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Noninvasive Test May Identify Down Syndrome Early On
Date:3/7/2011

n, identifying 14 Down syndrome cases and 26 normal fetuses, the study authors said.

If larger clinical trials confirm the results, the test could become standard practice, Patsalis said. "The cost is much lower than the invasive procedures," he said. "We estimate we can introduce this to clinical practice in a couple of years."

Dr. Brian Skotko, clinical fellow in genetics at Children's Hospital Boston and a spokesman for the National Down Syndrome Society, said this study has widespread implications for the incidence of Down syndrome.

With this new test, women will know if their baby has Down syndrome even before they look pregnant, Skotko said. "So they will be able to make a very personal decision without anyone realizing it," he said.

Noting that most of his Down syndrome patients say they lead fulfilling lives, Skotko said, "The overwhelming majority of family members say they can't imagine their life without their family member with Down syndrome."

More information

For more information on Down syndrome, visit the U.S. National Library of Medicine.

SOURCES: Philippos Patsalis, Ph.D., chief executive medical director, The Cyprus Institute of Neurology and Genetics, Nicosia; Brian Skotko, M.D., clinical fellow in genetics, Children's Hospital Boston, spokesman, National Down Syndrome Society; March 6, 2011, Nature Medicine, online


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