Turner syndrome: evaluation of prenatal diagnosis in 19 European registries.

Details

Serval ID
serval:BIB_3BE3F7129561
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
Turner syndrome: evaluation of prenatal diagnosis in 19 European registries.
Journal
American Journal of Medical Genetics. Part A
Author(s)
Baena N., De Vigan C., Cariati E., Clementi M., Stoll C., Caballín M.R., Guitart M.
Working group(s)
EUROSCAN Working group
ISSN
1552-4825
Publication state
Published
Issued date
2004
Peer-reviewed
Oui
Volume
129A
Number
1
Pages
16-20
Language
english
Notes
(Addor M.C. included in the EUROSCAN Working group)
Abstract
This study evaluated the prenatal diagnosis of Turner syndrome by ultrasound examination in an unselected population from all over Europe. Data from 19 congenital malformation registries from 11 European countries were analyzed. Turner syndrome was diagnosed in 125 cases (7.2%) in a total of 1,738 chromosome abnormalities. Sixty-seven percent of cases were detected prenatally by ultrasound examination due to the presence of congenital defects. The most frequent anomalies were cystic hygroma (59.5%) and hydrops fetalis (19%). The most frequent karyotype was 45,X (81.6%) followed by different types of mosaicism (16.8%). Significant differences in congenital defects (P = 0.0003) were observed between 45,X karyotypes and 45,X mosaicism cases. Prenatal counseling for 45,X mosaicism should take into account the expectation of a milder phenotype. In 78.6% of cases diagnosed by ultrasound examination due to congenital anomalies, the pregnancy was terminated. Prenatal detection of Turner syndrome by ultrasound examination was high in this unselected population.
Keywords
Adolescent, Adult, Congenital Abnormalities, Europe, Female, Gestational Age, Humans, Karyotyping, Maternal Age, Pregnancy, Registries, Sensitivity and Specificity, Turner Syndrome, Ultrasonography, Prenatal
Pubmed
Web of science
Create date
02/04/2009 8:35
Last modification date
20/08/2019 13:32
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