Prenatal diagnosis of PORCN‐related developmental syndrome in a fetus: A novel phenotype

Abstract

We report a case of a female fetus born to an unrelated couple with a complex fetal phenotype of a pleural effusion, a cardiac malformation, and syndactyly of the toes. Prenatal exome sequencing identified a variant of uncertain significance in the PORCN gene that was upgraded to likely pathogenic following postnatal clinical examination. The phenotype described in cases with variants in the PORCN gene is often associated with findings that cannot be prospectively diagnosed by ultrasonography. This is the first report of a prenatal phenotype involving a fetal effusion associated with variants in the PORCN gene, with skeletal findings identified later in gestation on ultrasonography. The diagnosis was confirmed on neonatal examination.

Reply

“…vision loss, renal function, biochemical blood and cerebrospinal fluid tests) and pathological manifestations, which can be assessed after delivery, often cannot be examined during pregnancy and may undergo significant changes after birth 8,9 . Unique manifestations and differences between the prenatal and postnatal presentation of the same genetic disorder have been described previously 10 and are likely to become more prevalent as additional cases are published 11 . Furthermore, variability in the phenotype of the same genetic disorder exists for many conditions, including NDUFAF5 ‐related disorders 3,12,13 .…”