Autosomal dominant polycystic kidney disease: prenatal diagnosis by DNA analysis and sonography at 14 weeks.
A pregnant woman affected with autosomal dominant polycystic kidney disease (ADPKD) had a history of an affected fetus, diagnosed by sonography at 29 weeks of pregnancy. The proband's father was also affected. DNA analysis performed on chorionic villi at 11 weeks during a second pregnancy predicted an affected fetus, and sonographic examination at 14 weeks confirmed the diagnosis.
Ceccherini
I
I
Lab. Genetica Molecolare, Istituto Giannina Gaslini, Genova, Italy.
Lituania
M
M
Cordone
M S
MS
Perfumo
F
F
Gusmano
R
R
Callea
F
F
Archidiacono
N
N
Romeo
G
G
D000328:Adult; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis*; D006801:Humans; D007668:Kidney / Q000473:pathology; D008297:Male; D010375:Pedigree; D007690:Polycystic Kidney Diseases / Q000175:diagnosis* / Q000235:genetics; D012150:Polymorphism, Restriction Fragment Length; D011247:Pregnancy; D011296:Prenatal Diagnosis; D014463:Ultrasonography