PRENATAL AND PRESYMPTOMATIC DIAGNOSIS OF THE MARFAN-SYNDROME USING FLUORESCENCE PCR AND AN AUTOMATED SEQUENCER

The Marfan syndrome (MFS) is a heritable connective tissue disorder ch aracterized by skeletal, ocular, and cardiovascular abnormalities. Def ects in fibrillin, an elastin-associated microfibrillar protein, are n ow known to cause MFS. Since the discovery of fibrillin as the gene re sponsible for MFS, requests for prenatal and presymptomatic diagnosis have become common-place. Here we report the use of the polymerase cha in reaction (PCR), using fluorescence labelled primers and an automate d sequencer, to establish linkage data for 'molecular diagnosis'. The mistaken clinical diagnosis of MFS based on the appearance of a common cardiovascular manifestation, mitral valve prolapse, and a positive f amily history is also discussed.