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


METHODS
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.


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


CONCLUSIONS
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.
Baxi
Laxmi
L
Department of Obstetrics and Gynecology, College of Physicians and Surgeons of Columbia University and Sloane Hospital for Women of Columbia University Medical Center at NY Presbyterian Hospital, New York, NY 10032, USA. lvb1@columbia.edu
Brown
Stephen
S
Desai
Kavita
K
Thaker
Harshavardhan
H
D000328:Adult; D005260:Female; D018703:Founder Effect; D005776:Gaucher Disease / Q000235:genetics; D006801:Humans; D015160:Hydrops Fetalis / Q000000981:diagnostic imaging* / Q000235:genetics; D018191:Lymphangioma, Cystic / Q000150:complications / Q000000981:diagnostic imaging* / Q000235:genetics; D011247:Pregnancy; D016216:Ultrasonography, Prenatal