PRENATAL ULTRASOUND OBSERVATIONS IN SUBSEQUENT PREGNANCIES WITH PERLMAN-SYNDROME

Perlman syndrome is a rare disease with a poor prognosis. Until now th e specific antenatal diagnostic criteria of this syndrome have not bee n documented. We report on two pregnancies with Perlman syndrome, in t he same woman, in which karyotyping and ultrasound examination were pe rformed. In the first pregnancy the final diagnosis was made only post natally, whereas, in the second affected pregnancy nuchal translucency was seen at 11 weeks. From 23 weeks onwards the classical signs of ve nal and abdominal enlargement were observed. The impact of non-specifi c early ultrasound markers on decision-making in pregnancies with fami ly risks, where specific tests ave not yet available, must be evaluate d.