Perinatology.  2020 Jun;31(2):99-102. 10.14734/PN.2020.31.2.99.

Prenatal Genetic Diagnosis of Congenital Nephrotic Syndrome

• Seo JM
• Kim SY
• Park IY
• Chae H
• Kim M

• KMID: 2503957
• DOI: http://doi.org/10.14734/PN.2020.31.2.99

Abstract

Congenital nephrotic syndrome (CNS) of the Finnish type is an autosomal recessive disorder caused by mutations in the gene encoding nephrin (NPHS1). A 31-year-old primigravida woman from the Philippines was referred to Seoul St. Mary’s Hospital with an abnormally elevated maternal serum α-fetoprotein (MSAFP) level of 8.5 multiples of the median (MoM) at 16+1 weeks gestation. The MSAFP level was 11.25 MoM when measured at Seoul St. Mary’s Hospital. The amniotic fluid tested negative for acetylcholine esterase and had an α-fetoprotein level of 41.09 MoM. The karyotype was normal. Analysis of the NPHS1 gene in amniotic fluid by massively parallel sequencing revealed mutations associated with CNS. Cesarean delivery was performed at 37+4 weeks gestation due to transverse presentation. The neonate was not severely affected; there was no evidence of proteinuria or renal failure. However, because symptoms usually appear within 2 weeks to 1 month of age, close monitoring that includes regular blood and urine testing should be conducted.

Keyword

Fetus; Nephrotic syndrome; alpha-Fetoproteins; High-throughput nucleotide sequencing; Prenatal diagnosis