Experts Release Statement on Down Syndrome Test

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International Society for Prenatal Diagnosis recommends caution, counseling.

Dr. Peter Benn, MPS Statement Author

ISPD recommends detailed genetic counseling to explain the benefits and limitations of the MPS test.

With the 14 October 2011 release of a clinical validation study in the journal Genetics in Medicine, life sciences company Sequenom, Inc. launched a new non-invasive test for Down syndrome in the U.S., MaterniT21. Through massively parallel sequencing (MPS), a complex form of DNA sequencing, the test can detect a large proportion of Down syndrome-affected pregnancies. The study indicates a Down syndrome detection rate of 98.6%.

The International Society for Prenatal Diagnosis (ISPD) Board of Directors recognizes that the development of noninvasive tests offers substantial opportunities to improve screening. They also note that there are significant practical issues that arise with the introduction of the new test. Today, the group issued a statement cautioning against “the ad-hoc use of MPS testing in women at lower risk (of Down syndrome-affected pregnancies), outside a formal protocol that considers the overall best combination of tests, their impact on screening performance and patient acceptability.”

For women who are determined as high risk using one of the currently accepted prenatal screening protocols, ISPD recommends detailed genetic counseling to explain the benefits and limitations of the MPS test. This includes cautionary information about the detection rate, false-positive rate, the limited scope of the genetic abnormalities identified through MPS, and practical aspects such as the need for confirmatory invasive testing when there is a positive MPS test. The group also called for additional trials before routine MPS-based population screening for fetal Down syndrome is introduced.

Dr. Peter Benn, University of Connecticut Health Center, led the international committee of authors of this statement which includes top experts in the field worldwide. Dr. Benn recommends, “Women who are eligible should ask their obstetrician and a genetic counselor for a full explanation about this important new test.”

The full statement can be found at http://ispdhome.org/public/about-news.aspx

About the International Society for Prenatal Diagnosis
The International Society for Prenatal Diagnosis was founded in 1996 and is derived from the meetings of the International Congresses on Early Prenatal Diagnosis. The organization was formed to provide a forum for discussion of chorionic villus sampling among the international scientific community. It has grown to be a multidisciplinary and global organization encompassing all aspects of prenatal diagnosis and therapy.

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Carolyn Pennington
University of Connecticut Health Center
(860) 679-4864
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