 Oct 2013

DASA Group to offer Natera's non-invasive prenatal test for detection of genetic syndromes

DASA Group and Natera today announced that DASA Group will begin offering Natera's non-invasive prenatal test Panorama for the detection of genetic syndromes common in the population, such as trisomy 21 (Down syndrome), trisomy 13 (Patau Syndrome ), trisomy 18 (Edwards syndrome) and monosomy X (Turner syndrome).

From Natera 8 Aug 2013

Discovery provides evidence that genetic defect responsible for Down syndrome can be suppressed

Scientists at the University of Massachusetts Medical School are the first to establish that a naturally occurring X chromosome "off switch" can be rerouted to neutralize the extra chromosome responsible for trisomy 21, also known as Down syndrome, a genetic disorder characterized by cognitive impairment.

18 Jul 2013

UNIGE researchers identify genomic variations associated with trisomy 21

Down syndrome, more commonly known as "trisomy 21" is very often accompanied by pathologies found in the general population: Alzheimer's disease, leukemia, or cardiac deficiency.

28 Jun 2013

Study: Non-invasive blood test could reshape standards in prenatal testing

New research has found that routine screening using a non-invasive test that analyzes fetal DNA in a pregnant woman's blood can accurately detect Down's syndrome and other genetic fetal abnormalities in the first trimester. Published early online in Ultrasound in Obstetrics & Gynecology, the results suggest that the test is superior to currently available screening strategies and could reshape standards in prenatal testing.

10 Jun 2013

Echevarne to distribute Natera's non-invasive prenatal screening test in Spain

Natera, a leading innovator in prenatal genetic testing, and Echevarne, a leading clinical analysis laboratory in Spain, today announced the signing of a distribution agreement for Echevarne to offer Natera's non-invasive prenatal screening test, Panorama, through its facilities in Spain.

From Natera 15 May 2013

High levels of blood cholesterol increase risk of AD and heart disease

Researchers at the Linda Crnic Institute for Down Syndrome and the University of Colorado School of Medicine have found that a single mechanism may underlie the damaging effect of cholesterol on the brain and on blood vessels.

16 Apr 2013

Non-invasive prenatal genetic screening: an interview with Dr. Charles Strom, Senior Medical Director, Quest Diagnostics

A new category of non-invasive genetic screening tests is gaining a great deal of interest in the medical field – including from Quest Diagnostics -- for its potential to help screen women during pregnancy for genetic abnormalities known as trisomies, the most common of which is Down syndrome.

From Quest Diagnostics 13 Mar 2013

Quest Diagnostics offers access to a new non-invasive prenatal test developed by Natera

Quest Diagnostics (NYSE:DGX), the world’s leading diagnostic information services company, and Natera, a leading innovator in prenatal genetic testing, today announced that Quest Diagnostics will offer physicians access to Panorama™, a new non-invasive prenatal test developed by Natera.

From Quest Diagnostics 21 Feb 2013

Ultrasound signs can predict Down’s syndrome

Ultrasound markers that can be detected in the second trimester of pregnancy are strongly predictive for Down’s syndrome, show findings from a systematic review and meta-analysis.

4 Feb 2013

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

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

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

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

Verinata Health to present two key studies on verifi prenatal test at ISPD conference

Verinata Health, Inc., a privately-held company dedicated to maternal and fetal health, today announced that physicians across the country are now using the verifi prenatal test.

1 Jun 2012

Prenatal Diagnosis publishes Sequenom CMM’s MaterniT21 PLUS LDT clinical study

Sequenom, Inc., a life sciences company providing innovative genetic analysis solutions, today announced that a new publication from the large Women & Infants multi-center clinical study on the Sequenom Center for Molecular Medicine's (Sequenom CMM) MaterniT21 PLUS laboratory-developed test (LDT) has been published online in the peer-reviewed journal, Prenatal Diagnosis.

19 May 2012

LifeCodexx completes PraenaTest clinical study on trisomy 21

LifeCodexx today announced the successful completion of the clinical validation study of its noninvasive test method for the detection of fetal trisomy 21 from maternal blood using Next Generation sequencing.

2 May 2012

DSG's eCaseLink EDC chosen for Ariosa's Non-Invasive Chromosomal Examination of Trisomy study

Ariosa Diagnostics, a molecular diagnostics company focused on prenatal testing, has chosen to use DSG's eCaseLink EDC (electronic data capture) system for the NEXT (Non-Invasive Chromosomal Examination of Trisomy) study.

23 Apr 2012