Document Detail

Feasibility of DNA diagnosis of haemoglobinopathies on coelocentesis.
MedLine Citation:
PMID:  21385172     Owner:  NLM     Status:  Publisher    
At 5-12 weeks of gestation the amniotic sac is surrounded by celomic fluid, which contains cells of fetal origin. This fluid can be sampled by celocentesis, which involves the ultrasound-guided insertion of a needle through the vagina. The aim of this study was to examine the feasibility of prenatal diagnosis of haemoglobinopathies from the celomic fluid using a specific protocol. Celocentesis was performed at 7-9 weeks gestation in 26 singleton pregnancies at risk for haemoglobinopathies. In 25 cases more than 30 fetal cells were recovered from the celomic fluid and in all these cases molecular analysis for haemoglobinopathies was possible and the results were confirmed by subsequent chorionic villus sampling or amniocentesis. The results of this study suggest that reliable diagnosis of thalassemia syndromes can be performed from 7 weeks gestation by celocentesis. Further work is necessary to demonstrate the safety of celocentesis before widespread use.
Antonino Giambona; George Makrydimas; Filippo Leto; Gianfranca Damiani; Maria Cristina Jakil; Francesco Picciotto; Disma Renda; Rosanna Fiorino; Maria Concetta Renda; Giovanna Schillaci; Desiderio Gueli-Alletti; Kypros H Nicolaides; Aurelio Maggio
Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2011-3-8
Journal Detail:
Title:  British journal of haematology     Volume:  -     ISSN:  1365-2141     ISO Abbreviation:  -     Publication Date:  2011 Mar 
Date Detail:
Created Date:  2011-3-9     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0372544     Medline TA:  Br J Haematol     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Copyright Information:
© 2011 Blackwell Publishing Ltd.
U.O.C. Ematologia II con Talassemia, AO. O.R. Villa Sofia Cervello, Palermo, Italy Department of Obstetrics and Gynaecology, Ioannina University Hospital, Ioannina, Greece U.O.S. di Diagnosi Prenatale, AO. O.R. Villa Sofia Cervello, Palermo, Italy Harris Birthright Research Centre for Fetal Medicine, King's College Hospital, London, UK.
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