Prenatal diagnosis of Fukuyama-type congenital muscular dystrophy by microsatellite analysis

We applied microsatellite analysis to prenatal diagnosis of Fukuyama- typecongenital muscular dystrophy (FCMD), an autosomal recessive severemuscular dystrophy associated with brain malformations. Recentidentification of the FCMD gene locus at 9q31-q33 provided the basis forprenatal diagnosis and carrier detection. We recently developed newmicrosatellite markers which are closer to the FCMD gene and improved thephenotype probability. Nine fetuses in eight unrelated FCMD families,including a twin pregnancy, were analysed using the newly developedmarkers. Four fetuses showed over 99% probability of being healthy eitheras normal homozygote (n = 1) or heterozygote carrier (n = 3) and were bornwithout signs of FCMD. The other five fetuses were diagnosed with aprobability of FCMD of 99% or greater; all of the latter parents decided toterminate the pregnancies. Brain malformations characteristic of FCMD inone of the aborted fetuses confirmed the diagnosis of FCMD at 19 weeks ofgestation.