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

- risk pregnancy physician said, "Obstetric care providers must become familiar with the advantages and disadvantages of the use of this approach. Clinicians should provide patients with both pretest and posttest counseling with the goal of avoiding patient harm or confusion - I can't stress this enough."

Gregg added, "Most of the companies that are developing these tests have referred to it as NIPDiagnosis or NIPTest. In our view, it is NOT a diagnostic test such as chorionic villus sampling [CVS] or amniocentesis; hence, we coined the term Noninvasive Prenatal SCREENING (NIPS)."

NIPS was initially validated for Down syndrome screening and has been applied to other trisomies including 13 and 18 with sex chromosomes being added now.

ACMG Medical Director Barry Thompson, MD, FACMG, another author of the Statement added, "NIPS is now one of many approaches available to women who desire Down syndrome screening. Unlike other methods, it is minimally invasive in that it only requires a blood sample from the pregnant mother rather than the more invasive amniocentesis or CVS that have associated risks of miscarriage."

"NIPS is a very accurate screening test, " said Michael S. Watson, PhD, Executive Director of the American College of Medical Genetics and Genomics. However, it is well known that the cells originate from 'extraembryonic tissues' around the fetus so aneuploidy status may not always be identical to the genetics of the fetus. The advantages include that the detection rate is higher, the negative predictive value is greater, and the false positive rate is lower, than any other current screening approaches for Down syndrome. It must be followed up, however, by a diagnostic test since NIPS is a screening test."

"Finally, NIPS does not replace a first trimester ultrasound (12-14 weeks); rather, it complements it," Watson added.


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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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