Ceccherini I, Lituania M, Cordone M S, Perfumo F, Gusmano R, Callea F, Archidiacono N, Romeo G
Lab. Genetica Molecolare, Istituto Giannina Gaslini, Genova, Italy.
Prenat Diagn. 1989 Nov;9(11):751-8. doi: 10.1002/pd.1970091103.
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.
一名患有常染色体显性多囊肾病(ADPKD)的孕妇有过一个患病胎儿的病史,该胎儿在妊娠29周时通过超声检查确诊。先证者的父亲也患有该病。在第二次怀孕11周时对绒毛膜进行的DNA分析预测胎儿患病,14周时的超声检查证实了这一诊断。