title: Recurrent cystic hygroma with hydrops.
abstract: 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.
authors.affiliation: 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
authors.forename: Laxmi
authors.initials: L
authors.lastname: Baxi
authors.forename: Stephen
authors.initials: S
authors.lastname: Brown
authors.forename: Kavita
authors.initials: K
authors.lastname: Desai
authors.forename: Harshavardhan
authors.initials: H
authors.lastname: Thaker
mesh_terms: 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