Summary
Gaucher disease is a condition caused by a deficiency in the lysosomal enzyme glucocerebrosidase. Three main types of Gaucher disease have been identified, as well as a foetal form. The foetal form is the most rare type of Gaucher disease (<1%) and is perinatal lethal. The disease manifests in the foetus with foetal and placental anasarca, hepatosplenomegaly, ichtyosis, arthrogryposis, facial dysmorphism and foetal thrombocytopaenia. Death usually occurs in utero or shortly after birth. Gaucher disease is caused by a mutation in the GBA gene (1q21). Diagnosis is confirmed by demonstration of a deficiency in glucocerebrosidase activity. Biochemical confirmation of the diagnosis of perinatal-lethal Gaucher disease is essential for providing appropriate genetic counselling and prenatal diagnosis for future pregnancies. Biochemical prenatal diagnosis is recommended for couples who have already had a child diagnosed with the perinatal-lethal form of Gaucher disease. Prenatal testing can be carried out by measurement of glucocerebrosidase activity in chorionic villus samples at 10-12 weeks of amenorrhea or in amniocytes towards 16 weeks of amenorrhea. There is no treatment for this severe form of the disease. *Authors: Drs T. Billette, J. Stirnemann, and N. Belmatoug (October 2006)*.
