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:2/24/2017)... Pekin, IL (PRWEB) , ... February 24, 2017 , ... ... in the 7th annual “Imagine Me Beyond What You See” body image mannequin art ... Professional’s Choice will be showcased and the winner revealed at the 31st annual iaedp ...
(Date:2/24/2017)... ... February 24, 2017 , ... Rosica ... in thought leadership , media relations, social media, content marketing and SEO, ... be powered through Act-On, an intuitive marketing automation platform. , Rosica will now ...
(Date:2/23/2017)... ... February 23, 2017 , ... ... partnership with The Jensie Gran Fondo of Marin. For the second year in ... Thinksport’s broad-spectrum, mineral-based sunscreen. , “We are thrilled to provide our safe, non-toxic ...
(Date:2/23/2017)... ... February 23, 2017 , ... The Lymphoma Research ... lymphoma research and serving the lymphoma community through a comprehensive series of education ... Country Club in Miami Beach to host its Swirl: Miami Wine Tasting Event ...
(Date:2/23/2017)... Los Angeles, CA (PRWEB) , ... February 23, 2017 , ... ... the first two episodes of WE TV’s “Mama June: From Not to Hot,” which ... of TV notable, “Mama” June Shannon, known to millions from the 2012 reality television ...
Breaking Medicine News(10 mins):
(Date:2/24/2017)... 23, 2017 Report analyzes the worldwide markets for ... analytics for the US, Canada , ... Asia-Pacific , Latin America , ... for the period 2015 through 2022. Also, a six-year historic ... are derived from primary and secondary research. Company profiles are ...
(Date:2/24/2017)... from Pharma To Market Pty Ltd and Ador Consulting Pte Ltd ... founding of Pharma To Market Pte Ltd, based in ... announce their expansion into Asia with the ... company are delighted to appoint Joelle Chia , former owner ... based entity. Joelle brings with her an extensive business network ...
(Date:2/24/2017)... YORK , Feb. 23, 2017  The ... 330.6 million by 2021 from USD 275.9 million ... Read the full report: http://www.reportlinker.com/p04718602-summary/view-report.html ... increasing spending on pharmaceutical R&D, and growth in ... driving the market growth for particle counters. On ...
Breaking Medicine Technology: