Navigation Links
Study finds massively parallel sequencing can detect fetal aneuploidies, including Down syndrome
Date:2/9/2012

DALLAS (February 10, 2012) In a study to be presented today at the Society for Maternal-Fetal Medicine's annual meeting, The Pregnancy Meeting , in Dallas, Texas, researchers will report findings that indicate that massively parallel sequencing can be used to diagnose fetal aneuploidies, including Down syndrome, Edwards syndrome, Patau syndrome and Turner syndrome.

Because of the importance of the clinical data, the abstract, entitled Genome Wide Fetal Aneuploidy Detection by Sequencing of Maternal Plasma DNA: Diagnostic Accuracy in a Prospective, Blinded, Multicenter Study, was given late-breaker status. The study demonstrated that it was possible to use massively parallel sequencing of maternal plasma DNA in combination with a proprietary algorithm to detect the three most prevalent fetal aneuploidies (an abnormal number of chromosomes in the fetus). With this clinical evidence, this prenatal test may be incorporated into routine prenatal care.

"This is the first prospective, multicenter, blinded clinical study to demonstrate detection of all fetal aneuploidies across the genome. It demonstrates the efficacy of massively parallel sequencing of maternal plasma DNA with optimized normalization," said Diana W. Bianchi, M.D., of the Mother Infant Research Institute at Tufts Medical Center, Boston, Mass., the study's presenting author. "Our sample included 2,882 women undergoing prenatal diagnostic procedures at 60 different U.S. locations. Importantly, this study is representative of clinical practice, by taking into account and reporting results from all whole chromosome aneuploidies."

The study correctly identified 89 of 89 cases of trisomy 21 (Down syndrome) with 100 percent sensitivity and specificity, and had a 100 percent positive predictive value for the three most common autosomal aneuploidies, trisomies 21, 18, and 13. The study also detected monosomy X (Turner syndrome) and other chromosome aneuploidies such as trisomies 16 and 20. This approach, if incorporated into prenatal care, will require far fewer invasive procedures to diagnose fetal aneuploidy.

In addition to Bianchi, the study was conducted by Lawrence Platt, David Geffen School of Medicine at UCLA, Obstetrics and Gynecology, Los Angeles, Calif.; James Goldberg, San Francisco Perinatal Associates, Prenatal Diagnosis Center, San Francisco, Calif.; Alfred Abuhamad, Eastern Virginia Medical School, Department of Obstetrics and Gynecology, Norfolk, Va.; Richard Rava, Verinata Health, Inc., Research & Development, Redwood City, Calif.; and Amy Sehnert, Verinata Health, Inc., Clinical Research, Redwood City, Calif.


'/>"/>

Contact: Vicki Bendure
vicki@bendurepr.com
202-374-9259
Society for Maternal-Fetal Medicine
Source:Eurekalert

Related medicine news :

1. Despite Treatment, Employees with Depression Generate Higher Absentee Costs, According to Thomson Reuters Study
2. American Council on Exercise (ACE) Study Reveals Kettlebells Provide Powerful Workout in Short Amount of Time
3. TV drama can be more persuasive than news program, study finds
4. Study carried out into biological risks of eating reptiles
5. Neuroimaging study may pave way for effective Alzheimers treatments
6. Study finds racial gaps continue in heart disease awareness
7. Luth Researchs IndicatorEDG(TM) Study Finds Americans Hopes of Achieving Their Dreams Are Fading
8. First blinded study of venous insufficiency prevalence in MS shows promising results
9. Soothing infants with food focus of childhood obesity study
10. People with anxiety disorder less able to regulate response to negative emotions, study shows
11. American Heart Association Rapid Access Journal Report: Study Finds Racial Gaps Continue in Heart Disease Awareness, Low Knowledge of Heart Attack Warning Signs Among Women
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:2/17/2017)... ... February 17, 2017 , ... Empowering each ... goals for each and every seminar, session and class she offers. ... different brainwave tools which help energize creativity, focus mental functions, enhance athletic focus ...
(Date:2/17/2017)... ... 2017 , ... Qualis Health, one of the nation's leading ... DecisionHealth Platinum Awards in recognition of its innovative healthcare management programs that are ... award categories, highlighting four of the organization’s current programs:, , ...
(Date:2/17/2017)... , ... February 17, 2017 , ... ... fall 2017 season , Trinity Health and the U.S. Soccer Foundation announced today ... program in underserved communities. Soccer for Success, the Foundation’s soccer mentoring program, teaches ...
(Date:2/17/2017)... ... February 17, 2017 , ... Pharmica Consulting attended ... all facets of clinical trial planning and management. Pharmica discussed the importance of ... In addition, attendees stopping by Pharmica’s booth were able to demo its cloud-based ...
(Date:2/17/2017)... ... 17, 2017 , ... Cancer diagnostics workflow solution provider Inspirata, ... – 22 in San Francisco. As part of the Tri-Conference expo, which is ... solution, as well as its new precision medicine platform, “Crosswalk Insight: Oncology™.” , ...
Breaking Medicine News(10 mins):
(Date:2/17/2017)... On Thursday, February 16, 2017, ... at the closing bell, while the Dow Jones Industrial ... Moreover, five out of nine sectors ended Thursday,s trading ... sentiment, Stock-Callers.com assessed the following Medical Appliances & Equipment ... SNN ), ABIOMED Inc. (NASDAQ: ABMD ...
(Date:2/16/2017)... 16, 2017 DaVita Inc. (NYSE: DVA ... December 31, 2016. Net income attributable to ... 2016 was $158 million, or $0.80 per share and $880 ... net income attributable to DaVita Inc. for the quarter and ... below, was $192 million, or $0.98 per share, and $789 ...
(Date:2/16/2017)...  Express Scripts (NASDAQ: ESRX ) was recognized today ... within the Health Care: Pharmacy and Other Services category. ... Most Admired Companies," said Tim Wentworth , CEO and President, ... of our 26,000 employees to make medicine more affordable and accessible ... ...
Breaking Medicine Technology: