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ACMG releases statement on noninvasive prenatal screening
Date:4/8/2013

The American College of Medical Genetics and Genomics (ACMG) has just released an important new Policy Statement on "Noninvasive Prenatal Screening for Fetal Aneuploidy." The Statement can be found in the Publications section of the ACMG website at http://www.acmg.net and will soon be published in the peer-reviewed medical journal, Genetics in Medicine.

As background, in recent decades there have been many changes and improvements in prenatal genetic screening and diagnosis. The risk, however, of testing with specimens obtained by invasive procedures such as amniocentesis and chorionic villus sampling (CVS) has led to the search for new methods using mother's blood specimens obtained noninvasively. The most recent advances in genomics and genomic technologies have resulted in such noninvasive prenatal screenings (NIPS). The acronym NIPS is used to emphasize the screening nature (false positives and false negatives do occur) of tests currently on the market.

The new ACMG Statement on Noninvasive Prenatal Screening addresses:

  • The current limitations of NIPS

  • The advantages of NIPS compared with current screening approaches

  • Pretest and posttest genetic counseling

  • The reporting of results by laboratories performing NIPS

  • Oversight of analytical and bioinformatic components by testing of the laboratories performing NIPS

The Statement says that while studies are promising and demonstrate high sensitivity with low false-positive rates, there are limitations to NIPS, "NIPS for fetal aneuploidy has arrived; however, as with most new technologies, there is room for refinement." The report strongly states that positive results should be followed-up with an invasive diagnostic test before any decision is made regarding pregnancy termination.

Lead author of the ACMG Statement Anthony R. Gregg, MD, FACOG, FACMG and high
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Contact: Kathy Ridgely Beal
kbeal@acmg.net
301-238-4582
American College of Medical Genetics
Source:Eurekalert

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