Prenatal diagnosis of dysmorphic syndromes by routine fetal ultrasound examination across Europe.

Détails

ID Serval
serval:BIB_589C7371A57B
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Institution
Titre
Prenatal diagnosis of dysmorphic syndromes by routine fetal ultrasound examination across Europe.
Périodique
Ultrasound in obstetrics & gynecology
Auteur(s)
Stoll C., Clementi M.
Collaborateur(s)
Euroscan study group
ISSN
0960-7692 (Print)
ISSN-L
0960-7692
Statut éditorial
Publié
Date de publication
06/2003
Peer-reviewed
Oui
Volume
21
Numéro
6
Pages
543-551
Langue
anglais
Notes
Publication types: Journal Article ; Multicenter Study ; Research Support, Non-U.S. Gov't
Publication Status: ppublish
Résumé
Ultrasound scan in the mid-trimester of pregnancy is now a routine part of prenatal care in most European countries. The objective of this study was to evaluate the prenatal diagnosis of dysmorphic syndromes by fetal ultrasound examination.
Data from 20 registries of congenital malformations in 12 European countries were included in the study.
There were 2454 cases with congenital heart diseases, 479 of which were recognized syndromes, including 375 chromosomal anomalies and 104 syndromes without chromosomal anomalies. Fifty-one of the 104 were detected prenatally (49.0%). One hundred and ninety-two of 1130 cases with renal anomalies were recognized syndromes, including 128 chromosomal anomalies and 64 syndromes without chromosomal anomalies; 162 of them (84.4%) were diagnosed prenatally, including 109 chromosomal anomalies and 53 non-chromosomal syndromes. Fifty-four of the 250 cases with limb defects were recognized syndromes, including 16 chromosomal syndromes and 38 syndromes without chromosomal anomalies; 21 of these 54 syndromes were diagnosed prenatally (38.9%), including 9 chromosomal syndromes. There were 243 cases of abdominal wall defects including 57 recognizable syndromes, 48 with omphalocele and 9 with gastroschisis; 48 were diagnosed prenatally (84.2%). Twenty-six of the 187 cases with diaphragmatic hernia had recognized syndromes, including 20 chromosomal aberrations and 6 syndromes without chromosomal anomalies. Twenty-two of them (84.6%) were detected prenatally. Sixty-four of 349 cases with intestinal anomalies were recognized syndromes; 24 were diagnosed prenatally (37.5%). There were 553 cases of cleft lip and palate (CL(P)) and 198 of cleft palate (CP) including 74 chromosomal anomalies and 73 recognized non-chromosomal syndromes. Prenatal diagnosis was made in 51 cases of CL(P) (53.7%) and 7 of CP (13.7%). Twenty-two of 188 anencephalic cases were syndromic and all were diagnosed prenatally. Of 290 cases with spina bifida, 18 were recognized syndromes, and of them 17 were diagnosed prenatally. All 11 syndromic encephaloceles were diagnosed prenatally.
Around 50% of the recognized syndromes which are associated with major congenital anomalies (cardiac, renal, intestinal, limb defects, abdominal wall defects and oral clefts) can be detected prenatally by the anomaly scan. However the detection rate varies with the type of syndrome and with the different countries' policies of prenatal screening.
Mots-clé
Abdominal Wall/abnormalities, Cleft Lip/diagnostic imaging, Cleft Palate/diagnostic imaging, Congenital Abnormalities/diagnostic imaging, Europe, Female, Fetal Diseases/diagnostic imaging, Hernia, Diaphragmatic/diagnostic imaging, Humans, Intestines/abnormalities, Kidney/abnormalities, Neural Tube Defects/diagnostic imaging, Pregnancy, Registries, Syndrome, Ultrasonography, Prenatal
Pubmed
Web of science
Open Access
Oui
Création de la notice
02/04/2009 8:39
Dernière modification de la notice
05/10/2019 5:08
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