Prenatal diagnosis of a fetus affected with Finnish type congenital nephrotic syndrome

Objective To explore the genetic basis for a fetus suspected for congenital nephrotic syndrome of Finland (CNF). Methods Genomic DNA was extracted from peripheral and umbilical cord blood samples derived from both parents and the fetus. Potential variants were detected by using next-generation sequencing. Suspected variants were confirmed by Sanger sequencing. Results The fetus was found to carry compound heterozygous variants c. 1440+ 1G>A and c. 925G>T of the NPHS1 gene, which were respectively inherited from its mother and father. Conclusion Identification of the compound heterozygous NPHS1 variants has enabled diagnosis of CNF in the fetus and genetic counseling for the affected family. Key words: Finnish type congenital nephrotic syndrome; NPHS1 gene; Prenatal diagnosis