6533b7d8fe1ef96bd1269899
RESEARCH PRODUCT
Prenatal diagnosis of infantile neuronal ceroid-lipofuscinosis: a combined electron microscopic and molecular genetic approach.
Bernd ReitterBrigitte Schneider-rätzkeEberhard MerzHans H. GoebelJouni VesaTimm O. Goeckesubject
MalePathologymedicine.medical_specialtyCell typeBiopsyInfantile neuronal ceroid lipofuscinosisSpleenPrenatal diagnosisBiologyConsanguinityDevelopmental NeuroscienceNeuronal Ceroid-LipofuscinosesPregnancyPrenatal DiagnosisBiopsymedicineHumansreproductive and urinary physiologyFetusmedicine.diagnostic_testAborted FetusSkeletal muscleInfantAbortion InducedGeneral MedicineChorionDNAmedicine.diseasePedigreeMicroscopy Electronmedicine.anatomical_structureLiverembryonic structuresPediatrics Perinatology and Child HealthFemaleNeurology (clinical)description
Based on two unrelated index patients afflicted with INCL, fetal chorion tissues were studied from subsequent pregnancies of the two respective mothers resulting in the prenatal diagnosis of INCL in two of the three pregnancies. Documentation of INCL was based on electron microscopy and DNA studies of the biopsied chorion tissue, later confirmed in the two affected fetuses after termination of their pregnancies by demonstrating INCL-specific lipopigments in post-mortem tissues, in the liver of both aborted fetuses and, additionally, in spleen and skeletal muscle of one of the affected fetuses. The autolysis of the aborted tissues, however, precluded a systematic documentation of all affected cell types and tissues. Thus, prenatal diagnosis of INCL is feasible and reliable for both Finnish and non-Finnish families.
| year | journal | country | edition | language |
|---|---|---|---|---|
| 1995-03-01 | Braindevelopment |