Complete trisomy 21 vs translocation Down syndrome: a comparison of modes of ascertainment - 19/08/11
Résumé |
Objective |
To compare the indications for invasive prenatal testing resulting in the detection of translocation Down syndrome and complete trisomy 21.
Study Design |
This case control study was based on a large amniocentesis and chorionic villi samples database (n = 534,795). All specimens with translocation Down syndrome (n = 203) comprised the translocation group and were compared with a maternal age-matched group (4 to 1, n = 812) in which complete trisomy 21 was detected. Women with a normal karyotype were randomly selected (n = 812) and served as controls. Indications for invasive testing were compared among the 3 paired groups using χ2 analysis.
Results |
There were no differences in the incidence of abnormal first- and second-trimester screening tests between the translocation Down syndrome and the complete trisomy 21 groups. History of prior aneuploidy was significantly more frequent in the translocation Down syndrome group, as compared with either complete trisomy 21 fetuses or normal controls.
Conclusion |
Fetuses with translocation Down syndrome present with the same screening abnormalities as fetuses with complete trisomy 21.
Le texte complet de cet article est disponible en PDF.Key words : Down syndrome, prenatal diagnosis, translocation, trisomy 21
Plan
| Cite this article as: Bornstein E, Lenchner E, Donnenfeld A, et al. Complete trisomy 21 vs translocation Down syndrome: a comparison of modes of ascertainment. Am J Obstet Gynecol 2010;203:391.e1-5. |
|
| Reprints not available from the authors. |
Vol 203 - N° 4
P. 391.e1-391.e5 - octobre 2010 Retour au numéro
Article précédent
- Preoperative predictors of death in twin-to-twin transfusion syndrome treated with laser ablation of placental anastomoses
- Daniel W. Skupski, Francois I. Luks, Martin Walker, Ramesha Papanna, Michael Bebbington, Greg Ryan, Richard O'Shaughnessy, Julie Moldenhauer, Ozan Bahtiyar, North American Fetal Therapy Network (NAFTNet)
- Does midtrimester cervical length ≥25 mm predict preterm birth in high-risk women?
- John Owen, Jeff M. Szychowski, Gary Hankins, Jay D. Iams, Jeanne S. Sheffield, Annette Perez-Delboy, Vincenzo Berghella, Deborah A. Wing, Edwin R. Guzman, Vaginal Ultrasound Trial Consortium
Bienvenue sur EM-consulte, la référence des professionnels de santé.
L’accès au texte intégral de cet article nécessite un abonnement.
Déjà abonné à cette revue ?