[Prenatal genetic diagnosis of type I autosomal dominant polycystic kidney disease].
Probanda affected with autosomal dominant polycystic kidney disease (ADPKD) had a molecular genetic analysis which indicated the type I. Of the three pregnancies in the probanda, first two had mutant gene carrier fetuses and these pregnancies were terminated. The fetus of the third pregnancy had no mutant gene and this pregnancy ended in the birth of a healthy boy. The principles of genetic counselling and antenatal care are summarised in ADPKD type I.
Klaus
Z
Z
Institut für Humangenetik der Universität Bonn.
Kozáry
M
M
Czeizel
E
E
D005260:Female; D005817:Genetic Counseling; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010375:Pedigree; D016891:Polycystic Kidney, Autosomal Dominant / Q000000981:diagnostic imaging* / Q000196:embryology / Q000235:genetics; D011247:Pregnancy; D011295:Prenatal Care; D016216:Ultrasonography, Prenatal
Autoszóm domináns öröklödésü polycystás vesebetegség I. típusának magzati géndiagnosztikája.