Recurrent cystic hygroma with hydrops

Laxmi Baxi, Stephen Brown, Kavita Desai, Harshwardhan Thaker

Research output: Contribution to journalArticle

2 Citations (Scopus)

Abstract

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
Volume25
Issue number1
DOIs
StatePublished - Aug 1 2009
Externally publishedYes

Fingerprint

Cystic Lymphangioma
Edema
Fetus
Gaucher Disease
Pregnancy
Spouses
Erythropoietic Porphyria
Noonan Syndrome
Glucosylceramidase
Aneuploidy
Karyotype
Alleles
Mutation

Keywords

  • Cystic hygroma
  • Fetal hydrops with normal karyotype
  • Recurrent

ASJC Scopus subject areas

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

Cite this

Recurrent cystic hygroma with hydrops. / Baxi, Laxmi; Brown, Stephen; Desai, Kavita; Thaker, Harshwardhan.

In: Fetal Diagnosis and Therapy, Vol. 25, No. 1, 01.08.2009, p. 127-129.

Research output: Contribution to journalArticle

Baxi, Laxmi ; Brown, Stephen ; Desai, Kavita ; Thaker, Harshwardhan. / Recurrent cystic hygroma with hydrops. In: Fetal Diagnosis and Therapy. 2009 ; Vol. 25, No. 1. pp. 127-129.
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