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DNA testing for Down's syndrome could potentially save lives of unborn babies

Offering pregnant women a DNA test for Down's syndrome on the NHS would reduce the dependency on invasive tests and potentially save the lives of unborn babies, a study shows.

27 Oct 2015

Study suggests potential way to predict autism or psychosis risk in children with genetic abnormality

Doctors and researchers have long known that children who are missing about 60 genes on a certain chromosome are at a significantly elevated risk for developing either a disorder on the autism spectrum or psychosis — that is, any mental disorder characterized by delusions and hallucinations, including schizophrenia. But there has been no way to predict which child with the abnormality might be at risk for which disorder.

28 Jul 2015

New prenatal test introduced for detecting Down’s Syndrome

A new prenatal test for Down’s Syndrome may be more effective at diagnosing the condition than the standard screening that is currently used, suggests a study published in the New England Journal of Medicine.

2 Apr 2015

Position statement on promise, challenges of non-invasive prenatal testing

Two of the world's largest professional societies of human geneticists have issued a joint position statement on the promise and challenges of non-invasive prenatal testing (NIPT), a new procedure to test blood drawn from pregnant mothers for Down syndrome and other chromosomal disorders in the fetus.

26 Mar 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

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

Women better informed about prenatal genetic testing choose fewer tests

A clinical trial led by UC San Francisco has found that when pregnant women are educated about their choices on prenatal genetic testing, the number of tests actually drops, even when the tests are offered with no out-of-pocket costs.

25 Sep 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

Exposure to elevated levels of steroid hormones in the womb linked to later development of autism

Scientists from the University of Cambridge and the Statens Serum Institute in Copenhagen, Denmark have discovered that children who later develop autism are exposed to elevated levels of steroid hormones (for example testosterone, progesterone and cortisol) in the womb. The finding may help explain why autism is more common in males than females, but should not be used to screen for the condition.

3 Jun 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

Study: Noninvasive prenatal testing detects 83.2% of chromosomal abnormalities

In a study to be presented on Feb. 6 at 9 a.m. CST, at the Society for Maternal-Fetal Medicine's annual meeting, The Pregnancy Meeting-, in New Orleans, researchers will report that noninvasive prenatal testing detected 83.2 percent of chromosomal abnormalities normally picked up by invasive diagnostic testing strategies, such as chorionic villus sampling (CVS) or amniocentesis.

4 Feb 2014

LUHS offers highly accurate prenatal test to determine chromosomal abnormalities in fetus

Loyola University Health System (LUHS) now offers chorionic villus sampling (CVS), a highly accurate prenatal test for chromosomal abnormalities in the fetus. Loyola is one of the few centers in the Chicago area to offer CVS.

12 Nov 2013

Study: Clinicians' decision making could be affected by method of conception

Parents who conceive through assisted reproductive technologies are likely to receive different medical advice in relation to prenatal testing than those who conceive naturally, academics have suggested.

5 Nov 2013

Studies suggest infusion of blood vessel cells may contribute to organ regeneration in future

Damaged or diseased organs may someday be healed with an injection of blood vessel cells, eliminating the need for donated organs and transplants, according to scientists at Weill Cornell Medical College.

9 Oct 2013

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

Clinical study to investigate effects of prenatal chromosomal abnormalities through microarray analysis

Reproductive genetics researchers at Columbia University Medical Center (CUMC) are leading a multicenter prospective clinical study investigating the effects of chromosomal abnormalities (duplicative or missing material) found prenatally through microarray analysis.

22 Aug 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

New ACMG statement on Noninvasive Prenatal Screening for Fetal Aneuploidy

The American College of Medical Genetics and Genomics has just released an important new Policy Statement on "Noninvasive Prenatal Screening for Fetal Aneuploidy."

9 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

Study shows effects of maternal obesity on fetuses

In a study to be presented on February 15 between 8 a.m. and 10 a.m. PST, at the Society for Maternal-Fetal Medicine's annual meeting, The Pregnancy Meeting -, in San Francisco, California, researchers from Tufts Medical Center will present findings showing the effects of maternal obesity on a fetus, specifically in the development of the brain.

11 Feb 2013