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

Détails

ID Serval
serval:BIB_3BE3F7129561
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Institution
Titre
Turner syndrome: evaluation of prenatal diagnosis in 19 European registries.
Périodique
American Journal of Medical Genetics. Part A
Auteur⸱e⸱s
Baena N., De Vigan C., Cariati E., Clementi M., Stoll C., Caballín M.R., Guitart M.
Collaborateur⸱rice⸱s
EUROSCAN Working group
ISSN
1552-4825
Statut éditorial
Publié
Date de publication
2004
Peer-reviewed
Oui
Volume
129A
Numéro
1
Pages
16-20
Langue
anglais
Notes
(Addor M.C. included in the EUROSCAN Working group)
Résumé
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.
Mots-clé
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
Création de la notice
02/04/2009 8:35
Dernière modification de la notice
20/08/2019 13:32
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