The VALUE (VAlidation of a Lower cost aneUploidy screen) study is a three year project to provide an external evaluation of a reliable, yet low cost and easy to use cell free (cf)DNA prenatal screening test for Down syndrome in the late first and early second trimester.  The intended use of this test is as a primary prenatal screening test for the general pregnancy population.  Enrollment began in late 2016 and women who are at both low and high risk are being approached to join the study at 15 sites in the United States and Canada.  Currently, the samples collected are being processed at the Division of Medical Screening (Elm Street) and frozen for later testing.  Over the past few days the specialty equipment needed to test the samples has arrived at 70 Elm Street and is being installed.  One piece was so large that a crane was used on Tuesday morning to help slip it into a third story window (picture).  The technology used has been developed by Vanadis Diagnostics, a Swedish company that is now wholly owned by PerkinElmer.  The methodology used does not require the large infrastructure associated with usual genomic testing and can be performed in routine laboratory space by non-molecular technicians.

Over the next few weeks, research staff in the Division of Medical Screening will learn how to operate the system and will begin testing study samples in July.   The last of the 2500 or so samples are expected to be tested in early 2019.  At that point, it will be possible to begin evaluation of whether this technology is something that WIH may want to begin offering as an in-house clinical test.  If so, it could replace current cell free (cf) DNA testing offered by commercial laboratories that many primary prenatal care providers in Rhode Island already offer to their patients.

This project is funded by a joint contract between PerkinElmer and WIH for three years at a total cost of approximately $1.8 million.  The design, implementation, interpretation and reporting of results is entirely under the direction of Dr. Glenn Palomaki, PhD, and Dr. Geralyn Messerlian, PhD,  Associate Director and Director of the Division of Medical Screening of the Department of Pathology and Laboratory Medicine of Women & Infants Hospital respectively.  They are also Professors of Pathology & Laboratory Medicine of Alpert Medical School of Brown University.