Recurrent cystic hygroma with hydrops

Laxmi Baxi, Stephen Brown, Kavita Desai, Harshavardhan Thaker

Research output: Contribution to journalArticlepeer-review

5 Scopus citations


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

Original languageEnglish (US)
Pages (from-to)127-129
Number of pages3
JournalFetal Diagnosis and Therapy
Issue number1
StatePublished - Aug 2009
Externally publishedYes


  • Cystic hygroma
  • Fetal hydrops with normal karyotype
  • Recurrent

ASJC Scopus subject areas

  • Obstetrics and Gynecology
  • Radiology Nuclear Medicine and imaging
  • Pediatrics, Perinatology, and Child Health
  • Embryology


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