Noninvasive method accurately and efficiently detects risk of Down syndrome, researchers say

ScienceDaily (Feb. 21, 2012) ? Using a noninvasive test on maternal blood that deploys a novel biochemical assay and a new algorithm for analysis, scientists can detect, with a high degree of accuracy, the risk that a fetus has the chromosomal abnormalities that cause Down syndrome and a genetic disorder known as Edwards syndrome. The new approach is more scalable than other recently developed genetic screening tests and has the potential to reduce unnecessary amniocentesis or CVS.

Two studies evaluating this approach are available online in advance of publication in the April issue of the American Journal of Obstetrics & Gynecology (AJOG).

Diagnosis of fetal chromosomal abnormalities, or aneuploidies, relies on invasive testing by chorionic villous sampling or amniocentesis in pregnancies identified as high-risk. Although accurate, the tests are expensive and carry a risk of miscarriage. A technique known as massively parallel shotgun sequencing (MPSS) that analyzes cell-free DNA (cfDNA) from the mother's plasma for fetal conditions has been used to detect trisomy 21 (T21) pregnancies, those with an extra copy of chromosome 21 that leads to Down syndrome, and trisomy 18 (T18), the chromosomal defect underlying Edwards syndrome. MPSS accurately identifies the conditions by analyzing the entire genome, but it requires a large amount of DNA sequencing, limiting its clinical usefulness.

Scientists at Aria Diagnostics in San Jose, CA developed a novel assay, Digital Analysis of Selected Regions (DANSR?), which sequences loci from only the chromosomes under investigation. The assay requires 10 times less DNA sequencing than MPSS approaches.

In the current study, the researchers report on a novel statistical algorithm, the Fetal-fraction Optimized Risk of Trisomy Evaluation (FORTE?), which considers age-related risks and the percentage of fetal DNA in the sample to provide an individualized risk score for trisomy. Explains author Ken Song, MD, "The higher the fraction of fetal cfDNA, the greater the difference in the number of cfDNA fragments originating from trisomic versus disomic [normal] chromosomes and hence the easier it is to detect trisomy. The FORTE algorithm explicitly accounts for fetal fraction in calculating trisomy risk."

To test the performance of the DANSR/FORTE assay, Dr. Song and his colleagues evaluated a set of subjects consisting of 123 normal, 36 T21, and 8 T18 pregnancies. All samples were assigned FORTE odd scores for chromosome 18 and chromosome 21. The combination of DANSR and FORTE correctly identified all 36 cases of T21 and 8 cases of T18 as having a greater than 99% risk for each trisomy in a blinded analysis. There was at least a 1,000 fold magnitude separation in the risk score between trisomic and disomic samples.

In a related study, researchers from the Harris Birthright Research Centre for Fetal Medicine, Kings College Hospital, University of London and the University College London Hospital, University College London, provided 400 maternal plasma samples to Aria for analysis using the DANSR assay with the FORTE algorithm. The subjects were all at risk for aneuploidies, and they had been tested by chorionic villous sampling. The analysis distinguished all cases of T21 and 98% of T18 cases from euploid pregnancies. In all cases of T21, the estimated risk for this aneuploidy was greater than or equal to 99%, whereas in all normal pregnancies and those with T18, the risk score for T21 was less than or equal to 0.01%.

"Combining the DANSR assay with the FORTE algorithm provides a robust and accurate assessment of fetal trisomy risk," says Dr. Song. "Because DANSR allows analysis of specific genomic regions, it could be potentially used to evaluate genetic conditions other than trisomy. The incorporation of additional risk information, such as from ultrasonography, into the FORTE algorithm warrants investigation."

Kypros H. Nicolaides, MD, senior author of the University of London study, suggests that fetal trisomy evaluation with cfDNA testing will inevitably be introduced into clinical practice. "It would be useful as a secondary test contingent upon the results of a more universally applicable primary method of screening. The extent to which it could be applied as a universal screening tool depends on whether the cost becomes comparable to that of current methods of sonographic and biochemical testing."

