Prenatal diagnosis of progressive familial intrahepatic cholestasis type 2.

[benign recurrent intrahepatic cholestasis]

Progressive familial intrahepatic cholestasis type 2 (PFIC 2 ) results from genetic defects of the hepatobiliary bile salt export pump (BSEP , ABCB 11 ) at chromosome 2 q 24 . Patients with progressive cholestasis and liver cirrhosis usually need liver transplantation in the first decade . Mutations in ABCB 11 are also associated with benign recurrent intrahepatic cholestasis type 2 and intrahepatic cholestasis of pregnancy in adult patients . We aimed to make the prenatal diagnosis of PFIC 2 .Genetic diagnosis was performed by genomic DNA analysis . Prenatal genetic diagnosis was made by fetal amniotic DNA and chorionic DNA analysis .We report on two families of PFIC 2 with inherited compound heterozygous mutations of ABCB 11 (M 183 V and R 303 K in Family 1 , V 284 L and 1145 delC in Family 2 ) from the parents . An infant with heterozygous M 183 V mutation was later born healthy in Family 1 . A fetus with compound heterozygous missense mutation V 284 L and 1145 delC was terminated in Family 2 .Prenatal diagnosis of PFIC 2 was helpful to prevent further affected children in families with this fatal disease .