title: Prenatal diagnosis of Fukuyama-type congenital muscular dystrophy by microsatellite analysis.
abstract: We applied microsatellite analysis to prenatal diagnosis of Fukuyama-type congenital muscular dystrophy (FCMD), an autosomal recessive severe muscular dystrophy associated with brain malformations. Recent identification of the FCMD gene locus at 9q31-q33 provided the basis for prenatal diagnosis and carrier detection. We recently developed new microsatellite markers which are closer to the FCMD gene and improved the phenotype probability. Nine fetuses in eight unrelated FCMD families, including a twin pregnancy, were analysed using the newly developed markers. Four fetuses showed over 99% probability of being healthy either as normal homozygote (n = 1) or heterozygote carrier (n = 3) and were born without signs of FCMD. The other five fetuses were diagnosed with a probability of FCMD of 99% or greater; all of the latter parents decided to terminate the pregnancies. Brain malformations characteristic of FCMD in one of the aborted fetuses confirmed the diagnosis of FCMD at 19 weeks of gestation.
authors.affiliation: Department of Obstetrics and Gynecology, University of Tokyo, Japan.
authors.forename: Y
authors.initials: Y
authors.lastname: Takai
authors.forename: O
authors.initials: O
authors.lastname: Tsutsumi
authors.forename: I
authors.initials: I
authors.lastname: Harada
authors.forename: T
authors.initials: T
authors.lastname: Fujii
authors.forename: T
authors.initials: T
authors.lastname: Kashima
authors.forename: K
authors.initials: K
authors.lastname: Kobayashi
authors.forename: T
authors.initials: T
authors.lastname: Toda
authors.forename: Y
authors.initials: Y
authors.lastname: Taketani
mesh_terms: D000328:Adult; D000649:Amniocentesis; D001921:Brain / Q000002:abnormalities; D002899:Chromosomes, Human, Pair 9 / Q000235:genetics; D005260:Female; D006239:Haplotypes; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008297:Male; D018895:Microsatellite Repeats; D009136:Muscular Dystrophies / Q000151:congenital / Q000175:diagnosis* / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*