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It is very rare with an incidence of less than 5% of GD cases.

This form is particularly severe. The disease manifests in the fetus with a decrease or absence of fetal movements, fetal and placental anasarca, hepatosplenomegaly, ichthyosis, arthrogryposis, facial dysmorphism and fetal thrombocytopenia. Death usually occurs in utero or shortly after birth (<3 months).

Fetal Gaucher disease is a lysosomal storage disease caused by a mutation in the GBA gene (1q21) that encodes for the lysosomal enzyme, glucocerebrosidase. The enzyme deficiency resulting from the mutation leads to accumulation of glucosylceramide (or beta-glucocerebrosidase) deposits in the cells of the reticuloendothelial system of the liver, spleen and bone marrow (Gaucher cells).

Diagnosis is made by demonstrating a deficiency in the enzymatic activity of glucocerebrosidase.

Biochemical prenatal diagnosis is recommended for couples who have already had a child diagnosed with Fetal Gaucher disease or GD type 2. It can be carried out by measuring the enzyme activity in chorionic villus samples at 10-12 weeks of pregnancy or in amniocytes in culture towards 16 weeks of pregnancy.

The transmission is autosomal recessive.

There is no treatment for this severe form of the disease.