Prenatal microarray comparative genomic hybridization: Experience from the two first years of activity at the Lyon university-hospital - 24/03/17
, M. Till a, E. Alix a, C. Abel a, D. Boggio a, A. Bordes c, J. Caloone d, F.C. Raskin e, N. Chatron a, b, f, M.-P. Cordier a, A. Fichez d, A. Labalme a, C. Lajeunesse c, É. Liaras e, M. Massoud c, J. Miribel c, E. Ollagnon a, C. Schluth-Bolard a, b, f, A. Vichier-Cerf a, P. Edery a, b, f, J. Attia b, e, C. Huissoud d, R.C. Rudigoz b, d, J. Massardier c, P. Gaucherand b, c, D. Sanlaville a, b, fBienvenue sur EM-consulte, la référence des professionnels de santé.
L’accès au texte intégral de cet article nécessite un abonnement.
| pages | 9 |
| Iconographies | 2 |
| Vidéos | 0 |
| Autres | 0 |
Abstract |
Objectives |
This study aims to describe how microarray comparative genomic hybridization (aCGH) has shifted to become a prenatal diagnosis tool at the Lyon university-hospital.
Materials and methods |
This retrospective study included all patients who were referred in the 3 pluridisciplinary centers for prenatal diagnosis of the Lyon university-hospital and who received a prenatal aCGH between June 2013 and June 2015. aCGH was systematically performed in parallel with a karyotype, using the PréCytoNEM array design.
Results |
A total of 260 microarrays were performed for the following indications: 249 abnormal ultrasounds (95.8%), 7 characterizations of chromosomal rearrangements (2.7%), and 4 twins with no abnormal ultrasounds (1.5%). With a resolution of 1 mega base, we found 235 normal results (90.4%), 23 abnormal results (8.8%) and 2 non-returns (0.8%). For the chromosomal rearrangements visible on the karyotype, aCGH identified all of the 12 unbalanced rearrangements and did not identify the 2 balanced rearrangements. Among the fetuses with normal karyotypes, 11 showed abnormal microarray results, corresponding to unbalanced cryptic chromosomal rearrangements (4.2%).
Conclusion |
Transferring aCGH to a prenatal diagnosis at the Lyon university-hospital has increased the detection rate of chromosomal abnormalities by 4.2% compared to the single karyotype.
Le texte complet de cet article est disponible en PDF.Keywords : Prenatal diagnosis, Microarray comparative genomic hybridization, Abnormal ultrasounds, Characterization of chromosomal rearrangements
Abbreviations : aCGH, CNV, CPDPN, DNA, FISH, IUGR, kb, Mb, MTOP, qPCR, VOUS
Plan
Vol 46 - N° 3
P. 275-283 - mars 2017 Retour au numéro
Article précédent
- Prevention of infertility induced by ovarian ischemia reperfusion injury by benidipine in rats: Biochemical, gene expression, histopathological and immunohistochemical evaluation
- E. Unlubilgin, B. Suleyman, G. Balci, R. Atakan Al, M. Cankaya, U. Arslan Nayki, H. Suleyman
- Relevance of routine Doppler sampling at the two umbilical arteries in the follow-up of dichorionic twin pregnancies with intrauterine growth-restricted fetuses
- A.J. Vivanti, E. Lecarpentier, A.-G. Cordier, F. Proulx, V. Tsatsaris, A. Benachi
Bienvenue sur EM-consulte, la référence des professionnels de santé.
L’accès au texte intégral de cet article nécessite un abonnement.
Bienvenue sur EM-consulte, la référence des professionnels de santé.
L’achat d’article à l’unité est indisponible à l’heure actuelle.
Déjà abonné à cette revue ?