Sequenom's Non-invasive Down Syndrome test shows 100% sensitivity and 99.7% specificity in a major clinical trial

Eureka! Alliluia!
Those now if you are in your 40s and get pregnant sometime closer to the end of the year, most likely you won't need to go for the amniocentesis. Sequenom just confirmed that their non-invasive T21 test is just as accurate as the amnio, but without side effects!
Unfortunately, the company's marketing and PR department is the complete opposite of their R&D. The only mention of the test accuracy data is in their brief press release below off PR Newswire. We did not pick it up from WSJ, Bloomberg or Forbes journalists. Their CEO or CMO is not on the air or on TV. And it seems like we are the only blog covering this historic event!

SAN DIEGO, Feb. 10, 2011 /PRNewswire/ -- Sequenom (Nasdaq:SQNM - News) is very pleased to announce publication in the American Journal of Obstetrics and Gynecology (doi: 10.1016/j.ajog.2010.12.060) of Sequenom CMM's "locked assay" study.

The paper entitled "Noninvasive detection of fetal trisomy 21 by sequencing of DNA in maternal blood: a study in a clinical setting" is available through the 'Articles Online First' section of the American Journal of Obstetrics and Gynecology website – http://www.ajog.org. The article is scheduled to appear in the March issue of the journal to be published both online and in print.

Study Results

The performance of a massively parallel shotgun sequencing based assay for noninvasive detection of fetal aneuploidy was evaluated on a set of 480 plasma samples from pregnant women at high-risk for fetal chromosomal aneuploidy. Utilizing 449 samples, all 39 trisomy 21 (T21) samples were correctly identified, while one of the 410 euploid samples was misclassified as T21. The overall classification showed 100% sensitivity (95% CI: 89% to 100%) and 99.7 specificity (95% CI: 98.5% to 99%). A total of 31 samples were removed due to insufficient quantity, breakage or failing pre-specified quality control criteria.

"This important study demonstrated that massively parallel shotgun sequencing is a potentially viable path for noninvasive prenatal diagnosis of fetal Trisomy 21 and warrants its validation in a larger clinical validation study," said Harry F. Hixson, Jr. PhD, chairman and chief executive officer of Sequenom. "We are very pleased with the results from the 'locked assay' study and are looking forward to the completion of the larger clinical validation study later this year."

Sequenom Center for Molecular Medicine (Sequenom CMM) initiated its pivotal clinical validation study in late December 2010. This validation study is designed to evaluate the clinical performance of the SensiGene T21 Laboratory Developed Test (LDT) for the detection of an overabundance of chromosome 21 in maternal blood, which is associated with fetal chromosome 21 aneuploidy. Testing of the clinical specimens is being performed at the Sequenom CMM CLIA-certified facility in San Diego.

About Sequenom Center for Molecular Medicine

Sequenom Center for Molecular Medicine (Sequenom CMM®) is a CAP accredited and CLIA-certified specialty reference laboratory dedicated to the development and commercialization of laboratory-developed genetic testing services for prenatal and eye conditions. Utilizing innovative proprietary technologies, Sequenom CMM provides test results that can be used as tools by clinicians in managing patient care. Testing services are available only upon request to physicians. Sequenom CMM works closely with key opinion leaders and experts in obstetrics, retinal care and genetics. The scientists use a variety of sophisticated and cutting-edge methodologies in the development and validation of tests. Sequenom CMM is changing the landscape in genetic diagnostics. Visit http://www.scmmlab.com for more information on laboratory services.

Dennis Lo's paper on non-invasive Down's syndrome diagnostics is finally published in the British Medical Journal

The proof of concept of the test, which will be brought to market to market by the San Diego-based company Sequenom, Inc (NASDAQ: SQNM) sometime this year showed very high accuracy in a reasonably large clinical trial. We salute Dennis Lo and Sequenom on these results and hope that the tests will be launched to general public as soon as possible.
Now that we know that the test works, Sequenom has a moral duty to the pregnant women to bring it to market as soon as possible and reduce the number of unnecessary invasive procedures and resulting spontaneous abortions and damage to the fetus.

