15 October 2009

Diagnosis of trisomies: congratulations to Sequenom sovramshi!

Work on a safe method for diagnosing fetal Down syndrome has been suspendedCopper news
An independent commission found a number of violations in the conduct of studies of a recently developed American test for the intrauterine diagnosis of Down syndrome by a mother's blood test.

Further work on the test has been temporarily suspended, according to a press release from the Sequenom developer company.

Currently, such invasive methods as amniocentesis (amniotic fluid examination) and chorionic villus biopsy are used to diagnose Down syndrome (trisomy on the 21st chromosome) in the fetus. Both of them are associated with a one percent risk of miscarriage. The new technique is based on the analysis of the number of fragments of the 21st chromosome of the child in the mother's blood. According to the developers, safe blood diagnostics can be carried out as early as five weeks after conception, and not after 15, as invasive methods.

As follows from the article in PNAS, during pilot tests of the new technique on blood samples of 18 pregnant women, nine cases of Down syndrome, two cases of Edwards syndrome (trisomy on the 18th chromosome) and one case of Patau syndrome (trisomy on the 13th chromosome) were identified.

A specially created commission to evaluate the results of these tests came to the conclusion that due to Sequenom's desire to move more quickly from test research to its commercial production, the company failed to ensure that the tests comply with the specified protocol and carry out adequate supervision of their conduct. Because of this, the commission recognized that the experimental data contain "inadequately substantiated statements, contradictions and errors."

Based on the commission's conclusion, the company dismissed part of the management team, including President and CEO Harry Stilli, and several other employees. The test results of the methodology were invalidated, work on it was temporarily suspended.

Nevertheless, Sequenom continues to believe in the scientific justification for the diagnosis of Down syndrome by blood analysis and expects to retain the primacy in this area.

Portal "Eternal youth" http://vechnayamolodost.ru15.10.2009

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