Document Detail

Prenatal diagnosis of trisomy 21: registration results from a single genetic center.
MedLine Citation:
PMID:  18618989     Owner:  NLM     Status:  MEDLINE    
This is a retrospective review of all collected amniotic fluid samples, chorionic villus samples and other fluid-aspirations (hygroma colli fluid/urine from megacystis) over an 11-year period (1996-2006) in a single Genetic Center (University Hospital Gasthuisberg, Leuven), looking at the prenatal diagnosis of trisomy 21. In this study a total of 404 diagnoses of trisomy 21 were made on 29696 samples (1.4%). The prenatal diagnosis of trisomy 21 increased over the years with 0.88% (21/2363) in 1996 and 1.99% (50/2512)in 2006. Also the type of invasive testing changed over the years with an increase of the proportion of trisomy 21- diagnoses by chorionic villussampling from 2001. Looking at the registry for perinatal activities in Flanders for the year 2006 the live birth incidence for trisomy 21 was 1/1782 and this is lower than the often reported incidence oftrisomy 21 at birth of 1/800: it is likely that the use of more sensitive screening methods for the prenatal detection of trisomy 21 and the election of termination for most affected pregnancies affects the birth incidence oftrisomy 21.
I Witters; J P Fryns
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Genetic counseling (Geneva, Switzerland)     Volume:  19     ISSN:  1015-8146     ISO Abbreviation:  Genet. Couns.     Publication Date:  2008  
Date Detail:
Created Date:  2008-07-14     Completed Date:  2008-09-09     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9015261     Medline TA:  Genet Couns     Country:  Switzerland    
Other Details:
Languages:  eng     Pagination:  157-63     Citation Subset:  IM    
Center for Human Genetics, University of Leuven, Leuven, Belgium.
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MeSH Terms
Amniocentesis / statistics & numerical data
Belgium / epidemiology
Chorionic Villi Sampling / statistics & numerical data
Down Syndrome / diagnosis*,  epidemiology
Maternal Age
Prenatal Diagnosis* / methods,  statistics & numerical data
Retrospective Studies

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