Author/Editor		Peterlin, Borut
Title		Genetsko svetovanje pri epilepsiji in drugih nevroloških boleznih
Translated title		Genetic counseling for epilepsy and other neurological diseases
Type		članek
Source		Med Razgl
Vol. and No.		Letnik 44, št. Suppl 3
Publication year		2005
Volume		str. 19-22
Language		slo
Abstract		Genetic counseling associated with neurologic disease should be offered to couples with an increased risk of neurogenetic disease in their children and for evaluation of potential teratogenic effect of drugs prescribed for the treatment of neurologic disease in pregnant women. Clinical geneticists also contribute to the evaluation of pregnancies in case of potential complications due to neurogenetic disease in a pregnant woman and in case of congenital malformations in the fetus which are directly (anencephaly, holoprosencephaly, agenesis of the corpus callosum, lisencephaly, aplasia/hypoplasia of the cerebellum, hydrocephaly) or indirectly (fetal hydrops, polyhydramnion, arthrogryposis) associated with nervous system abnormalities.
Summary		Genetsko svetovanje v povezavi z nevrološkimi boleznimi je treba ponuditi parom v primeru, ko je zaradi genetske nagnjenosti v družini zvišano tveganje za rojstvo otroka z nevrogenetsko boleznijo in ko gre za oceno teratogenosti zdravil, ki jih nosečnica jemlje zaradi nevrološke bolezni. Prav tako je smiselno, da so genetiki vključeni v obravnavo nosečnosti v zvezi s podatki o možnih zapletih nosečnosti pri nevrogenetskih boleznih (npr. miotonična distrofija) ter kadar je v predrojstvenem obdobju odkrita razvojna nepravilnost, ki neposredno (anencefalija, holoprosencefalija, ageneza korpusa kalozuma, lizencefalija, aplazija/hipoplazija malih možganov, hidrocefalus) ali posredno (zastoj plodove rasti, hidrops ploda, polihidramnij, artrogripoza) kaže na prizadetost živčevja.
Descriptors		EPILEPSY NERVOUS SYSTEM DISEASES PREGNANCY GENETIC COUNSELING