Antenatal genetic screening for congenital nephrosis

This study was undertaken to study the applicability of genetic antenatal screening for the Finnish type of congenital nephrosis (CNF), which is a recessive disorder leading to nephrotic syndrome from birth. At Kuopio University Hospital, a total of 1303 pregnant women were offered carrier screening for CNF at the time of first trimester nuchal fold translucency measurement when fetally derived alpha-fetoprotein is still produced by the yolk sac. Two mutations of the nephrin (NPHS 1) gene, accounting for approximately 95% of affected alleles, were tested by two PCR tests. Uptake of the gene test was 91.0% (n=1183). Altogether 38 female carriers were found; a population carrier frequency of 1 in 31. Their partners were tested and two of them were also found to be carriers. In these two pregnancies invasive prenatal diagnosis was offered and accepted, and the results indicated one carrier and one affected fetus. Carrier screening is an effective and well-accepted method for antenatal screening for fetal CNF. Direct mutation analysis involves markedly less invasive procedures compared with serum alpha-fetoprotein (AFP) screening, and the diagnosis was clear-cut. The results indicate that in single-gene disorders genetic testing is suitable for antenatal screening.