Prenatal ultrasound observations in subsequent pregnancies with Perlman syndrome

Perlman syndrome is a rare disease with a poor prognosis. Until now, the specific antenatal diagnostic criteria of this syndrome have not been documented. We report on two pregnancies with Perlman syndrome, in the same woman, in which karyotyping and ultrasound examination were performed. In the first pregnancy, the final diagnosis was made only postnatally, whereas, in the second affected pregnancy, nuchal translucency was seen at 11 weeks. From 23 weeks onwards the classical signs of renal and abdominal enlargement were observed. The impact of non-specific early ultrasound markers on decision-making in pregnancies with family risks, where specific tests are not yet available, must be evaluated.