Here is a link to the story and Sequenom's press release
http://finance.yahoo.com/news/Professor-Dennis-Lo-Trisomy-prnews-709814539.html?x=0&.v=1

Press Release Source: Sequenom, Inc. On Wednesday January 12, 2011, 2:45 pm EST

SAN DIEGO, Jan. 12, 2011 /PRNewswire/ -- Sequenom (Nasdaq:SQNM - News) is very pleased to note the publication in the British Medical Journal (BMJ 2011;342:c7401) of a groundbreaking international study led by our longstanding collaborator, Professor Dennis Lo of The Chinese University of Hong Kong. Building on early work from the Lo laboratory, the present paper is the first report of a large-scale clinical study that validates a noninvasive, plasma DNA-based approach for prenatally detecting Down's syndrome (T21). Sequenom congratulates the research team for their achievements.

(Logo: http://photos.prnewswire.com/prnh/20040415/SQNMLOGO)

About Sequenom

Sequenom, Inc. (NASDAQ:SQNM - News) is a life sciences company committed to improving healthcare through revolutionary genetic analysis solutions. Sequenom develops innovative technology, products and diagnostic tests that target and serve discovery and clinical research, and molecular diagnostics markets. The company was founded in 1994 and is headquartered in San Diego, California. Sequenom maintains a Web site at http://www.sequenom.com to which Sequenom regularly posts copies of its press releases as well as additional information about Sequenom. Interested persons can subscribe on the Sequenom Web site to email alerts or RSS feeds that are sent automatically when Sequenom issues press releases, files its reports with the Securities and Exchange Commission or posts certain other information to the Web site.

31st meeting of the Society for Maternal-Fetal Medicine will be in San Francisco February 7-12

https://www.smfm.org/Upcoming%20Events%20Page.cfm?ht=me

Name:

31st Annual Meeting
The Pregnancy MeetingTM
Date: February 7, 2011 - February 12, 2011
Location: Hilton San Francisco Union Square
333 O'Farrell St.
San Francisco, CA
415-771-1400
Use Group Code: SFM to get the special SMFM rate. Use the link below for online reservations.
www.HILTON.com
Description: The SMFM 31st Annual Meeting will present cutting-edge basic, clinical, and epidemiological research. In addition to oral and poster presentations, attendees will hear from world-renowned leaders in the specialty of maternal-fetal medicine.
Attachments: 2011 Exhibitor Prospectus
EXHIBIT SPACE for the SMFM 2011 ANNUAL MEETING is SOLD OUT.

31st Annual Meeting Preliminary Program
Click on the link above to download a PDF of the meeting brochure.

2011 Poster Instructions
Please click on the link above to download a PDF of the 2011 SMFM poster presentation instructions.
2011 Scientific Forum Agendas
Click on the link above to download a PDF file of the 2011 Scientific Forum Agendas.
AJOG SMFM Manuscript Submission Instructions
Please click on the link above to down load a PDF of the AJOG SMFM Manuscript Submission Guidelines.
Exhibit Floor Plan
Please click on the link above to download the 2011 exhibit floor plan. For more information on 2011 Exhibits, please click here.
On-site Registration form
Please click on the link above to download the on-site meeting registration form.

Shocking truth revealed by testing the pregnant women in the US

An article published at Science Daily reveals shocking news:

99% of Pregnant Women in US Test Positive for Multiple Chemicals Including Banned Ones, Study Suggests

nalyzing data for 163 chemicals, researchers detected polychlorinated biphenyls (PCBs), organochlorine pesticides, perfluorinated compounds (PFCs), phenols, polybrominated diphenyl ethers (PBDEs), phthalates, polycyclic aromatic hydrocarbons (PAHs) and perchlorate in 99 to 100 percent of pregnant women. Among the chemicals found in the study group were PBDEs, compounds used as flame retardants now banned in many states including California, and dichlorodiphenyltrichloroethane ( DDT), an organochlorine pesticide banned in the United States in 1972.

