engleski

Prenatal diagnisis od Fryns syndrome in Europe

Fryns syndrome (OMIM 229850) is a rare autosomal recessive multiple congenital anomaly syndrome characterized by diaphragmatic hernia, dysmorphic features and distal limb hypoplasia. Additional anomalies of genitourinary, gastrointestinal and central nervous system are also often present. Because of the severity of the disorder most cases can be detected prenatally by routine ultrasound examination, particularly if they are associated with a major malformation. The aim of this study was to present data on prenatal diagnosis of this rare syndrome in the European region. We evaluated 22 cases of Fryns syndrome, registered and confirmed in Eurocat (European Surveillance of Congenital Anomalies) network of congenital malformation registries in 1980-2002 period. Ultrasound led to the prenatal detection of 13/22 (59%) cases. Mean gestational age at discovery was 22± 1.3 (range 12-33) weeks. In 7/13 (46.2%) karyotyping was done and gave normal results. Amniocentesis was performed in 4/13 (30.8 %) and chorionic willi sampling in 3/13 (23.1 %) cases. In all prenatal detected cases we found congenital diaphragmatic hernia with associated anomalies. Of 13 prenatally detected cases, two were live born, 1 was stillbirth at 38 weeks of gestation and 10 pregnancies were terminated. Mean gestational age at termination of pregnancy was 25± 1.4 (range 17- 34) weeks. In conclusion, our data show that prenatal ultrasound examination has an important impact on the birth prevalence of Fryns syndrome in Europe, because is resulted in its 45.5% reduction as a consequence of the pregnancy termination.

Fryns syndrome; prenatal diagnosis

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