Document Detail

Recurrent cystic hygroma with hydrops.
MedLine Citation:
PMID:  19276638     Owner:  NLM     Status:  MEDLINE    
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.
Laxmi Baxi; Stephen Brown; Kavita Desai; Harshavardhan Thaker
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Publication Detail:
Type:  Case Reports; Journal Article     Date:  2009-03-11
Journal Detail:
Title:  Fetal diagnosis and therapy     Volume:  25     ISSN:  1421-9964     ISO Abbreviation:  Fetal. Diagn. Ther.     Publication Date:  2009  
Date Detail:
Created Date:  2009-08-26     Completed Date:  2009-11-17     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9107463     Medline TA:  Fetal Diagn Ther     Country:  Switzerland    
Other Details:
Languages:  eng     Pagination:  127-9     Citation Subset:  IM    
Copyright Information:
(c) 2009 S. Karger AG, Basel.
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.
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MeSH Terms
Founder Effect
Gaucher Disease / genetics
Hydrops Fetalis / genetics,  ultrasonography*
Lymphangioma, Cystic / complications,  genetics,  ultrasonography*
Ultrasonography, Prenatal

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