Trisomy 21 News and Research

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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

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

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

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

Panorama SNP-based non-invasive prenatal test can detect complete molar pregnancy

Natera, Inc., a leader in non-invasive genetic testing, today announced a study published in Ultrasound in Obstetrics & Gynecology demonstrating that the Panorama single-nucleotide polymorphism (SNP)-based non-invasive prenatal test (NIPT) can identify a complete molar pregnancy in the first trimester.

From Natera 28 May 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

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 issued patent for non-invasive prenatal genetic test technology

The European Patent Office has issued patent number EP2561103B1 for invention to BGI for its independently researched non-invasive prenatal genetic test (NIPT) technology. This technology has been developed by BGI in connection with the provision of its market leading NIPT, the NIFTY test.

12 Oct 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

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