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Aurora magazine

Prenatal diagnosis of Duchenne muscular dystrophy begins before conception

A Polish study analyzes how to optimize prenatal diagnosis of Duchenne muscle dystrophy (DMD) and Becker (BMD). According to the researchers, it is crucial to strengthen the controls even before conception. They therefore propose genetic tests that determine the risk of the woman transmitting the disease to the offspring.

The study has an explanatory title: "Prenatal diagnosis of Duchenne and Becker's muscular dystrophy: the underestimated problem of secondary prevention of monogenic diseases". In short, how to identify the subjects at risk first helps get an early diagnosis afterwards.

The researchers at the Warsaw's Institute of Psychiatry and Neurology conducted prenatal genetic tests on 169 Polish women. Among these there were 78 likely DMD or BMD carriers and 23 non-carriers, but with sick children. The remaining 68 were at risk but with an uncertain status. Prenatal tests started in January 1992 and ended in June 2012.

52% of participants with a sick child did the genetic test before conception. The next prenatal test on the fetus had in all cases a conclusive outcome that was negative or positive. Among women with an uncertain status, however, only 60% of prenatal tests gave a conclusive result. A preliminary genetic test, therefore, can optimize the next prenatal diagnosis.