Document Detail

Prenatal diagnosis of a true fetal tetraploidy in direct and cultured chorionic villi.
MedLine Citation:
PMID:  15658618     Owner:  NLM     Status:  MEDLINE    
Prenatal diagnosis of a true fetal tetraploidy in direct and cultured chorionic villi: Tetraploidy is characterized by four complete sets of chromosomes (4n= 92). Although it has been frequently reported in spontaneous abortions, tetraploidy is extremely rare in term pregnancy. Most of late surviving patients are diploid/tetraploid mosaics and present severe mental and physical impairment. Up to date, only five tetraploidies were ascertained in the prenatal stage in amniocytes and/or fetal blood lymphocytes. No one has been reported in chorionic villi probably because tetraploidy is generally considered in this tissue as a false positive result due to confined placental mosaicism (CPM) or placental culture artefacts. We report here on a case of tetraploidy detected in chorionic villi because of fetal cystic hygroma. We discuss the reliability of this diagnosis and propose guidelines in the follow-up of tetraploidies detected after chorionic villus sampling (CVS). Thus a misdiagnosis of this poor condition will be avoided at best and an appropriate genetic counseling will be given to the parents.
C Schluth; B Doray; F Girard-Lemaire; R Favre; J Flori; B Gasser; G Rudolf; E Flori
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Genetic counseling (Geneva, Switzerland)     Volume:  15     ISSN:  1015-8146     ISO Abbreviation:  Genet. Couns.     Publication Date:  2004  
Date Detail:
Created Date:  2005-01-20     Completed Date:  2005-04-21     Revised Date:  2007-11-15    
Medline Journal Info:
Nlm Unique ID:  9015261     Medline TA:  Genet Couns     Country:  Switzerland    
Other Details:
Languages:  eng     Pagination:  429-36     Citation Subset:  IM    
Laboratoire de Cytogénétique, Hôpital de Hautepierre, 67098 Strasbourg, France.
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MeSH Terms
Chorionic Villi Sampling*
Chromosome Aberrations
Fatal Outcome
Fetal Diseases / diagnosis*,  genetics*,  ultrasonography
Guidelines as Topic
Lymphangioma, Cystic / diagnosis,  embryology,  genetics
Placenta / cytology
Pregnancy Complications
Reproducibility of Results

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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