Document Detail

Outcome of pregnancies with trisomy 2 cells in chorionic villi.
MedLine Citation:
PMID:  20120006     Owner:  NLM     Status:  MEDLINE    
OBJECTIVE: To describe the outcome of pregnancies with trisomy 2 in cultures of first-trimester chorionic villous samples (CVS) and determine whether amniocentesis is necessary in the management of such cases. METHODS: Cultures of chorionic villi were performed at 11-13 weeks in 37 474 pregnancies. In those with trisomy 2 cells, amniocentesis was performed at 16 weeks. Pregnancy outcome was obtained from maternity records. RESULTS: Trisomy 2 cells in CVS cultures were observed in 45 of 37 474 pregnancies (1.2 per 1000). In 43 cases ultrasound examination at 16-20 weeks showed no fetal abnormalities, amniocentesis demonstrated the presence of only normal cells, and all 43 pregnancies ended in normal healthy live births. The birth weight was below the 5th centile in six neonates (13.9%). There was a significant association between the birth weight centile and the percentage of trisomic cells in the CVS culture (r = 0.409, p = 0.010). In one case, there was fetal death at 15 weeks. In a second case, amniocentesis showed one cell with trisomy 2 in a total of 53 cells, and ultrasound examination at 18 weeks showed severe fetal growth restriction and coarctation of the aorta. CONCLUSION: In at least 95% of cases with trisomy 2 in CVS cultures there is confined placental mosaicism (CPM). The prognosis is good, but in about 15% of cases there is fetal growth restriction.
Stavros Sifakis; Ismini Staboulidou; Nerea Maiz; Voula Velissariou; Kypros H Nicolaides
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Prenatal diagnosis     Volume:  30     ISSN:  1097-0223     ISO Abbreviation:  Prenat. Diagn.     Publication Date:  2010 Apr 
Date Detail:
Created Date:  2010-04-07     Completed Date:  2010-06-29     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  8106540     Medline TA:  Prenat Diagn     Country:  England    
Other Details:
Languages:  eng     Pagination:  329-32     Citation Subset:  IM    
Copyright Information:
Copyright (c) 2010 John Wiley & Sons, Ltd.
Harris Birthright Centre for Fetal Medicine, Kings' College Hospital, London, UK.
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MeSH Terms
Chorionic Villi Sampling
Chromosomes, Human, Pair 2*
Fetal Diseases / ultrasonography*
Infant, Newborn
Middle Aged
Pregnancy Outcome
Pregnancy Trimester, First
Trisomy / diagnosis*
Young Adult

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