Recurrent cystic hygroma with hydrops

A patient whose 5 fetuses, including a set of twins, were affected by cystic hygroma (CH) and hydrops is presented.

A 39-year-old gravida 12 para 7, 2, 2, 8 was followed through her pregnancies. Both patient and her spouse are of Ashkenazi Jewish descent and are non-consanguineous. The spouse has Gaucher disease and is on replacement therapy. The patient is not a carrier of any known allele of Gaucher disease. In 2 pregnancies, an ultrasonogram done at 12 weeks revealed a septated CH in 3 fetuses. We have excluded Noonan syndrome, Fryns syndrome and Gunther's disease as the responsible causes for the recurrent CH and aneuploidy in at least 3 of these fetuses.

The products of conception in 1 pregnancy showed low normal levels of glucocerebrosidase but no known Gaucher mutation.

We present a patient with recurrent CH in 5 fetuses (4 pregnancies) of which 3 fetuses had a normal karyotype. This appears to be an autosomal recessive disorder.