Dr. Nicolaides also notes that the plasma samples were obtained from high-risk pregnancies where there is some evidence of impaired placental function. It would also be necessary to demonstrate that the observed accuracy with cfDNA testing obtained from the investigation of pregnancies at high-risk for aneuploidies is applicable to the general population where the prevalence of fetal trisomy 21 is much lower. "This may well prove to be the case because the ability to detect aneuploidy with cfDNA is dependent upon assay precision and fetal DNA percentage in the sample rather than the prevalence of the disease in the study population," he concludes.

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The above story is reprinted from materials provided by Elsevier Health Sciences.

Note: Materials may be edited for content and length. For further information, please contact the source cited above.

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Journal References:

1. Andrew B. Sparks, Craig A. Struble, Eric T. Wang, Ken Song, Arnold Oliphant. Non-invasive Prenatal Detection and Selective Analysis of Cell-free DNA Obtained from Maternal Blood: Evaluation for Trisomy 21 and Trisomy 18. American Journal of Obstetrics and Gynecology, 2012; DOI: 10.1016/j.ajog.2012.01.030
2. Ghalia Ashoor, Argyro Syngelaki, Marion Wagner, Cahit Birdir, Kypros H. Nicolaides. Chromosome-selective sequencing of maternal plasma cell-free DNA for first-trimester detection of trisomy 21 and trisomy 18. American Journal of Obstetrics and Gynecology, 2012; DOI: 10.1016/j.ajog.2012.01.029

Note: If no author is given, the source is cited instead.

Disclaimer: This article is not intended to provide medical advice, diagnosis or treatment. Views expressed here do not necessarily reflect those of ScienceDaily or its staff.

Source: http://www.sciencedaily.com/releases/2012/02/120221125151.htm

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Selecting Vital Small Business Payroll Software | Athlete

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Source: http://fischerspiel.de/2012/02/selecting-vital-small-business-payroll-software/

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Greece to get $170B bailout, reduce debt

Greek Finance Minister Evangelos Venizelos, left, shakes hands with German Finance Minister Wolfgang Schaeuble during a round table meeting of eurozone finance ministers at the EU Council building in Brussels on Monday, Feb. 20, 2012. Eurozone governments will likely approve on Monday a long-elusive rescue package for Greece, saving it from a potentially calamitous bankruptcy next month, senior officials said. But finance ministers meeting in Brussels will have a few last issues to wrangle over, such as tighter controls over Greece's spending and further cuts to the country's debt load. (AP Photo/Yves Logghe)

Greek Finance Minister Evangelos Venizelos, left, shakes hands with German Finance Minister Wolfgang Schaeuble during a round table meeting of eurozone finance ministers at the EU Council building in Brussels on Monday, Feb. 20, 2012. Eurozone governments will likely approve on Monday a long-elusive rescue package for Greece, saving it from a potentially calamitous bankruptcy next month, senior officials said. But finance ministers meeting in Brussels will have a few last issues to wrangle over, such as tighter controls over Greece's spending and further cuts to the country's debt load. (AP Photo/Yves Logghe)

Greek Prime Minister Lucas Papademos, left, speaks with Luxembourg's Prime Minister Jean-Claude Juncker, center, during a round table meeting of eurozone finance ministers at the EU Council building in Brussels on Monday, Feb. 20, 2012. Eurozone governments will likely approve on Monday a long-elusive rescue package for Greece, saving it from a potentially calamitous bankruptcy next month, senior officials said. But finance ministers meeting in Brussels will have a few last issues to wrangle over, such as tighter controls over Greece's spending and further cuts to the country's debt load. (AP Photo/Yves Logghe)

Greek Finance Minister Evangelos Venizelos, left, speaks with French Finance Minister Francois Baroin, center, and Luxembourg's Finance Minister Luc Frieden during a round table meeting of eurozone finance ministers at the EU Council building in Brussels on Monday, Feb. 20, 2012. Eurozone governments will likely approve on Monday a long-elusive rescue package for Greece, saving it from a potentially calamitous bankruptcy next month, senior officials said. But finance ministers meeting in Brussels will have a few last issues to wrangle over, such as tighter controls over Greece's spending and further cuts to the country's debt load. (AP Photo/Yves Logghe)

