Prenatal diagnosis of autosomal recessive polycystic kidney disease: variable outcome within one family.
Autosomal recessive polycystic kidney disease is frequently diagnosed in utero by obstetric ultrasonography. We report a case in which there were varying outcomes of this disorder in three affected fetuses in a family. Recognition of variable expression within one family is important when parents are considering termination of a pregnancy with an affected fetus.
Barth
R A
RA
Department of Radiology, University of Vermont, Burlington.
Guillot
A P
AP
Capeless
E L
EL
Clemmons
J J
JJ
D000328:Adult; D005192:Family Health; D005260:Female; D005315:Fetal Diseases / Q000000981:diagnostic imaging* / Q000235:genetics; D005808:Genes, Recessive; D006801:Humans; D007690:Polycystic Kidney Diseases / Q000000981:diagnostic imaging* / Q000235:genetics; D011247:Pregnancy; D016216:Ultrasonography, Prenatal