Prenatal ultrasound observations in subsequent pregnancies with Perlman syndrome

Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology
J G van der StegeB Arabin

Abstract

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.

Citations

Aug 8, 2001·Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology·A P SoukaK H Nicolaides
Jul 18, 2009·Prenatal Diagnosis·Neeta Vora, Diana W Bianchi
Nov 10, 2005·American Journal of Medical Genetics. Part a·Maria PiccioneGiovanni Corsello
Sep 10, 2008·American Journal of Medical Genetics. Part a·Jean-Luc AlessandriSylvie Rossignol
Nov 24, 2006·Paediatric Anaesthesia·Kiyoshi KatoriKeiichi Nitahara
Aug 14, 2001·Clinics in Perinatology·R Snijders
Apr 23, 2005·American Journal of Obstetrics and Gynecology·Athena P SoukaKypros H Nicolaides
Jun 23, 2000·Clinical Obstetrics and Gynecology·P Dar, S J Gross
Apr 22, 2004·Journal of Ultrasound in Medicine : Official Journal of the American Institute of Ultrasound in Medicine·Michael E DeRocheAdam F Borgida

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