The euro sign is seen on the side of the building of EU headquarters in Brussels on Monday, Feb. 20, 2012. Leaders from Germany, Italy and Greece have said they are optimistic that the deal on a second massive bailout for Athens can be clinched at a meeting of EU finance ministers on Monday after months of delay, but critics have expressed doubts over Greek political leaders' commitment to austerity and there are still difficult details to be ironed out. (AP Photo/Virginia Mayo)

Managing Director of the International Monetary Fund Christine Lagarde speaks with the media as she arrives for a meeting of eurozone ministers at the EU Council building in Brussels on Monday, Feb. 20, 2012. Eurozone governments will likely approve on Monday a long-elusive rescue package for Greece, saving it from a potentially calamitous bankruptcy next month, senior officials said. But finance ministers meeting in Brussels will have a few last issues to wrangle over, such as tighter controls over Greece's spending and further cuts to the country's debt load. (AP Photo/Virginia Mayo)

BRUSSELS (AP) ? After more than 12 hours of talks, the countries that use the euro reached an agreement early Tuesday to hand Greece euro130 billion ($170 billion) in additional bailout loans to save it from a potentially disastrous default next month.

The deal is expected to bring Greece's debt down to 120.5 percent of gross domestic product by 2020 ? that's around the maximum that the International Monetary Fund and the eurozone consider sustainable.

The euro surged as the news of a deal broke early Tuesday. The accord should take some pressure off the 17-country currency union that has been battling a serious debt crisis for two years.

Without the deal, Greece was facing a potentially calamitous default next month and possibly being forced from the eurozone. The talks stretched into the early hours of Tuesday as ministers wrangled over how to cut Greece's debt to a level that it could eventually pay back while not raising their own commitments.

In the end, the country's private creditors were asked to take substantially more losses on their holdings than previously anticipated, cutting Greece's debt by an estimated euro107 billion.

"It's no exaggeration to say that today is a historic day for the Greek economy," said Greek Premier Lucas Papademos, who rushed to the meeting to lend weight to his country's pleas for help.

Jean-Claude Juncker, the prime minister of Luxembourg who also chairs the meetings of eurozone finance ministers, said Greece's private investors ? mostly banks and investment funds ? have been asked to take a face value loss of 53.5 percent on their bonds.

On top of that, Greece's public creditors ? central banks and the eurozone countries ? also agreed to give Greece a break on its debt.

The eurozone countries will cut the interest that Greece has to pay for its first package of bailout loans to 1.5 percentage points over market rates from between 2 percentage points to 3 percentage points currently, cutting both its debt load and limiting the need for new rescue loans.

At the same time, the European Central Bank and the national central banks in the 17 countries that use the euro will also forego profits on their Greek debt holdings, again reducing the costs for Greece.

EU economic affairs commissioner Olli Rehn says Greece's new compliance with the terms of a new bailout will be ensured by a separate account containing enough money service its debt for three months.

That close monitoring was demanded by some members of the eurozone who are frustrated that Greece has not always enacted painful reforms and budget cuts on time.

___

Associated Press writer Don Melvin contributed to this report.

Associated Press

Source: http://hosted2.ap.org/APDEFAULT/cae69a7523db45408eeb2b3a98c0c9c5/Article_2012-02-21-EU-Europe-Financial-Crisis/id-94576f0b9ec2467db39ba82c8119e511

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BRICs no less vulnerable to global risks (Reuters)

[unable to retrieve full-text content]Reuters - BRIC countries have not become less vulnerable to global shocks despite their strong economic growth over the past four years, a survey showed on Monday.

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Advantages of Utilizing BMI to Shed weight | New Health and Fitness

[unable to retrieve full-text content]Advantages of Utilizing BMI to Shed weight. New Health And Fitness.Org - Health Information You Can Use. Body Mass Index or BMI is a measurement that can help compute someone's weight ratio relative to that person's ...

Source: http://newhealthandfitness.org/2012/02/18/advantages-of-utilizing-bmi-to-shed-weight/

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Obama campaign adviser says Santorum crossed line (AP)

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AP - An adviser to President Barack Obama's re-election campaign says GOP presidential candidate Rick Santorum went "well over the line" when he questioned Obama's Christian values.

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