title: Prenatal diagnosis of Batten's disease.
abstract: BACKGROUND
  Batten's disease is the most common progressive encephalopathy of childhood in Western countries. The major mutation is a 1kb deletion, which is carried by 81% of Batten's disease patients. We report on the use of direct gene analysis in the prenatal diagnosis of this disease.
  
  
  RESULTS
  A Finnish woman with a son with Batten's disease came for genetic counselling for her current pregnancy. Electron microscopy of a chorionic villus sample gave suggestive findings. We used PCR to look for the intragenic microsatellite marker D16S298; 96% of Finnish Batten's disease patients carry allele 6 at this marker. The fetus and the affected son both carried the same high-risk genotype, 6/6. Both were homozygous for the 1 kb deletion. The pregnancy was terminated. Electron microscopy of the fetus showed typical Batten's disease changes.
  
  
  CONCLUSIONS
  We have successfully used direct gene analysis in the prenatal diagnosis of Batten's disease.
authors.affiliation: Department of Paediatrics, Rayne Institute, University College London Medical School, UK.
authors.forename: P B
authors.initials: PB
authors.lastname: Munroe
authors.forename: J
authors.initials: J
authors.lastname: Rapola
authors.forename: H M
authors.initials: HM
authors.lastname: Mitchison
authors.forename: A
authors.initials: A
authors.lastname: Mustonen
authors.forename: S E
authors.initials: SE
authors.lastname: Mole
authors.forename: R M
authors.initials: RM
authors.lastname: Gardiner
authors.forename: I
authors.initials: I
authors.lastname: Jarvela
mesh_terms: D001483:Base Sequence; D017931:DNA Primers; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis* / Q000235:genetics; D017353:Gene Deletion; D005817:Genetic Counseling; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009472:Neuronal Ceroid-Lipofuscinoses / Q000175:diagnosis* / Q000235:genetics; D011247:Pregnancy; D011296:Prenatal Diagnosis
chemical_list: D017931:DNA Primers