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New Industry Report on Prenatal Diagnostics

February 6, 2014 | The recent transformation in prenatal screening began in October of 2011, when Sequenom announced the release of MaterniT21 PLUS, the first non-invasive prenatal test (NIPT) for aneuploidy disorders like trisomy 21. But it’s only been over the past 12 months that this new world of screening has shifted into the commercial mainstream. California has offered NIPT to all high-risk mothers in the state. Both Sequenom and Natera have expanded NIPT to cover more difficult-to-capture microdeletion disorders like DiGeorge syndrome. Illumina has announced plans to submit its verifi test for FDA approval to be classed as a diagnostic. Clinical studies have indicated that average-risk mothers may benefit as much as high-risk mothers from these screens.

With this sea change underway, Insight Pharma Reports has released a new report on prenatal diagnostics, featuring interviews with representatives from the major corporate players in this space, to highlight how far prenatal diagnostics has come, and where the field is going next. – The Editors 


Prenatal Diagnostics is a rapidly growing field in research and development. With several hereditary disorders and complications on the rise, it’s vital to have accurate screening methods for appropriate action to be taken. Because invasive procedures often carry a risk of miscarriage, many companies have begun investigating and launching products that can be used noninvasively to screen for common aneuploidies. Generally, the most common methods used for prenatal aneuploidy detection include chorionic villus sampling and amniocentesis, but in an effort to avoid unnecessary fetal risk, several companies have created various technologies specializing in noninvasive screening. These methods decrease the amount of invasive testing, and therefore decrease the risk of miscarriage. Additionally, they can be used in sync with invasive testing, only singling out expecting mothers who are at risk for fetal aneuploidies. 

One of the methods used is sequence-based cell-free DNA. A serum sample, which carries cell-free circulating fetal DNA, is collected from the mother, and analyzed based on the quantity of a number of chromosomes. Roughly 85% of the DNA from this sample is from the mother and 15% is from the fetus. Using these averages and massively parallel shotgun sequencing, researches can map which chromosomes are from the mother and which are from the fetus. Other methods used include isolating the maternal DNA, mapping it, and comparing blood sample (which contains the fetal DNA) to the maternal DNA. Companies specializing in this space include Sequenom, Verinata Health, Ariosa Diagnostics, Natera, and Silicon Biosystems.

In addition to investigating aneuploidies, companies are also looking into detecting early stages of preeclampsia and preterm labor. Preeclampsia is a common condition in women and often isn’t detected until later in pregnancy. It can lead to preterm labor, which may be fatal for both the fetus and the mother. So far, a test to screen for the likelihood of preeclampsia does not exist. Detecting the risk of preeclampsia early in pregnancy can allow the expecting mother to take necessary action to avoid preterm labor at all costs, decreasing any complications that may severely affect the fetus including death. Companies involved in this space include Metabolomic Diagnostics and NX PharmaGen.

This is an expert from the new Insight Pharma Reports entitled Prenatal Diagnostics: Invasive Testing, Noninvasive Testing, and Rising Maternal Screening Methods for Preeclampsia and Preterm Labor.  More information about this report can be found online at


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