Prenatal diagnosis of Batten's disease.
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.
Munroe
P B
PB
Department of Paediatrics, Rayne Institute, University College London Medical School, UK.
Rapola
J
J
Mitchison
H M
HM
Mustonen
A
A
Mole
S E
SE
Gardiner
R M
RM
Jarvela
I
I
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
D017931:DNA Primers