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Japan readies guidelines for Sequenom prenatal Down syndrome Dx

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A new prenatal diagnostic blood test that would help identify fetuses with Down syndrome could launch in Japan this month, now that a major medical society has issued a stringent set of guidelines meant to prevent misuse.

Japan Times reports on the new guidelines, which the Japan Society of Obstetrics and Gynecology issued in draft form in December and expects to formally sign off on this month. They have in mind the highly scrutinized MaterniT21 Plus test developed by U.S.-based Sequenom ($SQNM), which as the article notes, has a 99.1% accuracy rate of detecting trisomy 21 mutations; Down syndrome patients have three #21 chromosomes instead of two.

JSOG draft guidelines would limit using the blood test to pregnant women ages 35 and older. The test would also be restricted to women who have previously had children with chromosomal abnormalities, and women who have already been diagnosed in earlier prenatal exams as at risk of having trisomy 21- mutation babies, according to the story. Additionally, hospitals in Japan that offer the test would ideally have full-time doctors with expertise in prenatal diagnosis. JSOG recommendations also call for a certified genetic counselor on staff who would work with pregnant mothers-to-be before and after the diagnostic test.

Sequenom's test is not without controversy. As the article notes, opponents said the test, without proper guidelines, could lead to parents choosing to abort the pregnancies, and also create widespread Down syndrome-related discrimination. But Sequenom committed over the summer to expanding the test's reach on a global scale, signing distribution agreements in Europe, Asia and the Middle East.

Another company, archrival Ariosa Diagnostics, is developing its own prenatal test that also screens for trisomy 21 gene mutations.

- read the Japan Times article

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