Triple X Syndrome News and Research

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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

Non-invasive prenatal testing for Down's syndrome acceptable to parents

Non-invasive prenatal testing (NIPT) for Down's syndrome is feasible, acceptable to parents, and could be introduced into the National Health Service, UK researchers say. The results of a National Institute for Health Research study carried out by the first NHS laboratory to provide NIPT testing will be reported to the annual conference of the European Society of Human Genetics today (Saturday).

8 Jun 2015

Non-invasive prenatal testing can detect maternal cancer at early stage

Non-invasive prenatal testing (NIPT) for chromosomal foetal disorders is used increasingly to test for conditions such as Down's syndrome. NIPT examines DNA from the foetus in the mother's blood, and therefore does not carry the risk of miscarriage involved in invasive testing methods.

7 Jun 2015

Natera, LifeLabs sign new agreement for non-invasive prenatal testing in Canada

Natera, Inc., a global leader in non-invasive genetic testing, and LifeLabs Medical Laboratory Services today announced a new agreement that gives LifeLabs the rights to perform non-invasive prenatal testing (NIPT) in Canada using Natera technology.

From Natera 25 Apr 2015

Findings of Ariosa's non-invasive prenatal testing study published online in NEJM

Results from the largest clinical trial to date, comparing non-invasive prenatal testing (NIPT) using the Harmony Prenatal Test with conventional first trimester combined screening (FTS) in a general pregnancy population have been published online in The New England Journal of Medicine.

6 Apr 2015

Researchers analyze false-positive results from new prenatal genetic screens

Prenatal blood screening for extra or missing chromosomes in the fetus might give false-positive results if the mother's genome contains more than the usual number of certain DNA segments.

6 Apr 2015

LifeCodexx announces promising results from proof-of-principle study of qPCR-based NIPT assay

LifeCodexx AG today reports the successful outcome of a proof-of-principle of its novel assay for non-invasive prenatal testing (NIPT assay) based on quantitative real-time PCR (qPCR). This NIPT assay, designed to determine fetal aneuploidies from maternal blood, will offer significant advantages, such as enhanced test performance at affordable prices, over other prenatal examination methods.

27 Mar 2015

BGI study tracks accuracy of NIFTY prenatal test

BGI has published a study tracking the clinical performance of its whole genome sequencing-based non-invasive prenatal test (the NIFTY test) in nearly 147,000 pregnancies, the largest such study to date. The results showed high sensitivity and specificity and no significant difference between high-risk and low-risk pregnant women.

6 Feb 2015

Cell-free fetal DNA testing more effective in detecting Down syndrome

Cell-free fetal DNA testing, which measures the relative amount of free fetal DNA in a pregnant woman's blood, is a new screening test that indicates the risk of Down syndrome (trisomy 21), Edward syndrome (trisomy 18), and Patau syndrome (trisomy 13).

3 Feb 2015

BGI Diagnostics develops ‘education hub’ to raise awareness about non-invasive prenatal testing

provider of accurate, reliable and affordable genetic tests and molecular diagnostics services has demonstrated its commitment to raising awareness about non-invasive prenatal testing (NIPT) by developing a dedicated ‘education hub’ as part of its new, highly informative website.

12 Dec 2014

Epizyme presents EPZ-5676 Phase 1 trial results for acute leukemia at ASH 2014

Epizyme, Inc., a clinical stage biopharmaceutical company creating innovative personalized therapeutics for patients with genetically defined cancers, announced today the presentation of results from the company’s Phase 1 trial of EPZ-5676, a potent and selective inhibitor of the DOT1L histone methyltransferase (HMT).

10 Dec 2014

Decision-support guide for prenatal genetic testing, no cost for testing result in less prenatal test use

An intervention for pregnant women that included a computerized, interactive decision-support guide regarding prenatal genetic testing, and no cost for testing, resulted in less prenatal test use and more informed choices, according to a study in the September 24 issue of JAMA.

24 Sep 2014

Sequenom's total revenues increase 62% to $39.8 million in Q2 2014

Sequenom, Inc., a life sciences company providing innovative genetic analysis solutions, today reported total revenues of $39.8 million for the second quarter of 2014, an increase of 62% compared to revenues of $24.5 million for the second quarter of 2013.

From Quest Diagnostics 29 Jul 2014

Computational biologists develop program for easy diagnosis of hereditary illnesses

In the case of a cough or a sore throat, the doctor can usually diagnose a common cold immediately. However, the diagnosis of hereditary illnesses like cystic fibrosis, which affects the metabolism, or Huntington's disease, which leads to cognitive decline, is much more complex.

29 Jul 2014

NIFTY test becomes first CFDA approved NIPT based on Next Generation Sequencing Technology

BGI Diagnostics' NIFTY™ test becomes First NIPT based on Next Generation Sequencing Technology to be Approved by the China Food and Drug Administration (CFDA).

7 Jul 2014

Sequenom signs national agreement to provide MaterniT21 PLUS LDT

Sequenom, Inc., a life sciences company providing innovative testing and genetic analysis solutions, announced today its wholly owned subsidiary, Sequenom Laboratories, has signed a national agreement with a leading health insurance company covering 13 million people throughout the United States, to provide the MaterniT21™ PLUS laboratory-developed test (LDT).

9 Jun 2014

Study sheds light on how extra chromosome 21 upsets equilibrium of entire genome in Down syndrome

Occurring in about one per eight hundred births, Down syndrome - or trisomy 21 - is the most frequent genetic cause of intellectual disability. It results from a chromosomal abnormality where cells of affected individuals contain a third copy of chromosome 21 (1% of the human genome).

18 Apr 2014

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