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New method may extend use of noninvasive prenatal testing to detect chromosomal abnormalities

New method may extend use of noninvasive prenatal testing to detect chromosomal abnormalities

Researchers at the University of California, San Diego School of Medicine developed a method to expand the types of chromosomal abnormalities that noninvasive prenatal testing (NIPT) can detect. The study, published November 9 by Proceedings of the National Academy of Sciences, uses a semiconductor sequencing platform to identify small chromosomal deletions or duplications, such as occur in Cri du Chat Syndrome and DiGeorge Syndrome, with a simple blood test from the expectant mother. [More]
Simple, low risk blood test can detect foetal blood group and genetic conditions in unborn babies

Simple, low risk blood test can detect foetal blood group and genetic conditions in unborn babies

Research into a simple, accurate and low risk blood test that can detect foetal blood group, sex, and genetic conditions in unborn babies has been published in the international scientific journal, Clinical Chemistry. [More]
Testing amniotic fluid could guide doctors to make delivery planning decisions for preterm births

Testing amniotic fluid could guide doctors to make delivery planning decisions for preterm births

Analyzing gene expression of an expectant mother's amniotic fluid could give doctors an important tool for deciding when it is safe to deliver premature babies. [More]
DNA testing for Down's syndrome could potentially save lives of unborn babies

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. [More]
Study suggests potential way to predict autism or psychosis risk in children with genetic abnormality

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. [More]
New prenatal test introduced for detecting Down’s Syndrome

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. [More]
Position statement on promise, challenges of non-invasive prenatal testing

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

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. [More]
BGI issued patent for non-invasive prenatal genetic test technology

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. [More]
Women better informed about prenatal genetic testing choose fewer tests

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. [More]

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. [More]
CareFusion launches ChloraPrep 1 mL applicator

CareFusion launches ChloraPrep 1 mL applicator

CareFusion, a leading global medical technology company, today announced the launch of its ChloraPrep® 1 mL applicator, the newest addition to the ChloraPrep line of preoperative skin preparation products. [More]
Exposure to elevated levels of steroid hormones in the womb linked to later development of autism

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. [More]
cfDNA testing lowers false positive rates and higher predictive values in general obstetric population

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. [More]
Study: Noninvasive prenatal testing detects 83.2% of chromosomal abnormalities

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. [More]
LUHS offers highly accurate prenatal test to determine chromosomal abnormalities in fetus

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. [More]
Study: Clinicians' decision making could be affected by method of conception

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. [More]
Studies suggest infusion of blood vessel cells may contribute to organ regeneration in future

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. [More]
BGI Health to introduce NIFTY screening test to reduce miscarriages

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. [More]
Clinical study to investigate effects of prenatal chromosomal abnormalities through microarray analysis

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. [More]
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