Bisphenol A (BPA), which makes plastic hard and clear, and is found in epoxy resins that are used to line the inside of metal food and beverage cans, was identified in 96 percent of the women surveyed. Prenatal exposure to BPA has been linked to adverse health outcomes, affecting brain development and increasing susceptibility to cancer later in life, according to the researchers.

Findings will be published in Environmental Health Perspectives on Jan. 14.


http://www.sciencedaily.com/releases/2011/01/110114081653.htm?utm_source=feedburner&utm_medium=feed&utm_campaign=Feed%3A+sciencedaily+%28ScienceDaily%3A+Latest+Science+News%29&utm_content=Google+Feedfetcher

The role of Oxytocin in Childhood Memories

One interesting article at Science Daily today. It is not directly related to prenatal diagnostics, but will be interesting to anyone in the field.

http://www.sciencedaily.com/releases/2010/11/101129152433.htm?utm_source=feedburner&utm_medium=feed&utm_campaign=Feed%3A+sciencedaily+%28ScienceDaily%3A+Latest+Science+News%29&utm_content=Google+Feedfetcher

Researchers have found that the naturally-occurring hormone and neurotransmitter oxytocin intensifies men's memories of their mother's affections during childhood. The study was published November 29 in Proceedings of the National Academy of Sciences.

Researchers at the Seaver Autism Center for Research and Treatment at Mount Sinai School of Medicine wanted to determine whether oxytocin, a hormone and neurotransmitter that is known to regulate attachment and social memory in animals, is also involved in human attachment memories. They conducted a randomized, double-blind, placebo-controlled, cross-over trial, giving 31 healthy adult men oxytocin or a placebo delivered nasally on two occasions. Prior to administering the drug/placebo, the researchers measured the men's attachment style. About 90 minutes after administering the oxytocin or the placebo the researchers assessed participants' recollection of their mother's care and closeness in childhood.

Lana & Dave Aprey's Better Baby Book is coming to stores near you!

Dave Asprey and his wife Lana, The Karolinska Institute-trained MD, launched the BetterBabyBook.com website to promote their book on prenatal, perinatal and neonatal baby nutrition, excersise and education to nurture better, smarter and autism-free kids. They also launched the betterbabyblog.com.
I am waiting eagerly for this book to come out.

Daily Telegraph & Foxnews articles on cost-effective DS diagnostics

Interesting article in the Telegraph UK recently on DS diagnostics on June 30 using fetal DNA. They believe that the test would cost as low as 30 GBP... Unlikely, but...
Foxnews publishes a follow up story based on the Telegraph article. Now they believe the test will cost $36 and start talking about pro-life concerns....

Original Daily Telegraph article (http://www.telegraph.co.uk/health/healthnews/7862624/Blood-test-for-Downs-syndrome.html):

Researchers hope it will provide a better alternative to invasive tests which give an accurate result, but raise the risk of the mother suffering a miscarriage.

They hope to have the test available within four years and have suggested it may eventually cost as little as £30 per patient.

The new test works by extracting the DNA of the foetus from the mother's blood and screening it for Down's syndrome and other abnormalities.

At present, pregnant women are given the odds on whether they are carrying a child with Down's syndrome, and if they want to know for certain they have to undergo one of two invasive processes; either amniocentesis or chorionic villus sampling. The first involves taking a sample of fluid from around the foetus and can, in some cases, cause a miscarriage even if the woman is carrying a healthy foetus. The second requires taking a fragment of the placenta.

The new test involves the same equipment needed for amniocentesis testing, but uses blood instead of amniotic fluid and is not invasive.

So far, researchers have been able to prove the technique works in principle and have described the results as “promising”. They hope to use the same method to detect other abnormalities in an unborn child’s DNA such as Edwards’ syndrome, which causes structural malformations in the foetus, and Patau’s syndrome, which can result in severe physical and mental impairment and is often fatal.

It could also be used to screen for muscular dystrophy and haemophilia.

