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October 15, 2011 (Vol. 31, No. 18)

Prenatal Markets Remain Strong and Fertile

As Women Delay Motherhood, Demand for a Broader Range of Products Increases Significantly

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    Prenatal tests assess the risk or the presence of chromosomal abnormalities in a fetus. Copy number variation or chromosomal imbalances (amplifications or deletions) can have devastating effects on a pregnancy—even causing loss of the fetus.

    Another focus in prenatal testing is the risk assessment and diagnosis for Down syndrome (DS), which has an incidence of 1 out of 800 to 1 out of 1,000 births. Risk probabilities for DS increase with advancing maternal age and as women are delaying their first pregnancy until later in life these days, prenatal testing will become an even more important measure for concerned parents-to-be.

    Currently, genetic testing on the fetus involves sampling material by amniocentesis or chorionic villus sampling (CVS). Due to the slight risks of miscarriage and potential complications associated with both procedures, maternal blood tests were developed to screen the larger population for the at-risk subset that should have an invasive procedure performed for conclusive diagnostic testing.

    Clinical publications report a reduction in the number of invasive procedures conducted as a result of prenatal screening practices. Concurrently, detection rates for DS have improved, likely as a result of these effective prenatal screening algorithms.

    U.S. prenatal testing was a $1.3 billion market in 2010. Prenatal screens provided 75% of revenues, and prenatal diagnostic testing generated the remaining 25%. Considering that 60% to 70% of the 5 million births in the U.S. receive prenatal care, the screening segment would be large relative to the diagnostic segment. However, the clinical utility of microarrays and sequencing in prenatal applications will lay the foundation for tremendous growth in the prenatal diagnostic segment.

    The much anticipated commercial launch of noninvasive prenatal diagnostics (NIPD) in 2012 will bring to market a diagnostic-level analysis of rare fetal cells and nucleic acids circulating in maternal blood. The NIPD competitive landscape includes Verinata Health, Sequenom, LabCorp (Genzyme Genetics), QuantaLife, Ravgen, and Novartis/Fluidigm.

    The exciting technological developments in the prenatal diagnostic segment make this one of the most anticipated clinical diagnostic segments, which will contribute to the long-term health of prenatal testing markets.

    Market restraints in prenatal testing include slightly falling fertility rates, conservative action by the influential American College of Obstetricians and Gynecologists, and the individual attitudes of patients in their choices for prenatal care.

    Key market participants include Perkin­Elmer, LabCorp, and Quest Diagnostics. Market share is quickly captured by clinical companies through acquisition of specialty prenatal testing service providers.

    Preimplantation genetic diagnosis (PGD) is a lesser known application area for genetic technologies. PGD is the genetic analysis of embryos that are produced by in vitro fertilization (IVF) cycles. PGD testing is done prior to implantation to help select the embryos for implantation that are free of inherited genetic disorders.

    PGD screening of embryos for aneuploidy will be a major growth application since approximately half of the cases of embryonic loss within assisted reproductive technology (ART) are associated with aneuploidy.

    Of the total PGD testing in the U.S., 78% search for chromosomal abnormalities such as aneuploidy, translocations, and gender determination. The remaining 22% of PGD testing search for single-gene mutations and human leukocyte antigen (HLA) typing.

    HLA typing is a critical factor for biological compatibility between a donor embryo and a sibling. Chromosomal analysis is more frequent because some aneuploidy detection by fluorescence in situ hybridization has been reimbursed and also because couples that are undergoing IVF cycles have less awareness of the ability to test for single-gene mutations.

    The 8,000 PGD cases per year include chromosomal and single-gene mutation analysis. ART couples that use PGD must add thousands of dollars in addition to the cost of an IVF cycle and PGD fees, which are usually paid out of pocket. The size of the U.S. PGD market is less than 2% of the U.S. prenatal testing market since it is still considered experimental.

    In the long term, prenatal testing and infertility associated service markets like PGD will be in demand as women are delaying motherhood. The market stages range from relatively mature (prenatal screens), growing (prenatal diagnostics), and early stage (PGD).

Posted 10/17/2011 by Leticia Velasquez

<div id="dsq-comment-text-336753533" style="display: inline; padding: 0px; margin: 0px;">I know this is genetics outlet so we are talking about numbers and outcomes, but there is more to the story.  Those 750,000 pregnancies which may be detected thanks to new screenings,  are home to three quarters of a million Americans whose chance of being born will diminish 92% after their mother finds out she is carrying a child with Down syndrome, according to current trends of mother who aborted after positive test results from current procedures like amnio and CVS.  They will not know that today is the best day in human history to be born with Down syndrome; thanks to educational, medical and research advances. People with Down syndrome are living longer, happier, more productive lives than ever. They are achieving educational goals like graduating high school, attending college, getting married, driving and living independently.  "Down syndrome is characterized by slower mental and physical development, including delayed language and motor skills".  Research breakthoughs have given scientists like Dr Alberto Costa hope that he is in the process of making the cognitive delays of Down syndrome a thing of the past. Dr William Mobley of UC San Diego says he believes in less than a decade a drug will be available which will make the learning and memory of those with Down syndrome completely normal. BUT this Sequenom prenatal test called MaterniT21 endangers this live enhancing research, according to this New York Times article. [url=http://www.nytimes.com/2011/07/31/magazine/a-fathers-search-for-a-drug-for-down-syndrome.html?pagewanted=all]http://www.nytimes.com/2011/07...[/url] If 92% of women who get positive results for Down syndrome continue to abort, there will be virtually no children born with Down syndrome and research funds to improve their lives will dry up.  IF we don't allow pregnant women time to learn these indisputilbe facts before they make a decision whether to give birth to their child with Down syndrome, not only are we sinking the hopes of the 400,000 Americans living with Down syndrome who hope for this type of breakthrough, but we are denying her dignity as a patient who is entitled to informed consent. Making money off the suffering and ignorance of others is immoral. </div>


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