Research on the new test began in 2009 and is ongoing. To date it has involved 21 women who have had pregnancy terminations or pre-natal diagnosis and screening procedures. Dr Suzanna Frints, of Maastricht University Medical Centre in the Netherlands, who carried out the research, said she hoped all women in the world would eventually be offered the test.

She said the next phase of development would need to involve more women to establish the accuracy of the test.

“Although we need to test and refine this technique further our results so far are promising,” she said.

“When we succeed in developing the procedure for use in maternal blood we will be able to offer a safe, cheap, fast, reliable and accurate non-invasive test, which will be of immediate benefit to pregnant women, young and old, all over the world.” Down’s syndrome is a genetic abnormality that affects around one in 1,000 babies born in the UK – about 750 babies a year – and is the most common cause of learning disability.

Prof Stephen Robson, spokesman for the Royal College of Obstetrics and Gynaecology, said there was an ''enormous research effort’’ going into finding the ''holy grail’’ of a non-invasive test for Down’s syndrome.

Ultrasound scans of the baby at 12 or 13 weeks and again at around 20 weeks will still be necessary to detect other abnormalities in the foetus as well as check age and growth.




Foxnews follow up (http://www.foxnews.com/printer_friendly_story/0,3566,595705,00.html):

A simple blood test may one day become a safer alternative for checking if an unborn baby has Down syndrome or other disorders, the Daily Telegraph reported.

The test, which takes a blood sample from a pregnant woman to examine the DNA of the fetus, would cost as little as $36, and could be available within four years, according to the report.

It would provide an inexpensive and much less invasive way to detect many genetic abnormalities in fetuses, but it also raises concerns among pro-life advocates who say it could result in more abortions.

“If it might more conclusively prevent false positives, it might have some benefit, but it will also likely lead to more abortions of children with disabilities,” Mailee Smith, staff counsel for Americans United for Life, told FoxNews.com.

The tests currently used to determine if an unborn child has Down syndrome are both quite invasive. One is an amniocentesis, where doctors extract amniotic fluid from around the fetus. The other is a procedure known as chorionic villus sampling, which involves the removal of a small piece of placenta tissue. Researchers hope the new test will become a safer alternative to the current procedures, which are highly accurate, but raise the mother’s risk of suffering a miscarriage.

Dr. Brian Skotko, a physician at the Children's Hospital Boston who is on the board of directors of the National Down Syndrome Society, told FoxNews.com that many doctors aren't adequately trained to counsel women on having children with Down syndrome, and worse, some who diagnose an expecting couple's child with Down syndrome encourage them to terminate the pregnancy.

"The age is swiftly coming where not all possible technologic advances may bring welcomed change. Parents who have children with Down syndrome have already found much richness in life with an extra chromosome," Skotko wrote in an article published in the BMJ in October 2009.

Dr. Suzanna Frints, of Maastricht University Medical Center in the Netherlands, began the ongoing research with her team in 2009, and claims that their technique is 80 percent reliable. Her team has proven their technique works by using the mother’s blood to identify the Y chromosome from the fetus.

Twenty-one women who have either had abortions or underwent amniocentesis, or other prenatal screening procedure, have participated in the research. But to establish the accuracy of the test, Frints said the next phase of development would need to involve more women.

Frints described the results as “promising,” and hopes that their technique will be able to screen for other abnormalities, like muscular dystrophy, hemophilia, Edwards syndrome and Patau syndrome.

“When we succeed in developing the procedure for use in maternal blood, we will be able to offer a safe, cheap, fast, reliable and accurate non-invasive test, which will be of immediate benefit to pregnant women, young and old, all over the world,” Frints said.

Professor Stephen Robson, spokesman for the Royal College of Obstetrics and Gynecology, considers a non-invasive test for detecting Down syndrome the “holy grail” and said there was an ''enormous research effort’’ behind it.

Down syndrome is a genetic abnormality that affects around 1 in 800 babies born in the U.S., and is the most common genetic cause of severe learning disability.